#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPICE1	152185	broad.mit.edu	37	3	113207801	113207801	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr3:113207801T>C	ENST00000295872.4	-	7	861	c.602A>G	c.(601-603)aAt>aGt	p.N201S		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	201					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CCTGTCTGTATTCGTGTTAGA	0.358																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(601-603)aAt>aGt		spindle and centriole associated protein 1							134.0	123.0	127.0					3																	113207801		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113207801T>C	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.602A>G	3.37:g.113207801T>C	ENSP00000295872:p.Asn201Ser						p.N201S	NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN			7	861	-			201					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.602A>G	CCDS2973.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.185|1.185	-0.637050|-0.637050	0.03557|0.03557	.|.	.|.	ENSG00000163611|ENSG00000163611	ENST00000467618|ENST00000295872	.|T	.|0.30182	.|1.54	4.74|4.74	0.722|0.722	0.18225|0.18225	.|.	.|0.490245	.|0.22298	.|N	.|0.061918	T|T	0.15782|0.15782	0.0380|0.0380	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B;B	.|0.19331	.|0.007;0.035	.|B;B	.|0.16289	.|0.011;0.015	T|T	0.16217|0.16217	-1.0410|-1.0410	5|10	.|0.20046	.|T	.|0.44	-7.4335|-7.4335	3.4848|3.4848	0.07615|0.07615	0.0:0.2782:0.2844:0.4374|0.0:0.2782:0.2844:0.4374	.|.	.|97;201	.|B3KX77;Q8N0Z3	.|.;SPICE_HUMAN	V|S	13|201	.|ENSP00000295872:N201S	.|ENSP00000295872:N201S	I|N	-|-	1|2	0|0	SPICE1|SPICE1	114690491|114690491	0.006000|0.006000	0.16342|0.16342	0.130000|0.130000	0.21974|0.21974	0.247000|0.247000	0.25773|0.25773	1.095000|1.095000	0.30964|0.30964	0.232000|0.232000	0.21100|0.21100	0.379000|0.379000	0.24179|0.24179	ATA|AAT		0.358	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		3	153	0	0	0	0.115264	0	3	153				
SRRM2	23524	broad.mit.edu	37	16	2807800	2807800	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr16:2807800G>T	ENST00000301740.8	+	4	918	c.369G>T	c.(367-369)caG>caT	p.Q123H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	123					mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGACTCACCAgttggcagaat	0.443																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(367-369)caG>caT		serine/arginine repetitive matrix 2							98.0	106.0	103.0					16																	2807800		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2807800G>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.369G>T	16.37:g.2807800G>T	ENSP00000301740:p.Gln123His						p.Q123H	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			4	918	+			123					A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.369G>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283638	0.40394	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000396975;ENST00000426305	T	0.25749	1.78	4.96	4.96	0.65561	.	0.000000	0.49305	D	0.000152	T	0.41627	0.1167	L	0.50333	1.59	0.36345	D	0.859719	D	0.65815	0.995	D	0.74674	0.984	T	0.51140	-0.8743	10	0.87932	D	0	-9.0437	9.3547	0.38159	0.0983:0.0:0.9017:0.0	.	123	Q9UQ35	SRRM2_HUMAN	H	123;123;27;88	ENSP00000301740:Q123H	ENSP00000301740:Q123H	Q	+	3	2	SRRM2	2747801	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.863000	0.56016	2.284000	0.76573	0.462000	0.41574	CAG		0.443	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			42	97	1	0	1.76056e-25	0.859065	2.05398e-25	42	97				
PRDM9	56979	broad.mit.edu	37	5	23524563	23524563	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr5:23524563T>A	ENST00000296682.3	+	10	1253	c.1071T>A	c.(1069-1071)taT>taA	p.Y357*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	357	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGTCTGGTATGGGGATGAAT	0.507										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1069-1071)taT>taA		PR domain containing 9							118.0	117.0	117.0					5																	23524563		1938	4130	6068	SO:0001587	stop_gained	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23524563T>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1071T>A	5.37:g.23524563T>A	ENSP00000296682:p.Tyr357*	HNSCC(3;0.000094)					p.Y357*	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			10	1253	+			357			SET.		B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	37	c.1071T>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	T	33	5.278511	0.95459	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	.	.	.	4.23	-1.19	0.09585	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4407	7.3303	0.26577	0.0:0.4227:0.0:0.5773	.	.	.	.	X	357;151	.	ENSP00000253473:Y151X	Y	+	3	2	PRDM9	23560320	0.031000	0.19500	0.993000	0.49108	0.543000	0.35085	-1.738000	0.01842	-0.130000	0.11599	-0.381000	0.06696	TAT		0.507	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		10	128	0	0	0	0.387290	0	10	128				
DCUN1D4	23142	broad.mit.edu	37	4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000381441.3_Intron	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383																																						ENST00000334635.5																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9						c.(691-693)cTt>cCt		DCN1, defective in cullin neddylation 1, domain containing 4							121.0	119.0	119.0					4																	52777312		2203	4300	6503	SO:0001583	missense	23142							g.chr4:52777312T>C	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"""			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.692T>C	4.37:g.52777312T>C	ENSP00000334625:p.Leu231Pro					DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P|DCUN1D4_ENST00000381441.3_Intron	p.L231P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		9	872	+			231			DCUN1.		B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	c.692T>C	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683870	0.88639	.	.	ENSG00000109184	ENST00000334635;ENST00000381437;ENST00000451288;ENST00000510808	T;T;T	0.69306	-0.39;-0.39;-0.39	5.97	5.97	0.96955	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	D	0.86339	0.5909	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89414	0.3705	10	0.62326	D	0.03	-14.1468	15.642	0.77012	0.0:0.0:0.0:1.0	.	275;231	B4DH25;Q92564	.;DCNL4_HUMAN	P	231;171;275;41	ENSP00000334625:L231P;ENSP00000370846:L171P;ENSP00000389900:L275P	ENSP00000334625:L231P	L	+	2	0	DCUN1D4	52472069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	CTT		0.383	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		3	156	0	0	0	0.115264	0	3	156				
OR10K1	391109	broad.mit.edu	37	1	158436162	158436162	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr1:158436162G>A	ENST00000289451.2	+	1	891	c.811G>A	c.(811-813)Gac>Aac	p.D271N		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCAAGCCAAGACACCCTAAT	0.418																																						ENST00000289451.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(811-813)Gac>Aac		olfactory receptor, family 10, subfamily K, member 1							180.0	164.0	170.0					1																	158436162		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158436162G>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.811G>A	1.37:g.158436162G>A	ENSP00000289451:p.Asp271Asn						p.D271N	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	891	+	all_hematologic(112;0.0378)		271					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.811G>A	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	13.75	2.331053	0.41297	.	.	ENSG00000173285	ENST00000289451	T	0.00216	8.53	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000716	T	0.00210	0.0006	L	0.40543	1.245	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59311	-0.7478	10	0.56958	D	0.05	.	15.5475	0.76118	0.0:0.0:1.0:0.0	.	271	Q8NGX5	O10K1_HUMAN	N	271	ENSP00000289451:D271N	ENSP00000289451:D271N	D	+	1	0	OR10K1	156702786	0.930000	0.31532	0.135000	0.22099	0.575000	0.36095	2.434000	0.44802	2.160000	0.67779	0.557000	0.71058	GAC		0.418	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			4	137	0	0	0	0.217242	0	4	137				
OR10H2	26538	broad.mit.edu	37	19	15839268	15839268	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr19:15839268C>T	ENST00000305899.3	+	1	435	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R139W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CATGAGCCCACGGGGCTGCGC	0.637																																						ENST00000305899.3																			1	Substitution - Missense(1)	p.R139W(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(415-417)Cgg>Tgg		olfactory receptor, family 10, subfamily H, member 2							90.0	73.0	79.0					19																	15839268		2203	4300	6503	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839268C>T	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.415C>T	19.37:g.15839268C>T	ENSP00000306095:p.Arg139Trp						p.R139W	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	435	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		139					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.415C>T	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	13.86	2.363639	0.41902	.	.	ENSG00000171942	ENST00000305899	T	0.42900	0.96	3.4	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.152141	0.30969	N	0.008513	T	0.43389	0.1245	L	0.54908	1.71	0.09310	N	1	D	0.63046	0.992	P	0.56088	0.791	T	0.32851	-0.9891	10	0.59425	D	0.04	.	2.1438	0.03782	0.1997:0.487:0.195:0.1183	.	139	O60403	O10H2_HUMAN	W	139	ENSP00000306095:R139W	ENSP00000306095:R139W	R	+	1	2	OR10H2	15700268	0.000000	0.05858	0.010000	0.14722	0.691000	0.40173	-0.896000	0.04114	0.009000	0.14813	-0.336000	0.08194	CGG		0.637	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			4	89	0	0	0	0.184627	0	4	89				
SPR	6697	broad.mit.edu	37	2	73115548	73115548	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr2:73115548G>A	ENST00000234454.5	+	2	483	c.410G>A	c.(409-411)aGc>aAc	p.S137N	SPR_ENST00000498749.1_Splice_Site	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	137					cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)			lung(4)|ovary(2)	6						CTGACTTCCAGCGTCCTGAAG	0.562											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000234454.5																			0				lung(4)|ovary(2)	6						c.(409-411)aGc>aAc		sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)							171.0	148.0	156.0					2																	73115548		2203	4300	6503	SO:0001583	missense	6697				nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity	g.chr2:73115548G>A		CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	11257	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 38C, member 1"""	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.410G>A	2.37:g.73115548G>A	ENSP00000234454:p.Ser137Asn		OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1142	SPR_ENST00000498749.1_Splice_Site	p.S137N	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN			2	483	+			137					A8K741|D6W5H2|Q53GI9|Q9UBB1	Missense_Mutation	SNP	ENST00000234454.5	37	c.410G>A	CCDS1920.1	.	.	.	.	.	.	.	.	.	.	G	4.989	0.183680	0.09495	.	.	ENSG00000116096	ENST00000234454	D	0.87571	-2.27	5.62	3.81	0.43845	NAD(P)-binding domain (1);	0.744085	0.13560	N	0.378839	T	0.81749	0.4888	L	0.47716	1.5	0.09310	N	1	B	0.24317	0.101	B	0.26693	0.072	T	0.66304	-0.5957	10	0.22109	T	0.4	-17.0835	8.7602	0.34669	0.0767:0.2875:0.6358:0.0	.	137	P35270	SPRE_HUMAN	N	137	ENSP00000234454:S137N	ENSP00000234454:S137N	S	+	2	0	SPR	72969056	0.003000	0.15002	0.006000	0.13384	0.053000	0.15095	1.466000	0.35310	0.726000	0.32339	0.561000	0.74099	AGC		0.562	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251993.2			25	102	0	0	0	0.693898	0	25	102				
DNAH6	1768	broad.mit.edu	37	2	84811124	84811124	+	Splice_Site	SNP	T	T	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr2:84811124T>A	ENST00000237449.6	+	14	2239	c.2231T>A	c.(2230-2232)aTt>aAt	p.I744N	DNAH6_ENST00000389394.3_Splice_Site_p.I744N|DNAH6_ENST00000398278.2_Splice_Site_p.I744N			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	744	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TCCATTTAGATTGAAAGCCTT	0.373																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.e15-1		dynein, axonemal, heavy chain 6							107.0	106.0	106.0					2																	84811124		2203	4300	6503	SO:0001630	splice_region_variant	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84811124T>A	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2230-1T>A	2.37:g.84811124T>A						DNAH6_ENST00000398278.2_Splice_Site_p.I744_splice|DNAH6_ENST00000237449.6_Splice_Site_p.I744_splice	p.I744_splice	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			15	2368	+			744			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Splice_Site	SNP	ENST00000237449.6	37	c.2229_splice	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.345108	0.61073	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26518	1.73;1.84;1.73	5.73	5.73	0.89815	.	0.000000	0.44483	D	0.000456	T	0.46908	0.1417	M	0.63843	1.955	0.46654	D	0.999145	P;D	0.76494	0.459;0.999	B;D	0.65874	0.179;0.939	T	0.39542	-0.9609	10	0.49607	T	0.09	.	14.9947	0.71421	0.0:0.0:0.0:1.0	.	744;323	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	N	744	ENSP00000374045:I744N;ENSP00000381326:I744N;ENSP00000237449:I744N	ENSP00000237449:I744N	I	+	2	0	DNAH6	84664635	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	6.167000	0.71902	2.180000	0.69256	0.482000	0.46254	ATT		0.373	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370	Missense_Mutation	18	71	0	0	0	0.608945	0	18	71				
COL9A1	1297	broad.mit.edu	37	6	70964879	70964879	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:70964879C>T	ENST00000357250.6	-	23	1743	c.1585G>A	c.(1585-1587)Ggt>Agt	p.G529S	COL9A1_ENST00000370499.4_Missense_Mutation_p.G286S|COL9A1_ENST00000320755.7_Missense_Mutation_p.G286S|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	529	Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGGGAGACCAGGAATTCCT	0.423																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(1585-1587)Ggt>Agt		collagen, type IX, alpha 1							154.0	157.0	156.0					6																	70964879		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70964879C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1585G>A	6.37:g.70964879C>T	ENSP00000349790:p.Gly529Ser					COL9A1_ENST00000370499.4_Missense_Mutation_p.G286S|COL9A1_ENST00000320755.7_Missense_Mutation_p.G286S|COL9A1_ENST00000489611.1_5'UTR	p.G529S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			23	1743	-			529			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1585G>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403513	0.62288	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99607	-4.59;-6.27;-4.59	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	H	0.99545	4.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96424	0.9314	10	0.87932	D	0	.	18.0869	0.89461	0.0:1.0:0.0:0.0	.	529;286;102	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	S	529;286;286	ENSP00000349790:G529S;ENSP00000315252:G286S;ENSP00000359530:G286S	ENSP00000315252:G286S	G	-	1	0	COL9A1	71021600	1.000000	0.71417	0.997000	0.53966	0.464000	0.32679	6.190000	0.72057	2.693000	0.91896	0.655000	0.94253	GGT		0.423	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			33	218	0	0	0	0.796494	0	33	218				
MT-ND4	4538	broad.mit.edu	37	M	11403	11403	+	Silent	SNP	G	G	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chrM:11403G>A	ENST00000361381.2	+	1	644	c.644G>A	c.(643-645)tGa>tAa	p.*215*	MT-TR_ENST00000387439.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	215					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						ACTCCACTTATGACTCCCTAA	0.443																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(643-645)tGa>tAa		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001819	synonymous_variant	4538							g.chrM:11403G>A			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.644G>A	M.37:g.11403G>A							p.215_215ins*							1	644	+								Q6RL39|Q6RQN9|Q8HNR8	Nonsense_Mutation	SNP	ENST00000361381.2	37	c.644G>A																																																																																					0.443	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		272	3	0	0	0	0.870114	0	272	3				
MYBPC2	4606	broad.mit.edu	37	19	50940753	50940753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr19:50940753C>T	ENST00000357701.5	+	6	538	c.487C>T	c.(487-489)Cag>Tag	p.Q163*		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	163					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGCCTCTGGGCAGAGTCTAGA	0.587																																						ENST00000357701.5																			0				breast(1)	1						c.(487-489)Cag>Tag		myosin binding protein C, fast type							63.0	58.0	60.0					19																	50940753		1915	4120	6035	SO:0001587	stop_gained	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50940753C>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.487C>T	19.37:g.50940753C>T	ENSP00000350332:p.Gln163*						p.Q163*	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	6	538	+		all_neural(266;0.057)	163					A1L4G9	Nonsense_Mutation	SNP	ENST00000357701.5	37	c.487C>T	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	22.6	4.309916	0.81247	.	.	ENSG00000086967	ENST00000357701	.	.	.	3.53	-0.696	0.11287	.	0.236106	0.19280	U	0.118193	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	5.8845	0.18874	0.2084:0.3825:0.4091:0.0	.	.	.	.	X	163	.	ENSP00000350332:Q163X	Q	+	1	0	MYBPC2	55632565	0.000000	0.05858	0.001000	0.08648	0.863000	0.49368	0.160000	0.16462	0.203000	0.20529	0.401000	0.26515	CAG		0.587	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		5	11	0	0	0	0.248553	0	5	11				
MAGEB18	286514	broad.mit.edu	37	X	26157885	26157885	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chrX:26157885C>A	ENST00000325250.1	+	2	970	c.783C>A	c.(781-783)aaC>aaA	p.N261K		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	261	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AAGTGCCCAACAGTGATCCTC	0.488																																						ENST00000325250.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						c.(781-783)aaC>aaA		melanoma antigen family B, 18							87.0	73.0	78.0					X																	26157885		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157885C>A	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.783C>A	X.37:g.26157885C>A	ENSP00000314543:p.Asn261Lys						p.N261K	NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN			2	970	+			261			MAGE.			Missense_Mutation	SNP	ENST00000325250.1	37	c.783C>A	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	C	8.817	0.936625	0.18206	.	.	ENSG00000176774	ENST00000325250	T	0.04551	3.6	4.56	0.614	0.17603	.	0.202866	0.50627	D	0.000106	T	0.16385	0.0394	M	0.86028	2.79	0.09310	N	1	D	0.60575	0.988	D	0.62955	0.909	T	0.03025	-1.1081	10	0.66056	D	0.02	.	6.6478	0.22945	0.0:0.5349:0.0:0.4651	.	261	Q96M61	MAGBI_HUMAN	K	261	ENSP00000314543:N261K	ENSP00000314543:N261K	N	+	3	2	MAGEB18	26067806	0.178000	0.23122	0.021000	0.16686	0.064000	0.16182	-0.064000	0.11636	-0.020000	0.14032	-0.380000	0.06706	AAC		0.488	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		3	44	1	0	0.00909568	0.150653	0.0103248	3	44				
HSP90B1	7184	broad.mit.edu	37	12	104336889	104336889	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr12:104336889A>G	ENST00000299767.5	+	13	1864	c.1682A>G	c.(1681-1683)aAg>aGg	p.K561R		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	561					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CTTCTGAAAAAGGGCTATGAA	0.418																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(1681-1683)aAg>aGg		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						112.0	121.0	118.0					12																	104336889		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104336889A>G	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1682A>G	12.37:g.104336889A>G	ENSP00000299767:p.Lys561Arg						p.K561R	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			13	1864	+			561					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.1682A>G	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.397139	0.62177	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.11169	2.8	5.85	5.85	0.93711	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	L	0.35723	1.085	0.80722	D	1	B	0.26081	0.141	B	0.25614	0.062	T	0.07578	-1.0765	10	0.06625	T	0.88	.	16.5427	0.84406	1.0:0.0:0.0:0.0	.	561	P14625	ENPL_HUMAN	R	561;311	ENSP00000299767:K561R	ENSP00000299767:K561R	K	+	2	0	HSP90B1	102861019	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.567000	0.82357	2.363000	0.80096	0.523000	0.50628	AAG		0.418	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		4	223	0	0	0	0.184627	0	4	223				
MOG	4340	broad.mit.edu	37	6	29641302	29641302	+	IGR	SNP	C	C	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:29641302C>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Missense_Mutation_p.V196F|ZFP57_ENST00000376883.1_Missense_Mutation_p.V176F|ZFP57_ENST00000376881.3_Missense_Mutation_p.V176F	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGATTGTGAACAAACTGGTGG	0.542																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(526-528)Gtt>Ttt		ZFP57 zinc finger protein							94.0	106.0	102.0					6																	29641302		1295	2563	3858	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641302C>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641302C>A						ZFP57_ENST00000376881.3_Missense_Mutation_p.V176F|ZFP57_ENST00000488757.1_Missense_Mutation_p.V196F	p.V176F			Q9NU63	ZFP57_HUMAN			6	937	-			112					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.526G>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	9.476	1.096849	0.20552	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.52295	0.67;0.67;0.67	3.75	0.182	0.15077	.	0.628588	0.13228	N	0.403868	T	0.34774	0.0909	L	0.56769	1.78	0.09310	N	1	D;D	0.62365	0.991;0.991	P;P	0.60068	0.868;0.868	T	0.17501	-1.0367	10	0.66056	D	0.02	-3.4188	0.4818	0.00549	0.1832:0.3344:0.1943:0.288	.	196;176	Q9NU63-3;Q9NU63-2	.;.	F	196;176;176	ENSP00000418259:V196F;ENSP00000366078:V176F;ENSP00000366080:V176F	ENSP00000366078:V176F	V	-	1	0	ZFP57	29749281	0.000000	0.05858	0.034000	0.17996	0.054000	0.15201	-0.544000	0.06077	0.021000	0.15133	0.655000	0.94253	GTT		0.542	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		3	114	1	0	0.150653	0.150653	0.154328	3	114				
ECE1	1889	broad.mit.edu	37	1	21573852	21573852	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr1:21573852A>G	ENST00000374893.6	-	9	1099	c.1025T>C	c.(1024-1026)tTg>tCg	p.L342S	ECE1_ENST00000264205.6_Missense_Mutation_p.L339S|ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000415912.2_Missense_Mutation_p.L326S|ECE1_ENST00000436918.2_Missense_Mutation_p.L342S|ECE1_ENST00000357071.4_Missense_Mutation_p.L330S	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	342					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GGCGGGTGCCAAGGTCTGCAA	0.532																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(976-978)tTg>tCg		endothelin converting enzyme 1							131.0	123.0	126.0					1																	21573852		2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21573852A>G	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1025T>C	1.37:g.21573852A>G	ENSP00000364028:p.Leu342Ser					ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000436918.2_Missense_Mutation_p.L342S|ECE1_ENST00000374893.6_Missense_Mutation_p.L342S|ECE1_ENST00000357071.4_Missense_Mutation_p.L330S|ECE1_ENST00000264205.6_Missense_Mutation_p.L339S	p.L326S	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	9	1102	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	342					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.977T>C	CCDS215.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377796	0.82682	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	5.48	5.48	0.80851	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.89466	0.6723	M	0.62723	1.935	0.80722	D	1	P;D;P;D;D	0.89917	0.771;1.0;0.932;1.0;1.0	P;D;P;D;D	0.85130	0.574;0.997;0.777;0.992;0.995	D	0.90304	0.4332	10	0.66056	D	0.02	-16.7764	14.4117	0.67119	1.0:0.0:0.0:0.0	.	342;326;342;330;339	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	S	326;330;342;342;339	ENSP00000405088:L326S;ENSP00000349581:L330S;ENSP00000364028:L342S;ENSP00000388439:L342S;ENSP00000264205:L339S	ENSP00000264205:L339S	L	-	2	0	ECE1	21446439	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	8.890000	0.92477	2.071000	0.62044	0.454000	0.30748	TTG		0.532	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		3	96	0	0	0	0.184627	0	3	96				
MT-ND1	4535	broad.mit.edu	37	M	3880	3880	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chrM:3880G>A	ENST00000361390.2	+	1	574	c.574G>A	c.(574-576)Gag>Aag	p.E192K	MT-TN_ENST00000387400.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TY_ENST00000387409.1_RNA|MT-CO1_ENST00000361624.2_5'Flank|MT-TL1_ENST00000386347.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TA_ENST00000387392.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-RNR1_ENST00000389680.2_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	192					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCACACTAGCAGAGACCAACC	0.512																																						ENST00000361390.2																			0				breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						c.(574-576)Gag>Aag		mitochondrially encoded NADH dehydrogenase 1																																				SO:0001583	missense	4535							g.chrM:3880G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.574G>A	M.37:g.3880G>A	ENSP00000354687:p.Glu192Lys						p.192_192insK							1	574	+								C0JKH6|Q37523	Missense_Mutation	SNP	ENST00000361390.2	37	c.574G>A																																																																																					0.512	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024026		206	161	0	0	0	0.870114	0	206	161				
ZNF267	10308	broad.mit.edu	37	16	31925925	31925925	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr16:31925925A>G	ENST00000300870.10	+	4	564	c.355A>G	c.(355-357)Agg>Ggg	p.R119G	ZNF267_ENST00000394846.3_3'UTR	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	119					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAGGTGGAAAAGGGAGGAGTG	0.378																																						ENST00000300870.10																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(355-357)Agg>Ggg		zinc finger protein 267							116.0	115.0	115.0					16																	31925925		2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31925925A>G	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.355A>G	16.37:g.31925925A>G	ENSP00000300870:p.Arg119Gly					ZNF267_ENST00000394846.3_3'UTR|RP11-170L3.8_ENST00000575471.1_RNA	p.R119G	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN			4	564	+			119					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.355A>G	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	4.844	0.156881	0.09236	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.06068	3.35	0.593	0.593	0.17478	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.48043	-0.9069	9	0.18710	T	0.47	.	5.3909	0.16244	0.9999:0.0:1.0E-4:0.0	.	119	Q14586	ZN267_HUMAN	G	119;86	ENSP00000300870:R119G	ENSP00000300870:R119G	R	+	1	2	ZNF267	31833426	0.988000	0.35896	0.008000	0.14137	0.242000	0.25591	0.728000	0.26013	0.466000	0.27193	0.254000	0.18369	AGG		0.378	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		3	142	0	0	0	0.115264	0	3	142				
ZBTB24	9841	broad.mit.edu	37	6	109802299	109802299	+	Missense_Mutation	SNP	T	T	C	rs141429160		TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:109802299T>C	ENST00000230122.3	-	2	1098	c.931A>G	c.(931-933)Atc>Gtc	p.I311V		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	311					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CTCTGGTGGATTGCTAAAAAG	0.458																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(931-933)Atc>Gtc		zinc finger and BTB domain containing 24		T	VAL/ILE,VAL/ILE	0,4406		0,0,2203	125.0	124.0	124.0		931,931	1.7	1.0	6	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZBTB24	NM_001164313.1,NM_014797.2	29,29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	311/334,311/698	109802299	1,13005	2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802299T>C	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.931A>G	6.37:g.109802299T>C	ENSP00000230122:p.Ile311Val						p.I311V	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	1098	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	311					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.931A>G	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674498	0.47781	0.0	1.16E-4	ENSG00000112365	ENST00000230122	T	0.07327	3.2	5.37	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.206052	0.49916	N	0.000131	T	0.04092	0.0114	N	0.11845	0.185	0.31520	N	0.662519	D;D	0.69078	0.997;0.958	D;D	0.79784	0.993;0.97	T	0.39901	-0.9591	10	0.20046	T	0.44	-18.5083	9.1708	0.37081	0.0:0.2076:0.0:0.7924	.	311;311	O43167-2;O43167	.;ZBT24_HUMAN	V	311	ENSP00000230122:I311V	ENSP00000230122:I311V	I	-	1	0	ZBTB24	109908992	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	3.544000	0.53640	0.141000	0.18875	-0.441000	0.05720	ATC		0.458	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		7	268	0	0	0	0.307466	0	7	268				
MT-CYB	4519	broad.mit.edu	37	M	15511	15511	+	Silent	SNP	T	T	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chrM:15511T>C	ENST00000361789.2	+	1	765	c.765T>C	c.(763-765)aaT>aaC	p.N255N	MT-ND6_ENST00000361681.2_5'Flank|MT-TP_ENST00000387461.2_RNA|MT-TT_ENST00000387460.2_RNA|MT-TE_ENST00000387459.1_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	255			Missing (in mitochondrial myopathy; sporadic). {ECO:0000269|PubMed:10502593}.|N -> H (in cardiomyopathy; fatal; post- partum). {ECO:0000269|PubMed:7623448}.		cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						GACCCAGACAATTATACCCTA	0.468											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(763-765)aaT>aaC		mitochondrially encoded cytochrome b																																				SO:0001819	synonymous_variant	4519							g.chrM:15511T>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.765T>C	M.37:g.15511T>C			OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	585		p.255_255insN							1	765	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.765T>C																																																																																					0.468	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		127	218	0	0	0	0.870114	0	127	218				
MEPCE	56257	broad.mit.edu	37	7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr7:100028454G>C	ENST00000310512.2	+	1	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	271					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(811-813)caG>caC		methylphosphate capping enzyme							99.0	109.0	105.0					7																	100028454		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028454G>C	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.813G>C	7.37:g.100028454G>C	ENSP00000308546:p.Gln271His					MEPCE_ENST00000414441.1_5'UTR	p.Q271H	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1201	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		271					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.813G>C	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840902	0.51057	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.62	2.81	0.32909	.	0.175162	0.36703	N	0.002459	T	0.22820	0.0551	N	0.22421	0.69	0.30375	N	0.782541	B	0.21225	0.053	B	0.14023	0.01	T	0.11470	-1.0586	9	0.24483	T	0.36	-0.6486	4.5225	0.11966	0.2002:0.1847:0.6151:0.0	.	271	Q7L2J0	MEPCE_HUMAN	H	271	.	ENSP00000308546:Q271H	Q	+	3	2	MEPCE	99866390	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.904000	0.48719	0.565000	0.29255	0.462000	0.41574	CAG		0.647	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			5	289	0	0	0	0.217242	0	5	289				
PHF7	51533	broad.mit.edu	37	3	52443600	52443600	+	5'Flank	SNP	T	T	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr3:52443600T>C	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000296288.5_Missense_Mutation_p.E31G|BAP1_ENST00000460680.1_Missense_Mutation_p.E31G	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.E31A(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GTCGTAGATCTCCTCCACTTG	0.617																																						ENST00000460680.1										"""N, Mis, F, S, O"""						"""mesothelioma, uveal melanoma"""	"""uveal melanoma, breast, NSCLC, RCC"""		1	Substitution - Missense(1)	p.E31A(1)	kidney(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(91-93)gAg>gGg		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)							218.0	227.0	224.0					3																	52443600		2203	4300	6503	SO:0001631	upstream_gene_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52443600T>C	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443600T>C	Exception_encountered					BAP1_ENST00000296288.5_Missense_Mutation_p.E31G	p.E31G	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	3	563	-			31					K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.92A>G	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	T	33	5.244578	0.95272	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.61274	0.12;0.12	4.97	4.97	0.65823	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87513	0.2441	10	0.87932	D	0	-3.7767	14.6644	0.68896	0.0:0.0:0.0:1.0	.	31	Q92560	BAP1_HUMAN	G	31	ENSP00000417132:E31G;ENSP00000296288:E31G	ENSP00000296288:E31G	E	-	2	0	BAP1	52418640	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.825000	0.86693	1.875000	0.54330	0.533000	0.62120	GAG		0.617	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		9	493	0	0	0	0.335167	0	9	493				
OR51M1	390059	broad.mit.edu	37	11	5410737	5410737	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr11:5410737C>T	ENST00000328611.3	+	1	131	c.109C>T	c.(109-111)Cac>Tac	p.H37Y	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	37					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCATCAAACACTGGATTTT	0.423																																						ENST00000328611.3																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(109-111)Cac>Tac		olfactory receptor, family 51, subfamily M, member 1							184.0	171.0	175.0					11																	5410737		1904	4118	6022	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5410737C>T	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.109C>T	11.37:g.5410737C>T	ENSP00000333196:p.His37Tyr					AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	p.H37Y	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	131	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	37					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.109C>T	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	C	2.478	-0.320315	0.05386	.	.	ENSG00000184698	ENST00000328611	T	0.02944	4.1	4.74	3.8	0.43715	.	0.000000	0.35970	U	0.002870	T	0.01870	0.0059	N	0.25144	0.715	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.49153	-0.8969	10	0.02654	T	1	.	9.0783	0.36536	0.0:0.8964:0.0:0.1036	.	26	Q9H341	O51M1_HUMAN	Y	37	ENSP00000333196:H37Y	ENSP00000333196:H37Y	H	+	1	0	OR51M1	5367313	0.000000	0.05858	0.701000	0.30321	0.897000	0.52465	-0.673000	0.05239	2.442000	0.82660	0.557000	0.71058	CAC		0.423	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		10	144	0	0	0	0.335167	0	10	144				
CDK12	51755	broad.mit.edu	37	17	37682293	37682293	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr17:37682293G>A	ENST00000447079.4	+	13	3517	c.3484G>A	c.(3484-3486)Gaa>Aaa	p.E1162K	CDK12_ENST00000430627.2_Missense_Mutation_p.E1162K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1162					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGCCCTGACGGAAGCTACTTC	0.567			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(3484-3486)Gaa>Aaa		cyclin-dependent kinase 12							77.0	68.0	71.0					17																	37682293		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37682293G>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3484G>A	17.37:g.37682293G>A	ENSP00000398880:p.Glu1162Lys	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.E1162K	p.E1162K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			13	3517	+			1162					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.3484G>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739316	0.69304	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.69926	-0.44;-0.43	5.28	5.28	0.74379	.	0.153579	0.31167	N	0.008127	T	0.57770	0.2076	L	0.43152	1.355	0.38191	D	0.939902	B;B;P	0.36990	0.441;0.441;0.577	B;B;B	0.31686	0.037;0.063;0.134	T	0.59490	-0.7445	10	0.21540	T	0.41	-6.846	18.8847	0.92372	0.0:0.0:1.0:0.0	.	1161;1162;1162	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	K	1162	ENSP00000407720:E1162K;ENSP00000398880:E1162K	ENSP00000407720:E1162K	E	+	1	0	CDK12	34935819	1.000000	0.71417	0.925000	0.36789	0.988000	0.76386	8.656000	0.91102	2.636000	0.89361	0.650000	0.86243	GAA		0.567	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		12	38	0	0	0	0.387290	0	12	38				
SRRM1	10250	broad.mit.edu	37	1	24993386	24993386	+	Missense_Mutation	SNP	G	G	T	rs78787676		TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr1:24993386G>T	ENST00000323848.9	+	13	2024	c.1709G>T	c.(1708-1710)cGc>cTc	p.R570L	SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000479034.1_3'UTR|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	570	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R570L(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCGACGGCGCAGGACTCCC	0.557																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			2	Substitution - Missense(2)	p.R570L(2)	urinary_tract(1)|central_nervous_system(1)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(1708-1710)cGc>cTc		serine/arginine repetitive matrix 1							54.0	45.0	48.0					1																	24993386		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24993386G>T	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1709G>T	1.37:g.24993386G>T	ENSP00000326261:p.Arg570Leu					SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L	p.R570L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	13	2024	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	570			Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.1709G>T	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693027	0.88735	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.34667	1.35;1.35;1.35	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000007	T	0.58104	0.2099	L	0.54323	1.7	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.76575	0.988;0.972	T	0.57318	-0.7832	10	0.62326	D	0.03	-1.2563	19.3453	0.94361	0.0:0.0:1.0:0.0	.	582;570	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	L	570;582;579	ENSP00000326261:R570L;ENSP00000391430:R582L;ENSP00000363510:R579L	ENSP00000326261:R570L	R	+	2	0	SRRM1	24865973	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.773000	0.85462	2.654000	0.90174	0.650000	0.86243	CGC		0.557	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		3	61	1	0	0.115264	0.115264	0.121027	3	61				
SFMBT2	57713	broad.mit.edu	37	10	7412244	7412244	+	Splice_Site	SNP	T	T	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr10:7412244T>C	ENST00000361972.4	-	3	284	c.194A>G	c.(193-195)cAc>cGc	p.H65R	SFMBT2_ENST00000397160.3_Splice_Site_p.H65R|SFMBT2_ENST00000379711.2_Splice_Site_p.H65R|SFMBT2_ENST00000397167.1_Splice_Site_p.H65R|SFMBT2_ENST00000379713.3_Splice_Site_p.H65R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	65					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTTACATACGTGTTTGAATGA	0.473																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.e3+1		Scm-like with four mbt domains 2							118.0	108.0	111.0					10																	7412244		2203	4300	6503	SO:0001630	splice_region_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7412244T>C	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.195+1A>G	10.37:g.7412244T>C						SFMBT2_ENST00000397160.3_Splice_Site_p.H65_splice|SFMBT2_ENST00000397167.1_Splice_Site_p.H65_splice|SFMBT2_ENST00000379713.3_Splice_Site_p.H65_splice|SFMBT2_ENST00000379711.2_Splice_Site_p.H65_splice	p.H65_splice	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			3	284	-			65					A7MD09|Q9HCF5	Splice_Site	SNP	ENST00000361972.4	37	c.195_splice	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.392812	0.62066	.	.	ENSG00000198879	ENST00000361972;ENST00000397167;ENST00000379713;ENST00000379711;ENST00000397160	T;T;T;T;T	0.42131	0.98;0.98;0.98;1.39;1.39	5.24	5.24	0.73138	.	0.096586	0.64402	D	0.000001	T	0.66848	0.2831	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.989	T	0.72411	-0.4302	10	0.87932	D	0	.	15.4442	0.75216	0.0:0.0:0.0:1.0	.	65;65	Q5T981;Q5VUG0	.;SMBT2_HUMAN	R	65	ENSP00000355109:H65R;ENSP00000380353:H65R;ENSP00000369035:H65R;ENSP00000369033:H65R;ENSP00000380346:H65R	ENSP00000355109:H65R	H	-	2	0	SFMBT2	7452250	1.000000	0.71417	0.984000	0.44739	0.299000	0.27559	7.266000	0.78452	2.102000	0.63906	0.533000	0.62120	CAC		0.473	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	Missense_Mutation	3	108	0	0	0	0.150653	0	3	108				
POM121	9883	broad.mit.edu	37	7	72412636	72412636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr7:72412636C>T	ENST00000434423.2	+	11	2104	c.2104C>T	c.(2104-2106)Caa>Taa	p.Q702*	POM121_ENST00000257622.4_Nonsense_Mutation_p.Q437*|POM121_ENST00000446813.1_Nonsense_Mutation_p.Q437*|POM121_ENST00000358357.3_Nonsense_Mutation_p.Q437*|POM121_ENST00000395270.1_Nonsense_Mutation_p.Q437*			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	702	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CGCCCCCAAGCAAAGCTTCCT	0.597																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1309-1311)Caa>Taa		POM121 transmembrane nucleoporin							18.0	25.0	23.0					7																	72412636		1531	3180	4711	SO:0001587	stop_gained	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72412636C>T	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2104C>T	7.37:g.72412636C>T	ENSP00000405562:p.Gln702*					POM121_ENST00000446813.1_Nonsense_Mutation_p.Q437*|POM121_ENST00000257622.4_Nonsense_Mutation_p.Q437*|POM121_ENST00000358357.3_Nonsense_Mutation_p.Q437*|POM121_ENST00000434423.2_Nonsense_Mutation_p.Q702*	p.Q437*	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	2350	+		Lung NSC(55;0.163)	702			Pore side (Potential).|Ser-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Nonsense_Mutation	SNP	ENST00000434423.2	37	c.1309C>T		.	.	.	.	.	.	.	.	.	.	C	46	12.190738	0.99645	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	.	.	.	2.46	1.54	0.23209	.	1.461690	0.05252	N	0.514157	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	6.6638	0.23029	0.0:0.8538:0.0:0.1462	.	.	.	.	X	437;437;437;437;702	.	ENSP00000257622:Q437X	Q	+	1	0	POM121	72050572	0.996000	0.38824	0.046000	0.18839	0.663000	0.39108	4.337000	0.59310	0.350000	0.24002	0.173000	0.16961	CAA		0.597	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			5	113	0	0	0	0.217242	0	5	113				
GRIA4	2893	broad.mit.edu	37	11	105795388	105795388	+	Silent	SNP	C	C	T	rs542853979	byFrequency	TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr11:105795388C>T	ENST00000530497.1	+	11	1740	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D	GRIA4_ENST00000525187.1_Silent_p.D580D|GRIA4_ENST00000282499.5_Silent_p.D580D|GRIA4_ENST00000393127.2_Silent_p.D580D			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	580					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AGCCAGAGGACGGAAAGGAAG	0.473													c|||	2	0.000399361	0.0	0.0	5008	,	,		17185	0.0		0.001	False		,,,				2504	0.001					ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(1738-1740)gaC>gaT		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						142.0	118.0	126.0					11																	105795388		2202	4299	6501	SO:0001819	synonymous_variant	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105795388C>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1740C>T	11.37:g.105795388C>T						GRIA4_ENST00000530497.1_Silent_p.D580D|GRIA4_ENST00000525187.1_Silent_p.D580D|GRIA4_ENST00000282499.5_Silent_p.D580D	p.D580D	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	12	2186	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	580					Q86XE8	Silent	SNP	ENST00000530497.1	37	c.1740C>T	CCDS8333.1																																																																																				0.473	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			9	53	0	0	0	0.335167	0	9	53				
ZBTB24	9841	broad.mit.edu	37	6	109787521	109787521	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:109787521G>C	ENST00000230122.3	-	7	1794	c.1627C>G	c.(1627-1629)Caa>Gaa	p.Q543E	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	543					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GTAGAGAGTTGATATGGCTGT	0.448																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(1627-1629)Caa>Gaa		zinc finger and BTB domain containing 24							152.0	142.0	145.0					6																	109787521		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109787521G>C	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1627C>G	6.37:g.109787521G>C	ENSP00000230122:p.Gln543Glu						p.Q543E	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	7	1794	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	543					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.1627C>G	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794910	0.90453	.	.	ENSG00000112365	ENST00000230122	T	0.11604	2.76	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.13030	0.0316	L	0.29908	0.895	0.53688	D	0.999971	D	0.69078	0.997	D	0.75020	0.985	T	0.11372	-1.0590	10	0.10111	T	0.7	-26.4249	20.6208	0.99490	0.0:0.0:1.0:0.0	.	543	O43167	ZBT24_HUMAN	E	543	ENSP00000230122:Q543E	ENSP00000230122:Q543E	Q	-	1	0	ZBTB24	109894214	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.281000	0.95811	2.882000	0.98803	0.655000	0.94253	CAA		0.448	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		5	177	0	0	0	0.278610	0	5	177				
BTBD7	55727	broad.mit.edu	37	14	93717850	93717850	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr14:93717850T>C	ENST00000334746.5	-	8	2208	c.1901A>G	c.(1900-1902)aAc>aGc	p.N634S	BTBD7_ENST00000554565.1_Missense_Mutation_p.N283S|BTBD7_ENST00000393170.2_Missense_Mutation_p.N208S	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	634					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTGACTGGTTGCTGCTGAT	0.418																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(1900-1902)aAc>aGc		BTB (POZ) domain containing 7							219.0	179.0	192.0					14																	93717850		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93717850T>C	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1901A>G	14.37:g.93717850T>C	ENSP00000335615:p.Asn634Ser					BTBD7_ENST00000554565.1_Missense_Mutation_p.N283S|BTBD7_ENST00000393170.2_Missense_Mutation_p.N208S	p.N634S	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	8	2208	-		all_cancers(154;0.08)	634					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.1901A>G	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656170	0.47467	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.43688	1.28;0.94	5.6	2.0	0.26442	.	0.251004	0.52532	N	0.000071	T	0.16769	0.0403	N	0.02802	-0.49	0.34290	D	0.683127	B;B;B	0.14438	0.002;0.01;0.001	B;B;B	0.14578	0.004;0.011;0.002	T	0.16188	-1.0411	10	0.19590	T	0.45	.	8.8744	0.35337	0.0:0.3665:0.0:0.6335	.	208;283;634	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	S	634;283;249;208	ENSP00000335615:N634S;ENSP00000451010:N283S	ENSP00000335615:N634S	N	-	2	0	BTBD7	92787603	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	0.674000	0.25218	0.105000	0.17753	0.482000	0.46254	AAC		0.418	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		40	239	0	0	0	0.859065	0	40	239				
BMS1	9790	broad.mit.edu	37	10	43318571	43318571	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr10:43318571G>A	ENST00000374518.5	+	20	3201	c.3138G>A	c.(3136-3138)atG>atA	p.M1046I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1046					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.M1046I(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTAGGGAATGTTTAATTCTG	0.393																																						ENST00000374518.4																			1	Substitution - Missense(1)	p.M1046I(1)	endometrium(1)	NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3136-3138)atG>atA		BMS1 ribosome biogenesis factor							74.0	83.0	80.0					10																	43318571		2202	4297	6499	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318571G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3138G>A	10.37:g.43318571G>A	ENSP00000363642:p.Met1046Ile						p.M1046I	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3201	+			1046					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3138G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485181	0.63962	.	.	ENSG00000165733	ENST00000374518	T	0.26957	1.7	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	M	0.86953	2.85	0.80722	D	1	B	0.14438	0.01	B	0.17433	0.018	T	0.48636	-0.9018	10	0.72032	D	0.01	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1046	Q14692	BMS1_HUMAN	I	1046	ENSP00000363642:M1046I	ENSP00000363642:M1046I	M	+	3	0	BMS1	42638577	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.443000	0.97568	2.250000	0.74265	0.454000	0.30748	ATG		0.393	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		5	179	0	0	0	0.278610	0	5	179				
RALGAPA2	57186	broad.mit.edu	37	20	20621386	20621386	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr20:20621386G>T	ENST00000202677.7	-	6	516	c.509C>A	c.(508-510)aCa>aAa	p.T170K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	170					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGTCTCCAGTGTGCAAGGGCC	0.468																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(508-510)aCa>aAa		Ral GTPase activating protein, alpha subunit 2 (catalytic)							100.0	100.0	100.0					20																	20621386		1929	4137	6066	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20621386G>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.509C>A	20.37:g.20621386G>T	ENSP00000202677:p.Thr170Lys						p.T170K	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			6	651	-			170					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.509C>A	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.852875|4.852875	0.91355|0.91355	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000432524|ENST00000202677;ENST00000424981;ENST00000424490;ENST00000438161	.|T;T;T	.|0.77877	.|-1.13;-1.13;-1.13	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.85691|0.85691	0.5755|0.5755	M|M	0.80982|0.80982	2.52|2.52	0.53688|0.53688	D|D	0.999979|0.999979	.|D	.|0.54772	.|0.968	.|P	.|0.53360	.|0.724	D|D	0.85133|0.85133	0.0976|0.0976	5|10	.|0.39692	.|T	.|0.17	.|.	19.6603|19.6603	0.95864|0.95864	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|170	.|Q2PPJ7	.|RGPA2_HUMAN	Q|K	21|170;22;22;170	.|ENSP00000202677:T170K;ENSP00000400901:T22K;ENSP00000412795:T170K	.|ENSP00000202677:T170K	H|T	-|-	3|2	2|0	RALGAPA2|RALGAPA2	20569386|20569386	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.623000|0.623000	0.37688|0.37688	9.249000|9.249000	0.95470|0.95470	2.662000|2.662000	0.90505|0.90505	0.591000|0.591000	0.81541|0.81541	CAC|ACA		0.468	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		3	116	1	0	0.115264	0.115264	0.121027	3	116				
RMND1	55005	broad.mit.edu	37	6	151726916	151726916	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:151726916T>G	ENST00000367303.4	-	11	1378	c.1256A>C	c.(1255-1257)cAc>cCc	p.H419P	RMND1_ENST00000336451.3_Missense_Mutation_p.H208P	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	419					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CTCATTCAGGTGATTCCGCAT	0.373																																						ENST00000367303.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1255-1257)cAc>cCc		required for meiotic nuclear division 1 homolog (S. cerevisiae)							129.0	109.0	116.0					6																	151726916		2203	4300	6503	SO:0001583	missense	55005							g.chr6:151726916T>G	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.1256A>C	6.37:g.151726916T>G	ENSP00000356272:p.His419Pro					RMND1_ENST00000336451.3_Missense_Mutation_p.H208P	p.H419P	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	11	1378	-		Ovarian(120;0.125)	419					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	ENST00000367303.4	37	c.1256A>C	CCDS5232.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.251487	0.80135	.	.	ENSG00000155906	ENST00000336451;ENST00000367303;ENST00000367299	T;T	0.77098	-1.07;0.84	5.55	5.55	0.83447	.	0.097855	0.64402	D	0.000001	D	0.84624	0.5513	M	0.78637	2.42	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	D	0.86784	0.1981	10	0.62326	D	0.03	-10.0954	13.9071	0.63843	0.0:0.0:0.0:1.0	.	419	Q9NWS8	RMND1_HUMAN	P	208;419;110	ENSP00000336683:H208P;ENSP00000356272:H419P	ENSP00000336683:H208P	H	-	2	0	RMND1	151768609	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.359000	0.79477	2.105000	0.64084	0.528000	0.53228	CAC		0.373	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		10	43	0	0	0	0.361761	0	10	43				
MROH2B	133558	broad.mit.edu	37	5	41065518	41065518	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr5:41065518C>A	ENST00000399564.4	-	4	726	c.276G>T	c.(274-276)atG>atT	p.M92I		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	92																	GTACTTCATACATCACAGAGT	0.418																																						ENST00000399564.4																			0											c.(274-276)atG>atT		maestro heat-like repeat family member 2B							91.0	85.0	87.0					5																	41065518		1928	4143	6071	SO:0001583	missense	133558							g.chr5:41065518C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.276G>T	5.37:g.41065518C>A	ENSP00000382476:p.Met92Ile						p.M92I	NM_173489.4	NP_775760.3					4	726	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.276G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561323	0.86335	.	.	ENSG00000171495	ENST00000399564	T	0.07567	3.18	6.16	6.16	0.99307	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.29817	0.0745	M	0.73962	2.25	0.40635	D	0.981894	D	0.58268	0.982	D	0.68943	0.961	T	0.00248	-1.1880	10	0.87932	D	0	.	16.3599	0.83257	0.0:1.0:0.0:0.0	.	92	Q7Z745	HTRB2_HUMAN	I	92	ENSP00000382476:M92I	ENSP00000382476:M92I	M	-	3	0	HEATR7B2	41101275	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.770000	0.55310	2.937000	0.99478	0.650000	0.86243	ATG		0.418	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		3	79	1	0	0.115264	0.115264	0.121027	3	79				
MED15P9	285103	broad.mit.edu	37	2	130893081	130893082	+	RNA	DEL	AA	AA	-			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr2:130893081_130893082delAA	ENST00000427638.1	+	0	542_543					NR_033903.1				mediator complex subunit 15 pseudogene 9																		actccatctcaaaaaaaaaaaa	0.559																																						ENST00000427638.1																			0																																																			0							g.chr2:130893081_130893082delAA	BC036597		2q21.1	2014-05-06	2013-08-13	2013-08-13	ENSG00000223760	ENSG00000223760			44130	pseudogene	pseudogene			"""CCDC74B antisense RNA 1 (non-protein coding)"", ""CCDC74B antisense RNA 1"""	CCDC74B-AS1			Standard	NR_033903		Approved		uc021voa.1				2.37:g.130893091_130893092delAA								NR_033903.1						0	542_543	+									RNA	DEL	ENST00000427638.1	37																																																																																						0.559	MED15P9-002	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000470767.1	NR_033903		2	4						2	4	---	---	---	---
LINC00620	285375	broad.mit.edu	37	3	13716891	13716891	+	RNA	DEL	C	C	-	rs542410169|rs377694156	byFrequency	TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr3:13716891delC	ENST00000419618.1	+	0	113				LINC00620_ENST00000438915.1_RNA	NR_027103.1				long intergenic non-protein coding RNA 620																		ACATAATCAGCCCCCCCGGCC	0.592													?|CCCCCCC|CCCCCC|unsure	5	0.000998403	0.003	0.0014	5008	,	,		18594	0.0		0.0	False		,,,				2504	0.0					ENST00000419618.1																			0																																																			0							g.chr3:13716891delC	BC039529		3p25.1	2013-03-14			ENSG00000224514	ENSG00000224514		"""Long non-coding RNAs"""	44223	non-coding RNA	RNA, long non-coding						23478628, 21368711	Standard	NR_027103		Approved		uc003byd.1		OTTHUMG00000155508		3.37:g.13716891delC						LINC00620_ENST00000438915.1_RNA		NR_027103.1						0	113	+									RNA	DEL	ENST00000419618.1	37																																																																																						0.592	LINC00620-001	KNOWN	basic	antisense	antisense	OTTHUMT00000340428.1	NR_027103		2	4						2	4	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151970890	151970891	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr7:151970890_151970891insT	ENST00000262189.6	-	7	1129_1130	c.911_912insA	c.(910-912)cagfs	p.Q304fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.Q304fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	304					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AATGATACATCTGGGTACATTT	0.436																																						ENST00000355193.2																			0											c.(910-912)catfs		lysine (K)-specific methyltransferase 2C																																				SO:0001589	frameshift_variant	58508							g.chr7:151970890_151970891insT	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.912dupA	7.37:g.151970891_151970891dupT	ENSP00000262189:p.Gln304fs					KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.H304fs	p.H304fs							7	1129_1130	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	ENST00000262189.6	37	c.911_912insA	CCDS5931.1																																																																																				0.436	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			7	318						7	318	---	---	---	---
RP11-430H10.4	0	broad.mit.edu	37	11	45536103	45536103	+	lincRNA	DEL	T	T	-			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr11:45536103delT	ENST00000528445.1	-	0	0				RP11-958J22.1_ENST00000533315.1_RNA																							TTGTTGTACCTTTTTTTAAGC	0.378																																						ENST00000533315.1																			0																																																			0							g.chr11:45536103delT																													11.37:g.45536103delT														0	490	-									RNA	DEL	ENST00000528445.1	37																																																																																						0.378	RP11-430H10.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000390119.1			2	4						2	4	---	---	---	---
POLD3	10714	broad.mit.edu	37	11	74336608	74336609	+	Frame_Shift_Ins	INS	-	-	A	rs375954131		TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr11:74336608_74336609insA	ENST00000263681.2	+	8	1018_1019	c.889_890insA	c.(889-891)gaafs	p.E297fs	POLD3_ENST00000532497.1_Frame_Shift_Ins_p.E191fs|POLD3_ENST00000527458.1_Frame_Shift_Ins_p.E258fs	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	297					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GCTGCAGAAGGAAAAAAAAAGG	0.46																																						ENST00000263681.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18						c.(889-891)aaafs		polymerase (DNA-directed), delta 3, accessory subunit																																				SO:0001589	frameshift_variant	10714				base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:74336608_74336609insA	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.898dupA	11.37:g.74336617_74336617dupA	ENSP00000263681:p.Glu297fs					POLD3_ENST00000532497.1_Frame_Shift_Ins_p.K191fs|POLD3_ENST00000527458.1_Frame_Shift_Ins_p.K258fs	p.K297fs	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN			8	1018_1019	+	Breast(11;3.21e-06)		297					B7ZAI6|Q32MZ9|Q32N00	Frame_Shift_Ins	INS	ENST00000263681.2	37	c.889_890insA	CCDS8233.1																																																																																				0.460	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591		7	57						7	57	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			0							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	6						3	6	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438																																						ENST00000429810.2																			0																																																			0							g.chr16:74372915delT																													16.37:g.74372915delT														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.438	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			6	3						6	3	---	---	---	---
PIEZO1	9780	broad.mit.edu	37	16	88789666	88789667	+	In_Frame_Ins	INS	-	-	CCTGCT	rs11281795	byFrequency	TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr16:88789666_88789667insCCTGCT	ENST00000301015.9	-	32	4651_4652	c.4405_4406insAGCAGG	c.(4405-4407)gca>gAGCAGGca	p.1468_1469insEQ	RP5-1142A6.9_ENST00000564984.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	1468					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						TTCCTGCCTTGCCTGCTCCTGC	0.693														570	0.113818	0.2126	0.0749	5008	,	,		15281	0.0635		0.1004	False		,,,				2504	0.0736					ENST00000301015.9																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						c.(4405-4407)aag>AGCAGGaag		piezo-type mechanosensitive ion channel component 1				656,2422		158,340,1041						-4.8	0.0		dbSNP_120	27	690,5228		145,400,2414	no	coding	PIEZO1	NM_001142864.2		303,740,3455	A1A1,A1R,RR		11.6593,21.3125,14.9622				1346,7650				SO:0001652	inframe_insertion	9780					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane	ion channel activity	g.chr16:88789666_88789667insCCTGCT	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.4400_4405dupAGCAGG	16.37:g.88789667_88789672dupCCTGCT	ENSP00000301015:p.Glu1467_Gln1468dup						p.1468_1469insSR	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN			32	4651_4652	-			1468					A6NHT9|A7E2B7|Q0KKZ9	In_Frame_Ins	INS	ENST00000301015.9	37	c.4405_4406insAGCAGG	CCDS54058.1																																																																																				0.693	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		3	4						3	4	---	---	---	---
LSR	51599	broad.mit.edu	37	19	35753538	35753540	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr19:35753538_35753540delTGC	ENST00000361790.3	+	5	1024_1026	c.865_867delTGC	c.(865-867)tgcdel	p.C291del	AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000354900.3_In_Frame_Del_p.C272del|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000602122.1_In_Frame_Del_p.C272del|LSR_ENST00000347609.4_In_Frame_Del_p.C254del|LSR_ENST00000360798.3_Intron|LSR_ENST00000427250.1_Intron	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	291	Cys-rich.				embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCGCACACTTGCTGCTGCTACG	0.621																																						ENST00000602122.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(808-810)del		lipolysis stimulated lipoprotein receptor																																				SO:0001651	inframe_deletion	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35753538_35753540delTGC	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.865_867delTGC	19.37:g.35753544_35753546delTGC	ENSP00000354575:p.Cys291del					LSR_ENST00000427250.1_Intron|LSR_ENST00000361790.3_In_Frame_Del_p.C291del|LSR_ENST00000360798.3_Intron|LSR_ENST00000354900.3_In_Frame_Del_p.C272del|LSR_ENST00000347609.4_In_Frame_Del_p.C254del|LSR_ENST00000597933.1_3'UTR	p.C272del			Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		4	1295_1297	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		291					A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	In_Frame_Del	DEL	ENST00000361790.3	37	c.808_810delTGC	CCDS12450.1																																																																																				0.621	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		8	143						8	143	---	---	---	---
CTC-512J12.4	0	broad.mit.edu	37	19	44915710	44915710	+	RNA	DEL	C	C	-			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr19:44915710delC	ENST00000588655.1	-	0	488																											tactctccaaccacgcccaga	0.542																																						ENST00000588655.1																			0																																																			0							g.chr19:44915710delC																													19.37:g.44915710delC														0	488	-									RNA	DEL	ENST00000588655.1	37																																																																																						0.542	CTC-512J12.4-001	KNOWN	NMD_likely_if_extended|basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000460829.1			3	3						3	3	---	---	---	---
TXLNGY	246126	broad.mit.edu	37	Y	21758004	21758005	+	RNA	DEL	AG	AG	-			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chrY:21758004_21758005delAG	ENST00000253320.4	+	0	3085_3086																				haematopoietic_and_lymphoid_tissue(1)	1						GAAAGACATCAGAGAGAGAGAG	0.347																																						ENST00000253320.4																			0				haematopoietic_and_lymphoid_tissue(1)	1																																														0							g.chrY:21758004_21758005delAG																													Y.37:g.21758014_21758015delAG										Q9BZA5	CY15A_HUMAN			0	3085_3086	+									RNA	DEL	ENST00000253320.4	37																																																																																						0.347	TXLNG2P-012	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000088781.1			2	4						2	4	---	---	---	---
