#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CROCC	9696	broad.mit.edu	37	1	17266574	17266574	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr1:17266574C>A	ENST00000375541.5	+	13	1863	c.1794C>A	c.(1792-1794)aaC>aaA	p.N598K	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGAGCGCCAACGAGCTCCTGA	0.647																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(1792-1794)aaC>aaA		ciliary rootlet coiled-coil, rootletin							10.0	11.0	11.0					1																	17266574		2169	4221	6390	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17266574C>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1794C>A	1.37:g.17266574C>A	ENSP00000364691:p.Asn598Lys					CROCC_ENST00000467938.1_3'UTR	p.N598K	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	13	1863	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	598						Missense_Mutation	SNP	ENST00000375541.5	37	c.1794C>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	3.949	-0.012693	0.07727	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.09255	3.0	4.99	-6.78	0.01721	.	.	.	.	.	T	0.03915	0.0110	N	0.14661	0.345	0.19300	N	0.99997	B;B;B	0.20988	0.004;0.005;0.05	B;B;B	0.22753	0.01;0.014;0.041	T	0.43556	-0.9384	9	0.05721	T	0.95	.	5.7365	0.18069	0.1029:0.1771:0.1014:0.6186	.	461;461;598	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	K	598;479	ENSP00000364691:N598K	ENSP00000364691:N598K	N	+	3	2	CROCC	17139161	0.000000	0.05858	0.002000	0.10522	0.952000	0.60782	-5.200000	0.00142	-1.382000	0.02109	-0.254000	0.11334	AAC		0.647	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		3	10	3	10	---	---	---	---
IGKV2D-29	28882	broad.mit.edu	37	2	89987009	89987009	+	RNA	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:89987009C>A	ENST00000491977.1	+	0	320									immunoglobulin kappa variable 2D-29																		ACAGATTTCACACTGAAAATC	0.517																																						ENST00000491977.1																			0																				47.0	54.0	52.0					2																	89987009		1854	4077	5931			28882							g.chr2:89987009C>A	M31952		2p11.2	2012-02-08			ENSG00000243264	ENSG00000243264		"""Immunoglobulins / IGK locus"""	5800	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151619		2.37:g.89987009C>A														0	320	+									RNA	SNP	ENST00000491977.1	37																																																																																						0.517	IGKV2D-29-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323291.1	NG_000833		4	104	4	104	---	---	---	---
ST6GAL2	84620	broad.mit.edu	37	2	107459775	107459775	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:107459775C>T	ENST00000409382.3	-	2	1269	c.659G>A	c.(658-660)cGc>cAc	p.R220H	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R220H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R220H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	220					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTTCTGCAGGCGCGGGTTCAG	0.647																																						ENST00000409382.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(658-660)cGc>cAc		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							39.0	40.0	40.0					2																	107459775		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459775C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.659G>A	2.37:g.107459775C>T	ENSP00000386942:p.Arg220His					ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R220H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R220H	p.R220H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			2	1269	-			220					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.659G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856093	0.91355	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.50548	1.84;1.84;0.74	5.14	4.26	0.50523	.	0.234460	0.45361	D	0.000376	T	0.70937	0.3281	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.975	T	0.76812	-0.2821	10	0.87932	D	0	-17.5576	14.2741	0.66167	0.1495:0.8505:0.0:0.0	.	220;220	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	H	220	ENSP00000355273:R220H;ENSP00000386942:R220H;ENSP00000387332:R220H	ENSP00000355273:R220H	R	-	2	0	ST6GAL2	106826207	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.329000	0.79170	1.161000	0.42604	0.561000	0.74099	CGC		0.647	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		6	12	6	12	---	---	---	---
SLC25A12	8604	broad.mit.edu	37	2	172666119	172666119	+	Silent	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:172666119G>A	ENST00000422440.2	-	13	1339	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G	SLC25A12_ENST00000392592.4_Silent_p.G327G	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	434					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TACTTACACAGCCTCCAGCAA	0.388																																						ENST00000422440.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(1300-1302)ggC>ggT		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						129.0	136.0	134.0					2																	172666119		2203	4300	6503	SO:0001819	synonymous_variant	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172666119G>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1302C>T	2.37:g.172666119G>A						SLC25A12_ENST00000392592.4_Silent_p.G327G	p.G434G	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		13	1339	-			434					B3KR64|Q96AM8	Silent	SNP	ENST00000422440.2	37	c.1302C>T	CCDS33327.1																																																																																				0.388	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		6	126	6	126	---	---	---	---
IL17RB	55540	broad.mit.edu	37	3	53892809	53892809	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:53892809T>G	ENST00000288167.3	+	9	820	c.811T>G	c.(811-813)Tgc>Ggc	p.C271G	RP11-884K10.7_ENST00000607783.1_RNA	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	271					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AGTTGTGCTCTGCCCACAAAC	0.493																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(811-813)Tgc>Ggc		interleukin 17 receptor B							94.0	82.0	86.0					3																	53892809		2203	4300	6503	SO:0001583	missense	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53892809T>G	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.811T>G	3.37:g.53892809T>G	ENSP00000288167:p.Cys271Gly						p.C271G	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	9	820	+			271					Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	c.811T>G	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.115808	0.77323	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.22539	3.0;1.95	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000018	T	0.42404	0.1201	M	0.64997	1.995	0.41109	D	0.98572	D	0.89917	1.0	D	0.83275	0.996	T	0.20174	-1.0283	10	0.38643	T	0.18	-20.7985	12.6954	0.57001	0.0:0.0:0.0:1.0	.	271	Q9NRM6	I17RB_HUMAN	G	271;255	ENSP00000288167:C271G;ENSP00000418638:C255G	ENSP00000288167:C271G	C	+	1	0	IL17RB	53867849	0.968000	0.33430	0.846000	0.33378	0.318000	0.28184	3.611000	0.54132	2.251000	0.74343	0.533000	0.62120	TGC		0.493	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		4	55	4	55	---	---	---	---
PRICKLE2	166336	broad.mit.edu	37	3	64085458	64085458	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:64085458C>T	ENST00000295902.6	-	8	2389	c.1804G>A	c.(1804-1806)Gca>Aca	p.A602T	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A658T|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	602					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACTGACTCTGCGCTCCGGAAC	0.552																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(1804-1806)Gca>Aca		prickle homolog 2 (Drosophila)							131.0	128.0	129.0					3																	64085458		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085458C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1804G>A	3.37:g.64085458C>T	ENSP00000295902:p.Ala602Thr					PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A658T|PRICKLE2-AS1_ENST00000460946.1_RNA	p.A602T	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2389	-		Lung NSC(201;0.136)	602					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.1804G>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681400	0.29872	.	.	ENSG00000163637	ENST00000295902	D	0.85013	-1.93	5.62	5.62	0.85841	.	0.076272	0.56097	D	0.000040	T	0.73885	0.3644	N	0.16166	0.38	0.43230	D	0.995121	B	0.14012	0.009	B	0.06405	0.002	T	0.69327	-0.5174	10	0.07175	T	0.84	-15.0913	19.6573	0.95847	0.0:1.0:0.0:0.0	.	602	Q7Z3G6	PRIC2_HUMAN	T	602	ENSP00000295902:A602T	ENSP00000295902:A602T	A	-	1	0	PRICKLE2	64060498	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	3.229000	0.51278	2.655000	0.90218	0.591000	0.81541	GCA		0.552	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		8	106	8	106	---	---	---	---
NME9	347736	broad.mit.edu	37	3	138024911	138024911	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:138024911T>G	ENST00000333911.3	-	8	598	c.571A>C	c.(571-573)Aca>Cca	p.T191P	NME9_ENST00000536478.1_Missense_Mutation_p.T130P|NME9_ENST00000484930.1_Missense_Mutation_p.T128P|NME9_ENST00000383180.2_Missense_Mutation_p.T130P|NME9_ENST00000341790.5_Missense_Mutation_p.T128P|NME9_ENST00000317876.4_Missense_Mutation_p.T130P			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	191	NDK.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TCTTCATTTGTTAGAATTTCA	0.363																																						ENST00000383180.2																			0											c.(388-390)Aca>Cca		NME/NM23 family member 9							125.0	122.0	123.0					3																	138024911		2203	4300	6503	SO:0001583	missense	347736				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr3:138024911T>G	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.571A>C	3.37:g.138024911T>G	ENSP00000335444:p.Thr191Pro					NME9_ENST00000536478.1_Missense_Mutation_p.T130P|NME9_ENST00000317876.4_Missense_Mutation_p.T130P|NME9_ENST00000341790.5_Missense_Mutation_p.T128P|NME9_ENST00000333911.3_Missense_Mutation_p.T191P|NME9_ENST00000484930.1_Missense_Mutation_p.T128P	p.T130P	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN			9	625	-			191					Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	ENST00000333911.3	37	c.388A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.37|14.37	2.516517|2.516517	0.44763|0.44763	.|.	.|.	ENSG00000181322|ENSG00000181322	ENST00000474690|ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911;ENST00000475751	.|T;T;T;T;T;T;T	.|0.55413	.|0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.16|5.16	-3.24|-3.24	0.05094|0.05094	.|.	.|0.109676	.|0.64402	.|D	.|0.000008	T|T	0.42337|0.42337	0.1198|0.1198	L|L	0.27053|0.27053	0.805|0.805	0.20403|0.20403	N|N	0.999906|0.999906	.|P;D;P	.|0.54397	.|0.941;0.966;0.731	.|P;P;B	.|0.53809	.|0.735;0.602;0.242	T|T	0.44314|0.44314	-0.9336|-0.9336	5|10	.|0.56958	.|D	.|0.05	-1.9234|-1.9234	6.7553|6.7553	0.23510|0.23510	0.1412:0.4894:0.0:0.3694|0.1412:0.4894:0.0:0.3694	.|.	.|128;191;130	.|Q86XW9-3;Q86XW9;Q86XW9-2	.|.;TXND6_HUMAN;.	T|P	121|130;130;128;128;130;191;191	.|ENSP00000372667:T130P;ENSP00000321929:T130P;ENSP00000419882:T128P;ENSP00000341084:T128P;ENSP00000440143:T130P;ENSP00000335444:T191P;ENSP00000419147:T191P	.|ENSP00000321929:T130P	N|T	-|-	2|1	0|0	TXNDC6|TXNDC6	139507601|139507601	0.992000|0.992000	0.36948|0.36948	0.000000|0.000000	0.03702|0.03702	0.929000|0.929000	0.56500|0.56500	0.744000|0.744000	0.26245|0.26245	-0.507000|-0.507000	0.06549|0.06549	-0.353000|-0.353000	0.07706|0.07706	AAC|ACA		0.363	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130		4	69	4	69	---	---	---	---
KIAA0922	23240	broad.mit.edu	37	4	154510059	154510059	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr4:154510059G>A	ENST00000409663.3	+	16	1619	c.1567G>A	c.(1567-1569)Ggg>Agg	p.G523R	KIAA0922_ENST00000440693.1_Missense_Mutation_p.G524R|KIAA0922_ENST00000409959.3_Missense_Mutation_p.G524R	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	523						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TAATTGGAATGGGAGCCTTTC	0.313																																						ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1567-1569)Ggg>Agg		KIAA0922							89.0	90.0	90.0					4																	154510059		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154510059G>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.1567G>A	4.37:g.154510059G>A	ENSP00000386574:p.Gly523Arg					KIAA0922_ENST00000409959.3_Missense_Mutation_p.G524R|KIAA0922_ENST00000440693.1_Missense_Mutation_p.G524R	p.G523R	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			16	1619	+	all_hematologic(180;0.093)	Renal(120;0.118)	523					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.1567G>A	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	2.342	-0.350855	0.05173	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.15256	2.65;2.44;2.65;2.44	5.95	0.264	0.15607	.	0.679746	0.16482	N	0.212492	T	0.07279	0.0184	N	0.10874	0.06	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.001	T	0.37150	-0.9718	10	0.23302	T	0.38	-0.0244	6.2218	0.20685	0.5166:0.2494:0.234:0.0	.	524;524;523	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	R	523;524;524;385	ENSP00000386574:G523R;ENSP00000409663:G524R;ENSP00000386787:G524R;ENSP00000240487:G385R	ENSP00000240487:G385R	G	+	1	0	KIAA0922	154729509	0.023000	0.18921	0.026000	0.17262	0.816000	0.46133	-0.033000	0.12246	-0.290000	0.09025	-0.142000	0.14014	GGG		0.313	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		5	82	5	82	---	---	---	---
HMGCS1	3157	broad.mit.edu	37	5	43293008	43293008	+	Silent	SNP	A	A	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:43293008A>T	ENST00000325110.6	-	9	1457	c.1251T>A	c.(1249-1251)ggT>ggA	p.G417G	HMGCS1_ENST00000433297.2_Silent_p.G417G|CTD-2636A23.2_ENST00000569313.1_RNA	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	417					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						CTGGTGCCACACCAGTTCTTG	0.353																																						ENST00000325110.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						c.(1249-1251)ggT>ggA		3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)							73.0	77.0	75.0					5																	43293008		2202	4300	6502	SO:0001819	synonymous_variant	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43293008A>T		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.1251T>A	5.37:g.43293008A>T						HMGCS1_ENST00000433297.2_Silent_p.G417G	p.G417G	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN			9	1457	-			417					B2RDL8	Silent	SNP	ENST00000325110.6	37	c.1251T>A	CCDS34154.1																																																																																				0.353	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			13	142	13	142	---	---	---	---
EMB	133418	broad.mit.edu	37	5	49706712	49706712	+	Splice_Site	SNP	T	T	A	rs201823568		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:49706712T>A	ENST00000303221.5	-	4	686	c.471A>T	c.(469-471)aaA>aaT	p.K157N	EMB_ENST00000514111.1_Splice_Site_p.K107N|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Splice_Site_p.K103N	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	157	Ig-like V-type 1.				cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				AATACTGACCTTTGAAATTAA	0.274																																						ENST00000303221.5																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15						c.(469-471)aaA>aaT		embigin							34.0	36.0	35.0					5																	49706712		2199	4284	6483	SO:0001630	splice_region_variant	133418					integral to membrane		g.chr5:49706712T>A	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.472+1A>T	5.37:g.49706712T>A						EMB_ENST00000514111.1_Splice_Site_p.K107N|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Splice_Site_p.K103N	p.K157N	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN			4	686	-	Lung SC(58;0.218)	Lung NSC(810;0.0795)	157			Ig-like V-type 1.		B7Z6S3|B7Z902	Splice_Site	SNP	ENST00000303221.5	37	c.471A>T	CCDS3953.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215967	0.58452	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111	T;T;T	0.49720	0.78;0.77;0.78	5.05	3.86	0.44501	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.507102	0.21095	N	0.080245	T	0.46328	0.1387	L	0.50333	1.59	0.31605	N	0.652241	P;P	0.50369	0.704;0.934	B;P	0.47915	0.236;0.561	T	0.53606	-0.8415	9	.	.	.	-11.1926	9.1148	0.36750	0.0:0.0:0.1838:0.8162	.	103;157	D6RDX7;Q6PCB8	.;EMB_HUMAN	N	157;129;103;107	ENSP00000302289:K157N;ENSP00000425215:K103N;ENSP00000426404:K107N	.	K	-	3	2	EMB	49742469	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	2.767000	0.47637	0.747000	0.32809	0.451000	0.29950	AAA		0.274	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449	Missense_Mutation	3	27	3	27	---	---	---	---
F2R	2149	broad.mit.edu	37	5	76028690	76028690	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:76028690C>T	ENST00000319211.4	+	2	905	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	214					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CCTCTCCTGGCGTACTCTGGG	0.537																																						ENST00000319211.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16						c.(640-642)Cgt>Tgt		coagulation factor II (thrombin) receptor	Streptokinase(DB00086)						169.0	168.0	169.0					5																	76028690		2203	4300	6503	SO:0001583	missense	2149				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	g.chr5:76028690C>T	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.640C>T	5.37:g.76028690C>T	ENSP00000321326:p.Arg214Cys						p.R214C	NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN		all cancers(79;4.43e-43)	2	905	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)	214					Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	c.640C>T	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955751	0.92726	.	.	ENSG00000181104	ENST00000319211	T	0.39406	1.08	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71558	0.3354	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77146	-0.2695	10	0.87932	D	0	-28.3121	19.0012	0.92834	0.0:1.0:0.0:0.0	.	214	P25116	PAR1_HUMAN	C	214	ENSP00000321326:R214C	ENSP00000321326:R214C	R	+	1	0	F2R	76064446	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.622000	0.67750	2.786000	0.95864	0.561000	0.74099	CGT		0.537	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			6	139	6	139	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127653927	127653927	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:127653927T>C	ENST00000508053.1	-	42	5605	c.4631A>G	c.(4630-4632)aAt>aGt	p.N1544S	FBN2_ENST00000262464.4_Missense_Mutation_p.N1544S			P35556	FBN2_HUMAN	fibrillin 2	1544	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACATAGGCCATTGACACAGTT	0.433																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4630-4632)aAt>aGt		fibrillin 2							214.0	204.0	207.0					5																	127653927		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127653927T>C	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4631A>G	5.37:g.127653927T>C	ENSP00000424571:p.Asn1544Ser					FBN2_ENST00000262464.4_Missense_Mutation_p.N1544S	p.N1544S			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	42	5605	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1544			EGF-like 26; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.4631A>G	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220522	0.39201	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.94497	-3.44;-3.44	5.16	4.02	0.46733	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.085587	0.50627	D	0.000108	D	0.87354	0.6156	N	0.16862	0.45	0.43448	D	0.995638	P	0.36909	0.573	B	0.36666	0.23	D	0.85003	0.0901	10	0.20046	T	0.44	.	11.2314	0.48914	0.0:0.0759:0.0:0.9241	.	1544	P35556	FBN2_HUMAN	S	1544	ENSP00000262464:N1544S;ENSP00000424571:N1544S	ENSP00000262464:N1544S	N	-	2	0	FBN2	127681826	1.000000	0.71417	0.916000	0.36221	0.986000	0.74619	4.042000	0.57347	2.291000	0.77112	0.533000	0.62120	AAT		0.433	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		11	189	11	189	---	---	---	---
RAPGEF6	51735	broad.mit.edu	37	5	130799890	130799890	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:130799890T>C	ENST00000509018.1	-	18	2529	c.2324A>G	c.(2323-2325)gAa>gGa	p.E775G	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E825G|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E775G|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E780G|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E490G|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E775G|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E775G|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E775G	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	775	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAAACTACTTCTTTAGCTGT	0.373																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(2323-2325)gAa>gGa		Rap guanine nucleotide exchange factor (GEF) 6							96.0	84.0	88.0					5																	130799890		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130799890T>C	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.2324A>G	5.37:g.130799890T>C	ENSP00000421684:p.Glu775Gly					RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E775G|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E775G|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E775G|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E775G|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E825G|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E780G|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E490G	p.E775G	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	18	2529	-			775			Ras-associating.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.2324A>G	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	34	5.295205	0.95574	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85	5.64	5.64	0.86602	Ras-association (3);Ras guanine nucleotide exchange factor, domain (1);	0.045225	0.85682	D	0.000000	T	0.50650	0.1628	M	0.73962	2.25	0.80722	D	1	D;P;P;D;D;P;P	0.53619	0.961;0.932;0.917;0.961;0.961;0.951;0.868	P;P;P;P;D;P;P	0.63703	0.889;0.811;0.64;0.852;0.917;0.823;0.843	T	0.54370	-0.8304	10	0.87932	D	0	.	15.854	0.78960	0.0:0.0:0.0:1.0	.	775;775;775;490;825;780;775	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	G	775;780;775;775;780;490;775;775;825	ENSP00000421684:E775G;ENSP00000309298:E780G;ENSP00000426081:E775G;ENSP00000296859:E775G;ENSP00000426910:E490G;ENSP00000311419:E775G;ENSP00000425389:E775G;ENSP00000426948:E825G	ENSP00000426948:E825G	E	-	2	0	RAPGEF6;FNIP1	130827789	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.655000	0.83696	2.142000	0.66516	0.528000	0.53228	GAA		0.373	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		15	43	15	43	---	---	---	---
NOTCH4	4855	broad.mit.edu	37	6	32180342	32180342	+	Silent	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr6:32180342C>A	ENST00000375023.3	-	17	2727	c.2589G>T	c.(2587-2589)ggG>ggT	p.G863G	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	863	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGAAGGAGGGCCCAGTCTGGA	0.607																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(2587-2589)ggG>ggT		notch 4							153.0	129.0	137.0					6																	32180342		1510	2708	4218	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32180342C>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2589G>T	6.37:g.32180342C>A						NOTCH4_ENST00000465528.1_5'UTR	p.G863G	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			17	2727	-			863			EGF-like 22.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.2589G>T	CCDS34420.1																																																																																				0.607	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			7	67	7	67	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43182853	43182853	+	Missense_Mutation	SNP	G	G	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr6:43182853G>C	ENST00000252050.4	+	30	5809	c.5725G>C	c.(5725-5727)Gga>Cga	p.G1909R	CUL9_ENST00000372647.2_Missense_Mutation_p.G1881R|CUL9_ENST00000354495.3_Missense_Mutation_p.G1799R|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1909					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AAATCCTCCTGGAACCCTGGG	0.567																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(5725-5727)Gga>Cga		cullin 9							96.0	99.0	98.0					6																	43182853		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43182853G>C	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5725G>C	6.37:g.43182853G>C	ENSP00000252050:p.Gly1909Arg					RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.G1881R|CUL9_ENST00000354495.3_Missense_Mutation_p.G1799R	p.G1909R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			30	5809	+			1909					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.5725G>C	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	7.693	0.691543	0.15039	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.72942	-0.7;-0.7;-0.54	4.81	2.85	0.33270	Cullin protein, neddylation domain (1);	0.216395	0.38326	N	0.001733	T	0.19287	0.0463	N	0.17474	0.49	0.26344	N	0.97731	P;B;B	0.34462	0.454;0.39;0.39	B;B;B	0.31290	0.082;0.127;0.127	T	0.38134	-0.9675	10	0.02654	T	1	-12.5862	3.2712	0.06883	0.221:0.0:0.5705:0.2085	.	1799;1881;1909	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	R	1909;1799;1881	ENSP00000252050:G1909R;ENSP00000346490:G1799R;ENSP00000361730:G1881R	ENSP00000252050:G1909R	G	+	1	0	CUL9	43290831	0.898000	0.30612	0.872000	0.34217	0.977000	0.68977	1.313000	0.33585	1.239000	0.43787	0.655000	0.94253	GGA		0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		31	57	31	57	---	---	---	---
SLC26A4	5172	broad.mit.edu	37	7	107340565	107340565	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr7:107340565C>A	ENST00000265715.3	+	15	1876	c.1652C>A	c.(1651-1653)tCc>tAc	p.S551Y	SLC26A4_ENST00000544569.1_Missense_Mutation_p.S138Y|SLC26A4_ENST00000541474.1_Missense_Mutation_p.S112Y|SLC26A4_ENST00000543100.1_Missense_Mutation_p.S120Y|SLC26A4_ENST00000480841.1_3'UTR	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	551	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTAGATTTTCCAGTCCTATT	0.308									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1651-1653)tCc>tAc		solute carrier family 26 (anion exchanger), member 4							115.0	120.0	118.0					7																	107340565		2202	4299	6501	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107340565C>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1652C>A	7.37:g.107340565C>A	ENSP00000265715:p.Ser551Tyr					SLC26A4_ENST00000541474.1_Missense_Mutation_p.S112Y|SLC26A4_ENST00000543100.1_Missense_Mutation_p.S120Y|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000544569.1_Missense_Mutation_p.S138Y	p.S551Y	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			15	1876	+			551			STAS.		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.1652C>A	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516119	0.44763	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.55	4.59	0.56863	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.246012	0.34777	N	0.003691	D	0.86460	0.5938	L	0.43152	1.355	0.37615	D	0.921064	B;B;B	0.21309	0.029;0.036;0.054	B;B;B	0.27262	0.022;0.04;0.078	D	0.85618	0.1262	10	0.54805	T	0.06	.	17.1044	0.86658	0.1353:0.8647:0.0:0.0	.	112;138;551	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	Y	551;112;138;120	ENSP00000265715:S551Y;ENSP00000439743:S112Y;ENSP00000437427:S138Y;ENSP00000441209:S120Y	ENSP00000265715:S551Y	S	+	2	0	SLC26A4	107127801	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	2.870000	0.48451	2.624000	0.88883	0.563000	0.77884	TCC		0.308	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		5	60	5	60	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70515888	70515888	+	Missense_Mutation	SNP	G	G	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr8:70515888G>C	ENST00000260128.4	+	12	1961	c.1244G>C	c.(1243-1245)aGa>aCa	p.R415T	SULF1_ENST00000402687.4_Missense_Mutation_p.R415T|SULF1_ENST00000458141.2_Missense_Mutation_p.R415T|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.R415T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	415					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTAGTGGAAAGAGGGTAATTA	0.398																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1243-1245)aGa>aCa		sulfatase 1							101.0	97.0	98.0					8																	70515888		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70515888G>C	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1244G>C	8.37:g.70515888G>C	ENSP00000260128:p.Arg415Thr					SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.R415T|SULF1_ENST00000419716.3_Missense_Mutation_p.R415T|SULF1_ENST00000458141.2_Missense_Mutation_p.R415T	p.R415T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		12	1961	+	Breast(64;0.0654)		415					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1244G>C	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930748	0.92389	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99136	-5.47;-5.47;-5.47;-5.47	5.92	5.92	0.95590	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98909	0.9630	M	0.79343	2.45	0.80722	D	1	B	0.29766	0.256	B	0.42422	0.387	D	0.98440	1.0586	10	0.66056	D	0.02	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	415	Q8IWU6	SULF1_HUMAN	T	415	ENSP00000403040:R415T;ENSP00000260128:R415T;ENSP00000385704:R415T;ENSP00000390315:R415T	ENSP00000260128:R415T	R	+	2	0	SULF1	70678442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.822000	0.97130	0.650000	0.86243	AGA		0.398	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		3	46	3	46	---	---	---	---
DKK1	22943	broad.mit.edu	37	10	54076405	54076405	+	Silent	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr10:54076405C>A	ENST00000373970.3	+	4	778	c.639C>A	c.(637-639)gtC>gtA	p.V213V	PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	213	DKK-type Cys-2.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						GTAAACCTGTCCTGAAAGAAG	0.473																																						ENST00000373970.3																			0				kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						c.(637-639)gtC>gtA		dickkopf WNT signaling pathway inhibitor 1							129.0	118.0	122.0					10																	54076405		2203	4300	6503	SO:0001819	synonymous_variant	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54076405C>A		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.639C>A	10.37:g.54076405C>A							p.V213V	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN			4	778	+			213			DKK-type Cys-2.		B2RC19	Silent	SNP	ENST00000373970.3	37	c.639C>A	CCDS7246.1																																																																																				0.473	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			4	89	4	89	---	---	---	---
OR5T1	390155	broad.mit.edu	37	11	56043659	56043659	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr11:56043659G>A	ENST00000313033.2	+	1	631	c.545G>A	c.(544-546)gGa>gAa	p.G182E		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TCCTTCTGTGGATCCAATGAA	0.413																																						ENST00000313033.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(544-546)gGa>gAa		olfactory receptor, family 5, subfamily T, member 1							256.0	234.0	241.0					11																	56043659		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043659G>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.545G>A	11.37:g.56043659G>A	ENSP00000323612:p.Gly182Glu						p.G182E	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	631	+	Esophageal squamous(21;0.00448)		182					B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.545G>A	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496951	0.64186	.	.	ENSG00000181698	ENST00000313033	T	0.38887	1.11	3.44	-6.88	0.01665	GPCR, rhodopsin-like superfamily (1);	0.860162	0.09802	N	0.753966	T	0.49729	0.1574	M	0.70108	2.13	0.09310	N	1	B	0.30146	0.27	B	0.43155	0.41	T	0.61048	-0.7141	10	0.54805	T	0.06	.	16.1798	0.81890	0.0929:0.1383:0.7688:0.0	.	182	Q8NG75	OR5T1_HUMAN	E	182	ENSP00000323612:G182E	ENSP00000323612:G182E	G	+	2	0	OR5T1	55800235	0.000000	0.05858	0.211000	0.23655	0.605000	0.37080	0.090000	0.15025	-0.914000	0.03827	0.465000	0.42564	GGA		0.413	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		38	220	38	220	---	---	---	---
ZNF202	7753	broad.mit.edu	37	11	123597404	123597404	+	Silent	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr11:123597404C>A	ENST00000529691.1	-	7	1467	c.1248G>T	c.(1246-1248)ctG>ctT	p.L416L	ZNF202_ENST00000530393.1_Silent_p.L416L|ZNF202_ENST00000336139.4_Silent_p.L416L			O95125	ZN202_HUMAN	zinc finger protein 202	416					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TGTGAGTCCTCAGGTGTCTAA	0.473																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1246-1248)ctG>ctT		zinc finger protein 202							123.0	119.0	121.0					11																	123597404		2202	4299	6501	SO:0001819	synonymous_variant	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123597404C>A	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.1248G>T	11.37:g.123597404C>A						ZNF202_ENST00000529691.1_Silent_p.L416L|ZNF202_ENST00000530393.1_Silent_p.L416L	p.L416L			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	8	1610	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	416					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Silent	SNP	ENST00000529691.1	37	c.1248G>T	CCDS8443.1																																																																																				0.473	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		12	104	12	104	---	---	---	---
RILPL2	196383	broad.mit.edu	37	12	123915096	123915096	+	Silent	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr12:123915096C>T	ENST00000280571.8	-	2	746	c.450G>A	c.(448-450)tcG>tcA	p.S150S		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	150	RILP-like.				epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|primary cilium (GO:0072372)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		CCAGGAGCTGCGACTTGAGTT	0.582																																						ENST00000280571.8																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(448-450)tcG>tcA		Rab interacting lysosomal protein-like 2							135.0	128.0	131.0					12																	123915096		2203	4300	6503	SO:0001819	synonymous_variant	196383					cytosol|plasma membrane	identical protein binding	g.chr12:123915096C>T	AB085763	CCDS9248.1	12q24.31	2007-11-27				ENSG00000150977			28787	protein-coding gene	gene with protein product		614093				14668488	Standard	NM_145058		Approved	MGC7036, FLJ30380, FLJ32372	uc001uey.1	Q969X0		ENST00000280571.8:c.450G>A	12.37:g.123915096C>T							p.S150S	NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)	2	746	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		150			RILP-like.			Silent	SNP	ENST00000280571.8	37	c.450G>A	CCDS9248.1																																																																																				0.582	RILPL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145058		4	99	4	99	---	---	---	---
ZNF664	144348	broad.mit.edu	37	12	124496834	124496834	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr12:124496834T>G	ENST00000539644.1	+	6	1973	c.143T>G	c.(142-144)aTt>aGt	p.I48S	FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000337815.4_Missense_Mutation_p.I48S|ZNF664_ENST00000392404.3_Missense_Mutation_p.I48S|ZNF664_ENST00000538932.2_Missense_Mutation_p.I48S			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	48					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)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GAACTTCATATTCATTGGAGA	0.353																																						ENST00000539644.1																			0				breast(1)|large_intestine(5)|lung(6)|skin(1)	13						c.(142-144)aTt>aGt		zinc finger protein 664							90.0	100.0	96.0					12																	124496834		2203	4300	6503	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124496834T>G		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.143T>G	12.37:g.124496834T>G	ENSP00000441405:p.Ile48Ser					ZNF664_ENST00000538932.2_Missense_Mutation_p.I48S|ZNF664_ENST00000337815.4_Missense_Mutation_p.I48S|ZNF664_ENST00000392404.3_Missense_Mutation_p.I48S|FAM101A_ENST00000545615.1_Intron	p.I48S			Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	1973	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		48					B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.143T>G	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	T	3.719	-0.057861	0.07317	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	4.4	4.4	0.53042	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40908	D	0.000987	T	0.07818	0.0196	N	0.04148	-0.265	0.09310	N	1	B	0.31730	0.337	B	0.30943	0.122	T	0.33111	-0.9881	9	.	.	.	-30.4371	12.2516	0.54601	0.0:0.0:0.0:1.0	.	48	Q8N3J9	ZN664_HUMAN	S	48	ENSP00000441405:I48S;ENSP00000376205:I48S;ENSP00000440645:I48S;ENSP00000337320:I48S	.	I	+	2	0	ZNF664	123062787	0.000000	0.05858	0.697000	0.30258	0.916000	0.54674	-0.423000	0.07034	2.202000	0.70862	0.533000	0.62120	ATT		0.353	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		13	86	13	86	---	---	---	---
CEBPE	1053	broad.mit.edu	37	14	23586839	23586839	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr14:23586839T>C	ENST00000206513.5	-	2	1227	c.703A>G	c.(703-705)Aag>Gag	p.K235E		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	235	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TCCAGCACCTTCTGCTGCGTC	0.622																																					NSCLC(63;1230 1818 14565 22565)	ENST00000206513.5																			0				large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(703-705)Aag>Gag		CCAAT/enhancer binding protein (C/EBP), epsilon							81.0	68.0	72.0					14																	23586839		2203	4300	6503	SO:0001583	missense	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23586839T>C		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.703A>G	14.37:g.23586839T>C	ENSP00000206513:p.Lys235Glu						p.K235E	NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	2	1227	-	all_cancers(95;4.6e-05)		235					Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	c.703A>G	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116690	0.77323	.	.	ENSG00000092067	ENST00000206513	T	0.47869	0.83	5.34	5.34	0.76211	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	M	0.86028	2.79	0.34724	D	0.729023	D	0.55605	0.972	P	0.59595	0.86	T	0.79429	-0.1807	10	0.87932	D	0	-31.7041	10.0331	0.42111	0.0:0.0:0.2882:0.7118	.	235	Q15744	CEBPE_HUMAN	E	235	ENSP00000206513:K235E	ENSP00000206513:K235E	K	-	1	0	CEBPE	22656679	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.618000	0.46393	2.025000	0.59659	0.533000	0.62120	AAG		0.622	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		7	53	7	53	---	---	---	---
IFT140	9742	broad.mit.edu	37	16	1570707	1570707	+	Missense_Mutation	SNP	C	C	G			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr16:1570707C>G	ENST00000426508.2	-	27	3919	c.3556G>C	c.(3556-3558)Gag>Cag	p.E1186Q	IFT140_ENST00000361339.5_Missense_Mutation_p.E380Q	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1186					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CGCCGCGACTCCTCAGGCAGG	0.627																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3556-3558)Gag>Cag		intraflagellar transport 140 homolog (Chlamydomonas)							30.0	28.0	28.0					16																	1570707		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1570707C>G	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3556G>C	16.37:g.1570707C>G	ENSP00000406012:p.Glu1186Gln					IFT140_ENST00000361339.5_Missense_Mutation_p.E380Q	p.E1186Q	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			27	3919	-		Hepatocellular(780;0.219)	1186					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.3556G>C	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	34	5.329283	0.95733	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.60672	1.39;0.17	5.78	5.78	0.91487	.	0.261213	0.37906	N	0.001883	T	0.79143	0.4396	M	0.84846	2.72	0.58432	D	0.999999	D;D	0.71674	0.992;0.998	P;D	0.67231	0.818;0.95	T	0.78285	-0.2263	10	0.44086	T	0.13	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	1186;873	Q96RY7;B4DR58	IF140_HUMAN;.	Q	1186;380;1186	ENSP00000354895:E380Q;ENSP00000406012:E1186Q	ENSP00000354895:E380Q	E	-	1	0	IFT140	1510708	1.000000	0.71417	0.801000	0.32222	0.956000	0.61745	7.713000	0.84693	2.894000	0.99253	0.655000	0.94253	GAG		0.627	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		7	12	7	12	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21139017	21139017	+	Missense_Mutation	SNP	A	A	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr16:21139017A>C	ENST00000261383.3	-	8	1198	c.1199T>G	c.(1198-1200)cTt>cGt	p.L400R	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.L400R	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	400	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGTTGAGAAGAGTCTGGTG	0.493																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(1198-1200)cTt>cGt		dynein, axonemal, heavy chain 3							131.0	119.0	123.0					16																	21139017		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21139017A>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1199T>G	16.37:g.21139017A>C	ENSP00000261383:p.Leu400Arg					DNAH3_ENST00000415178.1_Missense_Mutation_p.L400R|CTC-508F8.1_ENST00000575612.1_RNA	p.L400R	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	8	1198	-			400			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.1199T>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.284504	0.40394	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.40476	1.03;1.21	5.57	4.44	0.53790	.	0.864471	0.09761	N	0.759309	T	0.62478	0.2431	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.87578	0.799;0.998	T	0.53194	-0.8473	10	0.87932	D	0	.	9.5149	0.39100	0.8425:0.0:0.0:0.1575	.	400;371	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	R	400;400;371	ENSP00000261383:L400R;ENSP00000394245:L400R	ENSP00000261383:L400R	L	-	2	0	DNAH3	21046518	1.000000	0.71417	0.307000	0.25127	0.280000	0.26924	6.338000	0.72963	0.886000	0.36113	0.460000	0.39030	CTT		0.493	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	97	4	97	---	---	---	---
EFCAB5	374786	broad.mit.edu	37	17	28380700	28380700	+	Silent	SNP	A	A	G	rs34709422		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:28380700A>G	ENST00000394835.3	+	10	1920	c.1728A>G	c.(1726-1728)caA>caG	p.Q576Q	EFCAB5_ENST00000320856.5_Silent_p.Q576Q|EFCAB5_ENST00000536908.2_Silent_p.Q520Q|EFCAB5_ENST00000541045.1_Silent_p.Q233Q|EFCAB5_ENST00000378738.3_Silent_p.Q576Q|EFCAB5_ENST00000394832.2_Silent_p.Q576Q	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	576							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTACAGAACAAGGACAGCACA	0.453																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1726-1728)caA>caG		EF-hand calcium binding domain 5							179.0	166.0	171.0					17																	28380700		2063	4210	6273	SO:0001819	synonymous_variant	374786						calcium ion binding	g.chr17:28380700A>G	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1728A>G	17.37:g.28380700A>G						EFCAB5_ENST00000394832.2_Silent_p.Q576Q|EFCAB5_ENST00000320856.5_Silent_p.Q576Q|EFCAB5_ENST00000541045.1_Silent_p.Q233Q|EFCAB5_ENST00000378738.3_Silent_p.Q576Q|EFCAB5_ENST00000536908.2_Silent_p.Q520Q	p.Q576Q	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN			10	1920	+			576					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	ENST00000394835.3	37	c.1728A>G	CCDS11254.2																																																																																				0.453	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		5	101	5	101	---	---	---	---
CYGB	114757	broad.mit.edu	37	17	74527562	74527562	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:74527562C>T	ENST00000293230.5	-	2	717	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	PRCD_ENST00000592432.1_Intron|CYGB_ENST00000590175.1_Missense_Mutation_p.V54M|CYGB_ENST00000589342.1_Missense_Mutation_p.V119M|CYGB_ENST00000589145.1_Missense_Mutation_p.V54M|CYGB_ENST00000586160.1_5'Flank	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	119	Globin.				oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						ACCGGTTCCACCTTGTGCTTG	0.642																																						ENST00000293230.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						c.(355-357)Gtg>Atg		cytoglobin							105.0	89.0	95.0					17																	74527562		2203	4300	6503	SO:0001583	missense	114757				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity	g.chr17:74527562C>T	AJ315162	CCDS11746.1	17q25	2008-07-18				ENSG00000161544			16505	protein-coding gene	gene with protein product	"""stellate cell activation-associated protein"", ""histoglobin"""	608759				11919282	Standard	NM_134268		Approved	HGB, STAP	uc002jru.2	Q8WWM9		ENST00000293230.5:c.355G>A	17.37:g.74527562C>T	ENSP00000293230:p.Val119Met					CYGB_ENST00000590175.1_Missense_Mutation_p.V54M|CYGB_ENST00000589342.1_Missense_Mutation_p.V119M|PRCD_ENST00000592432.1_Intron|CYGB_ENST00000589145.1_Missense_Mutation_p.V54M	p.V119M	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN			2	717	-			119			Globin.		Q541Y7|Q8N2X5	Missense_Mutation	SNP	ENST00000293230.5	37	c.355G>A	CCDS11746.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490241	0.84962	.	.	ENSG00000161544	ENST00000293230	D	0.95447	-3.71	5.52	5.52	0.82312	Globin-like (1);Globin, structural domain (1);	0.000000	0.85682	D	0.000000	D	0.98435	0.9479	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99297	1.0900	10	0.87932	D	0	-16.8729	19.4415	0.94823	0.0:1.0:0.0:0.0	.	119	Q8WWM9	CYGB_HUMAN	M	119	ENSP00000293230:V119M	ENSP00000293230:V119M	V	-	1	0	CYGB	72039157	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	7.502000	0.81614	2.598000	0.87819	0.462000	0.41574	GTG		0.642	CYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450590.1	NM_134268		16	38	16	38	---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54398817	54398817	+	Missense_Mutation	SNP	G	G	A	rs560600646		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr18:54398817G>A	ENST00000254442.3	+	14	2189	c.1978G>A	c.(1978-1980)Gca>Aca	p.A660T	WDR7_ENST00000357574.3_Missense_Mutation_p.A660T|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	660					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGCTTCTGAGGCATCTGACAA	0.393																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(1978-1980)Gca>Aca		WD repeat domain 7							114.0	98.0	103.0					18																	54398817		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54398817G>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1978G>A	18.37:g.54398817G>A	ENSP00000254442:p.Ala660Thr					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A660T	p.A660T	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	14	2189	+			660					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.1978G>A	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232115	0.39498	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.66638	-0.22;-0.22	5.26	4.36	0.52297	.	0.249082	0.41823	D	0.000803	T	0.45276	0.1334	N	0.08118	0	0.43103	D	0.994793	B;B	0.22414	0.069;0.044	B;B	0.21917	0.037;0.024	T	0.31447	-0.9943	10	0.21540	T	0.41	.	13.053	0.58964	0.0:0.0:0.7079:0.2921	.	660;660	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	T	660	ENSP00000254442:A660T;ENSP00000350187:A660T	ENSP00000254442:A660T	A	+	1	0	WDR7	52549815	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.952000	0.63618	1.148000	0.42385	0.563000	0.77884	GCA		0.393	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			4	67	4	67	---	---	---	---
MIEF1	54471	broad.mit.edu	37	22	39908032	39908032	+	Splice_Site	SNP	G	G	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr22:39908032G>C	ENST00000325301.2	+	4	746		c.e4+1		MIEF1_ENST00000404569.1_Splice_Site|MIEF1_ENST00000402881.1_Splice_Site	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1						mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)	p.?(1)									TTCGACACAGGTGAGAAGGGC	0.597																																						ENST00000325301.2																			1	Unknown(1)	p.?(1)	lung(1)								c.e4+1		mitochondrial elongation factor 1							58.0	65.0	63.0					22																	39908032		2203	4300	6503	SO:0001630	splice_region_variant	54471							g.chr22:39908032G>C	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.322+1G>C	22.37:g.39908032G>C						MIEF1_ENST00000404569.1_Splice_Site|MIEF1_ENST00000402881.1_Splice_Site		NM_019008.4	NP_061881.2					4	746	+								Q7L890|Q9BUI3	Splice_Site	SNP	ENST00000325301.2	37		CCDS13995.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505378	0.44558	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2227	0.98327	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMCR7L	38237978	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	9.465000	0.97660	2.778000	0.95560	0.650000	0.86243	.		0.597	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008	Intron	5	46	5	46	---	---	---	---
RPL5	6125	broad.mit.edu	37	1	93301888	93301890	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr1:93301888_93301890delGGC	ENST00000370321.3	+	5	556_558	c.466_468delGGC	c.(466-468)ggcdel	p.G156del	SNORD21_ENST00000383953.1_RNA|SNORA66_ENST00000515986.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	156					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AACTACCACTGGCAATAAAGTTT	0.493																																						ENST00000370321.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(466-468)ggcdel		ribosomal protein L5																																				SO:0001651	inframe_deletion	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93301888_93301890delGGC	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.466_468delGGC	1.37:g.93301888_93301890delGGC	ENSP00000359345:p.Gly156del						p.G156del	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	5	556_558	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	156					Q32LZ3|Q53HH6|Q9H3F4	In_Frame_Del	DEL	ENST00000370321.3	37	c.466_468delGGC	CCDS741.1																																																																																				0.493	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		14	114	14	114	---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98234109	98234112	+	Frame_Shift_Del	DEL	AACC	AACC	-	rs201680764		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:98234109_98234112delAACC	ENST00000284049.3	-	9	1362_1365	c.1213_1216delGGTT	c.(1213-1218)ggttatfs	p.GY405fs		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	405	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.G405V(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TAATCAGGATAACCAGCTGCTGAC	0.363																																						ENST00000284049.3																			1	Substitution - Missense(1)	p.G405V(1)	lung(1)	NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(1213-1218)ggttatfs		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)																																			SO:0001589	frameshift_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98234109_98234112delAACC	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1213_1216delGGTT	5.37:g.98234109_98234112delAACC	ENSP00000284049:p.Gly405fs						p.GY405fs	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	9	1362_1365	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	405			Chromo 2.		Q17RZ3	Frame_Shift_Del	DEL	ENST00000284049.3	37	c.1213_1216delGGTT	CCDS34204.1																																																																																				0.363	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		7	25	7	25	---	---	---	---
DDX5	1655	broad.mit.edu	37	17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.440_442delCTGT	c.(439-444)tctgta>tta	p.SV147fs	DDX5_ENST00000450599.2_Intron|DDX5_ENST00000578804.1_Splice_Site_p.SV147fs|CEP95_ENST00000556440.2_5'Flank|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000580026.1_5'Flank	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	147	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.(439-444)tctgta>tta		DEAD (Asp-Glu-Ala-Asp) box helicase 5																																				SO:0001630	splice_region_variant	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62500099_62500102delACAG	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.441+1CTGT>-	17.37:g.62500099_62500102delACAG						DDX5_ENST00000450599.2_Intron|DDX5_ENST00000578804.1_Splice_Site_p.SV147fs	p.SV147fs	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		4	841_843	-	Breast(5;2.15e-14)		147			Helicase ATP-binding.		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Splice_Site	DEL	ENST00000225792.5	37	c.440_442delCTGT	CCDS11659.1																																																																																				0.397	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396	Frame_Shift_Del	32	98	32	98	---	---	---	---
