#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
DKC1	1736	broad.mit.edu	37	X	154003524	154003524	+	Silent	SNP	T	T	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:154003524T>A	ENST00000369550.5	+	13	1524	c.1314T>A	c.(1312-1314)gtT>gtA	p.V438V	DKC1_ENST00000475966.1_3'UTR|SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	438					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGCAGGTAGTTGCCGAAGCAG	0.468									Congenital Dyskeratosis																													uc004fmm.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(1312-1314)gtT>gtA		Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.							118.0	98.0	105.0					X																	154003524		2203	4300	6503	SO:0001819	synonymous_variant	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	RNA binding|protein binding|pseudouridine synthase activity|telomerase activity	g.chrX:154003524T>A	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1314T>A	X.37:g.154003524T>A						DKC1_uc010nvf.3_Silent_p.V433V	p.V438V	NM_001363	NP_001354	O60832	DKC1_HUMAN			12	1524	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		438					F5BSB3|O43845|Q96G67|Q9Y505	Silent	SNP	ENST00000369550.5	37	c.1314T>A	CCDS14761.1																																																																																				0.468	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		39	49	0	0	0	1	0	39	49				
ZNF410	57862	broad.mit.edu	37	14	74390223	74390223	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr14:74390223G>C	ENST00000555044.1	+	11	1590	c.1396G>C	c.(1396-1398)Gag>Cag	p.E466Q	RP5-1021I20.5_ENST00000555916.1_RNA|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000334521.4_Missense_Mutation_p.E413Q|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000442160.3_Missense_Mutation_p.E483Q|ZNF410_ENST00000324593.6_Missense_Mutation_p.E419Q|ZNF410_ENST00000540593.1_Missense_Mutation_p.E393Q	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		AAATCCACAAGAGGTAAAGTG	0.443																																						uc010arz.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1447-1449)Gag>Cag		Homo sapiens zinc finger protein 410 (ZNF410), transcript variant 1, mRNA.							190.0	170.0	177.0					14																	74390223		2203	4300	6503	SO:0001583	missense	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74390223G>C	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.1396G>C	14.37:g.74390223G>C	ENSP00000451763:p.Glu466Gln					ZNF410_uc001xoy.2_Non-coding_Transcript|ZNF410_uc010tuf.2_Non-coding_Transcript|ZNF410_uc010tui.2_Non-coding_Transcript|ZNF410_uc001xpa.2_Missense_Mutation_p.E270Q|ZNF410_uc001xoz.2_Missense_Mutation_p.E466Q|ZNF410_uc001xpb.2_Missense_Mutation_p.E419Q|ZNF410_uc010tug.2_Missense_Mutation_p.E197Q|ZNF410_uc010tuh.2_Missense_Mutation_p.E393Q|ZNF410_uc010tuj.2_Missense_Mutation_p.E270Q	p.E483Q	NM_001242924	NP_001229853	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	11	1897	+			466					B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	ENST00000555044.1	37	c.1447G>C	CCDS9821.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.966065|3.966065	0.74131|0.74131	.|.	.|.	ENSG00000119725|ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000556179|ENST00000557214	T;T;T;T;T|.	0.13196|.	3.1;3.19;2.61;3.17;3.12|.	5.82|5.82	4.93|4.93	0.64822|0.64822	.|.	0.000000|.	0.43747|.	D|.	0.000529|.	T|T	0.35998|0.35998	0.0951|0.0951	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;B;D;D;D;P|.	0.57899|.	0.981;0.01;0.981;0.968;0.981;0.947|.	D;B;D;D;D;D|.	0.70487|.	0.932;0.005;0.954;0.969;0.954;0.932|.	T|T	0.21245|0.21245	-1.0251|-1.0251	10|5	0.12766|.	T|.	0.61|.	.|.	11.9929|11.9929	0.53186|0.53186	0.081:0.0:0.919:0.0|0.081:0.0:0.919:0.0	.|.	466;393;483;419;455;466|.	B2RCP6;B4DR78;B4DDV5;Q86VK4-3;B4DPE9;Q86VK4|.	.;.;.;.;.;ZN410_HUMAN|.	Q|T	393;419;455;483;466;413;109|126	ENSP00000442228:E393Q;ENSP00000323293:E419Q;ENSP00000407130:E483Q;ENSP00000451763:E466Q;ENSP00000334170:E413Q|.	ENSP00000323293:E419Q|.	E|R	+|+	1|2	0|0	ZNF410|ZNF410	73459976|73459976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	5.239000|5.239000	0.65371|0.65371	1.473000|1.473000	0.48159|0.48159	0.591000|0.591000	0.81541|0.81541	GAG|AGA		0.443	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188		40	54	0	0	0	1	0	40	54				
BRF2	55290	broad.mit.edu	37	8	37704689	37704689	+	Silent	SNP	G	G	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr8:37704689G>A	ENST00000220659.6	-	3	339	c.219C>T	c.(217-219)ctC>ctT	p.L73L	BRF2_ENST00000520601.1_Silent_p.L73L|BRF2_ENST00000521170.1_3'UTR	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TCACTCGCCGGAGACCTAGGA	0.498																																						uc003xkk.3																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(217-219)ctC>ctT		Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA.							62.0	62.0	62.0					8																	37704689		2203	4300	6503	SO:0001819	synonymous_variant	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37704689G>A	AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"""BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"""			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.219C>T	8.37:g.37704689G>A							p.L73L	NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		2	349	-		Lung NSC(58;0.118)|all_lung(54;0.195)	73					Q53TB4|Q9BSJ3	Silent	SNP	ENST00000220659.6	37	c.219C>T	CCDS6098.1																																																																																				0.498	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376811.2	NM_018310		18	25	0	0	0	1	0	18	25				
MPPED1	758	broad.mit.edu	37	22	43898562	43898562	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr22:43898562G>A	ENST00000417669.2	+	6	1231	c.787G>A	c.(787-789)Ggc>Agc	p.G263S	MPPED1_ENST00000542779.1_Missense_Mutation_p.G263S|MPPED1_ENST00000443721.1_Missense_Mutation_p.G263S|MPPED1_ENST00000439548.1_Missense_Mutation_p.G105S|MPPED1_ENST00000414469.2_Missense_Mutation_p.G157S|MPPED1_ENST00000538182.1_Missense_Mutation_p.G296S			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	263							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCAGCGGGTGGGCTGTGTGGA	0.632																																						uc011apz.2																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(886-888)Ggc>Agc		Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.							78.0	91.0	86.0					22																	43898562		2187	4299	6486	SO:0001583	missense	758						hydrolase activity	g.chr22:43898562G>A	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.787G>A	22.37:g.43898562G>A	ENSP00000388137:p.Gly263Ser					MPPED1_uc011apv.2_Missense_Mutation_p.G263S|MPPED1_uc011apw.2_Missense_Mutation_p.G157S|MPPED1_uc011apx.2_Missense_Mutation_p.G105S|MPPED1_uc011apy.2_Missense_Mutation_p.G263S	p.G296S	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN			5	1227	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	263					A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	c.886G>A	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506919	0.64410	.	.	ENSG00000186732	ENST00000417669;ENST00000443721;ENST00000545165;ENST00000414469;ENST00000439548;ENST00000542779;ENST00000538182	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	4.27	3.25	0.37280	Metallophosphoesterase domain (1);	.	.	.	.	D	0.91050	0.7184	H	0.94462	3.54	0.80722	D	1	D;P	0.58620	0.983;0.799	D;P	0.64410	0.925;0.736	D	0.92502	0.6009	9	0.87932	D	0	.	12.3173	0.54964	0.0843:0.0:0.9157:0.0	.	296;263	B7Z2S9;O15442	.;MPPD1_HUMAN	S	263;263;241;157;105;263;296	ENSP00000388137:G263S;ENSP00000400686:G263S;ENSP00000388245:G157S;ENSP00000390379:G105S;ENSP00000444532:G263S;ENSP00000438335:G296S	ENSP00000388245:G157S	G	+	1	0	MPPED1	42229891	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	8.958000	0.93099	0.942000	0.37525	0.399000	0.26434	GGC		0.632	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		20	139	0	0	0	1	0	20	139				
MUC7	4589	broad.mit.edu	37	4	71346615	71346615	+	Silent	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr4:71346615C>T	ENST00000304887.5	+	3	344	c.154C>T	c.(154-156)Cta>Tta	p.L52L	MUC7_ENST00000456088.1_Silent_p.L52L|MUC7_ENST00000413702.1_Silent_p.L52L|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	52					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCCTGGACTGCTAGCTCACCA	0.458																																						uc011cat.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(154-156)Cta>Tta		Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.							174.0	172.0	173.0					4																	71346615		2203	4300	6503	SO:0001819	synonymous_variant	4589					extracellular region	protein binding	g.chr4:71346615C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.154C>T	4.37:g.71346615C>T						MUC7_uc011cau.2_Silent_p.L52L|MUC7_uc003hfj.3_Silent_p.L52L	p.L52L	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		3	442	+			52					Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	c.154C>T	CCDS3541.1																																																																																				0.458	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		4	98	0	0	0	1	0	4	98				
GPR151	134391	broad.mit.edu	37	5	145895223	145895223	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr5:145895223A>C	ENST00000311104.2	-	1	530	c.454T>G	c.(454-456)Tac>Gac	p.Y152D		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGATGGTGTAGTTGTGGATA	0.527																																					Pancreas(78;420 1386 18535 37114 49710)	uc003lod.1																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14						c.(454-456)Tac>Gac		Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.							152.0	129.0	137.0					5																	145895223		2203	4300	6503	SO:0001583	missense	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145895223A>C	AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.454T>G	5.37:g.145895223A>C	ENSP00000308733:p.Tyr152Asp						p.Y152D	NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		0	454	-			152					Q86SN8|Q8NGV2	Missense_Mutation	SNP	ENST00000311104.2	37	c.454T>G	CCDS34266.1	.	.	.	.	.	.	.	.	.	.	A	1.158	-0.644586	0.03531	.	.	ENSG00000173250	ENST00000311104	T	0.37058	1.22	5.67	-1.48	0.08745	GPCR, rhodopsin-like superfamily (1);	0.534643	0.21528	N	0.073082	T	0.15305	0.0369	N	0.08118	0	0.09310	N	0.999994	B	0.10296	0.003	B	0.04013	0.001	T	0.15321	-1.0441	10	0.37606	T	0.19	.	7.7218	0.28736	0.3544:0.1457:0.4999:0.0	.	152	Q8TDV0	GP151_HUMAN	D	152	ENSP00000308733:Y152D	ENSP00000308733:Y152D	Y	-	1	0	GPR151	145875416	0.056000	0.20664	0.157000	0.22605	0.144000	0.21451	0.252000	0.18278	-0.139000	0.11414	-0.290000	0.09829	TAC		0.527	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		52	82	0	0	0	1	0	52	82				
LRRC37A16P	651250	broad.mit.edu	37	17	66126377	66126377	+	RNA	SNP	T	T	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr17:66126377T>C	ENST00000590019.1	-	0	371									leucine rich repeat containing 37, member A16, pseudogene																		ACATGCACTGTTGCAATGCAG	0.363																																						uc002jgq.3																			0													Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																																						100499466							g.chr17:66126377T>C			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66126377T>C														5		+									RNA	SNP	ENST00000590019.1	37	c.5500T>C																																																																																					0.363	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			4	190	0	0	0	1	0	4	190				
EXOC3L2	90332	broad.mit.edu	37	19	45731482	45731482	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr19:45731482C>T	ENST00000252482.3	-	2	160	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.E45K			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	45					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CAGTGCTCTTCGTCCTCCTGC	0.642																																						uc002pay.1																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(133-135)Gaa>Aaa		Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.							86.0	89.0	88.0					19																	45731482		2203	4300	6503	SO:0001583	missense	90332							g.chr19:45731482C>T	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.133G>A	19.37:g.45731482C>T	ENSP00000252482:p.Glu45Lys						p.E45K	NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	2	174	-		all_neural(266;0.224)|Ovarian(192;0.231)	45					Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	c.133G>A	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	C	9.529	1.110284	0.20714	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.04970	3.52;3.52	4.89	4.89	0.63831	.	0.077143	0.49916	D	0.000130	T	0.10337	0.0253	L	0.54323	1.7	0.33677	D	0.611621	D	0.57257	0.979	P	0.51487	0.671	T	0.01819	-1.1267	10	0.02654	T	1	.	13.5202	0.61563	0.0:1.0:0.0:0.0	.	45	Q2M3D2	EX3L2_HUMAN	K	45	ENSP00000252482:E45K;ENSP00000400713:E45K	ENSP00000252482:E45K	E	-	1	0	EXOC3L2	50423322	0.945000	0.32115	0.939000	0.37840	0.155000	0.21991	2.646000	0.46630	2.267000	0.75376	0.305000	0.20034	GAA		0.642	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		5	229	0	0	0	1	0	5	229				
ANKMY1	51281	broad.mit.edu	37	2	241447070	241447070	+	Missense_Mutation	SNP	G	G	T	rs200515527		TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:241447070G>T	ENST00000272972.3	-	12	2380	c.2166C>A	c.(2164-2166)aaC>aaA	p.N722K	ANKMY1_ENST00000406958.1_Missense_Mutation_p.N483K|ANKMY1_ENST00000401804.1_Missense_Mutation_p.N811K|ANKMY1_ENST00000391987.1_Missense_Mutation_p.N722K|ANKMY1_ENST00000373320.4_Missense_Mutation_p.N492K|ANKMY1_ENST00000361678.4_Missense_Mutation_p.N498K|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000403283.1_Missense_Mutation_p.N624K	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	722							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCAGGGGCAGGTTGGGGTCAG	0.592																																						uc010fzd.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(2431-2433)aaC>aaA		Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.							82.0	76.0	78.0					2																	241447070		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241447070G>T	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.2166C>A	2.37:g.241447070G>T	ENSP00000272972:p.Asn722Lys					ANKMY1_uc002vzb.1_Missense_Mutation_p.N483K|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Missense_Mutation_p.N722K|ANKMY1_uc002vza.1_Missense_Mutation_p.N498K|ANKMY1_uc002vzd.1_Missense_Mutation_p.N545K	p.N811K	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	12	2558	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	722					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.2433C>A	CCDS2536.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.490|9.490	1.100556|1.100556	0.20552|0.20552	.|.	.|.	ENSG00000144504|ENSG00000144504	ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804|ENST00000391988	T;T;T;T;T;T;T|.	0.77098|.	-0.94;-0.84;-0.66;-0.84;-0.57;-1.07;-0.74|.	2.16|2.16	0.232|0.232	0.15381|0.15381	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.61800|0.61800	0.2376|0.2376	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.999;0.999;1.0;0.998;0.999|.	D;D;D;D;D|.	0.79784|.	0.96;0.935;0.993;0.938;0.96|.	T|T	0.57423|0.57423	-0.7814|-0.7814	10|5	0.72032|.	D|.	0.01|.	-35.7979|-35.7979	4.4328|4.4328	0.11536|0.11536	0.3609:0.0:0.6391:0.0|0.3609:0.0:0.6391:0.0	.|.	722;492;483;498;722|.	Q4ZFV3;Q9P2S6-4;B5MBY4;Q9P2S6-2;Q9P2S6|.	.;.;.;.;ANKY1_HUMAN|.	K|T	483;722;498;722;492;624;811|152	ENSP00000384555:N483K;ENSP00000272972:N722K;ENSP00000355097:N498K;ENSP00000375847:N722K;ENSP00000362417:N492K;ENSP00000383968:N624K;ENSP00000385887:N811K|.	ENSP00000272972:N722K|.	N|P	-|-	3|1	2|0	ANKMY1|ANKMY1	241095743|241095743	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.085000|0.085000	0.17905|0.17905	1.340000|1.340000	0.33896|0.33896	0.044000|0.044000	0.15775|0.15775	0.282000|0.282000	0.19409|0.19409	AAC|CCT		0.592	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		20	20	0	0	0	1	0	20	20				
ACSM5	54988	broad.mit.edu	37	16	20430680	20430680	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:20430680A>C	ENST00000331849.4	+	4	693	c.546A>C	c.(544-546)gaA>gaC	p.E182D	ACSM5_ENST00000575584.1_Missense_Mutation_p.E182D	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	182			E -> K (in dbSNP:rs7192210).		fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TCAGTGCCGAATGCCCCTCCC	0.587																																						uc002dhe.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(544-546)gaA>gaC		Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.							72.0	61.0	65.0					16																	20430680		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20430680A>C		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.546A>C	16.37:g.20430680A>C	ENSP00000327916:p.Glu182Asp					ACSM5_uc002dhd.1_Missense_Mutation_p.E182D	p.E182D	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			3	693	+			182		E -> K (in dbSNP:rs7192210).			Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.546A>C	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	A	0.052	-1.247856	0.01469	.	.	ENSG00000183549	ENST00000331849	T	0.39406	1.08	4.65	1.52	0.23074	AMP-dependent synthetase/ligase (1);	0.374166	0.25759	N	0.028498	T	0.23370	0.0565	N	0.21324	0.655	0.29621	N	0.846213	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	10	0.14656	T	0.56	-16.6401	8.3887	0.32516	0.3751:0.2788:0.3461:0.0	.	182	Q6NUN0	ACSM5_HUMAN	D	182	ENSP00000327916:E182D	ENSP00000327916:E182D	E	+	3	2	ACSM5	20338181	0.008000	0.16893	0.990000	0.47175	0.127000	0.20565	-1.137000	0.03219	0.256000	0.21614	-0.893000	0.02921	GAA		0.587	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		25	37	0	0	0	1	0	25	37				
SCN3A	6328	broad.mit.edu	37	2	165947659	165947659	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:165947659G>C	ENST00000360093.3	-	28	5495	c.5004C>G	c.(5002-5004)atC>atG	p.I1668M	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.I1668M|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Missense_Mutation_p.I1619M|SCN3A_ENST00000540861.1_Missense_Mutation_p.I151M	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1668					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGATGGCATAGATAAACATGA	0.458																																						uc002ucx.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(5002-5004)atC>atG		Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	Lamotrigine(DB00555)						154.0	149.0	150.0					2																	165947659		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165947659G>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5004C>G	2.37:g.165947659G>C	ENSP00000353206:p.Ile1668Met					SCN3A_uc010zcy.2_Missense_Mutation_p.I151M|SCN3A_uc002ucy.3_Missense_Mutation_p.I1619M|SCN3A_uc002ucz.3_Missense_Mutation_p.I1619M	p.I1668M	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			27	5496	-			1668					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.5004C>G		.	.	.	.	.	.	.	.	.	.	G	15.65	2.896875	0.52121	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.99032	-5.35;-5.35;-5.35;-5.35	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000006	D	0.99223	0.9730	M	0.83312	2.635	0.58432	D	0.999991	D;D;D	0.89917	0.997;1.0;0.998	D;D;D	0.87578	0.994;0.998;0.965	D	0.98965	1.0799	10	0.87932	D	0	.	13.4305	0.61053	0.0713:0.0:0.9287:0.0	.	1619;1619;1668	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	M	1668;1668;1619;151	ENSP00000353206:I1668M;ENSP00000283254:I1668M;ENSP00000386726:I1619M;ENSP00000439920:I151M	ENSP00000283254:I1668M	I	-	3	3	SCN3A	165655905	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.664000	0.74437	2.784000	0.95788	0.580000	0.79431	ATC		0.458	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		31	39	0	0	0	1	0	31	39				
PLXNB3	5365	broad.mit.edu	37	X	153042366	153042366	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:153042366C>T	ENST00000361971.5	+	29	4972	c.4858C>T	c.(4858-4860)Ctc>Ttc	p.L1620F	PLXNB3_ENST00000538966.1_Missense_Mutation_p.L1643F|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538776.1_Missense_Mutation_p.L1273F	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1620					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AACAGTGGGGCTCGTCCCTCA	0.682																																						uc010nuk.2																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(4927-4929)Ctc>Ttc		Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.							30.0	28.0	28.0					X																	153042366		2197	4295	6492	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153042366C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.4858C>T	X.37:g.153042366C>T	ENSP00000355378:p.Leu1620Phe					PLXNB3_uc004fii.2_Missense_Mutation_p.L1620F|PLXNB3_uc011mzd.1_Missense_Mutation_p.L1259F|SRPK3_uc004fik.3_5'UTR	p.L1643F	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN			29	5198	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1620					B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.4927C>T	CCDS14729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.770775|4.770775	0.90108|0.90108	.|.	.|.	ENSG00000198753|ENSG00000198753	ENST00000455214|ENST00000538966;ENST00000361971;ENST00000538776	.|T;T;T	.|0.18810	.|2.19;2.19;2.19	4.92|4.92	4.92|4.92	0.64577|0.64577	.|Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53498|0.53498	0.1800|0.1800	M|M	0.88377|0.88377	2.95|2.95	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.995;0.999;0.987	.|D;D;D	.|0.76071	.|0.983;0.987;0.983	T|T	0.64283|0.64283	-0.6444|-0.6444	5|10	.|0.87932	.|D	.|0	.|.	16.2486|16.2486	0.82467|0.82467	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1273;1643;1620	.|B7Z3H9;F5H773;Q9ULL4	.|.;.;PLXB3_HUMAN	V|F	123|1643;1620;1273	.|ENSP00000442736:L1643F;ENSP00000355378:L1620F;ENSP00000445569:L1273F	.|ENSP00000355378:L1620F	A|L	+|+	2|1	0|0	PLXNB3|PLXNB3	152695560|152695560	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.721000|0.721000	0.41392|0.41392	6.835000|6.835000	0.75344|0.75344	2.176000|2.176000	0.68965|0.68965	0.529000|0.529000	0.55759|0.55759	GCT|CTC		0.682	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			11	10	0	0	0	1	0	11	10				
SH2D3C	10044	broad.mit.edu	37	9	130506914	130506914	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr9:130506914T>A	ENST00000314830.8	-	7	1842	c.1729A>T	c.(1729-1731)Aag>Tag	p.K577*	SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.K417*|SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.K420*|SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.K223*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.K419*|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.K509*	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	577					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCTTGACCTTGCGCAGAAGG	0.622																																						uc004bsc.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1729-1731)Aag>Tag		Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.							82.0	82.0	82.0					9																	130506914		2203	4300	6503	SO:0001587	stop_gained	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity	g.chr9:130506914T>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1729A>T	9.37:g.130506914T>A	ENSP00000317817:p.Lys577*					SH2D3C_uc010mxo.3_Nonsense_Mutation_p.K417*|SH2D3C_uc004bry.3_Nonsense_Mutation_p.K419*|SH2D3C_uc004brz.4_Nonsense_Mutation_p.K223*|SH2D3C_uc011mak.2_Nonsense_Mutation_p.K223*|SH2D3C_uc004bsb.3_Nonsense_Mutation_p.K509*|SH2D3C_uc004bsa.3_Nonsense_Mutation_p.K420*	p.K577*	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			6	1871	-			577					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Nonsense_Mutation	SNP	ENST00000314830.8	37	c.1729A>T	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	T	38	6.903284	0.97924	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	.	.	.	5.42	4.21	0.49690	.	0.132658	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5666	11.3751	0.49724	0.0:0.0:0.1514:0.8486	.	.	.	.	X	420;419;509;417;223;577	.	ENSP00000317817:K577X	K	-	1	0	SH2D3C	129546735	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.835000	0.55805	2.053000	0.61076	0.459000	0.35465	AAG		0.622	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		18	115	0	0	0	1	0	18	115				
LMOD3	56203	broad.mit.edu	37	3	69171306	69171306	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr3:69171306C>T	ENST00000420581.2	-	1	411	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	LMOD3_ENST00000489031.1_Missense_Mutation_p.E78K|LMOD3_ENST00000475434.1_Missense_Mutation_p.E78K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	78						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GATGCCTTTTCCCAATACATA	0.463																																						uc003dns.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(232-234)Gaa>Aaa		Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.							76.0	72.0	73.0					3																	69171306		1872	4108	5980	SO:0001583	missense	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69171306C>T	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.232G>A	3.37:g.69171306C>T	ENSP00000414670:p.Glu78Lys					LMOD3_uc003dnt.2_Missense_Mutation_p.E78K	p.E78K	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	0	441	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	78					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	c.232G>A	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737060	0.69304	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.26223	1.75;1.75;1.75	5.69	4.82	0.62117	.	0.104769	0.64402	D	0.000005	T	0.28863	0.0716	L	0.49126	1.545	0.52501	D	0.999956	P	0.40000	0.698	B	0.41946	0.371	T	0.02539	-1.1144	10	0.35671	T	0.21	-17.6549	14.8288	0.70132	0.0:0.3102:0.6898:0.0	.	78	Q0VAK6	LMOD3_HUMAN	K	78	ENSP00000414670:E78K;ENSP00000417210:E78K;ENSP00000418645:E78K	ENSP00000414670:E78K	E	-	1	0	LMOD3	69253996	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.973000	0.56845	1.419000	0.47118	0.591000	0.81541	GAA		0.463	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		3	2	0	0	0	1	0	3	2				
FBN1	2200	broad.mit.edu	37	15	48788300	48788300	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr15:48788300C>T	ENST00000316623.5	-	20	2871	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	806	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGTTTACCTTCACATGTTTTT	0.358																																						uc001zwx.2																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(2416-2418)Gaa>Aaa		Homo sapiens fibrillin 1 (FBN1), mRNA.							128.0	132.0	131.0					15																	48788300		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48788300C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2416G>A	15.37:g.48788300C>T	ENSP00000325527:p.Glu806Lys						p.E806K	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	19	2811	-		all_lung(180;0.00279)	806			EGF-like 12; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.2416G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011188	0.93346	.	.	ENSG00000166147	ENST00000316623	D	0.87491	-2.26	6.06	6.06	0.98353	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.094270	0.64402	D	0.000001	D	0.84570	0.5501	L	0.45422	1.42	0.80722	D	1	P	0.40970	0.734	B	0.40165	0.321	T	0.82018	-0.0665	10	0.27082	T	0.32	.	19.2036	0.93720	0.0:1.0:0.0:0.0	.	806	P35555	FBN1_HUMAN	K	806	ENSP00000325527:E806K	ENSP00000325527:E806K	E	-	1	0	FBN1	46575592	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.079000	0.71291	2.880000	0.98712	0.650000	0.86243	GAA		0.358	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			12	13	0	0	0	1	0	12	13				
SEPT6	23157	broad.mit.edu	37	X	118797459	118797459	+	Silent	SNP	G	G	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:118797459G>T	ENST00000343984.5	-	3	591	c.327C>A	c.(325-327)atC>atA	p.I109I	SEPT6_ENST00000489216.1_Silent_p.I109I|SEPT6_ENST00000354416.3_Silent_p.I109I|SEPT6_ENST00000394616.4_Silent_p.I51I|SEPT6_ENST00000394610.1_Silent_p.I109I|SEPT6_ENST00000360156.7_Silent_p.I109I|SEPT6_ENST00000354228.4_Silent_p.I109I|SEPT6_ENST00000394617.2_Silent_p.I139I	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	109	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CCTCTTTGTTGATCTGGTCCC	0.557			T	MLL	AML																																	uc011mtw.1				Dom	yes		X	Xq24	23157	T	septin 6			L	MLL		AML		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(415-417)atC>atA		Homo sapiens septin 6 (SEPT6), transcript variant III, mRNA.							175.0	172.0	173.0					X																	118797459		2203	4300	6503	SO:0001819	synonymous_variant	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118797459G>T	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.327C>A	X.37:g.118797459G>T						SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Silent_p.I109I|SEPT6_uc004ert.3_Silent_p.I109I|SEPT6_uc004eru.3_Silent_p.I109I|SEPT6_uc004erv.3_Silent_p.I109I|SEPT6_uc004erw.3_Silent_p.I51I|SEPT6_uc011mtv.1_Silent_p.I51I	p.I139I	NM_145800	NP_665799	Q14141	SEPT6_HUMAN			3	490	-			109					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Silent	SNP	ENST00000343984.5	37	c.417C>A	CCDS14584.1																																																																																				0.557	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		19	282	0	0	0	1	0	19	282				
ABCG5	64240	broad.mit.edu	37	2	44055183	44055183	+	Silent	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:44055183C>T	ENST00000260645.1	-	5	712	c.573G>A	c.(571-573)ggG>ggA	p.G191G	ABCG5_ENST00000405322.1_Silent_p.G110G|ABCG5_ENST00000543989.1_5'UTR	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	191	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGGAAATGCCCCCCAAGCTGT	0.592																																						uc002rtn.3																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(571-573)ggG>ggA		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.							58.0	53.0	55.0					2																	44055183		2203	4300	6503	SO:0001819	synonymous_variant	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44055183C>T	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.573G>A	2.37:g.44055183C>T						ABCG5_uc002rtm.3_5'UTR|ABCG5_uc002rto.3_Silent_p.G110G|ABCG5_uc002rtp.3_5'UTR	p.G191G	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN			4	713	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	191			ABC transporter.		Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	ENST00000260645.1	37	c.573G>A	CCDS1814.1																																																																																				0.592	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		10	54	0	0	0	1	0	10	54				
HYDIN	54768	broad.mit.edu	37	16	71218818	71218818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:71218818G>A	ENST00000393567.2	-	3	361	c.211C>T	c.(211-213)Cga>Tga	p.R71*	HYDIN_ENST00000538248.1_Nonsense_Mutation_p.R98*|HYDIN_ENST00000288168.10_Nonsense_Mutation_p.R88*|HYDIN_ENST00000321489.5_Nonsense_Mutation_p.R71*|HYDIN_ENST00000448089.2_Nonsense_Mutation_p.R71*|HYDIN_ENST00000448691.1_Nonsense_Mutation_p.R71*|HYDIN_ENST00000393550.2_Nonsense_Mutation_p.R71*|HYDIN_ENST00000541601.1_Nonsense_Mutation_p.R88*	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	71					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATCTGTGGTCGGCACATCAAA	0.463																																						uc002ezr.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(211-213)Cga>Tga		Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.							168.0	148.0	155.0					16																	71218818		2198	4299	6497	SO:0001587	stop_gained	54768							g.chr16:71218818G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.211C>T	16.37:g.71218818G>A	ENSP00000377197:p.Arg71*					HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Nonsense_Mutation_p.R71*|HYDIN_uc010vmc.2_Nonsense_Mutation_p.R88*|HYDIN_uc010vmd.2_Nonsense_Mutation_p.R98*|HYDIN_uc002ezw.4_Nonsense_Mutation_p.R88*	p.R71*	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			2	362	-		Ovarian(137;0.0654)	71					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	c.211C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	36	5.622778	0.96660	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	.	.	.	5.86	3.85	0.44370	.	0.000000	0.27554	U	0.018858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	15.0754	0.72074	0.0:0.0:0.7403:0.2597	.	.	.	.	X	71;71;71;71;71;98;88;88;71	.	ENSP00000288168:R88X	R	-	1	2	HYDIN	69776319	0.981000	0.34729	0.995000	0.50966	0.852000	0.48524	3.980000	0.56895	0.776000	0.33473	0.655000	0.94253	CGA		0.463	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			3	73	0	0	0	1	0	3	73				
STRA6	64220	broad.mit.edu	37	15	74476216	74476216	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr15:74476216C>G	ENST00000323940.5	-	14	1526	c.1281G>C	c.(1279-1281)caG>caC	p.Q427H	STRA6_ENST00000416286.3_Missense_Mutation_p.Q419H|STRA6_ENST00000449139.2_Missense_Mutation_p.Q427H|STRA6_ENST00000423167.2_Missense_Mutation_p.Q418H|STRA6_ENST00000563965.1_Missense_Mutation_p.Q466H|STRA6_ENST00000395105.4_Missense_Mutation_p.Q427H|STRA6_ENST00000535552.1_Missense_Mutation_p.Q464H|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000574278.1_Missense_Mutation_p.Q442H	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	427					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TAAAGGCTGTCTGGTAGGCAC	0.612																																						uc002axj.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						c.(1396-1398)caG>caC		Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.							124.0	108.0	114.0					15																	74476216		2198	4297	6495	SO:0001583	missense	64220				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity	g.chr15:74476216C>G	AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.1281G>C	15.37:g.74476216C>G	ENSP00000326085:p.Gln427His					STRA6_uc002axi.3_Missense_Mutation_p.Q236H|STRA6_uc010ulh.2_Missense_Mutation_p.Q465H|STRA6_uc002axk.3_Missense_Mutation_p.Q427H|STRA6_uc002axl.3_Missense_Mutation_p.Q359H|STRA6_uc010bji.3_Missense_Mutation_p.Q427H|STRA6_uc021sqg.1_Missense_Mutation_p.Q442H|STRA6_uc002axm.3_Missense_Mutation_p.Q427H|STRA6_uc002axn.3_Missense_Mutation_p.Q418H|STRA6_uc010uli.2_Missense_Mutation_p.Q464H|STRA6_uc010bjj.1_Non-coding_Transcript	p.Q466H	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN			13	1758	-			427					A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	c.1398G>C	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201635	0.38905	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000545137;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	4.55	1.47	0.22746	.	0.310849	0.34959	N	0.003544	D	0.83968	0.5369	L	0.46157	1.445	0.80722	D	1	B;B;B;B;B;B	0.33583	0.418;0.418;0.418;0.418;0.418;0.082	B;B;B;B;B;B	0.35240	0.198;0.198;0.198;0.184;0.198;0.058	T	0.80286	-0.1446	10	0.59425	D	0.04	-11.4675	9.9809	0.41813	0.0:0.6637:0.2601:0.0762	.	464;465;418;427;466;236	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4;B3KRT6	.;.;.;STRA6_HUMAN;.;.	H	427;427;359;236;466;418;464;317	ENSP00000378537:Q427H;ENSP00000326085:Q427H;ENSP00000413012:Q418H;ENSP00000440238:Q464H	ENSP00000326085:Q427H	Q	-	3	2	STRA6	72263269	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	0.780000	0.26760	0.434000	0.26340	0.563000	0.77884	CAG		0.612	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			84	107	0	0	0	1	0	84	107				
PSMC3IP	29893	broad.mit.edu	37	17	40725136	40725136	+	Missense_Mutation	SNP	T	T	G	rs374511642		TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr17:40725136T>G	ENST00000393795.3	-	7	694	c.586A>C	c.(586-588)Aag>Cag	p.K196Q	PSMC3IP_ENST00000253789.5_Missense_Mutation_p.K184Q|MLX_ENST00000246912.4_3'UTR|MLX_ENST00000435881.2_3'UTR|PSMC3IP_ENST00000587209.1_Missense_Mutation_p.K133Q|MLX_ENST00000346833.4_3'UTR|PSMC3IP_ENST00000590760.1_Missense_Mutation_p.K71Q	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	196					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)|regulation of RNA biosynthetic process (GO:2001141)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AAGAACTGCTTCTTGCTCTTG	0.488																																						uc002iai.2																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7						c.(586-588)Aag>Cag		Homo sapiens PSMC3 interacting protein (PSMC3IP), transcript variant 2, mRNA.		T	GLN/LYS,GLN/LYS,,,	0,4406		0,0,2203	147.0	145.0	146.0		550,586,,,	5.9	1.0	17		146	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-3,utr-3,utr-3	MLX,PSMC3IP	NM_013290.5,NM_016556.2,NM_170607.2,NM_198204.1,NM_198205.1	53,53,,,	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,,,	184/206,196/218,,,	40725136	1,13005	2203	4300	6503	SO:0001583	missense	29893				DNA recombination|meiosis	nucleus	DNA binding	g.chr17:40725136T>G	AB030304, NM_013290, BC008792	CCDS11431.1, CCDS45688.1, CCDS59289.1	17q21.2	2012-04-10				ENSG00000131470		"""Proteasome (prosome, macropain) subunits"""	17928	protein-coding gene	gene with protein product	"""TBP-1 interacting protein"""	608665				7490091, 10806355, 11739747	Standard	NM_016556		Approved	TBPIP, GT198, HUMGT198A	uc002iai.3	Q9P2W1		ENST00000393795.3:c.586A>C	17.37:g.40725136T>G	ENSP00000377384:p.Lys196Gln					MLX_uc002iaf.3_3'UTR|MLX_uc002iag.3_3'UTR|MLX_uc002iah.3_3'UTR|PSMC3IP_uc002iaj.3_Missense_Mutation_p.K133Q|PSMC3IP_uc010wgp.1_Non-coding_Transcript|PSMC3IP_uc002iak.2_Missense_Mutation_p.K184Q|PSMC3IP_uc010wgn.1_Missense_Mutation_p.K117Q|PSMC3IP_uc010wgo.1_Non-coding_Transcript	p.K196Q	NM_016556	NP_057640	Q9P2W1	HOP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	629	-		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)	196					C5ILB7|Q14458|Q8WXG2|Q96HA2	Missense_Mutation	SNP	ENST00000393795.3	37	c.586A>C	CCDS45688.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.045276	0.93685	0.0	1.16E-4	ENSG00000131470	ENST00000393795;ENST00000253789	T;T	0.53857	0.69;0.6	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.73528	0.3598	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.981	T	0.73467	-0.3973	10	0.35671	T	0.21	-34.7113	16.3317	0.83023	0.0:0.0:0.0:1.0	.	184;196	Q9P2W1-2;Q9P2W1	.;HOP2_HUMAN	Q	196;184	ENSP00000377384:K196Q;ENSP00000253789:K184Q	ENSP00000253789:K184Q	K	-	1	0	PSMC3IP	37978662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.797000	0.85911	2.264000	0.75181	0.533000	0.62120	AAG		0.488	PSMC3IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450427.1	NM_013290		17	13	0	0	0	1	0	17	13				
CHD4	1108	broad.mit.edu	37	12	6691343	6691343	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr12:6691343A>C	ENST00000357008.2	-	30	4638	c.4475T>G	c.(4474-4476)gTc>gGc	p.V1492G	SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.V1485G|CHD4_ENST00000544484.1_Missense_Mutation_p.V1517G|CHD4_ENST00000309577.6_Missense_Mutation_p.V1520G|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000540960.1_5'UTR	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1492					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCTAGTAAGGACATGCTGGCG	0.542																																					Colon(32;586 792 4568 16848 45314)	uc001qpp.3																			0				central_nervous_system(2)	2						c.(4549-4551)gTc>gGc		Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.							88.0	77.0	81.0					12																	6691343		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6691343A>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4475T>G	12.37:g.6691343A>C	ENSP00000349508:p.Val1492Gly					CHD4_uc001qpn.3_Missense_Mutation_p.V1485G|CHD4_uc001qpo.3_Missense_Mutation_p.V1492G|AK096395_uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	p.V1517G	NM_001273	NP_001264	Q14839	CHD4_HUMAN			28	4714	-			1492					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4550T>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	A	18.98	3.737165	0.69304	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.95069	-3.6;-3.45;-3.6;-3.45	5.76	5.76	0.90799	Domain of unknown function DUF1086 (1);	0.000000	0.85682	D	0.000000	D	0.97526	0.9190	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.996	D	0.98321	1.0528	10	0.87932	D	0	-10.0069	16.087	0.81065	1.0:0.0:0.0:0.0	.	1520;1492;1485	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	G	1517;1485;1520;1492;1466	ENSP00000440392:V1517G;ENSP00000440542:V1485G;ENSP00000312419:V1520G;ENSP00000349508:V1492G	ENSP00000312419:V1520G	V	-	2	0	CHD4	6561604	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.930000	0.92872	2.202000	0.70862	0.533000	0.62120	GTC		0.542	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		4	53	0	0	0	1	0	4	53				
GBP5	115362	broad.mit.edu	37	1	89732216	89732216	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr1:89732216G>C	ENST00000370459.3	-	6	808	c.681C>G	c.(679-681)ttC>ttG	p.F227L	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Missense_Mutation_p.F227L			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	227	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TTTTTGGAAAGAACTTCTGTA	0.368																																						uc001dnc.3																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(679-681)ttC>ttG		Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.							124.0	127.0	126.0					1																	89732216		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89732216G>C	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.681C>G	1.37:g.89732216G>C	ENSP00000359488:p.Phe227Leu					GBP5_uc001dnd.3_Missense_Mutation_p.F227L|GBP5_uc001dne.1_Missense_Mutation_p.F227L	p.F227L	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	6	1218	-			227					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.681C>G	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642706	0.47153	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.76186	-1.0;-1.0;-1.0	5.01	2.87	0.33458	Guanylate-binding protein, N-terminal (1);	0.181111	0.48767	D	0.000177	T	0.63307	0.2500	M	0.66506	2.035	0.32851	D	0.506651	P	0.41102	0.738	P	0.45913	0.497	T	0.64084	-0.6490	10	0.66056	D	0.02	-11.7355	8.0779	0.30726	0.2301:0.0:0.7699:0.0	.	227	Q96PP8	GBP5_HUMAN	L	227	ENSP00000340396:F227L;ENSP00000359488:F227L;ENSP00000403010:F227L	ENSP00000340396:F227L	F	-	3	2	GBP5	89504804	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	3.729000	0.54999	0.645000	0.30675	0.549000	0.68633	TTC		0.368	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		15	16	0	0	0	1	0	15	16				
CETP	1071	broad.mit.edu	37	16	57015114	57015114	+	Silent	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:57015114C>T	ENST00000566128.1	+	12	1263	c.996C>T	c.(994-996)ctC>ctT	p.L332L	CETP_ENST00000200676.3_Silent_p.L397L|CETP_ENST00000379780.2_Silent_p.L337L					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						AGAAAAAGCTCTTCTTAAGCC	0.547																																						uc002eki.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(1189-1191)ctC>ctT		Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.							79.0	85.0	83.0					16																	57015114		2198	4300	6498	SO:0001819	synonymous_variant	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57015114C>T	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.996C>T	16.37:g.57015114C>T						CETP_uc002ekj.2_Silent_p.L337L	p.L397L	NM_000078	NP_000069	P11597	CETP_HUMAN			11	1248	+			397						Silent	SNP	ENST00000566128.1	37	c.1191C>T																																																																																					0.547	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		13	28	0	0	0	1	0	13	28				
GDI1	2664	broad.mit.edu	37	X	153668409	153668409	+	Silent	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:153668409C>T	ENST00000447750.2	+	5	845	c.510C>T	c.(508-510)gaC>gaT	p.D170D		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	170					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCATGCGTGACGTCTACCGGA	0.572																																						uc004fli.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(508-510)gaC>gaT		Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.							313.0	285.0	294.0					X																	153668409		2203	4300	6503	SO:0001819	synonymous_variant	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153668409C>T	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.510C>T	X.37:g.153668409C>T						GDI1_uc011mzo.1_Silent_p.D170D|GDI1_uc004flj.3_5'Flank	p.D170D	NM_001493	NP_001484	P31150	GDIA_HUMAN			4	852	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		170					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Silent	SNP	ENST00000447750.2	37	c.510C>T	CCDS35452.1																																																																																				0.572	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		8	468	0	0	0	1	0	8	468				
SLC9A2	6549	broad.mit.edu	37	2	103324773	103324773	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:103324773A>G	ENST00000233969.2	+	12	2406	c.2264A>G	c.(2263-2265)aAg>aGg	p.K755R		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	755					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGCAGAGAAAAGGGCACCCAG	0.532																																						uc002tca.3																			0		p.E754K(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2263-2265)aAg>aGg		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.							138.0	148.0	144.0					2																	103324773		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103324773A>G		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2264A>G	2.37:g.103324773A>G	ENSP00000233969:p.Lys755Arg						p.K755R	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			11	2406	+			755					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.2264A>G	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	A	2.696	-0.272046	0.05716	.	.	ENSG00000115616	ENST00000233969	T	0.54866	0.55	5.24	2.23	0.28157	.	1.812460	0.02136	N	0.056732	T	0.33876	0.0878	N	0.14661	0.345	0.19575	N	0.999964	B	0.14012	0.009	B	0.15484	0.013	T	0.18999	-1.0319	10	0.16420	T	0.52	.	3.747	0.08552	0.207:0.0:0.5877:0.2053	.	755	Q9UBY0	SL9A2_HUMAN	R	755	ENSP00000233969:K755R	ENSP00000233969:K755R	K	+	2	0	SLC9A2	102691205	0.487000	0.25988	0.957000	0.39632	0.049000	0.14656	0.847000	0.27696	0.769000	0.33313	-0.248000	0.11899	AAG		0.532	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			3	107	0	0	0	1	0	3	107				
CHD3	1107	broad.mit.edu	37	17	7800502	7800502	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr17:7800502G>C	ENST00000330494.7	+	11	1959	c.1809G>C	c.(1807-1809)aaG>aaC	p.K603N	CHD3_ENST00000358181.4_Missense_Mutation_p.K603N|CHD3_ENST00000380358.4_Missense_Mutation_p.K662N	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	603					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATGATGGGAAGAGCGACAAGC	0.512																																						uc002gjd.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(1984-1986)aaG>aaC		Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.							135.0	109.0	118.0					17																	7800502		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7800502G>C	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1809G>C	17.37:g.7800502G>C	ENSP00000332628:p.Lys603Asn					CHD3_uc002gje.2_Missense_Mutation_p.K603N|CHD3_uc002gjf.2_Missense_Mutation_p.K603N|CHD3_uc002gjg.1_Missense_Mutation_p.K431N	p.K662N	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN			10	1988	+		Prostate(122;0.202)	603			Chromo 2.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.1986G>C	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.11|15.11	2.736683|2.736683	0.49045|0.49045	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000452447|ENST00000380358;ENST00000358181;ENST00000330494	.|D;D;D	.|0.90676	.|-2.71;-2.64;-2.64	5.67|5.67	4.69|4.69	0.59074|0.59074	.|.	.|0.000000	.|0.47093	.|D	.|0.000243	D|D	0.91925|0.91925	0.7443|0.7443	L|L	0.52759|0.52759	1.655|1.655	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.59767	.|0.98;0.965;0.986	.|P;P;P	.|0.57152	.|0.814;0.656;0.738	D|D	0.91745|0.91745	0.5407|0.5407	5|10	.|0.51188	.|T	.|0.08	-31.3428|-31.3428	14.9004|14.9004	0.70675|0.70675	0.0699:0.0:0.9301:0.0|0.0699:0.0:0.9301:0.0	.|.	.|603;603;662	.|Q12873-2;Q12873;E9PG89	.|.;CHD3_HUMAN;.	Q|N	474|662;603;603	.|ENSP00000369716:K662N;ENSP00000350907:K603N;ENSP00000332628:K603N	.|ENSP00000332628:K603N	E|K	+|+	1|3	0|2	CHD3|CHD3	7741227|7741227	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	2.877000|2.877000	0.48506|0.48506	2.681000|2.681000	0.91329|0.91329	0.561000|0.561000	0.74099|0.74099	GAG|AAG		0.512	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		36	53	0	0	0	1	0	36	53				
GJA8	2703	broad.mit.edu	37	1	147381186	147381186	+	Frame_Shift_Del	DEL	G	G	-	rs145146702	byFrequency	TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr1:147381186delG	ENST00000369235.1	+	1	1104	c.1104delG	c.(1102-1104)gagfs	p.E368fs	GJA8_ENST00000240986.4_Frame_Shift_Del_p.E368fs			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	368					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.E368D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGTGCCAGAGGGGGAGAAAG	0.612																																					Melanoma(76;1255 1795 8195 52096)	uc001epu.2																			1	Substitution - Missense(1)	p.E368D(2)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(1102-1104)gagfs		Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.							45.0	47.0	47.0					1																	147381186		2200	4298	6498	SO:0001589	frameshift_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147381186delG	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1104delG	1.37:g.147381186delG	ENSP00000358238:p.Glu368fs					GJA8_uc021ovm.1_Frame_Shift_Del_p.E368fs	p.E368fs	NM_005267	NP_005258	P48165	CXA8_HUMAN			1	1157	+	all_hematologic(923;0.0276)		368					A7L5M5|Q5VVN9|Q9NP25	Frame_Shift_Del	DEL	ENST00000369235.1	37	c.1104delG	CCDS30834.1																																																																																				0.612	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		2	4						2	4	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90087090	90087090	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr5:90087090delA	ENST00000405460.2	+	70	14540	c.14444delA	c.(14443-14445)gaafs	p.E4815fs	GPR98_ENST00000425867.2_Frame_Shift_Del_p.E476fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4815					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTGTTACCGAAAATGCAGAG	0.448																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(14443-14445)gaafs		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							28.0	28.0	28.0					5																	90087090		2070	4202	6272	SO:0001589	frameshift_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	g.chr5:90087090delA	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14444delA	5.37:g.90087090delA	ENSP00000384582:p.Glu4815fs					GPR98_uc003kjt.3_Frame_Shift_Del_p.E2521fs|GPR98_uc003kjw.3_Frame_Shift_Del_p.E476fs	p.E4815fs	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	69	14540	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4815					O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Del	DEL	ENST00000405460.2	37	c.14444delA	CCDS47246.1																																																																																				0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		2	4						2	4	---	---	---	---
CALD1	800	broad.mit.edu	37	7	134618624	134618625	+	Frame_Shift_Ins	INS	-	-	C	rs193221622		TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr7:134618624_134618625insC	ENST00000361675.2	+	5	1333_1334	c.1104_1105insC	c.(1105-1107)gagfs	p.E369fs	CALD1_ENST00000422748.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000424922.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	369	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						gggcagcagaggagaggCAAAG	0.505																																						uc003vrz.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(1102-1107)gaggagfs		Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134618624_134618625insC	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	Exception_encountered	7.37:g.134618624_134618625insC	ENSP00000354826:p.Glu369fs					CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_Frame_Shift_Ins_p.E232fs	p.E368fs	NM_033138	NP_149129	Q05682	CALD1_HUMAN			4	1570_1571	+			368			3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Frame_Shift_Ins	INS	ENST00000361675.2	37	c.1104_1105insC	CCDS5835.1																																																																																				0.505	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		2	4						2	4	---	---	---	---
TG	7038	broad.mit.edu	37	8	133978928	133978929	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr8:133978928_133978929insA	ENST00000220616.4	+	30	5712_5713	c.5672_5673insA	c.(5671-5676)ctatggfs	p.W1892fs	TG_ENST00000377869.1_Frame_Shift_Ins_p.W1835fs|TG_ENST00000519543.1_Frame_Shift_Ins_p.W46fs|TG_ENST00000542445.1_Frame_Shift_Ins_p.W262fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1892					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGGCAAACCTATGGTGCCTTT	0.48																																						uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(5671-5673)ctafs		Homo sapiens thyroglobulin (TG), mRNA.																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133978928_133978929insA	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5673dupA	8.37:g.133978929_133978929dupA	ENSP00000220616:p.Trp1892fs					TG_uc010mdw.3_Frame_Shift_Ins_p.L650fs|TG_uc011ljb.2_Frame_Shift_Ins_p.L260fs|TG_uc011ljc.2_Frame_Shift_Ins_p.L45fs|TG_uc010mdx.1_Intron	p.L1891fs	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	29	5713_5714	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1891					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Ins	INS	ENST00000220616.4	37	c.5672_5673insA	CCDS34944.1																																																																																				0.480	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		26	34						26	34	---	---	---	---
