#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
ETV3L	440695	broad.mit.edu	37	1	157067666	157067666	+	Missense_Mutation	SNP	C	C	T	rs202076672		TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr1:157067666C>T	ENST00000454449.2	-	4	885	c.601G>A	c.(601-603)Gtc>Atc	p.V201I		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	201					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.V201I(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				TCACGGTAGACGCTGCTGCTG	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17793	0.0		0.0	False		,,,				2504	0.0					ENST00000454449.2																			3	Substitution - Missense(3)	p.V201I(3)	prostate(2)|endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(601-603)Gtc>Atc		ets variant 3-like		C	ILE/VAL	0,4406		0,0,2203	104.0	106.0	105.0		601	-4.1	0.0	1		105	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ETV3L	NM_001004341.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	201/362	157067666	2,13004	2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157067666C>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.601G>A	1.37:g.157067666C>T	ENSP00000430271:p.Val201Ile						p.V201I	NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN			4	885	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	201						Missense_Mutation	SNP	ENST00000454449.2	37	c.601G>A	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.576990	0.00887	0.0	2.33E-4	ENSG00000253831	ENST00000454449	T	0.08896	3.04	3.16	-4.05	0.03998	.	.	.	.	.	T	0.00875	0.0029	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48269	-0.9050	9	0.09590	T	0.72	.	5.5942	0.17317	0.0:0.5051:0.1466:0.3483	.	201	Q6ZN32	ETV3L_HUMAN	I	201	ENSP00000430271:V201I	ENSP00000430271:V201I	V	-	1	0	ETV3L	155334290	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-1.754000	0.01816	-0.971000	0.03564	-1.528000	0.00924	GTC		0.632	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		25	202	25	202	---	---	---	---
INTS7	25896	broad.mit.edu	37	1	212118153	212118153	+	Silent	SNP	C	C	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr1:212118153C>T	ENST00000366994.3	-	19	2678	c.2574G>A	c.(2572-2574)ctG>ctA	p.L858L	INTS7_ENST00000366993.3_Silent_p.L844L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Silent_p.L838L|INTS7_ENST00000440600.2_Silent_p.L809L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	858					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)		p.L858L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ATTTACTCTGCAGTGTGGAAG	0.423																																						ENST00000366994.3																			1	Substitution - coding silent(1)	p.L858L(1)	prostate(1)	NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2572-2574)ctG>ctA		integrator complex subunit 7							176.0	174.0	175.0					1																	212118153		2203	4300	6503	SO:0001819	synonymous_variant	25896				snRNA processing	integrator complex	protein binding	g.chr1:212118153C>T	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2574G>A	1.37:g.212118153C>T						INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Silent_p.L838L|INTS7_ENST00000440600.2_Silent_p.L809L|INTS7_ENST00000366993.3_Silent_p.L844L	p.L858L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	19	2678	-			858					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	ENST00000366994.3	37	c.2574G>A	CCDS1501.1																																																																																				0.423	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		24	160	24	160	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146824230	146824230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr4:146824230G>A	ENST00000508784.1	-	2	408	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.Q61*			Q17R98	ZN827_HUMAN	zinc finger protein 827	61					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q61*(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GACTGCTCCTGGATCCGGTCC	0.567																																						ENST00000508784.1																			2	Substitution - Nonsense(2)	p.Q61*(2)	prostate(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(181-183)Cag>Tag		zinc finger protein 827							83.0	78.0	80.0					4																	146824230		2203	4300	6503	SO:0001587	stop_gained	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146824230G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.181C>T	4.37:g.146824230G>A	ENSP00000421863:p.Gln61*					ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.Q61*	p.Q61*			Q17R98	ZN827_HUMAN			2	408	-	all_hematologic(180;0.151)		61					B7ZL52|Q7Z4S7|Q8N279	Nonsense_Mutation	SNP	ENST00000508784.1	37	c.181C>T		.	.	.	.	.	.	.	.	.	.	G	38	7.196094	0.98129	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	.	.	.	5.93	5.93	0.95920	.	0.284088	0.41938	D	0.000787	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-8.5678	20.3437	0.98782	0.0:0.0:1.0:0.0	.	.	.	.	X	61;61;60	.	ENSP00000281318:Q60X	Q	-	1	0	ZNF827	147043680	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.184000	0.94893	2.815000	0.96918	0.561000	0.74099	CAG		0.567	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		14	79	14	79	---	---	---	---
EEF1E1	9521	broad.mit.edu	37	6	8097597	8097597	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr6:8097597G>A	ENST00000379715.5	-	2	247	c.191C>T	c.(190-192)aCt>aTt	p.T64I	EEF1E1_ENST00000429723.2_Missense_Mutation_p.T64I|EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.T64I|EEF1E1_ENST00000507463.1_Missense_Mutation_p.T64I	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	64	C-terminal.|GST C-terminal.				gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.T64I(1)		endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					TTCTTCTGCAGTACTCCCCAG	0.428																																						ENST00000379715.5																			1	Substitution - Missense(1)	p.T64I(1)	prostate(1)	endometrium(1)|prostate(1)	2						c.(190-192)aCt>aTt		eukaryotic translation elongation factor 1 epsilon 1							205.0	186.0	192.0					6																	8097597		2203	4300	6503	SO:0001583	missense	9521				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus		g.chr6:8097597G>A	AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"""aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"""	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.191C>T	6.37:g.8097597G>A	ENSP00000369038:p.Thr64Ile					EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.T64I|EEF1E1_ENST00000429723.2_Missense_Mutation_p.T64I|EEF1E1_ENST00000507463.1_Missense_Mutation_p.T64I	p.T64I	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN			2	247	-	Ovarian(93;0.0398)		64			GST C-terminal.		C9JLK5|Q5THS2	Missense_Mutation	SNP	ENST00000379715.5	37	c.191C>T	CCDS4507.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945224	0.73672	.	.	ENSG00000124802	ENST00000429723;ENST00000379715;ENST00000507463;ENST00000488226	T;T;T	0.14516	3.16;3.16;2.5	5.62	4.73	0.59995	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);Thioredoxin-like fold (1);	0.279774	0.41938	D	0.000790	T	0.08179	0.0204	L	0.59436	1.845	0.26349	N	0.977235	P;P	0.49635	0.926;0.772	B;B	0.41036	0.346;0.143	T	0.05321	-1.0892	9	.	.	.	-10.1686	16.3269	0.82986	0.0:0.1323:0.8676:0.0	.	64;64	C9JLK5;O43324	.;MCA3_HUMAN	I	64;64;64;76	ENSP00000414363:T64I;ENSP00000369038:T64I;ENSP00000425577:T76I	.	T	-	2	0	EEF1E1	8042596	0.815000	0.29118	0.445000	0.26908	0.994000	0.84299	2.809000	0.47971	1.324000	0.45282	0.655000	0.94253	ACT		0.428	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039799.2	NM_004280		18	162	18	162	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55142195	55142195	+	Silent	SNP	T	T	C			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr6:55142195T>C	ENST00000370862.3	+	5	1116	c.780T>C	c.(778-780)tcT>tcC	p.S260S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	260					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAACATCATCTGTAGTTCAGA	0.483																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(778-780)tcT>tcC		hypocretin (orexin) receptor 2							48.0	54.0	52.0					6																	55142195		2203	4300	6503	SO:0001819	synonymous_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55142195T>C	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.780T>C	6.37:g.55142195T>C							p.S260S	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	1116	+	Lung NSC(77;0.107)|Renal(3;0.122)		260					Q5VTM0	Silent	SNP	ENST00000370862.3	37	c.780T>C	CCDS4956.1																																																																																				0.483	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			9	75	9	75	---	---	---	---
FNTA	2339	broad.mit.edu	37	8	42914260	42914260	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr8:42914260G>T	ENST00000302279.3	+	2	420	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	FNTA_ENST00000524546.1_3'UTR|FNTA_ENST00000342116.4_Intron|FNTA_ENST00000529687.1_5'UTR|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.D33Y	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	76					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GGCTGATATAGATCCGGTGCC	0.398																																						ENST00000302279.3																			0				cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(226-228)Gat>Tat		farnesyltransferase, CAAX box, alpha							78.0	74.0	75.0					8																	42914260		2203	4300	6503	SO:0001583	missense	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42914260G>T	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.226G>T	8.37:g.42914260G>T	ENSP00000303423:p.Asp76Tyr					FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000342116.4_Intron|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.D33Y|FNTA_ENST00000524546.1_3'UTR	p.D76Y	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		2	420	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	76					A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.226G>T	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688134	0.48097	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000531266;ENST00000533336	.	.	.	5.13	5.13	0.70059	Protein prenyltransferase (1);	0.284457	0.43260	D	0.000583	T	0.35537	0.0935	N	0.24115	0.695	0.80722	D	1	B	0.28998	0.23	B	0.17979	0.02	T	0.29912	-0.9996	9	0.62326	D	0.03	-15.4757	9.7337	0.40376	0.0944:0.0:0.9056:0.0	.	76	P49354	FNTA_HUMAN	Y	33;76;58;14	.	ENSP00000303423:D76Y	D	+	1	0	FNTA;RP11-598P20.5	43033417	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.538000	0.60650	2.400000	0.81607	0.644000	0.83932	GAT		0.398	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		4	53	4	53	---	---	---	---
IL7	3574	broad.mit.edu	37	8	79645969	79645969	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr8:79645969C>G	ENST00000263851.4	-	6	1113	c.513G>C	c.(511-513)ttG>ttC	p.L171F	IL7_ENST00000520269.1_Missense_Mutation_p.L127F|IL7_ENST00000541183.1_Missense_Mutation_p.L58F|IL7_ENST00000519833.1_Intron	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	171					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)			endometrium(2)|large_intestine(2)|lung(1)	5						TAGTGCCCATCAAAATTTTAT	0.323																																						ENST00000263851.4																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(511-513)ttG>ttC		interleukin 7							124.0	126.0	126.0					8																	79645969		2203	4299	6502	SO:0001583	missense	3574				bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding	g.chr8:79645969C>G	J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"""Interleukins and interleukin receptors"""	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.513G>C	8.37:g.79645969C>G	ENSP00000263851:p.Leu171Phe					IL7_ENST00000520269.1_Missense_Mutation_p.L127F|IL7_ENST00000519833.1_Intron|IL7_ENST00000541183.1_Missense_Mutation_p.L58F	p.L171F	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN			6	1113	-			171					A0N0L3|Q5FBY5|Q5FBY9	Missense_Mutation	SNP	ENST00000263851.4	37	c.513G>C	CCDS6224.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572997	0.65765	.	.	ENSG00000104432	ENST00000263851;ENST00000520269;ENST00000379114;ENST00000541183	T;T;T	0.56444	0.46;0.46;0.46	5.0	4.09	0.47781	.	0.168359	0.28940	N	0.013644	T	0.42944	0.1225	L	0.34521	1.04	0.80722	D	1	B;P	0.41008	0.439;0.735	B;B	0.42593	0.312;0.392	T	0.23868	-1.0176	9	.	.	.	.	10.6357	0.45563	0.1914:0.8086:0.0:0.0	.	171;127	P13232;Q5FBY9	IL7_HUMAN;.	F	171;127;124;58	ENSP00000263851:L171F;ENSP00000427750:L127F;ENSP00000438922:L58F	.	L	-	3	2	IL7	79808524	0.998000	0.40836	0.985000	0.45067	0.940000	0.58332	1.810000	0.38932	1.407000	0.46875	0.655000	0.94253	TTG		0.323	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379429.1			15	103	15	103	---	---	---	---
BAI1	575	broad.mit.edu	37	8	143558817	143558817	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr8:143558817C>T	ENST00000517894.1	+	6	2188	c.1294C>T	c.(1294-1296)Cgc>Tgc	p.R432C	BAI1_ENST00000323289.5_Missense_Mutation_p.R432C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	432	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTTTCGGGATCGCACGCGCAC	0.652																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(1294-1296)Cgc>Tgc		brain-specific angiogenesis inhibitor 1							49.0	59.0	56.0					8																	143558817		2118	4217	6335	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143558817C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1294C>T	8.37:g.143558817C>T	ENSP00000430945:p.Arg432Cys					BAI1_ENST00000323289.5_Missense_Mutation_p.R432C	p.R432C			O14514	BAI1_HUMAN			6	2188	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		432			TSP type-1 3.			Missense_Mutation	SNP	ENST00000517894.1	37	c.1294C>T		.	.	.	.	.	.	.	.	.	.	C	20.7	4.030349	0.75504	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.80909	-1.43;-1.43	4.18	3.28	0.37604	.	0.000000	0.64402	U	0.000002	D	0.92570	0.7640	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92051	0.5648	10	0.87932	D	0	.	8.6228	0.33870	0.173:0.6597:0.1672:0.0	.	432	E9PBK0	.	C	432	ENSP00000430945:R432C;ENSP00000313046:R432C	ENSP00000313046:R432C	R	+	1	0	BAI1	143555819	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	3.752000	0.55172	0.826000	0.34661	0.491000	0.48974	CGC		0.652	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		6	119	6	119	---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1081737	1081737	+	Silent	SNP	C	C	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:1081737C>T	ENST00000441003.2	+	13	1692	c.1665C>T	c.(1663-1665)aaC>aaT	p.N555N	MUC2_ENST00000359061.5_Silent_p.N555N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	555	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.N555N(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCTTTGCCAACACCTGGAAGG	0.652																																						ENST00000441003.2																			2	Substitution - coding silent(2)	p.N555N(2)	prostate(2)	NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(1663-1665)aaC>aaT		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						32.0	37.0	35.0					11																	1081737		2028	4176	6204	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1081737C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1665C>T	11.37:g.1081737C>T						MUC2_ENST00000359061.5_Silent_p.N555N	p.N555N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1692	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	555			VWFD 2.		Q14878	Silent	SNP	ENST00000441003.2	37	c.1665C>T																																																																																					0.652	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		13	57	13	57	---	---	---	---
SLC1A2	6506	broad.mit.edu	37	11	35313864	35313864	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:35313864G>A	ENST00000278379.3	-	7	1343	c.1061C>T	c.(1060-1062)gCt>gTt	p.A354V	SLC1A2_ENST00000606205.1_Missense_Mutation_p.A354V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A345V|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A345V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	354					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			AGTGATCCAAGCTTGGAAAAT	0.463																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	ENST00000278379.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(1060-1062)gCt>gTt		solute carrier family 1 (glial high affinity glutamate transporter), member 2	L-Glutamic Acid(DB00142)						188.0	196.0	194.0					11																	35313864		2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35313864G>A	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1061C>T	11.37:g.35313864G>A	ENSP00000278379:p.Ala354Val					SLC1A2_ENST00000606205.1_Missense_Mutation_p.A354V|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A345V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A345V	p.A354V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		7	1343	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	354					B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.1061C>T	CCDS31459.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	30|30	5.055831|5.055831	0.93793|0.93793	.|.	.|.	ENSG00000110436|ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753|ENST00000531628	T;T;T|.	0.61859|.	0.07;0.07;0.07|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73976|0.73976	0.3656|0.3656	M|M	0.64630|0.64630	1.985|1.985	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.91635|.	0.951;0.999|.	T|T	0.72060|0.72060	-0.4404|-0.4404	10|5	0.52906|.	T|.	0.07|.	-12.1046|-12.1046	19.1903|19.1903	0.93663|0.93663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	354;354|.	B4DQE9;P43004|.	.;EAA2_HUMAN|.	V|F	354;345;345|72	ENSP00000278379:A354V;ENSP00000379099:A345V;ENSP00000379102:A345V|.	ENSP00000278379:A354V|.	A|L	-|-	2|1	0|0	SLC1A2|SLC1A2	35270440|35270440	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	9.869000|9.869000	0.99810|0.99810	2.526000|2.526000	0.85167|0.85167	0.655000|0.655000	0.94253|0.94253	GCT|CTT		0.463	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		19	419	19	419	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55418689	55418689	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:55418689T>A	ENST00000312422.2	+	1	310	c.310T>A	c.(310-312)Ttc>Atc	p.F104I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGGAGTACATTTCTTTGGTTG	0.428																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(310-312)Ttc>Atc		olfactory receptor, family 4, subfamily S, member 2							220.0	184.0	197.0					11																	55418689		2185	4040	6225	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418689T>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.310T>A	11.37:g.55418689T>A	ENSP00000310337:p.Phe104Ile						p.F104I	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	310	+		all_epithelial(135;0.0748)	104					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.310T>A	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.845418	0.51164	.	.	ENSG00000174982	ENST00000312422	T	0.01335	5.0	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.02047	0.0064	L	0.47716	1.5	0.34142	D	0.666466	B	0.29766	0.256	B	0.21546	0.035	T	0.41124	-0.9526	10	0.52906	T	0.07	.	14.1779	0.65555	0.0:0.0:0.0:1.0	.	104	Q8NH73	OR4S2_HUMAN	I	104	ENSP00000310337:F104I	ENSP00000310337:F104I	F	+	1	0	OR4S2	55175265	0.000000	0.05858	0.999000	0.59377	0.995000	0.86356	-0.011000	0.12721	2.031000	0.59945	0.448000	0.29417	TTC		0.428	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		19	288	19	288	---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128868319	128868319	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:128868319T>C	ENST00000310343.9	-	11	1047	c.1048A>G	c.(1048-1050)Atg>Gtg	p.M350V	ARHGAP32_ENST00000392657.3_Start_Codon_SNP_p.M1V|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.M276V|ARHGAP32_ENST00000527272.1_Start_Codon_SNP_p.M1V	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	350					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.M1V(2)|p.M350V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CGAGACTTCATGAATGTTCGT	0.403																																						ENST00000310343.9																			3	Substitution - Missense(3)	p.M1V(2)|p.M350V(1)	prostate(3)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(1048-1050)Atg>Gtg		Rho GTPase activating protein 32							124.0	112.0	116.0					11																	128868319		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128868319T>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.1048A>G	11.37:g.128868319T>C	ENSP00000310561:p.Met350Val					ARHGAP32_ENST00000392657.3_Start_Codon_SNP_p.M1V|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.M276V|ARHGAP32_ENST00000527272.1_Start_Codon_SNP_p.M1V	p.M350V	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			11	1047	-			350					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.1048A>G	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624657	0.66901	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272;ENST00000356092	T;T;T;T	0.15139	3.02;2.45;3.01;2.45	6.11	6.11	0.99139	.	0.112591	0.85682	D	0.000000	T	0.27731	0.0682	M	0.72894	2.215	0.80722	D	1	B;B;B	0.25521	0.128;0.014;0.002	B;B;B	0.32465	0.146;0.009;0.003	T	0.02813	-1.1107	10	0.72032	D	0.01	.	16.3756	0.83387	0.0:0.0:0.0:1.0	.	284;350;168	Q86T64;A7KAX9;Q86UT2	.;RHG32_HUMAN;.	V	350;1;276;284;1;60	ENSP00000310561:M350V;ENSP00000376425:M1V;ENSP00000432468:M276V;ENSP00000432862:M1V	ENSP00000310561:M350V	M	-	1	0	ARHGAP32	128373529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.481000	0.81124	2.343000	0.79666	0.533000	0.62120	ATG		0.403	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		19	128	19	128	---	---	---	---
ASUN	55726	broad.mit.edu	37	12	27081791	27081791	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:27081791A>C	ENST00000261191.7	-	4	884	c.348T>G	c.(346-348)gaT>gaG	p.D116E	ASUN_ENST00000539625.1_Missense_Mutation_p.D15E	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	116					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGCACTCTGGATCTGCCCGAG	0.448																																						ENST00000261191.7																			0											c.(346-348)gaT>gaG		asunder spermatogenesis regulator							66.0	62.0	63.0					12																	27081791		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27081791A>C	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.348T>G	12.37:g.27081791A>C	ENSP00000261191:p.Asp116Glu					ASUN_ENST00000539625.1_Missense_Mutation_p.D15E	p.D116E	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN			4	884	-			116					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.348T>G	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.876778	0.33162	.	.	ENSG00000064102	ENST00000261191;ENST00000539625;ENST00000538727;ENST00000544548;ENST00000537336	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.16	-2.73	0.05950	.	0.052015	0.85682	D	0.000000	T	0.48537	0.1505	L	0.47716	1.5	0.47183	D	0.999343	D	0.63046	0.992	D	0.76071	0.987	T	0.46442	-0.9191	10	0.17369	T	0.5	-23.8794	12.8426	0.57811	0.4484:0.0:0.5516:0.0	.	116	Q9NVM9	M89BB_HUMAN	E	116;15;15;116;116	ENSP00000261191:D116E;ENSP00000443724:D15E;ENSP00000448467:D15E;ENSP00000446183:D116E;ENSP00000443066:D116E	ENSP00000261191:D116E	D	-	3	2	C12orf11	26973058	0.994000	0.37717	0.990000	0.47175	0.998000	0.95712	0.342000	0.19926	-0.429000	0.07329	0.482000	0.46254	GAT		0.448	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		4	74	4	74	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49430959	49430959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:49430959G>A	ENST00000301067.7	-	34	10179	c.10180C>T	c.(10180-10182)Cag>Tag	p.Q3394*	KMT2D_ENST00000549743.1_5'UTR	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3394	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3394*(1)|p.Q3124*(1)									GCCAATTGCTGCGGCTTCATG	0.537																																						ENST00000301067.7																			2	Substitution - Nonsense(2)	p.Q3394*(1)|p.Q3124*(1)	prostate(2)								c.(10180-10182)Cag>Tag		lysine (K)-specific methyltransferase 2D							50.0	50.0	50.0					12																	49430959		2097	4238	6335	SO:0001587	stop_gained	8085							g.chr12:49430959G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10180C>T	12.37:g.49430959G>A	ENSP00000301067:p.Gln3394*					KMT2D_ENST00000549743.1_5'UTR	p.Q3394*	NM_003482.3	NP_003473.3					34	10179	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.10180C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	51	17.761323	0.99892	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.47	5.47	0.80525	.	0.000000	0.36338	N	0.002643	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4919	0.90851	0.0:0.0:1.0:0.0	.	.	.	.	X	3394	.	ENSP00000301067:Q3394X	Q	-	1	0	MLL2	47717226	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	6.573000	0.74009	2.758000	0.94735	0.561000	0.74099	CAG		0.537	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			8	39	8	39	---	---	---	---
CSAD	51380	broad.mit.edu	37	12	53567192	53567192	+	Silent	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:53567192G>A	ENST00000444623.1	-	4	330	c.63C>T	c.(61-63)ctC>ctT	p.L21L	CSAD_ENST00000379846.1_Silent_p.L21L|CSAD_ENST00000267085.4_Silent_p.L48L|CSAD_ENST00000379843.3_Silent_p.L21L|CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000453446.2_Silent_p.L21L|CSAD_ENST00000542115.1_Silent_p.L21L	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	21					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	ACACGGCCCGGAGCAAGGCTT	0.562																																					Ovarian(109;252 1546 16882 28524 44645)	ENST00000267085.4																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14						c.(142-144)ctC>ctT		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						85.0	77.0	80.0					12																	53567192		2203	4300	6503	SO:0001819	synonymous_variant	51380				carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53567192G>A	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.63C>T	12.37:g.53567192G>A						CSAD_ENST00000379846.1_Silent_p.L21L|CSAD_ENST00000379843.3_Silent_p.L21L|CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000542115.1_Silent_p.L21L|CSAD_ENST00000453446.2_Silent_p.L21L|CSAD_ENST00000444623.1_Silent_p.L21L	p.L48L	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN			4	377	-			21					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Silent	SNP	ENST00000444623.1	37	c.144C>T	CCDS58235.1	.	.	.	.	.	.	.	.	.	.	G	4.202	0.036278	0.08148	.	.	ENSG00000139631	ENST00000379850	.	.	.	5.08	-0.932	0.10435	.	.	.	.	.	T	0.39759	0.1090	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.26744	-1.0094	4	.	.	.	-22.5299	1.0614	0.01601	0.3938:0.1503:0.3022:0.1537	.	.	.	.	S	47	.	.	P	-	1	0	CSAD	51853459	0.547000	0.26465	0.379000	0.26080	0.429000	0.31625	-0.051000	0.11885	-0.059000	0.13154	0.655000	0.94253	CCG		0.562	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		11	104	11	104	---	---	---	---
SSH1	54434	broad.mit.edu	37	12	109181845	109181845	+	Missense_Mutation	SNP	C	C	G	rs146644569		TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:109181845C>G	ENST00000326495.5	-	15	3162	c.3069G>C	c.(3067-3069)agG>agC	p.R1023S	SSH1_ENST00000360239.3_Missense_Mutation_p.R711S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1023	Interaction with YWHAG.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R1023S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGCTGGGTCCCTCGGGGTTC	0.572																																						ENST00000326495.5																			1	Substitution - Missense(1)	p.R1023S(1)	prostate(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(3067-3069)agG>agC		slingshot protein phosphatase 1							101.0	107.0	105.0					12																	109181845		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109181845C>G	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.3069G>C	12.37:g.109181845C>G	ENSP00000315713:p.Arg1023Ser					SSH1_ENST00000360239.3_Missense_Mutation_p.R711S	p.R1023S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			15	3162	-			1023			Interaction with YWHAG.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.3069G>C	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266234	0.40095	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.12255	2.85;2.7	5.27	0.469	0.16741	.	1.004300	0.08021	N	0.991885	T	0.13543	0.0328	L	0.60455	1.87	0.09310	N	1	B;B	0.29988	0.013;0.264	B;B	0.21151	0.009;0.033	T	0.26538	-1.0100	10	0.42905	T	0.14	-11.8243	8.1452	0.31108	0.0:0.3344:0.4955:0.1701	.	1023;711	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	S	711;1023	ENSP00000353374:R711S;ENSP00000315713:R1023S	ENSP00000315713:R1023S	R	-	3	2	SSH1	107705974	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	0.058000	0.14301	0.192000	0.20272	0.650000	0.86243	AGG		0.572	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		28	187	28	187	---	---	---	---
CLN5	1203	broad.mit.edu	37	13	77570129	77570129	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr13:77570129T>G	ENST00000377453.3	+	3	1871	c.579T>G	c.(577-579)tgT>tgG	p.C193W	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	144			N -> K (in CLN5). {ECO:0000269|PubMed:21990111}.		brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTGGCAACTGTACATTTCCCC	0.418																																						ENST00000377453.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16						c.(577-579)tgT>tgG		ceroid-lipofuscinosis, neuronal 5							202.0	176.0	185.0					13																	77570129		2203	4300	6503	SO:0001583	missense	1203				brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr13:77570129T>G		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.579T>G	13.37:g.77570129T>G	ENSP00000366673:p.Cys193Trp					CLN5_ENST00000485938.1_3'UTR	p.C193W	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN		GBM - Glioblastoma multiforme(99;0.0503)	3	1871	+		Acute lymphoblastic leukemia(28;0.205)	144					B3KQK7	Missense_Mutation	SNP	ENST00000377453.3	37	c.579T>G	CCDS9456.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848904	0.71603	.	.	ENSG00000102805	ENST00000377453;ENST00000541907;ENST00000535238	D	0.91351	-2.83	5.54	0.984	0.19773	.	0.000000	0.85682	D	0.000000	D	0.93536	0.7937	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91675	0.5353	10	0.72032	D	0.01	-22.6147	9.1361	0.36875	0.0:0.5106:0.0:0.4894	.	144	O75503	CLN5_HUMAN	W	193;144;59	ENSP00000366673:C193W	ENSP00000366673:C193W	C	+	3	2	CLN5	76468130	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.352000	0.34033	0.082000	0.17018	-0.376000	0.06991	TGT		0.418	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		8	195	8	195	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9858034	9858034	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr16:9858034C>A	ENST00000396573.2	-	14	3676	c.3367G>T	c.(3367-3369)Gag>Tag	p.E1123*	GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.E966*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.E1123*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1123					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.E1123*(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGCTCCTTCTCACCATCTATA	0.522																																						ENST00000396573.2																			1	Substitution - Nonsense(1)	p.E1123*(1)	prostate(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3367-3369)Gag>Tag		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						131.0	130.0	130.0					16																	9858034		2197	4300	6497	SO:0001587	stop_gained	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858034C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3367G>T	16.37:g.9858034C>A	ENSP00000379818:p.Glu1123*					GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.E966*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.E1123*	p.E1123*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3676	-			1123					O00669|Q17RZ6	Nonsense_Mutation	SNP	ENST00000396573.2	37	c.3367G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	38	7.249857	0.98164	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	.	.	.	5.42	5.42	0.78866	.	0.144877	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2268	0.89920	0.0:1.0:0.0:0.0	.	.	.	.	X	1123;1123;966;1123;1123	.	.	E	-	1	0	GRIN2A	9765535	1.000000	0.71417	0.952000	0.39060	0.433000	0.31745	7.395000	0.79876	2.543000	0.85770	0.650000	0.86243	GAG		0.522	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			18	286	18	286	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20554289	20554289	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr16:20554289G>A	ENST00000329697.6	-	12	1624	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000565322.1_Missense_Mutation_p.P407S|ACSM2B_ENST00000567001.1_Missense_Mutation_p.P486S|ACSM2B_ENST00000565232.1_Missense_Mutation_p.P486S	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	486					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.P486S(2)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ACCACAGCAGGGTGCTTCATC	0.562																																						ENST00000329697.6																			2	Substitution - Missense(2)	p.P486S(2)	prostate(1)|central_nervous_system(1)	breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1456-1458)Cct>Tct		acyl-CoA synthetase medium-chain family member 2B							131.0	124.0	126.0					16																	20554289		2201	4299	6500	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554289G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1456C>T	16.37:g.20554289G>A	ENSP00000327453:p.Pro486Ser					ACSM2B_ENST00000567001.1_Missense_Mutation_p.P486S|ACSM2B_ENST00000565232.1_Missense_Mutation_p.P486S|ACSM2B_ENST00000565322.1_Missense_Mutation_p.P407S	p.P486S	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			12	1624	-			486					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1456C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558426	0.65538	.	.	ENSG00000066813	ENST00000329697	T	0.65732	-0.17	3.1	3.1	0.35709	AMP-dependent synthetase/ligase (1);	0.168493	0.28834	N	0.013983	T	0.75384	0.3842	M	0.73962	2.25	0.80722	D	1	P;D	0.53745	0.931;0.962	P;P	0.61477	0.889;0.889	T	0.80446	-0.1379	10	0.87932	D	0	-5.1114	14.3347	0.66581	0.0:0.0:1.0:0.0	.	486;486	A8K051;Q68CK6	.;ACS2B_HUMAN	S	486	ENSP00000327453:P486S	ENSP00000327453:P486S	P	-	1	0	ACSM2B	20461790	1.000000	0.71417	0.962000	0.40283	0.602000	0.36980	4.215000	0.58534	1.743000	0.51761	0.508000	0.49915	CCT		0.562	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		13	124	13	124	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7752710	7752710	+	Missense_Mutation	SNP	G	G	T	rs568630770		TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:7752710G>T	ENST00000448097.2	+	11	3435	c.3104G>T	c.(3103-3105)cGg>cTg	p.R1035L	KDM6B_ENST00000254846.5_Missense_Mutation_p.R1035L			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1035					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAGAAGTCCCGGCCCGATCTT	0.662																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(3103-3105)cGg>cTg		lysine (K)-specific demethylase 6B							14.0	13.0	13.0					17																	7752710		2183	4272	6455	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752710G>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3104G>T	17.37:g.7752710G>T	ENSP00000412513:p.Arg1035Leu					KDM6B_ENST00000448097.2_Missense_Mutation_p.R1035L	p.R1035L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	3493	+			1035					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.3104G>T		.	.	.	.	.	.	.	.	.	.	G	6.846	0.525325	0.13066	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.34275	1.37;1.38	3.67	2.7	0.31948	.	0.427722	0.17006	N	0.190711	T	0.20780	0.0500	N	0.14661	0.345	0.34479	D	0.703711	P;P	0.48764	0.915;0.901	B;P	0.45276	0.283;0.475	T	0.12293	-1.0553	10	0.32370	T	0.25	-7.9009	5.0674	0.14589	0.2402:0.0:0.7598:0.0	.	1035;1035	O15054;O15054-1	KDM6B_HUMAN;.	L	1035	ENSP00000254846:R1035L;ENSP00000412513:R1035L	ENSP00000254846:R1035L	R	+	2	0	KDM6B	7693435	0.951000	0.32395	0.998000	0.56505	0.487000	0.33371	2.537000	0.45702	2.074000	0.62210	0.462000	0.41574	CGG		0.662	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		3	36	3	36	---	---	---	---
BLMH	642	broad.mit.edu	37	17	28616489	28616489	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:28616489T>C	ENST00000261714.6	-	3	397	c.223A>G	c.(223-225)Atc>Gtc	p.I75V	BLMH_ENST00000394819.3_Intron|RNU6-1267P_ENST00000410747.1_RNA	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	75					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.I75V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	CAAGAAAAGATCCAGCATCGC	0.383																																					Pancreas(127;628 1772 12912 33293 36203)	ENST00000261714.6																			1	Substitution - Missense(1)	p.I75V(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						c.(223-225)Atc>Gtc		bleomycin hydrolase							56.0	54.0	54.0					17																	28616489		2203	4300	6503	SO:0001583	missense	642				proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	g.chr17:28616489T>C	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.223A>G	17.37:g.28616489T>C	ENSP00000261714:p.Ile75Val					BLMH_ENST00000394819.3_Intron	p.I75V	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN			3	397	-			75					B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	ENST00000261714.6	37	c.223A>G	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.658745	0.88154	.	.	ENSG00000108578	ENST00000261714	T	0.46063	0.88	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	M	0.87038	2.855	0.80722	D	1	P	0.43392	0.805	P	0.55455	0.776	T	0.71384	-0.4609	10	0.72032	D	0.01	-16.2345	14.897	0.70651	0.0:0.0:0.0:1.0	.	75	Q13867	BLMH_HUMAN	V	75	ENSP00000261714:I75V	ENSP00000261714:I75V	I	-	1	0	BLMH	25640615	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.250000	0.78287	2.100000	0.63781	0.528000	0.53228	ATC		0.383	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386		7	48	7	48	---	---	---	---
CCL7	6354	broad.mit.edu	37	17	32597376	32597376	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:32597376G>A	ENST00000378569.2	+	1	137	c.67G>A	c.(67-69)Gct>Act	p.A23T	CCL7_ENST00000394630.3_Missense_Mutation_p.A23T|CCL7_ENST00000200307.4_Missense_Mutation_p.A33T|CCL7_ENST00000394627.1_Missense_Mutation_p.A23T	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	23					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to ethanol (GO:0071361)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|positive regulation of cell migration (GO:0030335)|positive regulation of natural killer cell chemotaxis (GO:2000503)|regulation of cell shape (GO:0008360)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCAGGGGCTTGCTCAGCCAGG	0.557																																						ENST00000378569.2																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(67-69)Gct>Act		chemokine (C-C motif) ligand 7							74.0	66.0	69.0					17																	32597376		2203	4300	6503	SO:0001583	missense	6354				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr17:32597376G>A	AF043338	CCDS11278.1	17q11.2-q12	2013-02-25	2002-08-22	2002-08-23	ENSG00000108688	ENSG00000108688		"""Chemokine ligands"", ""Endogenous ligands"""	10634	protein-coding gene	gene with protein product	"""monocyte chemoattractant protein 3"", ""monocyte chemotactic protein 3"""	158106	"""small inducible cytokine A7 (monocyte chemotactic protein 3)"""	SCYA6, SCYA7		8461011	Standard	NM_006273		Approved	MCP-3, NC28, FIC, MARC, MCP3	uc002hhz.4	P80098	OTTHUMG00000132889	ENST00000378569.2:c.67G>A	17.37:g.32597376G>A	ENSP00000367832:p.Ala23Thr					CCL7_ENST00000394627.1_Missense_Mutation_p.A23T|CCL7_ENST00000394630.3_Missense_Mutation_p.A23T|CCL7_ENST00000200307.4_Missense_Mutation_p.A33T	p.A23T	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	1	137	+	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)	23					Q569J6	Missense_Mutation	SNP	ENST00000378569.2	37	c.67G>A	CCDS11278.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281378	0.23392	.	.	ENSG00000108688	ENST00000378569;ENST00000200307;ENST00000394630;ENST00000394627	.	.	.	4.28	1.14	0.20703	Chemokine interleukin-8-like domain (1);	0.156231	0.29956	N	0.010773	T	0.28200	0.0696	.	.	.	0.26397	N	0.976487	P	0.50156	0.932	P	0.45037	0.467	T	0.12400	-1.0549	8	0.48119	T	0.1	.	4.713	0.12882	0.1989:0.1776:0.6235:0.0	.	23	P80098	CCL7_HUMAN	T	33;23;33;33	.	ENSP00000200307:A23T	A	+	1	0	CCL7	29621489	0.004000	0.15560	0.581000	0.28614	0.142000	0.21351	0.455000	0.21843	0.184000	0.20083	0.650000	0.86243	GCT		0.557	CCL7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256386.2	NM_006273		9	85	9	85	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:47696432A>G	ENST00000393328.2	-	6	756	c.391T>C	c.(391-393)Tgg>Cgg	p.W131R	SPOP_ENST00000393331.3_Missense_Mutation_p.W131R|SPOP_ENST00000347630.2_Missense_Mutation_p.W131R|SPOP_ENST00000504102.1_Missense_Mutation_p.W131R|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.W131R	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Cgg		speckle-type POZ protein							121.0	124.0	123.0					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>C	17.37:g.47696432A>G	ENSP00000377001:p.Trp131Arg	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.W131R|SPOP_ENST00000393328.2_Missense_Mutation_p.W131R|SPOP_ENST00000347630.2_Missense_Mutation_p.W131R|SPOP_ENST00000504102.1_Missense_Mutation_p.W131R	p.W131R	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.899719	0.72754	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.76407	0.3983	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76321	-0.3002	10	0.45353	T	0.12	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	R	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131R;ENSP00000377004:W131R;ENSP00000240327:W131R;ENSP00000425905:W131R;ENSP00000420908:W131R;ENSP00000426986:W131R;ENSP00000420960:W131R;ENSP00000426262:W131R;ENSP00000424119:W131R	ENSP00000240327:W131R	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		25	212	25	212	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55341560	55341560	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr19:55341560G>A	ENST00000391728.4	+	9	1198	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N	KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D372N|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D294N|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D389N|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D372N	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	389					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.D389N(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCAGGACTCTGATGAACAAGA	0.527																																						ENST00000391728.4																			1	Substitution - Missense(1)	p.D389N(1)	prostate(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1165-1167)Gat>Aat		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							224.0	208.0	213.0					19																	55341560		2174	4163	6337	SO:0001583	missense	3811							g.chr19:55341560G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1165G>A	19.37:g.55341560G>A	ENSP00000375608:p.Asp389Asn					KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D389N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D372N|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D372N|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D294N	p.D389N	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	9	1198	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.1165G>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	8.341	0.828689	0.16749	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00477	7.22;7.14;7.22;7.14;7.23	0.719	-0.49	0.12049	.	.	.	.	.	T	0.00967	0.0032	M	0.89478	3.035	0.09310	N	1	P;B;B	0.51537	0.946;0.302;0.066	P;B;B	0.53266	0.722;0.347;0.065	T	0.38415	-0.9662	8	0.87932	D	0	.	.	.	.	.	372;294;389	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	N	389;372;367;389;372;294	ENSP00000443350:D389N;ENSP00000442355:D372N;ENSP00000375608:D389N;ENSP00000326868:D372N;ENSP00000350901:D294N	ENSP00000326868:D372N	D	+	1	0	KIR3DL1	60033372	0.000000	0.05858	0.001000	0.08648	0.074000	0.17049	0.095000	0.15127	-0.128000	0.11641	0.184000	0.17185	GAT		0.527	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		68	361	68	361	---	---	---	---
EBP	10682	broad.mit.edu	37	X	48386620	48386620	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chrX:48386620A>T	ENST00000495186.1	+	5	1292		c.e5-1		EBP_ENST00000276096.6_Splice_Site	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)						cholesterol biosynthetic process (GO:0006695)|cholesterol metabolic process (GO:0008203)|drug transmembrane transport (GO:0006855)|hemopoiesis (GO:0030097)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	C-8 sterol isomerase activity (GO:0000247)|cholestenol delta-isomerase activity (GO:0047750)|drug transmembrane transporter activity (GO:0015238)|steroid delta-isomerase activity (GO:0004769)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11					Tamoxifen(DB00675)	TGCCACCCACAGGCCAGATCT	0.537																																					Ovarian(41;550 1000 33077 33474 52335)	ENST00000495186.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11						c.e5-1		emopamil binding protein (sterol isomerase)							66.0	46.0	53.0					X																	48386620		2203	4300	6503	SO:0001630	splice_region_variant	10682				cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity	g.chrX:48386620A>T	Z37986	CCDS14300.1	Xp11.23-p11.22	2013-05-22	2001-11-28		ENSG00000147155	ENSG00000147155			3133	protein-coding gene	gene with protein product	"""3-beta-hydroxysteroid-delta-8,delta-7-isomerase"", ""Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)"", ""sterol 8-isomerase"""	300205	"""emopamil-binding protein (sterol isomerase)"""	CDPX2		7706302, 8938429	Standard	NM_006579		Approved	CPX, CPXD, CHO2	uc004djx.4	Q15125	OTTHUMG00000034482	ENST00000495186.1:c.470-1A>T	X.37:g.48386620A>T						EBP_ENST00000276096.6_Splice_Site		NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN			5	1292	+								Q6FGL3|Q6IBI9	Splice_Site	SNP	ENST00000495186.1	37		CCDS14300.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.621787	0.28889	.	.	ENSG00000147155	ENST00000495186;ENST00000446158	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2285	0.54474	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EBP	48271564	1.000000	0.71417	0.971000	0.41717	0.034000	0.12701	8.081000	0.89511	1.792000	0.52537	0.427000	0.28365	.		0.537	EBP-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083372.1	NM_006579	Intron	3	14	3	14	---	---	---	---
FBXO6	26270	broad.mit.edu	37	1	11733821	11733821	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr1:11733821delG	ENST00000376753.4	+	6	930	c.795delG	c.(793-795)cagfs	p.Q265fs		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	265					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGAACCAGGCCTCCTCCG	0.617																																					NSCLC(54;506 1562 46490 51389)	ENST00000376753.4																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6						c.(793-795)cagfs		F-box protein 6							86.0	83.0	84.0					1																	11733821		2203	4300	6503	SO:0001589	frameshift_variant	26270				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding	g.chr1:11733821delG	AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"""F-boxes /  ""other"""""	13585	protein-coding gene	gene with protein product		605647	"""F-box only protein 6"""			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.795delG	1.37:g.11733821delG	ENSP00000365944:p.Gln265fs						p.Q265fs	NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	6	930	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	265					B1AK42|B2RC88|Q9UKT3	Frame_Shift_Del	DEL	ENST00000376753.4	37	c.795delG	CCDS133.1																																																																																				0.617	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006332.1	NM_018438		8	91	8	91	---	---	---	---
PNPLA7	375775	broad.mit.edu	37	9	140437911	140437912	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr9:140437911_140437912insC	ENST00000277531.4	-	5	589_590	c.403_404insG	c.(403-405)gaafs	p.E135fs	AL365502.1_ENST00000580317.1_RNA|PNPLA7_ENST00000406427.1_Frame_Shift_Ins_p.E160fs	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	135					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTACAGAACTTCCGATGGCAGG	0.639																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(478-480)gaafs		patatin-like phospholipase domain containing 7																																				SO:0001589	frameshift_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140437911_140437912insC	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.404dupG	9.37:g.140437913_140437913dupC	ENSP00000277531:p.Glu135fs					PNPLA7_ENST00000277531.4_Frame_Shift_Ins_p.E135fs	p.E160fs	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	6	814_815	-	all_cancers(76;0.126)		135					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Frame_Shift_Ins	INS	ENST00000277531.4	37	c.478_479insG	CCDS7045.1																																																																																				0.639	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		7	197	7	197	---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15256160	15256160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr10:15256160delC	ENST00000378116.4	-	8	1433	c.1427delG	c.(1426-1428)ggcfs	p.G476fs	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	476						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGACTCGTAGCCTTCTCTTTC	0.483																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(1426-1428)ggcfs		family with sequence similarity 171, member A1							99.0	87.0	91.0					10																	15256160		2203	4300	6503	SO:0001589	frameshift_variant	221061					integral to membrane		g.chr10:15256160delC	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1427delG	10.37:g.15256160delC	ENSP00000367356:p.Gly476fs						p.G476fs	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	1433	-			476					D3DRT9|Q32M49|Q8N4I0	Frame_Shift_Del	DEL	ENST00000378116.4	37	c.1427delG	CCDS31154.1																																																																																				0.483	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		21	132	21	132	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61832387	61832388	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr10:61832387_61832388insT	ENST00000280772.2	-	37	8442_8443	c.8251_8252insA	c.(8251-8253)atafs	p.I2751fs	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2751					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTCTCCTGTATTTTTTTAACT	0.401																																						ENST00000280772.2																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(8251-8253)atafs		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001589	frameshift_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61832387_61832388insT	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8252dupA	10.37:g.61832394_61832394dupT	ENSP00000280772:p.Ile2751fs					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	p.I2751fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	8442_8443	-								B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Ins	INS	ENST00000280772.2	37	c.8251_8252insA	CCDS7258.1																																																																																				0.401	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		18	156	18	156	---	---	---	---
