#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
CNOT1	23019	broad.mit.edu	37	16	58633154	58633154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr16:58633154G>A	ENST00000317147.5	-	2	420	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q30*|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q30*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	30					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTATTTCCTGCTGGCTGGCT	0.448																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(88-90)Cag>Tag		CCR4-NOT transcription complex, subunit 1							114.0	102.0	107.0					16																	58633154		2198	4300	6498	SO:0001587	stop_gained	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58633154G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.88C>T	16.37:g.58633154G>A	ENSP00000320949:p.Gln30*					CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q30*|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q30*	p.Q30*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	2	420	-			30					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Nonsense_Mutation	SNP	ENST00000317147.5	37	c.88C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	36	5.619333	0.96649	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	.	.	.	5.01	5.01	0.66863	.	0.128450	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.8142	18.6815	0.91547	0.0:0.0:1.0:0.0	.	.	.	.	X	30	.	.	Q	-	1	0	CNOT1	57190655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.752000	0.98900	2.476000	0.83614	0.557000	0.71058	CAG		0.448	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		6	99	0	0	0	1	0	6	99				
ZNF292	23036	broad.mit.edu	37	6	87968799	87968799	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:87968799G>T	ENST00000369577.3	+	8	5495	c.5452G>T	c.(5452-5454)Gtc>Ttc	p.V1818F	ZNF292_ENST00000339907.4_Missense_Mutation_p.V1813F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1818						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTTTATAAGTGTCATGCCAAC	0.318																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(5452-5454)Gtc>Ttc		zinc finger protein 292							28.0	29.0	28.0					6																	87968799		1851	4087	5938	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968799G>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5452G>T	6.37:g.87968799G>T	ENSP00000358590:p.Val1818Phe					ZNF292_ENST00000339907.4_Missense_Mutation_p.V1813F	p.V1818F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5495	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1818					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.5452G>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	0.822	-0.748348	0.03065	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.10192	2.9;2.91	5.86	1.07	0.20283	.	0.427203	0.21916	N	0.067240	T	0.02533	0.0077	N	0.19112	0.55	0.09310	N	1	B	0.29805	0.257	B	0.30401	0.115	T	0.38329	-0.9666	10	0.72032	D	0.01	.	11.0607	0.47946	0.3771:0.0:0.6229:0.0	.	1818	O60281	ZN292_HUMAN	F	1818;1813	ENSP00000358590:V1818F;ENSP00000342847:V1813F	ENSP00000342847:V1813F	V	+	1	0	ZNF292	88025518	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	0.842000	0.27627	0.195000	0.20347	-0.145000	0.13849	GTC		0.318	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		5	13	1	0	0.000602214	1	0.000621959	5	13				
KIF17	57576	broad.mit.edu	37	1	21009257	21009257	+	Silent	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:21009257G>A	ENST00000247986.2	-	11	2662	c.2352C>T	c.(2350-2352)gcC>gcT	p.A784A	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.A784A|KIF17_ENST00000375044.1_Silent_p.A684A			Q9P2E2	KIF17_HUMAN	kinesin family member 17	784					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGTTCTGCAGGGCAGCCACCA	0.607																																						ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2350-2352)gcC>gcT		kinesin family member 17							78.0	69.0	72.0					1																	21009257		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21009257G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2352C>T	1.37:g.21009257G>A						KIF17_ENST00000375044.1_Silent_p.A684A|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.A784A	p.A784A			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	11	2662	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	784					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.2352C>T	CCDS213.1																																																																																				0.607	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		14	42	0	0	0	1	0	14	42				
RBMXL1	494115	broad.mit.edu	37	1	89448493	89448493	+	Silent	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:89448493G>A	ENST00000321792.5	-	2	1444	c.1017C>T	c.(1015-1017)gaC>gaT	p.D339D	CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Silent_p.D339D|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'Flank	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	339	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TGCCAACCCTGTCACAACTTG	0.507																																						ENST00000399794.2																			0											c.(1015-1017)gaC>gaT		RNA binding motif protein, X-linked-like 1							181.0	182.0	182.0					1																	89448493		2203	4300	6503	SO:0001819	synonymous_variant	494115						nucleotide binding|RNA binding	g.chr1:89448493G>A	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.1017C>T	1.37:g.89448493G>A						CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Silent_p.D339D|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron	p.D339D	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	1732	-			339			Ser-rich.			Silent	SNP	ENST00000321792.5	37	c.1017C>T	CCDS716.1																																																																																				0.507	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		5	186	0	0	0	1	0	5	186				
AP4B1	10717	broad.mit.edu	37	1	114442579	114442579	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:114442579C>T	ENST00000369569.1	-	5	1341	c.1061G>A	c.(1060-1062)gGg>gAg	p.G354E	AP4B1_ENST00000369566.3_Missense_Mutation_p.G261E|AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000369567.1_Missense_Mutation_p.G186E|AP4B1_ENST00000256658.4_Missense_Mutation_p.G354E|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	354					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGTGCAGTACCCTCGAAGCTC	0.527																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(1060-1062)gGg>gAg		adaptor-related protein complex 4, beta 1 subunit							277.0	269.0	272.0					1																	114442579		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442579C>T	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1061G>A	1.37:g.114442579C>T	ENSP00000358582:p.Gly354Glu					AP4B1_ENST00000369566.3_Missense_Mutation_p.G261E|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.G186E|AP4B1_ENST00000256658.4_Missense_Mutation_p.G354E	p.G354E	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1341	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	354					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.1061G>A	CCDS865.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469874	0.43839	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564	T;T;T;T;T	0.22945	1.93;1.93;1.93;2.86;1.93	5.03	4.09	0.47781	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.200747	0.53938	D	0.000060	T	0.02119	0.0066	N	0.01140	-0.99	0.48395	D	0.999644	B;B;B;B	0.33022	0.025;0.005;0.394;0.003	B;B;B;B	0.31946	0.021;0.008;0.138;0.005	T	0.40156	-0.9578	10	0.02654	T	1	.	7.0196	0.24907	0.1499:0.7091:0.0:0.1409	.	261;186;354;255	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	E	186;354;354;261;279	ENSP00000358580:G186E;ENSP00000358582:G354E;ENSP00000256658:G354E;ENSP00000358579:G261E;ENSP00000358577:G279E	ENSP00000256658:G354E	G	-	2	0	AP4B1	114244102	0.573000	0.26676	0.998000	0.56505	0.988000	0.76386	2.321000	0.43805	2.487000	0.83934	0.462000	0.41574	GGG		0.527	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		145	208	0	0	0	1	0	145	208				
NRG1	3084	broad.mit.edu	37	8	32611943	32611943	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr8:32611943G>T	ENST00000405005.3	+	8	754	c.754G>T	c.(754-756)Gcc>Tcc	p.A252S	NRG1_ENST00000287845.5_Missense_Mutation_p.A223S|NRG1_ENST00000521670.1_Missense_Mutation_p.A252S|NRG1_ENST00000539990.1_Missense_Mutation_p.A95S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000338921.4_Missense_Mutation_p.A260S|NRG1_ENST00000519301.1_Missense_Mutation_p.A202S|NRG1_ENST00000287842.3_Missense_Mutation_p.A249S|NRG1_ENST00000356819.4_Missense_Mutation_p.A257S|NRG1_ENST00000523079.1_Missense_Mutation_p.A249S			Q02297	NRG1_HUMAN	neuregulin 1	252					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CATCTGCATCGCCCTCCTTGT	0.522																																						ENST00000338921.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(778-780)Gcc>Tcc		neuregulin 1							239.0	164.0	190.0					8																	32611943		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32611943G>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.754G>T	8.37:g.32611943G>T	ENSP00000384620:p.Ala252Ser					NRG1_ENST00000287840.5_Missense_Mutation_p.A252S|NRG1_ENST00000287845.5_Missense_Mutation_p.A223S|NRG1_ENST00000521670.1_Missense_Mutation_p.A252S|NRG1_ENST00000539990.1_Missense_Mutation_p.A95S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.A249S|NRG1_ENST00000519301.1_Missense_Mutation_p.A202S|NRG1_ENST00000523079.1_Missense_Mutation_p.A249S|NRG1_ENST00000356819.4_Missense_Mutation_p.A257S|NRG1_ENST00000405005.2_Missense_Mutation_p.A252S	p.A260S			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	9	1295	+		Breast(100;0.203)	252					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.778G>T	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542760	0.85917	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000521670;ENST00000522402;ENST00000519240;ENST00000539990	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;2.57;0.46	5.47	5.47	0.80525	Neuregulin 1-related, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70570	0.3239	M	0.61703	1.905	0.80722	D	1	P;D;P;P;P;P;B;P;P;P;P	0.64830	0.934;0.994;0.787;0.66;0.874;0.882;0.277;0.748;0.675;0.847;0.918	P;D;P;B;P;P;B;P;P;P;P	0.66497	0.667;0.944;0.781;0.41;0.678;0.869;0.12;0.55;0.456;0.55;0.794	T	0.72590	-0.4247	10	0.72032	D	0.01	3.7865	19.3324	0.94297	0.0:0.0:1.0:0.0	.	95;98;249;223;257;248;260;249;252;257;252	B7Z1E3;B7Z1D7;E9PHH4;F8W9E3;Q7RTW4;B0FYA9;Q02297-2;Q02297-7;Q02297;Q02297-6;Q02297-3	.;.;.;.;.;.;.;.;NRG1_HUMAN;.;.	S	219;202;325;249;260;257;252;223;249;252;252;98;95;95	ENSP00000430053:A219S;ENSP00000429582:A202S;ENSP00000429067:A325S;ENSP00000430120:A249S;ENSP00000343395:A260S;ENSP00000349275:A257S;ENSP00000287840:A252S;ENSP00000287845:A223S;ENSP00000287842:A249S;ENSP00000384620:A252S;ENSP00000428828:A252S;ENSP00000430862:A98S;ENSP00000428411:A95S;ENSP00000439276:A95S	ENSP00000287840:A252S	A	+	1	0	NRG1	32731485	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.869000	0.99810	2.569000	0.86673	0.650000	0.86243	GCC		0.522	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			14	13	1	0	0.0167234	1	0.0169931	14	13				
RAB39A	54734	broad.mit.edu	37	11	107832736	107832736	+	Nonsense_Mutation	SNP	C	C	T	rs201681603		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr11:107832736C>T	ENST00000320578.2	+	2	358	c.292C>T	c.(292-294)Cga>Tga	p.R98*		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	98					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)										CATTACTAACCGACGATCTTT	0.348																																						ENST00000320578.2																			0											c.(292-294)Cga>Tga		RAB39A, member RAS oncogene family							71.0	69.0	70.0					11																	107832736		2201	4298	6499	SO:0001587	stop_gained	54734				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr11:107832736C>T	X99962	CCDS8338.1	11q22.3	2011-11-22	2011-11-22	2011-11-22	ENSG00000179331	ENSG00000179331		"""RAB, member RAS oncogene"""	16521	protein-coding gene	gene with protein product	"""rab-related GTP-binding protein"""		"""RAB39, member RAS oncogene family"""	RAB39		9119394	Standard	NM_017516		Approved		uc001pjt.3	Q14964	OTTHUMG00000166367	ENST00000320578.2:c.292C>T	11.37:g.107832736C>T	ENSP00000322594:p.Arg98*						p.R98*	NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN			2	358	+			98					A8KAA4|Q8N6W2	Nonsense_Mutation	SNP	ENST00000320578.2	37	c.292C>T	CCDS8338.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627261	0.87560	.	.	ENSG00000179331	ENST00000320578	.	.	.	5.4	4.49	0.54785	.	0.000000	0.49305	D	0.000157	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.863	0.79040	0.1366:0.8634:0.0:0.0	.	.	.	.	X	98	.	ENSP00000322594:R98X	R	+	1	2	RAB39	107337946	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.526000	0.67116	1.512000	0.48834	-0.133000	0.14855	CGA		0.348	RAB39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389423.1	NM_017516		4	85	0	0	0	1	0	4	85				
HPR	3250	broad.mit.edu	37	16	72108237	72108237	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr16:72108237T>C	ENST00000540303.2	+	3	178	c.146T>C	c.(145-147)tTt>tCt	p.F49S	HPR_ENST00000356967.5_Missense_Mutation_p.F49S|HPR_ENST00000561690.1_Missense_Mutation_p.F49S|HPR_ENST00000228226.8_Missense_Mutation_p.F86S	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	49	Sushi.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GAGCACTTGTTTCGCTACCAG	0.483																																						ENST00000540303.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20						c.(145-147)tTt>tCt		haptoglobin-related protein							221.0	136.0	163.0					16																	72108237		1966	4141	6107	SO:0001583	missense	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72108237T>C	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.146T>C	16.37:g.72108237T>C	ENSP00000441828:p.Phe49Ser					HPR_ENST00000228226.8_Missense_Mutation_p.F86S|HPR_ENST00000561690.1_Missense_Mutation_p.F49S|HPR_ENST00000356967.5_Missense_Mutation_p.F49S	p.F49S	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN			3	178	+		Ovarian(137;0.125)	49			Sushi.		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	c.146T>C	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	T	6.380	0.438175	0.12104	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	T;T;T	0.48836	0.8;0.8;0.8	2.4	2.4	0.29515	Complement control module (2);	0.573140	0.16325	N	0.219367	T	0.27933	0.0688	N	0.14661	0.345	0.09310	N	1	B	0.19445	0.036	B	0.19148	0.024	T	0.21143	-1.0254	10	0.87932	D	0	.	6.5813	0.22596	0.0:0.0:0.0:1.0	.	49	P00739	HPTR_HUMAN	S	49;49;86	ENSP00000349451:F49S;ENSP00000441828:F49S;ENSP00000228226:F86S	ENSP00000228226:F86S	F	+	2	0	HP	70665738	0.358000	0.24947	0.020000	0.16555	0.007000	0.05969	3.300000	0.51834	1.087000	0.41251	0.172000	0.16884	TTT		0.483	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		31	33	0	0	0	1	0	31	33				
PDE2A	5138	broad.mit.edu	37	11	72290360	72290360	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr11:72290360C>T	ENST00000334456.5	-	27	2569	c.2324G>A	c.(2323-2325)cGc>cAc	p.R775H	PDE2A_ENST00000540345.1_Missense_Mutation_p.R766H|PDE2A_ENST00000376450.3_Missense_Mutation_p.R519H|PDE2A_ENST00000418754.2_Missense_Mutation_p.R660H|PDE2A_ENST00000544570.1_Missense_Mutation_p.R768H|PDE2A_ENST00000444035.2_Missense_Mutation_p.R766H	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	775	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CTTGAAGATGCGGAGATGGTG	0.602																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2323-2325)cGc>cAc		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						102.0	94.0	97.0					11																	72290360		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72290360C>T	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2324G>A	11.37:g.72290360C>T	ENSP00000334910:p.Arg775His					PDE2A_ENST00000540345.1_Missense_Mutation_p.R766H|PDE2A_ENST00000418754.2_Missense_Mutation_p.R660H|PDE2A_ENST00000444035.2_Missense_Mutation_p.R766H|PDE2A_ENST00000544570.1_Missense_Mutation_p.R768H|PDE2A_ENST00000376450.3_Missense_Mutation_p.R519H	p.R775H	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		27	2569	-			775			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.2324G>A	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346886	0.95807	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000420501;ENST00000441209	T;T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.37	5.37	0.77165	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.127695	0.53938	D	0.000053	D	0.84844	0.5562	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.74674	0.949;0.976;0.982;0.984;0.981;0.982	D	0.86048	0.1524	10	0.72032	D	0.01	.	17.6997	0.88291	0.0:1.0:0.0:0.0	.	660;775;766;768;775;519	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	H	775;519;766;844;768;660;766;154;316	ENSP00000334910:R775H;ENSP00000365633:R519H;ENSP00000411657:R766H;ENSP00000442256:R768H;ENSP00000410310:R660H;ENSP00000446399:R766H;ENSP00000388997:R154H;ENSP00000392457:R316H	ENSP00000334910:R775H	R	-	2	0	PDE2A	71968008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.600000	0.82769	2.525000	0.85131	0.650000	0.86243	CGC		0.602	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		11	58	0	0	0	1	0	11	58				
DBF4	10926	broad.mit.edu	37	7	87536921	87536921	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:87536921G>C	ENST00000265728.1	+	12	1972	c.1468G>C	c.(1468-1470)Gta>Cta	p.V490L		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	490					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ACAGGCATCTGTACATGTTTC	0.368																																						ENST00000265728.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28						c.(1468-1470)Gta>Cta		DBF4 homolog (S. cerevisiae)							84.0	81.0	82.0					7																	87536921		2203	4300	6503	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87536921G>C	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1468G>C	7.37:g.87536921G>C	ENSP00000265728:p.Val490Leu						p.V490L	NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN			12	1972	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	490					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.1468G>C	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.926783	0.00493	.	.	ENSG00000006634	ENST00000265728	T	0.31247	1.5	5.68	-11.4	0.00090	.	1.434700	0.04152	N	0.321578	T	0.17450	0.0419	N	0.19112	0.55	0.09310	N	1	B;B	0.17465	0.022;0.003	B;B	0.14023	0.01;0.004	T	0.32534	-0.9903	10	0.10636	T	0.68	-0.0393	17.3369	0.87283	0.2414:0.0858:0.6729:0.0	.	266;490	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	L	490	ENSP00000265728:V490L	ENSP00000265728:V490L	V	+	1	0	DBF4	87374857	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.706000	0.05047	-2.751000	0.00374	-0.768000	0.03414	GTA		0.368	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		6	103	0	0	0	1	0	6	103				
MROH9	80133	broad.mit.edu	37	1	170959063	170959063	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:170959063T>C	ENST00000367758.3	+	11	1046	c.947T>C	c.(946-948)tTg>tCg	p.L316S	MROH9_ENST00000367759.4_Missense_Mutation_p.L316S	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	316																	GATGTTATGTTGCAGGTTATC	0.438																																						ENST00000367759.4																			0											c.(946-948)tTg>tCg		maestro heat-like repeat family member 9							169.0	162.0	164.0					1																	170959063		1922	4143	6065	SO:0001583	missense	80133							g.chr1:170959063T>C	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.947T>C	1.37:g.170959063T>C	ENSP00000356732:p.Leu316Ser					MROH9_ENST00000367758.3_Missense_Mutation_p.L316S	p.L316S	NM_001163629.1	NP_001157101.1					11	1101	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.947T>C	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967274	0.53507	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.30182	3.63;1.54	5.18	5.18	0.71444	Armadillo-like helical (1);	0.135801	0.32287	N	0.006316	T	0.41328	0.1154	M	0.69823	2.125	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.38156	-0.9674	10	0.87932	D	0	-10.6885	11.419	0.49969	0.0:0.0:0.0:1.0	.	316;316	F5GWX6;Q5TGP6	.;CA129_HUMAN	S	316	ENSP00000356733:L316S;ENSP00000356732:L316S	ENSP00000356732:L316S	L	+	2	0	C1orf129	169225687	0.053000	0.20554	0.004000	0.12327	0.016000	0.09150	3.636000	0.54317	1.945000	0.56424	0.383000	0.25322	TTG		0.438	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		41	49	0	0	0	1	0	41	49				
EXOC3L1	283849	broad.mit.edu	37	16	67220718	67220718	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr16:67220718G>A	ENST00000314586.6	-	7	1468	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	KIAA0895L_ENST00000563902.1_5'Flank|KIAA0895L_ENST00000290881.7_5'Flank|KIAA0895L_ENST00000561621.1_5'Flank|EXOC3L1_ENST00000562887.1_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	410					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCTGTGTTGGGCCCATGCTCC	0.622																																						ENST00000314586.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(1228-1230)Ccc>Tcc		exocyst complex component 3-like 1							65.0	66.0	66.0					16																	67220718		2198	4300	6498	SO:0001583	missense	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67220718G>A	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1228C>T	16.37:g.67220718G>A	ENSP00000325674:p.Pro410Ser						p.P410S	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN			7	1468	-			410					A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	c.1228C>T	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491733	0.64074	.	.	ENSG00000179044	ENST00000314586	T	0.13657	2.57	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23297	-1.0192	10	0.66056	D	0.02	-15.3742	17.2668	0.87089	0.0:0.0:1.0:0.0	.	410	Q86VI1	EX3L1_HUMAN	S	410	ENSP00000325674:P410S	ENSP00000325674:P410S	P	-	1	0	EXOC3L1	65778219	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	7.524000	0.81866	2.428000	0.82296	0.449000	0.29647	CCC		0.622	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		36	51	0	0	0	1	0	36	51				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	56	0	0	0	1	0	5	56				
TBC1D4	9882	broad.mit.edu	37	13	76055681	76055681	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr13:76055681C>T	ENST00000377636.3	-	1	569	c.223G>A	c.(223-225)Ggg>Agg	p.G75R	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.G75R|TBC1D4_ENST00000377625.2_Missense_Mutation_p.G75R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	75	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		gccggcgccccgcagccgccc	0.751																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(223-225)Ggg>Agg		TBC1 domain family, member 4							7.0	9.0	8.0					13																	76055681		1756	3921	5677	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:76055681C>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.223G>A	13.37:g.76055681C>T	ENSP00000366863:p.Gly75Arg					TBC1D4_ENST00000431480.2_Missense_Mutation_p.G75R|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.G75R	p.G75R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	1	569	-		Prostate(6;0.014)|Breast(118;0.0982)	75			PID 1.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.223G>A	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242527	0.58995	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.28895	1.59;1.59;1.59	3.95	3.08	0.35506	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.294024	0.23422	N	0.048358	T	0.27765	0.0683	N	0.22421	0.69	0.80722	D	1	B;D;D	0.63046	0.242;0.992;0.971	B;P;B	0.51701	0.019;0.677;0.375	T	0.01874	-1.1256	10	0.30078	T	0.28	-10.1874	11.843	0.52366	0.0:0.9114:0.0:0.0886	.	75;75;75	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	R	75	ENSP00000366863:G75R;ENSP00000395986:G75R;ENSP00000366852:G75R	ENSP00000366852:G75R	G	-	1	0	TBC1D4	74953682	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.101000	0.31037	2.017000	0.59298	0.561000	0.74099	GGG		0.751	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		10	0	0	0	0	1	0	10	0				
ZDHHC9	51114	broad.mit.edu	37	X	128944944	128944944	+	Silent	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chrX:128944944C>T	ENST00000357166.6	-	10	1306	c.915G>A	c.(913-915)gaG>gaA	p.E305E	ZDHHC9_ENST00000371064.3_Silent_p.E305E	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	305					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TTCCACTTTCCTCCAGTGGCA	0.517																																						ENST00000357166.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						c.(913-915)gaG>gaA		zinc finger, DHHC-type containing 9							80.0	67.0	71.0					X																	128944944		2203	4300	6503	SO:0001819	synonymous_variant	51114					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chrX:128944944C>T	AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.915G>A	X.37:g.128944944C>T						ZDHHC9_ENST00000371064.3_Silent_p.E305E	p.E305E	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN			10	1306	-			305					B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Silent	SNP	ENST00000357166.6	37	c.915G>A	CCDS35395.1																																																																																				0.517	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032		10	4	0	0	0	1	0	10	4				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	110	0	0	0	1	0	5	110				
SGOL1	151648	broad.mit.edu	37	3	20215978	20215978	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr3:20215978G>A	ENST00000263753.4	-	6	1184	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000421451.1_Nonsense_Mutation_p.R349*|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000412997.1_Nonsense_Mutation_p.R349*|SGOL1_ENST00000437051.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412868.1_Nonsense_Mutation_p.R349*|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000419233.2_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	349					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ACTTTTTGTCGGAAAGGAGTA	0.373																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(1045-1047)Cga>Tga		shugoshin-like 1 (S. pombe)							125.0	112.0	116.0					3																	20215978		2203	4300	6503	SO:0001587	stop_gained	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20215978G>A	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.1045C>T	3.37:g.20215978G>A	ENSP00000263753:p.Arg349*					SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000263753.4_Nonsense_Mutation_p.R349*|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000421451.1_Nonsense_Mutation_p.R349*|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000412868.1_Nonsense_Mutation_p.R349*|SGOL1_ENST00000442720.1_Intron	p.R349*	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN			6	1396	-			349					Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Nonsense_Mutation	SNP	ENST00000263753.4	37	c.1045C>T	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	G	37	6.285850	0.97444	.	.	ENSG00000129810	ENST00000263753;ENST00000421451;ENST00000412997;ENST00000412868	.	.	.	5.76	4.89	0.63831	.	0.305062	0.32671	N	0.005793	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0647	0.59025	0.0743:0.0:0.9257:0.0	.	.	.	.	X	349	.	ENSP00000263753:R349X	R	-	1	2	SGOL1	20190982	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	3.944000	0.56629	1.446000	0.47643	0.561000	0.74099	CGA		0.373	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		4	134	0	0	0	1	0	4	134				
OSBPL3	26031	broad.mit.edu	37	7	24892244	24892244	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:24892244G>A	ENST00000313367.2	-	11	1488	c.1037C>T	c.(1036-1038)aCt>aTt	p.T346I	OSBPL3_ENST00000409069.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000353930.1_Missense_Mutation_p.T346I|OSBPL3_ENST00000396431.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000352860.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000431825.2_Missense_Mutation_p.T315I|OSBPL3_ENST00000396429.1_Missense_Mutation_p.T346I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	346					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TGACCTTAAAGTGAAGTAAAC	0.368																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1036-1038)aCt>aTt		oxysterol binding protein-like 3							51.0	46.0	47.0					7																	24892244		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24892244G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1037C>T	7.37:g.24892244G>A	ENSP00000315410:p.Thr346Ile					OSBPL3_ENST00000409069.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000431825.2_Missense_Mutation_p.T315I|OSBPL3_ENST00000396431.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000352860.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000396429.1_Missense_Mutation_p.T346I|OSBPL3_ENST00000353930.1_Missense_Mutation_p.T346I	p.T346I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			11	1488	-			346					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.1037C>T	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.304260	0.60305	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.44881	2.25;0.93;0.91;2.25;0.93;0.91;2.25	5.16	5.16	0.70880	.	0.231677	0.46145	D	0.000317	T	0.53706	0.1813	L	0.58101	1.795	0.47308	D	0.99938	P;P;B;P;B;B	0.44877	0.842;0.845;0.372;0.558;0.372;0.423	P;P;B;B;B;B	0.51355	0.603;0.667;0.339;0.415;0.387;0.236	T	0.48703	-0.9012	10	0.33940	T	0.23	-3.3502	18.6679	0.91499	0.0:0.0:1.0:0.0	.	315;346;315;315;346;346	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	I	346;315;346;315;315;346;315	ENSP00000315410:T346I;ENSP00000315331:T315I;ENSP00000315277:T346I;ENSP00000389779:T315I;ENSP00000379708:T315I;ENSP00000379706:T346I;ENSP00000386953:T315I	ENSP00000315410:T346I	T	-	2	0	OSBPL3	24858769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.363000	0.66104	2.420000	0.82092	0.561000	0.74099	ACT		0.368	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			10	57	0	0	0	1	0	10	57				
F5	2153	broad.mit.edu	37	1	169541549	169541549	+	Missense_Mutation	SNP	C	C	G	rs376110672		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:169541549C>G	ENST00000367797.3	-	3	484	c.283G>C	c.(283-285)Gga>Cga	p.G95R	F5_ENST00000546081.1_5'UTR|F5_ENST00000367796.3_Missense_Mutation_p.G95R	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	95	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ATGATGTCTCCGACTTCAGCA	0.363																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(283-285)Gga>Cga		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						67.0	69.0	69.0					1																	169541549		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169541549C>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.283G>C	1.37:g.169541549C>G	ENSP00000356771:p.Gly95Arg					F5_ENST00000367797.3_Missense_Mutation_p.G95R|F5_ENST00000546081.1_5'UTR	p.G95R			P12259	FA5_HUMAN			3	484	-	all_hematologic(923;0.208)		95			F5/8 type A 1.|Plastocyanin-like 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.283G>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189845	0.78789	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99548	-6.14;-6.14	5.54	5.54	0.83059	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99715	0.9890	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98342	1.0539	10	0.44086	T	0.13	-17.3605	16.9823	0.86332	0.0:1.0:0.0:0.0	.	95	P12259	FA5_HUMAN	R	95	ENSP00000356771:G95R;ENSP00000356770:G95R	ENSP00000356770:G95R	G	-	1	0	F5	167808173	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.812000	0.62613	2.609000	0.88269	0.563000	0.77884	GGA		0.363	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		5	55	0	0	0	1	0	5	55				
CUL9	23113	broad.mit.edu	37	6	43171608	43171608	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:43171608C>T	ENST00000252050.4	+	20	4126	c.4042C>T	c.(4042-4044)Cgc>Tgc	p.R1348C	CUL9_ENST00000354495.3_Missense_Mutation_p.R1238C|CUL9_ENST00000372647.2_Missense_Mutation_p.R1348C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1348					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGGGTTTTGCGCCACGAGCA	0.582																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(4042-4044)Cgc>Tgc		cullin 9							168.0	160.0	163.0					6																	43171608		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43171608C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4042C>T	6.37:g.43171608C>T	ENSP00000252050:p.Arg1348Cys					CUL9_ENST00000354495.3_Missense_Mutation_p.R1238C|CUL9_ENST00000372647.2_Missense_Mutation_p.R1348C	p.R1348C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			20	4126	+			1348					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.4042C>T	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076813	0.76415	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.75477	-0.94;-0.94;-0.82	5.37	4.44	0.53790	.	0.534882	0.21714	N	0.070239	T	0.77198	0.4095	L	0.52573	1.65	0.48341	D	0.999639	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.983;0.99;0.99	T	0.78828	-0.2050	10	0.87932	D	0	-24.8198	10.945	0.47296	0.1444:0.7162:0.1394:0.0	.	1238;1348;1348	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	C	1348;1238;1348	ENSP00000252050:R1348C;ENSP00000346490:R1238C;ENSP00000361730:R1348C	ENSP00000252050:R1348C	R	+	1	0	CUL9	43279586	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.185000	0.42584	2.659000	0.90383	0.655000	0.94253	CGC		0.582	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		4	242	0	0	0	1	0	4	242				
ART4	420	broad.mit.edu	37	12	14993733	14993733	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr12:14993733T>C	ENST00000228936.4	-	2	880	c.499A>G	c.(499-501)Atc>Gtc	p.I167V	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	167					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						AGCAGCTGGATTGCTGAGGTG	0.473																																						ENST00000228936.4																			0				large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						c.(499-501)Atc>Gtc		ADP-ribosyltransferase 4							108.0	104.0	105.0					12																	14993733		2203	4300	6503	SO:0001583	missense	420				arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr12:14993733T>C	X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.499A>G	12.37:g.14993733T>C	ENSP00000228936:p.Ile167Val					C12orf60_ENST00000527783.1_Intron	p.I167V	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN			2	880	-			167					Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	ENST00000228936.4	37	c.499A>G	CCDS8668.1	.	.	.	.	.	.	.	.	.	.	T	3.599	-0.081978	0.07141	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	T;T	0.07908	3.15;3.15	4.22	-1.14	0.09741	.	0.313774	0.34110	N	0.004244	T	0.05135	0.0137	L	0.28740	0.885	0.21105	N	0.999784	B;B	0.13145	0.007;0.007	B;B	0.18561	0.022;0.022	T	0.31364	-0.9946	10	0.37606	T	0.19	-4.0294	5.4367	0.16486	0.0:0.2435:0.2533:0.5032	.	167;167	A8K6J7;Q93070	.;NAR4_HUMAN	V	167;150	ENSP00000228936:I167V;ENSP00000405689:I150V	ENSP00000228936:I167V	I	-	1	0	ART4	14885000	0.023000	0.18921	0.851000	0.33527	0.335000	0.28730	-0.277000	0.08502	-0.480000	0.06803	-1.777000	0.00654	ATC		0.473	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071		29	56	0	0	0	1	0	29	56				
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr17:47696426A>C	ENST00000393328.2	-	6	762	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000393331.3_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Gtc		speckle-type POZ protein							119.0	121.0	120.0					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>G	17.37:g.47696426A>C	ENSP00000377001:p.Phe133Val	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V	p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550963	0.86127	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.94021	3.485	0.80722	D	1	P	0.35155	0.487	P	0.49637	0.617	T	0.74861	-0.3520	10	0.66056	D	0.02	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	V	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133V;ENSP00000377004:F133V;ENSP00000240327:F133V;ENSP00000425905:F133V;ENSP00000420908:F133V;ENSP00000426986:F133V;ENSP00000420960:F133V;ENSP00000426262:F133V;ENSP00000424119:F133V	ENSP00000240327:F133V	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		69	93	0	0	0	1	0	69	93				
MAD1L1	8379	broad.mit.edu	37	7	1937885	1937885	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:1937885C>T	ENST00000406869.1	-	18	2506	c.1949G>A	c.(1948-1950)cGg>cAg	p.R650Q	MAD1L1_ENST00000265854.7_Missense_Mutation_p.R650Q|MAD1L1_ENST00000402746.1_Missense_Mutation_p.R558Q|MAD1L1_ENST00000399654.2_Missense_Mutation_p.R650Q			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	650					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CGAGGTCAGCCGGTACTGGTT	0.617																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(1948-1950)cGg>cAg		MAD1 mitotic arrest deficient-like 1 (yeast)							122.0	146.0	138.0					7																	1937885		2174	4264	6438	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:1937885C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1949G>A	7.37:g.1937885C>T	ENSP00000385334:p.Arg650Gln					MAD1L1_ENST00000265854.7_Missense_Mutation_p.R650Q|MAD1L1_ENST00000402746.1_Missense_Mutation_p.R558Q|MAD1L1_ENST00000399654.2_Missense_Mutation_p.R650Q	p.R650Q			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	18	2506	-		Ovarian(82;0.0272)	650					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.1949G>A	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971591	0.74246	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000437877	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	M	0.64997	1.995	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.993;0.994;0.99	T	0.59484	-0.7446	10	0.62326	D	0.03	-46.1386	17.7612	0.88465	0.0:1.0:0.0:0.0	.	649;558;650	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	Q	558;650;650;201;650;201;106	ENSP00000384155:R558Q;ENSP00000382562:R650Q;ENSP00000385334:R650Q;ENSP00000265854:R650Q;ENSP00000394886:R201Q;ENSP00000394069:R106Q	ENSP00000265854:R650Q	R	-	2	0	MAD1L1	1904411	1.000000	0.71417	0.997000	0.53966	0.665000	0.39181	5.603000	0.67619	2.623000	0.88846	0.655000	0.94253	CGG		0.617	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		15	33	0	0	0	1	0	15	33				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	31	0	0	0	1	0	3	31				
HAUS4	54930	broad.mit.edu	37	14	23417142	23417142	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr14:23417142C>A	ENST00000206474.7	-	7	895	c.643G>T	c.(643-645)Gat>Tat	p.D215Y	HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000555367.1_Missense_Mutation_p.D170Y|HAUS4_ENST00000342454.8_Missense_Mutation_p.D170Y|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000541587.1_Missense_Mutation_p.D215Y|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.G44V|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000347758.2_Intron|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000490506.1_Missense_Mutation_p.D91Y|HAUS4_ENST00000555986.1_Missense_Mutation_p.D170Y			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	215					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CTCTTGGCATCCTGGCACTGC	0.552																																						ENST00000206474.7																			0				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						c.(643-645)Gat>Tat		HAUS augmin-like complex, subunit 4							87.0	72.0	77.0					14																	23417142		2203	4300	6503	SO:0001583	missense	54930				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr14:23417142C>A	AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"""HAUS augmin-like complex subunits"""	20163	protein-coding gene	gene with protein product		613431	"""chromosome 14 open reading frame 94"""	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.643G>T	14.37:g.23417142C>A	ENSP00000206474:p.Asp215Tyr					RP11-298I3.1_ENST00000548322.1_RNA|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000490506.1_Missense_Mutation_p.D91Y|HAUS4_ENST00000555986.1_Missense_Mutation_p.D170Y|HAUS4_ENST00000541587.1_Missense_Mutation_p.D215Y|HAUS4_ENST00000555367.1_Missense_Mutation_p.D170Y|HAUS4_ENST00000397409.4_Intron|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.G44V|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000342454.8_Missense_Mutation_p.D170Y	p.D215Y			Q9H6D7	HAUS4_HUMAN			7	895	-			215					B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	ENST00000206474.7	37	c.643G>T	CCDS9580.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.726893	0.69074	.	.	ENSG00000092036	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000342454;ENST00000555367;ENST00000555986;ENST00000555040	.	.	.	5.24	4.34	0.51931	.	0.247908	0.47455	D	0.000236	T	0.42698	0.1214	N	0.22421	0.69	0.80722	D	1	P;P	0.52692	0.891;0.955	B;P	0.47251	0.444;0.542	T	0.37753	-0.9692	9	0.52906	T	0.07	-3.5026	10.3007	0.43650	0.0:0.9052:0.0:0.0948	.	170;215	Q9H6D7-4;Q9H6D7	.;HAUS4_HUMAN	Y	215;91;215;170;170;170;215	.	ENSP00000206474:D215Y	D	-	1	0	HAUS4	22486982	0.871000	0.30034	1.000000	0.80357	0.995000	0.86356	1.011000	0.29911	2.456000	0.83038	0.585000	0.79938	GAT		0.552	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3			27	38	1	0	9.80776e-20	1	1.10337e-19	27	38				
GHRHR	2692	broad.mit.edu	37	7	31016135	31016135	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:31016135A>G	ENST00000326139.2	+	11	1112	c.1066A>G	c.(1066-1068)Atc>Gtc	p.I356V	GHRHR_ENST00000409904.3_Missense_Mutation_p.I292V|GHRHR_ENST00000409316.1_Missense_Mutation_p.H122R|GHRHR_ENST00000461424.1_3'UTR	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	356					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	TGGCCTGGGCATCCGCCTCCC	0.572																																						ENST00000409904.3																			0				biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(874-876)Atc>Gtc		growth hormone releasing hormone receptor	Sermorelin(DB00010)						53.0	46.0	48.0					7																	31016135		2203	4300	6503	SO:0001583	missense	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31016135A>G		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.1066A>G	7.37:g.31016135A>G	ENSP00000320180:p.Ile356Val					GHRHR_ENST00000326139.2_Missense_Mutation_p.I356V|GHRHR_ENST00000409316.1_Missense_Mutation_p.H122R|GHRHR_ENST00000461424.1_3'UTR	p.I292V			Q02643	GHRHR_HUMAN			8	1132	+			356					Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	c.874A>G	CCDS5432.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	3.277|3.277	-0.147942|-0.147942	0.06627|0.06627	.|.	.|.	ENSG00000106128|ENSG00000106128	ENST00000409233;ENST00000409316|ENST00000326139;ENST00000409904	.|T;T	.|0.40225	.|1.04;1.04	5.05|5.05	-4.61|-4.61	0.03380|0.03380	.|GPCR, family 2-like (1);	.|.	.|.	.|.	.|.	T|T	0.16685|0.16685	0.0401|0.0401	N|N	0.16098|0.16098	0.37|0.37	0.80722|0.80722	D|D	1|1	B|B;B	0.09022|0.09022	0.002|0.002;0.002	B|B;B	0.08055|0.10450	0.003|0.005;0.004	T|T	0.37776|0.37776	-0.9691|-0.9691	8|9	0.87932|0.06236	D|T	0|0.91	.|.	6.3329|6.3329	0.21281|0.21281	0.2947:0.3359:0.3693:0.0|0.2947:0.3359:0.3693:0.0	.|.	122|292;356	Q9HB43|Q9HB45;Q02643	.|.;GHRHR_HUMAN	R|V	143;122|356;292	.|ENSP00000320180:I356V;ENSP00000387113:I292V	ENSP00000386919:H143R|ENSP00000320180:I356V	H|I	+|+	2|1	0|0	GHRHR|GHRHR	30982660|30982660	0.000000|0.000000	0.05858|0.05858	0.820000|0.820000	0.32676|0.32676	0.975000|0.975000	0.68041|0.68041	-0.921000|-0.921000	0.04008|0.04008	-0.662000|-0.662000	0.05338|0.05338	0.446000|0.446000	0.29264|0.29264	CAT|ATC		0.572	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			11	21	0	0	0	1	0	11	21				
ZBED9	114821	broad.mit.edu	37	6	28554185	28554185	+	Silent	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:28554185G>A	ENST00000452236.2	-	1	927	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	RP5-1186N24.3_ENST00000499525.1_RNA|SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCCTCAGGCAGGATGGTCAGG	0.537																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(310-312)Ctg>Ttg		SCAN domain containing 3							113.0	115.0	114.0					6																	28554185		2203	4300	6503	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28554185G>A																												ENST00000452236.2:c.310C>T	6.37:g.28554185G>A						SCAND3_ENST00000530247.1_Intron	p.L104L	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			1	927	-			104			SCAN box.			Silent	SNP	ENST00000452236.2	37	c.310C>T	CCDS34355.1																																																																																				0.537	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			5	132	0	0	0	1	0	5	132				
SLC28A2	9153	broad.mit.edu	37	15	45555257	45555257	+	Splice_Site	SNP	A	A	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr15:45555257A>T	ENST00000347644.3	+	5	327		c.e5-1		CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2						nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TTCTCTTTTTAGCCTATGCTG	0.473																																					NSCLC(92;493 1501 26361 28917 47116)	ENST00000347644.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26						c.e5-1		solute carrier family 28 (concentrative nucleoside transporter), member 2							98.0	87.0	90.0					15																	45555257		2198	4298	6496	SO:0001630	splice_region_variant	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45555257A>T	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.263-1A>T	15.37:g.45555257A>T						CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA		NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	5	327	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)						A8K7F9|O43239|Q52LZ0	Splice_Site	SNP	ENST00000347644.3	37		CCDS10121.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692461	0.68271	.	.	ENSG00000137860	ENST00000347644	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1486	0.65367	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC28A2	43342549	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	7.835000	0.86780	2.232000	0.73038	0.528000	0.53228	.		0.473	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212	Intron	13	52	0	0	0	1	0	13	52				
RBMXL1	494115	broad.mit.edu	37	1	89448492	89448492	+	Silent	SNP	T	T	G			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:89448492T>G	ENST00000321792.5	-	2	1445	c.1018A>C	c.(1018-1020)Agg>Cgg	p.R340R	CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Silent_p.R340R|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'Flank	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	340	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CTGCCAACCCTGTCACAACTT	0.507																																						ENST00000399794.2																			0											c.(1018-1020)Agg>Cgg		RNA binding motif protein, X-linked-like 1							180.0	181.0	181.0					1																	89448492		2203	4300	6503	SO:0001819	synonymous_variant	494115						nucleotide binding|RNA binding	g.chr1:89448492T>G	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.1018A>C	1.37:g.89448492T>G						CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Silent_p.R340R|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron	p.R340R	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	1733	-			340			Ser-rich.			Silent	SNP	ENST00000321792.5	37	c.1018A>C	CCDS716.1																																																																																				0.507	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		5	188	0	0	0	1	0	5	188				
DLEC1	9940	broad.mit.edu	37	3	38158019	38158019	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr3:38158019G>C	ENST00000308059.6	+	28	3953	c.3932G>C	c.(3931-3933)gGg>gCg	p.G1311A	DLEC1_ENST00000346219.3_Missense_Mutation_p.G1311A|DLEC1_ENST00000452631.2_Missense_Mutation_p.G1314A					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTGTTTTATGGGCCACCTTTC	0.612																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(3931-3933)gGg>gCg		deleted in lung and esophageal cancer 1							47.0	51.0	50.0					3																	38158019		1998	4160	6158	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38158019G>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.3932G>C	3.37:g.38158019G>C	ENSP00000308597:p.Gly1311Ala					DLEC1_ENST00000452631.2_Missense_Mutation_p.G1314A|DLEC1_ENST00000346219.3_Missense_Mutation_p.G1311A	p.G1311A			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	28	3953	+			1311						Missense_Mutation	SNP	ENST00000308059.6	37	c.3932G>C	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852242	0.71719	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.11385	2.82;2.78;3.05	5.08	5.08	0.68730	.	0.219002	0.37761	N	0.001958	T	0.35480	0.0933	M	0.77103	2.36	0.58432	D	0.99999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.994;0.996;0.996;0.994	T	0.08371	-1.0725	10	0.49607	T	0.09	-30.8823	17.234	0.86992	0.0:0.0:1.0:0.0	.	1314;1311;1311;1311	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	A	1311;1311;1314	ENSP00000308597:G1311A;ENSP00000315914:G1311A;ENSP00000410427:G1314A	ENSP00000308597:G1311A	G	+	2	0	DLEC1	38133023	1.000000	0.71417	0.947000	0.38551	0.496000	0.33645	7.649000	0.83500	2.357000	0.79964	0.462000	0.41574	GGG		0.612	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		31	27	0	0	0	1	0	31	27				
EYS	346007	broad.mit.edu	37	6	66204918	66204918	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:66204918C>T	ENST00000370621.3	-	4	912	c.386G>A	c.(385-387)aGa>aAa	p.R129K	EYS_ENST00000503581.1_Missense_Mutation_p.R129K|EYS_ENST00000370616.2_Missense_Mutation_p.R129K|EYS_ENST00000342421.5_Missense_Mutation_p.R129K|EYS_ENST00000370618.3_Missense_Mutation_p.R129K|EYS_ENST00000393380.2_Missense_Mutation_p.R129K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	129					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCTTTTAGTCTGCAGCCAAA	0.393																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(385-387)aGa>aAa		eyes shut homolog (Drosophila)							72.0	65.0	67.0					6																	66204918		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204918C>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.386G>A	6.37:g.66204918C>T	ENSP00000359655:p.Arg129Lys					EYS_ENST00000342421.5_Missense_Mutation_p.R129K|EYS_ENST00000370618.3_Missense_Mutation_p.R129K|EYS_ENST00000393380.2_Missense_Mutation_p.R129K|EYS_ENST00000370616.2_Missense_Mutation_p.R129K|EYS_ENST00000370621.3_Missense_Mutation_p.R129K	p.R129K	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	923	-			129					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.386G>A		.	.	.	.	.	.	.	.	.	.	C	1.684	-0.505724	0.04261	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;D;D;D	0.89270	-1.49;-1.48;-1.48;-2.49;-2.45;-2.45	4.92	2.55	0.30701	.	.	.	.	.	T	0.44540	0.1298	N	0.02539	-0.55	0.09310	N	0.999997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.49513	-0.8932	9	0.02654	T	1	.	7.5679	0.27890	0.0:0.1467:0.0:0.8533	.	129;129;129	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	K	129	ENSP00000424243:R129K;ENSP00000359655:R129K;ENSP00000359650:R129K;ENSP00000377042:R129K;ENSP00000341818:R129K;ENSP00000359652:R129K	ENSP00000341818:R129K	R	-	2	0	EYS	66261639	0.905000	0.30787	0.067000	0.19924	0.913000	0.54294	1.423000	0.34837	0.320000	0.23234	-0.229000	0.12294	AGA		0.393	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		12	16	0	0	0	1	0	12	16				
DTX4	23220	broad.mit.edu	37	11	58958631	58958631	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr11:58958631C>T	ENST00000227451.3	+	5	1308	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Missense_Mutation_p.R296W	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	402					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				ACAGAAAGTCCGGCACCCACC	0.493																																						ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1204-1206)Cgg>Tgg		deltex homolog 4 (Drosophila)							38.0	37.0	37.0					11																	58958631		1889	4095	5984	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58958631C>T	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1204C>T	11.37:g.58958631C>T	ENSP00000227451:p.Arg402Trp					DTX4_ENST00000532982.1_Missense_Mutation_p.R296W|DTX4_ENST00000531902.1_3'UTR	p.R402W	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			5	1308	+		all_epithelial(135;0.125)	402					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.1204C>T	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822621	0.71028	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.68479	-0.33;-0.33	5.48	5.48	0.80851	.	0.077747	0.50627	D	0.000107	T	0.74801	0.3764	L	0.47716	1.5	0.50313	D	0.999866	D	0.89917	1.0	D	0.65573	0.936	T	0.76761	-0.2840	10	0.87932	D	0	-15.1084	13.1325	0.59391	0.1602:0.8398:0.0:0.0	.	402	Q9Y2E6	DTX4_HUMAN	W	296;402	ENSP00000434055:R296W;ENSP00000227451:R402W	ENSP00000227451:R402W	R	+	1	2	DTX4	58715207	0.345000	0.24835	1.000000	0.80357	0.967000	0.64934	1.011000	0.29911	2.583000	0.87209	0.563000	0.77884	CGG		0.493	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		5	2	0	0	0	1	0	5	2				
SYNDIG1	79953	broad.mit.edu	37	20	24565546	24565546	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr20:24565546C>T	ENST00000376862.3	+	3	1168	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	SYNDIG1_ENST00000482637.1_3'UTR	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	179					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GATGCCCCCGCGGGACCACCT	0.552																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(535-537)Cgg>Tgg		synapse differentiation inducing 1							138.0	126.0	130.0					20																	24565546		2203	4300	6503	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24565546C>T	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.535C>T	20.37:g.24565546C>T	ENSP00000366058:p.Arg179Trp					SYNDIG1_ENST00000482637.1_3'UTR	p.R179W	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			3	1168	+			179					Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.535C>T	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090311	0.36855	.	.	ENSG00000101463	ENST00000376862	D	0.87334	-2.24	5.1	1.96	0.26148	.	0.000000	0.64402	D	0.000001	D	0.90109	0.6910	M	0.62723	1.935	0.47778	D	0.99951	D	0.89917	1.0	D	0.79784	0.993	D	0.87443	0.2396	10	0.87932	D	0	-28.9413	6.8243	0.23874	0.4981:0.4176:0.0:0.0843	.	179	Q9H7V2	SYNG1_HUMAN	W	179	ENSP00000366058:R179W	ENSP00000366058:R179W	R	+	1	2	SYNDIG1	24513546	0.000000	0.05858	0.235000	0.24058	0.250000	0.25880	-0.503000	0.06383	0.129000	0.18514	0.561000	0.74099	CGG		0.552	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		22	109	0	0	0	1	0	22	109				
HSPG2	3339	broad.mit.edu	37	1	22168751	22168751	+	Silent	SNP	G	G	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:22168751G>T	ENST00000374695.3	-	68	9112	c.9033C>A	c.(9031-9033)ccC>ccA	p.P3011P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3011	Ig-like C2-type 15.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACCCCTCACTGGGCGGGACGG	0.652																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(9031-9033)ccC>ccA		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						58.0	54.0	55.0					1																	22168751		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22168751G>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9033C>A	1.37:g.22168751G>T							p.P3011P	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	68	9112	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3011			Ig-like C2-type 15.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.9033C>A	CCDS30625.1																																																																																				0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	54	1	0	0.00024832	1	0.000260736	4	54				
ANKRD49	54851	broad.mit.edu	37	11	94231465	94231465	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr11:94231465C>A	ENST00000544612.1	+	3	984	c.487C>A	c.(487-489)Cat>Aat	p.H163N	ANKRD49_ENST00000302755.4_Missense_Mutation_p.H163N|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000538535.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	163					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTACTGCAGCATGATGCAGA	0.512																																					Melanoma(113;823 1621 4352 9582 22033)	ENST00000544612.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12						c.(487-489)Cat>Aat		ankyrin repeat domain 49							91.0	81.0	84.0					11																	94231465		2201	4298	6499	SO:0001583	missense	54851				positive regulation of transcription, DNA-dependent			g.chr11:94231465C>A	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.487C>A	11.37:g.94231465C>A	ENSP00000440396:p.His163Asn					ANKRD49_ENST00000302755.4_Missense_Mutation_p.H163N|ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000544253.1_3'UTR	p.H163N	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN			3	984	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	163					Q8NDF2|Q96JE5|Q9NXK7	Missense_Mutation	SNP	ENST00000544612.1	37	c.487C>A	CCDS8300.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162509	0.38217	.	.	ENSG00000168876	ENST00000544612;ENST00000535502;ENST00000302755	T;T;T	0.66460	-0.21;-0.21;-0.21	5.88	5.88	0.94601	Ankyrin repeat-containing domain (4);	0.387236	0.32671	N	0.005792	T	0.58352	0.2116	L	0.27975	0.815	0.49130	D	0.99975	B	0.14012	0.009	B	0.17098	0.017	T	0.49725	-0.8909	10	0.33940	T	0.23	-13.3524	20.2187	0.98312	0.0:1.0:0.0:0.0	.	163	Q8WVL7	ANR49_HUMAN	N	163;122;163	ENSP00000440396:H163N;ENSP00000442449:H122N;ENSP00000303518:H163N	ENSP00000303518:H163N	H	+	1	0	ANKRD49	93871113	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	3.488000	0.53229	2.780000	0.95670	0.655000	0.94253	CAT		0.512	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		17	46	1	0	6.49762e-13	1	7.05776e-13	17	46				
DDO	8528	broad.mit.edu	37	6	110726001	110726001	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:110726001G>A	ENST00000368924.3	-	4	533	c.518C>T	c.(517-519)gCc>gTc	p.A173V	DDO_ENST00000368923.3_Intron	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	145					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CGGGAGGTAGGCAGGGCATTC	0.433																																						ENST00000368924.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24						c.(517-519)gCc>gTc		D-aspartate oxidase							98.0	91.0	94.0					6																	110726001		2203	4300	6503	SO:0001583	missense	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110726001G>A	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.518C>T	6.37:g.110726001G>A	ENSP00000357920:p.Ala173Val					DDO_ENST00000368925.1_Missense_Mutation_p.A145V|DDO_ENST00000368923.3_Intron	p.A173V	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	4	533	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	145					A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	ENST00000368924.3	37	c.518C>T	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823336	0.32237	.	.	ENSG00000203797	ENST00000368924;ENST00000368925	D;D	0.81996	-1.56;-1.56	5.62	-0.218	0.13142	.	0.836675	0.11250	N	0.583692	T	0.36608	0.0973	N	0.03000	-0.44	0.19300	N	0.99997	B	0.02656	0.0	B	0.06405	0.002	T	0.37888	-0.9686	10	0.12766	T	0.61	-1.4661	10.9066	0.47084	0.5021:0.0:0.4979:0.0	.	173	Q99489-3	.	V	173;145	ENSP00000357920:A173V;ENSP00000357921:A145V	ENSP00000357920:A173V	A	-	2	0	DDO	110832694	0.004000	0.15560	0.121000	0.21740	0.906000	0.53458	0.120000	0.15647	-0.127000	0.11661	0.561000	0.74099	GCC		0.433	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			20	3	0	0	0	1	0	20	3				
BBS9	27241	broad.mit.edu	37	7	33296923	33296923	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:33296923G>T	ENST00000242067.6	+	6	1039	c.518G>T	c.(517-519)aGa>aTa	p.R173I	BBS9_ENST00000396127.2_Missense_Mutation_p.R173I|BBS9_ENST00000425508.2_Missense_Mutation_p.R128I|BBS9_ENST00000355070.2_Missense_Mutation_p.R173I|BBS9_ENST00000354265.4_Missense_Mutation_p.R173I|BBS9_ENST00000350941.3_Missense_Mutation_p.R173I	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	173					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCTTTTGGAAGATTTCTCCCT	0.428									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(517-519)aGa>aTa		Bardet-Biedl syndrome 9							178.0	170.0	173.0					7																	33296923		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33296923G>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.518G>T	7.37:g.33296923G>T	ENSP00000242067:p.Arg173Ile					BBS9_ENST00000425508.2_Missense_Mutation_p.R128I|BBS9_ENST00000396127.2_Missense_Mutation_p.R173I|BBS9_ENST00000355070.2_Missense_Mutation_p.R173I|BBS9_ENST00000354265.4_Missense_Mutation_p.R173I|BBS9_ENST00000350941.3_Missense_Mutation_p.R173I	p.R173I	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		6	1039	+			173					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.518G>T	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	34	5.344717	0.95807	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000442858;ENST00000537775	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.91536	0.7327	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.80764	0.983;0.994;0.994;0.994;0.991	D	0.89140	0.3516	10	0.31617	T	0.26	-18.4266	20.2019	0.98263	0.0:0.0:1.0:0.0	.	173;173;173;173;173	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	I	173;173;173;173;173;173;173;128;51;51	ENSP00000242067:R173I;ENSP00000313122:R173I;ENSP00000379433:R173I;ENSP00000347182:R173I;ENSP00000346214:R173I;ENSP00000405151:R128I;ENSP00000388646:R51I	ENSP00000242067:R173I	R	+	2	0	BBS9	33263448	1.000000	0.71417	0.931000	0.37212	0.914000	0.54420	9.837000	0.99465	2.776000	0.95493	0.655000	0.94253	AGA		0.428	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			39	69	1	0	1.96642e-18	1	2.17341e-18	39	69				
DOCK4	9732	broad.mit.edu	37	7	111629104	111629104	+	Missense_Mutation	SNP	G	G	A	rs202157965		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:111629104G>A	ENST00000437633.1	-	6	686	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.R144C	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	144					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.R132C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTAATGTGGCGCTTCACGTCC	0.572																																						ENST00000428084.1																			1	Substitution - Missense(1)	p.R132C(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(430-432)Cgc>Tgc		dedicator of cytokinesis 4		G	CYS/ARG	0,4152		0,0,2076	65.0	67.0	66.0		430	4.8	1.0	7		66	3,8389		0,3,4193	yes	missense	DOCK4	NM_014705.3	180	0,3,6269	AA,AG,GG		0.0357,0.0,0.0239	possibly-damaging	144/1967	111629104	3,12541	2076	4196	6272	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111629104G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.430C>T	7.37:g.111629104G>A	ENSP00000404179:p.Arg144Cys					DOCK4_ENST00000437633.1_Missense_Mutation_p.R144C|DOCK4_ENST00000476846.1_5'UTR	p.R144C			Q8N1I0	DOCK4_HUMAN			6	702	-		Acute lymphoblastic leukemia(1;0.0441)	144					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.430C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536147	0.85812	0.0	3.57E-4	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.03181	4.02;4.02	5.76	4.85	0.62838	.	0.117594	0.64402	D	0.000013	T	0.11153	0.0272	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	P;P;P;P	0.55455	0.586;0.776;0.772;0.696	T	0.00115	-1.2039	10	0.72032	D	0.01	.	13.1119	0.59278	0.0:0.0:0.7138:0.2862	.	144;144;144;144	A4D0S8;Q149N6;Q149N5;Q8N1I0	.;.;.;DOCK4_HUMAN	C	132;144;144;132;143	ENSP00000410746:R144C;ENSP00000404179:R144C	ENSP00000345432:R132C	R	-	1	0	DOCK4	111416340	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.688000	0.74557	2.706000	0.92434	0.655000	0.94253	CGC		0.572	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		13	17	0	0	0	1	0	13	17				
OR10P1	121130	broad.mit.edu	37	12	56031259	56031259	+	Missense_Mutation	SNP	G	G	A	rs374333859		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr12:56031259G>A	ENST00000309675.2	+	1	616	c.584G>A	c.(583-585)aGg>aAg	p.R195K	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GGGAAGCACAGGAGCGAGATC	0.532																																						ENST00000309675.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(583-585)aGg>aAg		olfactory receptor, family 10, subfamily P, member 1		G	LYS/ARG	0,4406		0,0,2203	120.0	93.0	102.0		584	-2.0	0.0	12		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR10P1	NM_206899.1	26	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	195/314	56031259	1,13005	2203	4300	6503	SO:0001583	missense	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56031259G>A	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.584G>A	12.37:g.56031259G>A	ENSP00000308082:p.Arg195Lys						p.R195K	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN			1	616	+			195					B9EGY4	Missense_Mutation	SNP	ENST00000309675.2	37	c.584G>A	CCDS31828.1	.	.	.	.	.	.	.	.	.	.	G	0.962	-0.702873	0.03255	0.0	1.16E-4	ENSG00000175398	ENST00000309675	T	0.00084	8.75	4.44	-2.05	0.07321	GPCR, rhodopsin-like superfamily (1);	0.521251	0.17730	N	0.163921	T	0.00073	0.0002	N	0.05554	-0.025	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.20974	-1.0259	10	0.40728	T	0.16	.	3.2501	0.06811	0.3424:0.0:0.3642:0.2934	.	195	Q8NGE3	O10P1_HUMAN	K	195	ENSP00000308082:R195K	ENSP00000308082:R195K	R	+	2	0	OR10P1	54317526	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.172000	0.01266	-0.542000	0.06249	-1.108000	0.02087	AGG		0.532	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			28	60	0	0	0	1	0	28	60				
NSD1	64324	broad.mit.edu	37	5	176696757	176696757	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr5:176696757G>A	ENST00000439151.2	+	16	5503	c.5458G>A	c.(5458-5460)Gtg>Atg	p.V1820M	NSD1_ENST00000354179.4_Missense_Mutation_p.V1551M|NSD1_ENST00000361032.4_Missense_Mutation_p.V1717M|NSD1_ENST00000347982.4_Missense_Mutation_p.V1551M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1820					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGAGGGTGACGTGAGCAGCAA	0.453			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(5458-5460)Gtg>Atg		nuclear receptor binding SET domain protein 1							120.0	112.0	115.0					5																	176696757		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176696757G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5458G>A	5.37:g.176696757G>A	ENSP00000395929:p.Val1820Met	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.V1717M|NSD1_ENST00000354179.4_Missense_Mutation_p.V1551M|NSD1_ENST00000347982.4_Missense_Mutation_p.V1551M	p.V1820M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	16	5503	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1820					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.5458G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675488	0.88445	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032;ENST00000508029;ENST00000503056;ENST00000515735	T;T;T;T;D;T;T	0.89123	-0.5;-0.5;-0.5;-0.5;-2.47;-0.5;1.52	5.38	5.38	0.77491	PWWP (1);	0.000000	0.53938	D	0.000054	D	0.90786	0.7107	N	0.22421	0.69	0.37258	D	0.90686	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73380	0.977;0.965;0.98	D	0.92320	0.5865	10	0.51188	T	0.08	.	19.4967	0.95075	0.0:0.0:1.0:0.0	.	1551;1717;1820	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	M	1551;1820;1551;1717;34;34;34	ENSP00000346111:V1551M;ENSP00000395929:V1820M;ENSP00000343209:V1551M;ENSP00000354310:V1717M;ENSP00000425120:V34M;ENSP00000424024:V34M;ENSP00000423048:V34M	ENSP00000343209:V1551M	V	+	1	0	NSD1	176629363	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.660000	0.74417	2.678000	0.91216	0.585000	0.79938	GTG		0.453	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		29	45	0	0	0	1	0	29	45				
KCNA3	3738	broad.mit.edu	37	1	111217006	111217006	+	Silent	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:111217006C>T	ENST00000369769.2	-	1	649	c.426G>A	c.(424-426)ccG>ccA	p.P142P		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	142					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CGTTGCGGAGCGGGTCGAAGT	0.652																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(424-426)ccG>ccA		potassium voltage-gated channel, shaker-related subfamily, member 3							58.0	67.0	64.0					1																	111217006		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111217006C>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.426G>A	1.37:g.111217006C>T							p.P142P	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	649	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	142					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.426G>A	CCDS828.2																																																																																				0.652	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		6	110	0	0	0	1	0	6	110				
RP11-24M17.5	0	broad.mit.edu	37	15	76074504	76074504	+	RNA	SNP	C	C	T	rs146281026	byFrequency	TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr15:76074504C>T	ENST00000395215.3	+	0	683				RN7SL319P_ENST00000480656.2_RNA																							TGAACGCACACGTGACACAGG	0.572													.|||	95	0.0189696	0.0121	0.0159	5008	,	,		16950	0.0635		0.001	False		,,,				2504	0.0031					ENST00000395215.3																			0																																																			0							g.chr15:76074504C>T																													15.37:g.76074504C>T														0	683	+									RNA	SNP	ENST00000395215.3	37																																																																																						0.572	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			3	35	0	0	0	1	0	3	35				
SSTR4	6754	broad.mit.edu	37	20	23016391	23016391	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr20:23016391G>A	ENST00000255008.3	+	1	335	c.271G>A	c.(271-273)Gta>Ata	p.V91I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	91					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CAACCTGGCCGTAGCCGACGA	0.657																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(271-273)Gta>Ata		somatostatin receptor 4							114.0	121.0	119.0					20																	23016391		2202	4300	6502	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016391G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.271G>A	20.37:g.23016391G>A	ENSP00000255008:p.Val91Ile					RP4-753D10.3_ENST00000440921.1_RNA	p.V91I	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	335	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		91					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.271G>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.522868	0.00967	.	.	ENSG00000132671	ENST00000255008	T	0.19532	2.14	3.32	-1.99	0.07457	GPCR, rhodopsin-like superfamily (1);	0.231983	0.27159	N	0.020642	T	0.06554	0.0168	N	0.05306	-0.075	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.40232	-0.9574	10	0.02654	T	1	.	8.265	0.31808	0.759:0.0:0.241:0.0	.	91	P31391	SSR4_HUMAN	I	91	ENSP00000255008:V91I	ENSP00000255008:V91I	V	+	1	0	SSTR4	22964391	0.580000	0.26733	0.037000	0.18230	0.599000	0.36880	0.339000	0.19875	-0.229000	0.09854	-0.367000	0.07326	GTA		0.657	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			5	167	0	0	0	1	0	5	167				
WBP11	51729	broad.mit.edu	37	12	14940329	14940329	+	Silent	SNP	C	C	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr12:14940329C>A	ENST00000261167.2	-	12	1829	c.1596G>T	c.(1594-1596)ggG>ggT	p.G532G		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	532	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CACTTAAAACCCCAGGGTTTG	0.592																																						ENST00000261167.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(1594-1596)ggG>ggT		WW domain binding protein 11							145.0	153.0	150.0					12																	14940329		2203	4300	6503	SO:0001819	synonymous_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14940329C>A	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1596G>T	12.37:g.14940329C>A						WBP11_ENST00000537574.1_Silent_p.G498G	p.G532G	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN			12	1829	-			532			Pro-rich.		Q96AY8	Silent	SNP	ENST00000261167.2	37	c.1596G>T	CCDS8666.1																																																																																				0.592	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		129	156	1	0	1.49705e-65	1	1.74655e-65	129	156				
LILRB5	10990	broad.mit.edu	37	19	54760504	54760504	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr19:54760504G>A	ENST00000316219.5	-	3	310	c.203C>T	c.(202-204)gCc>gTc	p.A68V	LILRB5_ENST00000450632.1_Missense_Mutation_p.A68V|LILRB5_ENST00000449561.2_Missense_Mutation_p.A68V|LILRB5_ENST00000345866.6_Missense_Mutation_p.A68V	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	68	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTCTTCCGGGCCCATGGGAG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(202-204)gCc>gTc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							178.0	169.0	172.0					19																	54760504		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760504G>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.203C>T	19.37:g.54760504G>A	ENSP00000320390:p.Ala68Val					LILRB5_ENST00000345866.6_Missense_Mutation_p.A68V|LILRB5_ENST00000316219.5_Missense_Mutation_p.A68V|LILRB5_ENST00000449561.2_Missense_Mutation_p.A68V	p.A68V			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	280	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		68			Ig-like C2-type 1.		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.203C>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	7.102	0.574339	0.13623	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	2.87	-0.753	0.11068	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.10508	0.0257	N	0.25485	0.75	0.09310	N	1	B;B;B;B;B	0.32071	0.157;0.355;0.289;0.035;0.01	B;B;B;B;B	0.41946	0.158;0.371;0.177;0.05;0.103	T	0.40869	-0.9540	9	0.38643	T	0.18	.	2.2345	0.04004	0.3011:0.0:0.4516:0.2474	.	68;59;68;68;68	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	V	68	ENSP00000320390:A68V;ENSP00000414225:A68V;ENSP00000406478:A68V;ENSP00000263430:A68V	ENSP00000320390:A68V	A	-	2	0	LILRB5	59452316	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.451000	0.01006	0.079000	0.16929	-0.335000	0.08231	GCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			39	156	0	0	0	1	0	39	156				
ERBB2	2064	broad.mit.edu	37	17	37883719	37883719	+	Missense_Mutation	SNP	C	C	T	rs143958183		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr17:37883719C>T	ENST00000269571.5	+	26	3490	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	ERBB2_ENST00000541774.1_Missense_Mutation_p.R1096W|MIEN1_ENST00000474210.1_5'Flank|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000540147.1_Missense_Mutation_p.R1081W|ERBB2_ENST00000584450.1_Intron|ERBB2_ENST00000406381.2_Missense_Mutation_p.R1081W|ERBB2_ENST00000445658.2_Missense_Mutation_p.R835W|ERBB2_ENST00000584601.1_Missense_Mutation_p.R1081W			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1111					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CCCTCTACAGCGGTACAGTGA	0.622		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(3241-3243)Cgg>Tgg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	58.0	60.0	59.0		3241,3331	4.2	1.0	17	dbSNP_134	59	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ERBB2	NM_001005862.1,NM_004448.2	101,101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1081/1226,1111/1256	37883719	2,13004	2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37883719C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3331C>T	17.37:g.37883719C>T	ENSP00000269571:p.Arg1111Trp	TCGA GBM(5;<1E-08)				ERBB2_ENST00000584450.1_Intron|ERBB2_ENST00000445658.2_Missense_Mutation_p.R835W|ERBB2_ENST00000584601.1_Missense_Mutation_p.R1081W|ERBB2_ENST00000541774.1_Missense_Mutation_p.R1096W|ERBB2_ENST00000540147.1_Missense_Mutation_p.R1081W|ERBB2_ENST00000269571.5_Missense_Mutation_p.R1111W	p.R1081W	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	28	3751	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	1111					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.3241C>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059451	0.76074	0.0	2.33E-4	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.80214	-1.33;-1.34;-1.35;-1.34;-1.33	5.2	4.22	0.49857	.	.	.	.	.	D	0.89536	0.6743	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.994;0.999	D	0.90661	0.4590	9	0.87932	D	0	.	13.1099	0.59267	0.1608:0.8392:0.0:0.0	.	835;1096;1111	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	W	1081;1096;835;1111;1081	ENSP00000385185:R1081W;ENSP00000446466:R1096W;ENSP00000404047:R835W;ENSP00000269571:R1111W;ENSP00000443562:R1081W	ENSP00000269571:R1111W	R	+	1	2	ERBB2	35137245	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.018000	0.49625	1.159000	0.42565	0.561000	0.74099	CGG		0.622	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			30	40	0	0	0	1	0	30	40				
FAM47C	442444	broad.mit.edu	37	X	37028251	37028251	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chrX:37028251C>T	ENST00000358047.3	+	1	1820	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	590										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCAAGACTCGGGTGTCCAG	0.657																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1768-1770)Cgg>Tgg		family with sequence similarity 47, member C							28.0	34.0	32.0					X																	37028251		2200	4290	6490	SO:0001583	missense	442444							g.chrX:37028251C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1768C>T	X.37:g.37028251C>T	ENSP00000367913:p.Arg590Trp						p.R590W	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1820	+			590					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1768C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	15.28	2.785935	0.49997	.	.	ENSG00000198173	ENST00000358047	T	0.16597	2.33	1.71	0.597	0.17504	.	.	.	.	.	T	0.13884	0.0336	M	0.63428	1.95	0.09310	N	1	D	0.61080	0.989	B	0.34991	0.193	T	0.17501	-1.0367	9	0.87932	D	0	.	7.413	0.27027	0.0:0.7287:0.2713:0.0	.	590	Q5HY64	FA47C_HUMAN	W	590	ENSP00000367913:R590W	ENSP00000367913:R590W	R	+	1	2	FAM47C	36938172	0.001000	0.12720	0.003000	0.11579	0.141000	0.21300	-0.437000	0.06914	-0.098000	0.12285	0.418000	0.28097	CGG		0.657	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	62	0	0	0	1	0	5	62				
ILDR2	387597	broad.mit.edu	37	1	166890544	166890544	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:166890544G>C	ENST00000271417.3	-	9	1339	c.1284C>G	c.(1282-1284)gaC>gaG	p.D428E	ILDR2_ENST00000529071.1_Missense_Mutation_p.D409E|ILDR2_ENST00000528703.1_Missense_Mutation_p.D369E|ILDR2_ENST00000526687.1_Missense_Mutation_p.D320E|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000525740.1_Missense_Mutation_p.D301E	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	428					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CCGCCAGCTCGTCCATGGAAA	0.711																																						ENST00000271417.3																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(1282-1284)gaC>gaG		immunoglobulin-like domain containing receptor 2							15.0	18.0	17.0					1																	166890544		2187	4271	6458	SO:0001583	missense	387597					integral to membrane		g.chr1:166890544G>C	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1284C>G	1.37:g.166890544G>C	ENSP00000271417:p.Asp428Glu					ILDR2_ENST00000525740.1_Missense_Mutation_p.D301E|ILDR2_ENST00000526687.1_Missense_Mutation_p.D320E|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.D369E|ILDR2_ENST00000529071.1_Missense_Mutation_p.D409E	p.D428E	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN			9	1339	-			428						Missense_Mutation	SNP	ENST00000271417.3	37	c.1284C>G	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850155	0.51270	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529071;ENST00000526687;ENST00000528703	T;D;T;D;T	0.84730	0.1;-1.89;0.03;-1.88;-0.82	4.37	-0.477	0.12097	.	0.112612	0.64402	D	0.000017	T	0.66386	0.2784	M	0.64997	1.995	0.34697	D	0.726355	B	0.31077	0.307	B	0.32864	0.154	T	0.53187	-0.8474	10	0.21014	T	0.42	.	7.5721	0.27913	0.3437:0.1217:0.5346:0.0	.	428	Q71H61	ILDR2_HUMAN	E	428;301;409;320;369	ENSP00000271417:D428E;ENSP00000436120:D301E;ENSP00000436882:D409E;ENSP00000434273:D320E;ENSP00000432750:D369E	ENSP00000271417:D428E	D	-	3	2	ILDR2	165157168	0.966000	0.33281	0.999000	0.59377	0.492000	0.33523	-0.072000	0.11486	-0.000000	0.14550	-0.252000	0.11476	GAC		0.711	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		5	10	0	0	0	1	0	5	10				
USH2A	7399	broad.mit.edu	37	1	216166392	216166392	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:216166392C>T	ENST00000307340.3	-	35	7161	c.6775G>A	c.(6775-6777)Gtc>Atc	p.V2259I	USH2A_ENST00000366943.2_Missense_Mutation_p.V2259I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2259	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V2259I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCCAGGAGACATTAAAGGAG	0.463										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000366943.2																			1	Substitution - Missense(1)	p.V2259I(1)	endometrium(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(6775-6777)Gtc>Atc		Usher syndrome 2A (autosomal recessive, mild)							243.0	246.0	245.0					1																	216166392		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216166392C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6775G>A	1.37:g.216166392C>T	ENSP00000305941:p.Val2259Ile	HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2234	USH2A_ENST00000307340.3_Missense_Mutation_p.V2259I	p.V2259I			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	35	7161	-			2259			Fibronectin type-III 9.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6775G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	4.357	0.065715	0.08388	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56275	0.47;0.47	6.17	0.0794	0.14416	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.152277	0.29684	N	0.011469	T	0.27027	0.0662	N	0.05441	-0.05	0.24107	N	0.995853	B	0.02656	0.0	B	0.04013	0.001	T	0.17379	-1.0371	10	0.18276	T	0.48	.	10.8535	0.46784	0.0:0.4416:0.0:0.5584	.	2259	O75445	USH2A_HUMAN	I	2259	ENSP00000305941:V2259I;ENSP00000355910:V2259I	ENSP00000305941:V2259I	V	-	1	0	USH2A	214233015	1.000000	0.71417	0.335000	0.25508	0.998000	0.95712	0.631000	0.24568	-0.210000	0.10140	0.655000	0.94253	GTC		0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		107	181	0	0	0	1	0	107	181				
PCLO	27445	broad.mit.edu	37	7	82545841	82545841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:82545841G>A	ENST00000333891.9	-	7	11798	c.11461C>T	c.(11461-11463)Cga>Tga	p.R3821*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.R3821*|PCLO_ENST00000437081.1_Nonsense_Mutation_p.R541*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGTAGGCTCGTTCTCTCTTT	0.448																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(11461-11463)Cga>Tga		piccolo presynaptic cytomatrix protein							211.0	194.0	199.0					7																	82545841		1958	4151	6109	SO:0001587	stop_gained	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545841G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11461C>T	7.37:g.82545841G>A	ENSP00000334319:p.Arg3821*					PCLO_ENST00000333891.8_Nonsense_Mutation_p.R3821*|PCLO_ENST00000437081.1_Nonsense_Mutation_p.R541*	p.R3821*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	11798	-			3752			Gln-rich.			Nonsense_Mutation	SNP	ENST00000333891.9	37	c.11461C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176291	0.78564	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	.	.	.	5.8	0.357	0.16079	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.208	0.86923	0.0:0.0:0.3015:0.6985	.	.	.	.	X	3821;3821;541	.	ENSP00000334319:R3821X	R	-	1	2	PCLO	82383777	1.000000	0.71417	0.984000	0.44739	0.890000	0.51754	1.902000	0.39848	0.038000	0.15604	-0.311000	0.09066	CGA		0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		63	44	0	0	0	1	0	63	44				
EHHADH	1962	broad.mit.edu	37	3	184910382	184910382	+	Missense_Mutation	SNP	G	G	A	rs148208284	byFrequency	TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr3:184910382G>A	ENST00000231887.3	-	7	1879	c.1804C>T	c.(1804-1806)Cgg>Tgg	p.R602W	EHHADH-AS1_ENST00000417720.1_RNA|EHHADH_ENST00000456310.1_Missense_Mutation_p.R506W	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	602					fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TTTCTATACCGTGATAGGAAT	0.428													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21609	0.0		0.0	False		,,,				2504	0.0					ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(1804-1806)Cgg>Tgg		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)	G	TRP/ARG,TRP/ARG	10,4396	16.8+/-37.8	0,10,2193	105.0	97.0	100.0		1516,1804	-1.2	0.1	3	dbSNP_134	100	0,8600		0,0,4300	yes	missense,missense	EHHADH	NM_001166415.1,NM_001966.3	101,101	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	possibly-damaging,possibly-damaging	506/628,602/724	184910382	10,12996	2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910382G>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1804C>T	3.37:g.184910382G>A	ENSP00000231887:p.Arg602Trp					EHHADH_ENST00000456310.1_Missense_Mutation_p.R506W	p.R602W	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	1879	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		602					A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.1804C>T	CCDS33901.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.47	1.358739	0.24598	0.00227	0.0	ENSG00000113790	ENST00000231887;ENST00000456310	T;T	0.76060	-0.58;-0.99	5.91	-1.18	0.09617	.	1.080000	0.07005	N	0.824029	T	0.60366	0.2263	N	0.08118	0	0.20307	N	0.999916	P	0.36086	0.536	B	0.36030	0.216	T	0.54159	-0.8335	10	0.66056	D	0.02	-0.5861	18.2045	0.89850	0.0:0.6567:0.2642:0.0792	.	602	Q08426	ECHP_HUMAN	W	602;506	ENSP00000231887:R602W;ENSP00000387746:R506W	ENSP00000231887:R602W	R	-	1	2	EHHADH	186393076	0.489000	0.26004	0.069000	0.20011	0.438000	0.31896	0.563000	0.23547	-0.173000	0.10761	0.655000	0.94253	CGG		0.428	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			48	79	0	0	0	1	0	48	79				
SH3RF1	57630	broad.mit.edu	37	4	170037774	170037774	+	Silent	SNP	C	C	T	rs528361329		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr4:170037774C>T	ENST00000284637.9	-	10	2126	c.1785G>A	c.(1783-1785)gcG>gcA	p.A595A	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	595					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CCTGGTTGTGCGCTGCAACTA	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22270	0.0		0.0	False		,,,				2504	0.0					ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1783-1785)gcG>gcA		SH3 domain containing ring finger 1							44.0	50.0	48.0					4																	170037774		2200	4296	6496	SO:0001819	synonymous_variant	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170037774C>T	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1785G>A	4.37:g.170037774C>T						SH3RF1_ENST00000508685.1_5'UTR	p.A595A	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	10	2126	-		Prostate(90;0.00267)|Renal(120;0.0183)	595					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Silent	SNP	ENST00000284637.9	37	c.1785G>A	CCDS34099.1																																																																																				0.537	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		3	54	0	0	0	1	0	3	54				
PCDHGA8	9708	broad.mit.edu	37	5	140772579	140772579	+	Missense_Mutation	SNP	G	G	T	rs368785983		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr5:140772579G>T	ENST00000398604.2	+	1	199	c.199G>T	c.(199-201)Gtc>Ttc	p.V67F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	67	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V67I(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCCGTATCGTCTCCAGAGG	0.622																																						ENST00000398604.2																			1	Substitution - Missense(1)	p.V67I(1)	endometrium(1)	endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(199-201)Gtc>Ttc									44.0	54.0	50.0					5																	140772579		2195	4299	6494	SO:0001583	missense	0							g.chr5:140772579G>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.199G>T	5.37:g.140772579G>T	ENSP00000381605:p.Val67Phe					PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.V67F	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	199	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.199G>T	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	16.42	3.118332	0.56505	.	.	ENSG00000253767	ENST00000398604	T	0.33216	1.42	5.26	4.35	0.52113	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.28635	U	0.014656	T	0.65176	0.2666	H	0.94183	3.505	0.29697	N	0.840459	D;D	0.71674	0.998;0.994	D;D	0.76575	0.988;0.953	T	0.69339	-0.5171	10	0.49607	T	0.09	.	14.8602	0.70376	0.0:0.0:0.8557:0.1443	.	67;67	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	F	67	ENSP00000381605:V67F	ENSP00000381605:V67F	V	+	1	0	PCDHGA8	140752763	0.967000	0.33354	1.000000	0.80357	0.976000	0.68499	1.505000	0.35736	2.471000	0.83476	0.655000	0.94253	GTC		0.622	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		40	54	1	0	1.52319e-26	1	1.74474e-26	40	54				
TRIM16L	147166	broad.mit.edu	37	17	18638255	18638255	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr17:18638255C>T	ENST00000449552.2	+	7	2013	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	TRIM16L_ENST00000571708.1_Missense_Mutation_p.R177C|TRIM16L_ENST00000395672.2_Missense_Mutation_p.R177C|TRIM16L_ENST00000572555.1_Missense_Mutation_p.R177C|TRIM16L_ENST00000395671.4_Missense_Mutation_p.R177C|TRIM16L_ENST00000414850.2_Silent_p.T89T|TRIM16L_ENST00000395902.3_Missense_Mutation_p.R231C			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	177	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						GGAGGAGAACCGCAAGGTCAC	0.607																																						ENST00000449552.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						c.(529-531)Cgc>Tgc		tripartite motif containing 16-like							47.0	42.0	44.0					17																	18638255		2203	4298	6501	SO:0001583	missense	147166					cytoplasm		g.chr17:18638255C>T	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.529C>T	17.37:g.18638255C>T	ENSP00000461386:p.Arg177Cys					TRIM16L_ENST00000395902.3_Missense_Mutation_p.R231C|TRIM16L_ENST00000414850.2_Silent_p.T89T|TRIM16L_ENST00000571708.1_Missense_Mutation_p.R177C|TRIM16L_ENST00000395671.4_Missense_Mutation_p.R177C|TRIM16L_ENST00000395672.2_Missense_Mutation_p.R177C|TRIM16L_ENST00000572555.1_Missense_Mutation_p.R177C	p.R177C			Q309B1	TR16L_HUMAN			7	2013	+			177			B30.2/SPRY.		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	ENST00000449552.2	37	c.529C>T	CCDS32588.1	.	.	.	.	.	.	.	.	.	.	c	4.575	0.106727	0.08780	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671	T;T;T	0.13901	2.55;2.55;2.55	3.54	2.55	0.30701	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.370611	0.22137	U	0.064105	T	0.39911	0.1096	M	0.89904	3.07	0.37442	D	0.914467	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.991;0.992;0.991	T	0.48790	-0.9004	10	0.87932	D	0	-16.7341	8.6334	0.33933	0.0:0.8807:0.0:0.1193	.	231;393;177	B4DE22;B3KMJ2;Q309B1	.;.;TR16L_HUMAN	C	231;177;177	ENSP00000379239:R231C;ENSP00000379031:R177C;ENSP00000379030:R177C	ENSP00000379030:R177C	R	+	1	0	TRIM16L	18578980	1.000000	0.71417	0.992000	0.48379	0.266000	0.26442	3.018000	0.49625	0.691000	0.31592	0.194000	0.17425	CGC		0.607	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		6	35	0	0	0	1	0	6	35				
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-	rs193031527		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:226034840_226034842delCTG	ENST00000366835.3	-	24	2593_2595	c.2323_2325delCAG	c.(2323-2325)cagdel	p.Q775del	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	775					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)	p.Q775delQ(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626																																						ENST00000366835.3																			1	Deletion - In frame(1)	p.Q775delQ(1)	breast(1)	breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(2323-2325)del		transmembrane protein 63A																																				SO:0001651	inframe_deletion	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226034840_226034842delCTG		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2323_2325delCAG	1.37:g.226034849_226034851delCTG	ENSP00000355800:p.Gln775del						p.Q775del	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			24	2593_2595	-	Breast(184;0.197)		775					Q53GI7|Q5TE96|Q8N2U2	In_Frame_Del	DEL	ENST00000366835.3	37	c.2323_2325delCAG	CCDS31042.1																																																																																				0.626	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		8	146						8	146	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89088051	89088051	+	RNA	DEL	T	T	-			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr2:89088051delT	ENST00000393525.3	+	0	1015									ankyrin repeat domain 36B pseudogene 2																		GCATTGTAGATTTAACTCTGG	0.308																																						ENST00000393525.3																			0																																																			0							g.chr2:89088051delT			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89088051delT														0	1015	+									RNA	DEL	ENST00000393525.3	37																																																																																						0.308	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			2	4						2	4	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			0							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA														0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		6	13						6	13	---	---	---	---
GPSM3	63940	broad.mit.edu	37	6	32160026	32160026	+	Splice_Site	DEL	C	C	-			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:32160026delC	ENST00000375040.3	-	2	436	c.44delG	c.(43-45)ggc>gc	p.G15fs	PBX2_ENST00000375050.4_5'Flank|GPSM3_ENST00000487761.1_Frame_Shift_Del_p.G12fs|GPSM3_ENST00000375043.3_Splice_Site_p.G15fs	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	15					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cytoplasm (GO:0005737)	GDP-dissociation inhibitor activity (GO:0005092)			large_intestine(1)	1						CTGAGGGGGGCCCTGATGCCA	0.617																																						ENST00000487761.1																			0				large_intestine(1)	1						c.(34-36)gcfs		G-protein signaling modulator 3							26.0	29.0	28.0					6																	32160026		2202	4300	6502	SO:0001630	splice_region_variant	63940				signal transduction	cytoplasm	GTPase activator activity|protein binding	g.chr6:32160026delC	AF155657	CCDS34419.1	6p21.3	2010-06-24	2010-06-24	2004-02-04	ENSG00000213654	ENSG00000213654			13945	protein-coding gene	gene with protein product	"""activator of G-protein signaling 4"""		"""chromosome 6 open reading frame 9"", ""G-protein signalling modulator 3 (AGS3-like, C. elegans)"""	C6orf9		2259622, 15096500	Standard	NM_022107		Approved	NG1, G18, G18.1a, G18.1b, G18.2, AGS4	uc003oaz.3	Q9Y4H4	OTTHUMG00000031244	ENST00000375040.3:c.43-1G>-	6.37:g.32160026delC						GPSM3_ENST00000375040.3_Splice_Site_p.G15_splice|GPSM3_ENST00000375043.3_Splice_Site_p.G15_splice	p.G12fs			Q9Y4H4	GPSM3_HUMAN			2	420	-			15					A2BFJ3	Frame_Shift_Del	DEL	ENST00000375040.3	37	c.35delG	CCDS34419.1																																																																																				0.617	GPSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076509.1	NM_022107	Frame_Shift_Del	10	15						10	15	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100385562	100385596	+	RNA	DEL	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	-	rs549519838|rs369526619|rs112538235|rs373952854|rs113714278|rs72364644|rs59541653	byFrequency	TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:100385562_100385596delGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	ENST00000348028.3	+	0	7195_7229				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACATTTGACGGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTATGTTCTGATCA	0.583														1187	0.237021	0.1029	0.2752	5008	,	,		26483	0.0327		0.5388	False		,,,				2504	0.2914					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)			,	590,3208		88,414,1397					,	-3.1	0.0		dbSNP_130	52	3589,4247		975,1639,1304	no	frameshift,frameshift	ZAN	NM_173059.1,NM_003386.1	,	1063,2053,2701	A1A1,A1R,RR		45.8014,15.5345,35.9206	,	,		4179,7455						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100385562_100385596delGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100385562_100385596delGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	7176_7210	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.583	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	28						7	28	---	---	---	---
DNAJC4	3338	broad.mit.edu	37	11	63997567	63997567	+	5'Flank	DEL	A	A	-	rs10708923|rs63552063	byFrequency	TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr11:63997567delA	ENST00000321685.3	+	0	0				DNAJC4_ENST00000355040.4_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000321460.5_5'Flank|RP11-783K16.14_ENST00000539963.1_RNA	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4						protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						GTGACTTGGGAAAAAAAAAAA	0.498													|||unknown(HR)	2125	0.424321	0.4319	0.3833	5008	,	,		15038	0.4623		0.3926	False		,,,				2504	0.4366					ENST00000534988.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr11:63997567delA	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792		11.37:g.63997567delA	Exception_encountered													0	99	-								O14716	RNA	DEL	ENST00000321685.3	37		CCDS41666.1																																																																																				0.498	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			6	9						6	9	---	---	---	---
RP4-568F9.6	0	broad.mit.edu	37	20	18327494	18327494	+	lincRNA	DEL	A	A	-			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr20:18327494delA	ENST00000457009.1	-	0	136																											TTTACAAGATAAAATTTCTGA	0.333																																						ENST00000457009.1																			0																																																			0							g.chr20:18327494delA																													20.37:g.18327494delA														0	136	-									RNA	DEL	ENST00000457009.1	37																																																																																						0.333	RP4-568F9.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000127626.1			6	5						6	5	---	---	---	---
