#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			6	199	0	0	0	0.021553	0	6	199				
MMS22L	253714	broad.mit.edu	37	6	97702537	97702537	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr6:97702537T>C	ENST00000275053.4	-	10	1280	c.1015A>G	c.(1015-1017)Atg>Gtg	p.M339V	MMS22L_ENST00000369251.2_Missense_Mutation_p.M339V	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	339					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATTACAGGCATAGAGGATCTT	0.368																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1015-1017)Atg>Gtg		MMS22-like, DNA repair protein							148.0	148.0	148.0					6																	97702537		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97702537T>C		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1015A>G	6.37:g.97702537T>C	ENSP00000275053:p.Met339Val					MMS22L_ENST00000369251.2_Missense_Mutation_p.M339V	p.M339V	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN			10	1280	-			339					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.1015A>G	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.504421	0.00155	.	.	ENSG00000146263	ENST00000275053;ENST00000369251;ENST00000510018;ENST00000482634	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	4.75	-2.25	0.06888	.	0.629476	0.14999	N	0.286204	T	0.00967	0.0032	N	0.00289	-1.7	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42899	-0.9424	10	0.02654	T	1	-5.3375	6.8803	0.24168	0.1132:0.4282:0.0:0.4586	.	339;339	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	V	339;339;227;31	ENSP00000275053:M339V;ENSP00000358254:M339V;ENSP00000427288:M227V;ENSP00000421225:M31V	ENSP00000275053:M339V	M	-	1	0	MMS22L	97809258	0.016000	0.18221	0.001000	0.08648	0.394000	0.30568	-0.097000	0.11042	-0.390000	0.07774	-1.032000	0.02404	ATG		0.368	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		7	152	0	0	0	0.038147	0	7	152				
AGAP2	116986	broad.mit.edu	37	12	58129157	58129157	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr12:58129157G>A	ENST00000547588.1	-	2	1221	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	AGAP2_ENST00000257897.3_Missense_Mutation_p.R72C	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	408	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.R72S(1)|p.R408S(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCTACCAGGCGCAGTTCAGGA	0.567																																						ENST00000257897.3																			2	Substitution - Missense(2)	p.R72S(1)|p.R408S(1)	endometrium(2)	breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(214-216)Cgc>Tgc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							131.0	106.0	114.0					12																	58129157		2203	4300	6503	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58129157G>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1222C>T	12.37:g.58129157G>A	ENSP00000449241:p.Arg408Cys					AGAP2_ENST00000547588.1_Missense_Mutation_p.R408C	p.R72C	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			2	299	-			408					A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.214C>T	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.273956|4.273956	0.80580|0.80580	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000328568|ENST00000257897;ENST00000547588	.|T;T	.|0.72051	.|-0.62;-0.62	4.65|4.65	4.65|4.65	0.58169|0.58169	.|Mitochondrial Rho-like (1);	.|0.291574	.|0.29730	.|N	.|0.011341	D|D	0.86372|0.86372	0.5917|0.5917	M|M	0.89715|0.89715	3.055|3.055	0.54753|0.54753	D|D	0.999988|0.999988	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.81914	.|0.98;0.991;0.995	D|D	0.89158|0.89158	0.3528|0.3528	5|10	.|0.87932	.|D	.|0	.|.	15.281|15.281	0.73784|0.73784	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|72;408;408	.|Q99490-2;F8VVT9;Q99490	.|.;.;AGAP2_HUMAN	V|C	271|72;408	.|ENSP00000257897:R72C;ENSP00000449241:R408C	.|ENSP00000257897:R72C	A|R	-|-	2|1	0|0	AGAP2|AGAP2	56415424|56415424	0.002000|0.002000	0.14202|0.14202	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.629000|0.629000	0.24538|0.24538	2.525000|2.525000	0.85131|0.85131	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.567	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		3	38	0	0	0	0.009096	0	3	38				
FDXACB1	91893	broad.mit.edu	37	11	111745983	111745983	+	Missense_Mutation	SNP	C	C	T	rs191172184	byFrequency	TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr11:111745983C>T	ENST00000260257.4	-	5	1585	c.1538G>A	c.(1537-1539)cGt>cAt	p.R513H	ALG9_ENST00000524880.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.R364H|ALG9_ENST00000527377.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	513					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TTTCAGGAAACGGTTATCAAA	0.383													C|||	2	0.000399361	0.0	0.0029	5008	,	,		22340	0.0		0.0	False		,,,				2504	0.0					ENST00000260257.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						c.(1537-1539)cGt>cAt		ferredoxin-fold anticodon binding domain containing 1							51.0	50.0	50.0					11																	111745983		1857	4104	5961	SO:0001583	missense	91893				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr11:111745983C>T		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.1538G>A	11.37:g.111745983C>T	ENSP00000260257:p.Arg513His					ALG9_ENST00000527377.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.R364H|ALG9_ENST00000524880.1_Intron	p.R513H	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN			5	1585	-			513					A0PJW7|B4DUU2	Missense_Mutation	SNP	ENST00000260257.4	37	c.1538G>A	CCDS44729.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.06	2.721872	0.48728	.	.	ENSG00000255561	ENST00000260257;ENST00000542429	T;D	0.83250	-0.71;-1.7	6.07	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.84151	0.5409	M	0.83012	2.62	0.58432	D	0.999999	B	0.27450	0.179	B	0.19391	0.025	D	0.83635	0.0147	10	0.87932	D	0	.	15.6088	0.76696	0.0:0.9343:0.0:0.0657	.	513	Q9BRP7	FDXA1_HUMAN	H	513;364	ENSP00000260257:R513H;ENSP00000441304:R364H	ENSP00000260257:R513H	R	-	2	0	FDXACB1	111251193	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.626000	0.61269	1.584000	0.49913	-0.137000	0.14449	CGT		0.383	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		4	89	0	0	0	0.009096	0	4	89				
CIC	23152	broad.mit.edu	37	19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr19:42791718C>T	ENST00000575354.2	+	5	644	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	CIC_ENST00000160740.3_Missense_Mutation_p.R202W|CIC_ENST00000572681.2_Missense_Mutation_p.R1111W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACATCCGGCGGCCCATGAA	0.622			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R202W(1)	central_nervous_system(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3331-3333)Cgg>Tgg		capicua transcriptional repressor							63.0	67.0	66.0					19																	42791718		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791718C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.604C>T	19.37:g.42791718C>T	ENSP00000458663:p.Arg202Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R202W|CIC_ENST00000575354.2_Missense_Mutation_p.R202W	p.R1111W			Q96RK0	CIC_HUMAN			6	3399	+		Prostate(69;0.00682)	202			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3331C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590136	0.46214	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	3.33	0.38152	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.88273	0.6392	H	0.99238	4.48	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.90719	0.4633	8	0.87932	D	0	-13.7219	11.1765	0.48603	0.1853:0.8147:0.0:0.0	.	202	Q96RK0	CIC_HUMAN	W	202	.	ENSP00000160740:R202W	R	+	1	2	CIC	47483558	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.703000	0.37846	1.030000	0.39839	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			51	28	0	0	0	0.139131	0	51	28				
USP6	9098	broad.mit.edu	37	17	5074028	5074028	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr17:5074028A>T	ENST00000574788.1	+	36	6002	c.3772A>T	c.(3772-3774)Act>Tct	p.T1258S	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.T941S|USP6_ENST00000250066.6_Missense_Mutation_p.T1258S			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1258	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGAGCTGGTCACTCCTCAGGA	0.572			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(3772-3774)Act>Tct		ubiquitin specific peptidase 6 (Tre-2 oncogene)							62.0	53.0	56.0					17																	5074028		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5074028A>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3772A>T	17.37:g.5074028A>T	ENSP00000460380:p.Thr1258Ser					USP6_ENST00000304328.5_Missense_Mutation_p.T941S|USP6_ENST00000250066.6_Missense_Mutation_p.T1258S|USP6_ENST00000332776.4_3'UTR	p.T1258S			P35125	UBP6_HUMAN			36	6002	+			1258					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.3772A>T	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	A	6.469	0.454748	0.12283	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.13778	2.96;2.56	2.35	2.35	0.29111	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.092388	0.85682	D	0.000000	T	0.11110	0.0271	L	0.45137	1.4	0.42212	D	0.991812	B;B	0.30236	0.274;0.042	B;B	0.31101	0.124;0.032	T	0.12785	-1.0534	10	0.32370	T	0.25	.	8.2513	0.31724	1.0:0.0:0.0:0.0	.	941;1258	P35125-2;P35125	.;UBP6_HUMAN	S	1258;941	ENSP00000250066:T1258S;ENSP00000305473:T941S	ENSP00000250066:T1258S	T	+	1	0	USP6	5014752	0.098000	0.21812	0.994000	0.49952	0.251000	0.25915	2.227000	0.42972	1.080000	0.41073	0.155000	0.16302	ACT		0.572	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		5	141	0	0	0	0.021553	0	5	141				
RAB20	55647	broad.mit.edu	37	13	111176298	111176298	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr13:111176298C>T	ENST00000267328.3	-	2	632	c.419G>A	c.(418-420)cGt>cAt	p.R140H		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	140					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			TGGGGAGACACGGTCCCCAGC	0.577																																						ENST00000267328.3																			0				endometrium(2)|large_intestine(2)|lung(3)	7						c.(418-420)cGt>cAt		RAB20, member RAS oncogene family							65.0	61.0	62.0					13																	111176298		2203	4300	6503	SO:0001583	missense	55647				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr13:111176298C>T	AK000436	CCDS9512.1	13q34	2008-07-18			ENSG00000139832	ENSG00000139832		"""RAB, member RAS oncogene"""	18260	protein-coding gene	gene with protein product						11697911	Standard	NM_017817		Approved	FLJ20429	uc001vqy.3	Q9NX57	OTTHUMG00000017343	ENST00000267328.3:c.419G>A	13.37:g.111176298C>T	ENSP00000267328:p.Arg140His						p.R140H	NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)		2	632	-	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		140					Q5T9X5|Q9NX49	Missense_Mutation	SNP	ENST00000267328.3	37	c.419G>A	CCDS9512.1	.	.	.	.	.	.	.	.	.	.	C	5.133	0.210095	0.09757	.	.	ENSG00000139832	ENST00000267328	T	0.67523	-0.27	5.09	2.37	0.29283	.	1.207100	0.05498	N	0.557896	T	0.42607	0.1210	N	0.08118	0	0.09310	N	1	P	0.40282	0.711	B	0.30179	0.112	T	0.32771	-0.9894	10	0.45353	T	0.12	3.8652	7.4592	0.27285	0.0:0.5763:0.2784:0.1453	.	140	Q9NX57	RAB20_HUMAN	H	140	ENSP00000267328:R140H	ENSP00000267328:R140H	R	-	2	0	RAB20	109974299	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.808000	0.27154	0.158000	0.19367	-0.311000	0.09066	CGT		0.577	RAB20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045760.2	NM_017817		4	150	0	0	0	0.009096	0	4	150				
SRSF12	135295	broad.mit.edu	37	6	89816964	89816964	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr6:89816964G>A	ENST00000452027.2	-	2	272	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	27	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)	p.R27C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						AACTCACGGCGCAAGTCCTCA	0.398																																						ENST00000452027.2																			1	Substitution - Missense(1)	p.R27C(1)	breast(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						c.(79-81)Cgc>Tgc		serine/arginine-rich splicing factor 12							85.0	86.0	86.0					6																	89816964		2072	4264	6336	SO:0001583	missense	135295				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding	g.chr6:89816964G>A	AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	21220	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 19"", ""SR splicing factor 12"""		"""splicing factor, arginine/serine-rich 13B"""	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.79C>T	6.37:g.89816964G>A	ENSP00000414302:p.Arg27Cys						p.R27C	NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN			2	272	-			27			RRM.		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	ENST00000452027.2	37	c.79C>T	CCDS47459.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506885	0.85282	.	.	ENSG00000154548	ENST00000452027	T	0.19669	2.13	5.34	5.34	0.76211	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.388499	0.24087	N	0.041668	T	0.52240	0.1722	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.61964	-0.6954	10	0.87932	D	0	.	18.3299	0.90264	0.0:0.0:1.0:0.0	.	27	Q8WXF0	SRS12_HUMAN	C	27	ENSP00000414302:R27C	ENSP00000414302:R27C	R	-	1	0	SRSF12	89873683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.621000	0.90949	2.937000	0.99478	0.650000	0.86243	CGC		0.398	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041474.2	NM_080743		4	111	0	0	0	0.009096	0	4	111				
NOTCH1	4851	broad.mit.edu	37	9	139412204	139412204	+	Splice_Site	SNP	C	C	G			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr9:139412204C>G	ENST00000277541.6	-	8	1516	c.1441G>C	c.(1441-1443)Ggc>Cgc	p.G481R	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	481	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G481S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCGACGCACCGGGCATGCAG	0.667			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)	p.G481S(2)	upper_aerodigestive_tract(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.e8+1		notch 1							43.0	47.0	46.0					9																	139412204		2065	4192	6257	SO:0001630	splice_region_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412204C>G	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1441+1G>C	9.37:g.139412204C>G		HNSCC(8;0.001)					p.G481_splice	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1516	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	481			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Splice_Site	SNP	ENST00000277541.6	37	c.1441_splice	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609280	0.87258	.	.	ENSG00000148400	ENST00000277541	D	0.87412	-2.25	4.47	4.47	0.54385	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95417	0.8512	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97010	0.9735	9	.	.	.	.	16.0962	0.81127	0.0:1.0:0.0:0.0	.	481	P46531	NOTC1_HUMAN	R	481	ENSP00000277541:G481R	.	G	-	1	0	NOTCH1	138532025	1.000000	0.71417	0.142000	0.22268	0.012000	0.07955	7.319000	0.79040	2.029000	0.59856	0.462000	0.41574	GGC		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	Missense_Mutation	43	74	0	0	0	0.117977	0	43	74				
RYR3	6263	broad.mit.edu	37	15	34157386	34157386	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr15:34157386G>A	ENST00000389232.4	+	104	14642	c.14572G>A	c.(14572-14574)Ggt>Agt	p.G4858S	RP11-3D4.2_ENST00000560268.1_RNA|AVEN_ENST00000558136.1_5'Flank|RYR3_ENST00000415757.3_Missense_Mutation_p.G4853S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4858					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTCCCAGCCGGTGACTGCTT	0.393																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(14572-14574)Ggt>Agt		ryanodine receptor 3							92.0	98.0	96.0					15																	34157386		2165	4281	6446	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34157386G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.14572G>A	15.37:g.34157386G>A	ENSP00000373884:p.Gly4858Ser					RYR3_ENST00000415757.3_Missense_Mutation_p.G4853S	p.G4858S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	104	14642	+		all_lung(180;7.18e-09)	4858					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.14572G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706214	0.89018	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.97041	-4.22	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.98560	0.9519	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.988;0.989	D	0.99357	1.0916	10	0.87932	D	0	.	19.0333	0.92967	0.0:0.0:1.0:0.0	.	4853;4858	Q15413-2;Q15413	.;RYR3_HUMAN	S	4858;4854	ENSP00000373884:G4858S	ENSP00000354735:G4854S	G	+	1	0	RYR3	31944678	1.000000	0.71417	0.969000	0.41365	0.367000	0.29736	9.208000	0.95075	2.793000	0.96121	0.655000	0.94253	GGT		0.393	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			3	90	0	0	0	0.115264	0	3	90				
PSG4	5672	broad.mit.edu	37	19	43702179	43702179	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr19:43702179G>A	ENST00000405312.3	-	3	916	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	PSG4_ENST00000244295.9_Missense_Mutation_p.R227C|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	227	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGGTCACTGCGGCTGGCACTC	0.522																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(679-681)Cgc>Tgc		pregnancy specific beta-1-glycoprotein 4							56.0	69.0	65.0					19																	43702179		2120	4262	6382	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43702179G>A		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.679C>T	19.37:g.43702179G>A	ENSP00000384770:p.Arg227Cys					PSG4_ENST00000244295.9_Missense_Mutation_p.R227C|PSG4_ENST00000433626.2_Intron	p.R227C	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			3	916	-		Prostate(69;0.00682)	227			Ig-like C2-type 1.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.679C>T	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	g	11.34	1.608435	0.28623	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000451895	T;T;T	0.12774	2.65;2.65;2.65	1.96	0.638	0.17742	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35068	0.0919	M	0.86651	2.83	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.74674	0.982;0.984;0.946	T	0.06899	-1.0801	9	0.87932	D	0	.	4.8905	0.13724	0.0:0.0:0.6417:0.3583	.	243;227;227	C9JWP2;Q00888-2;Q00888	.;.;PSG4_HUMAN	C	227;227;243	ENSP00000244295:R227C;ENSP00000384770:R227C;ENSP00000388134:R243C	ENSP00000244295:R227C	R	-	1	0	PSG4	48394019	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.471000	0.06631	1.106000	0.41623	0.416000	0.27883	CGC		0.522	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		9	260	0	0	0	0.093190	0	9	260				
PRDM10	56980	broad.mit.edu	37	11	129795084	129795084	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr11:129795084C>T	ENST00000360871.3	-	12	1802	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q	PRDM10_ENST00000423662.2_Missense_Mutation_p.R442Q|PRDM10_ENST00000526082.1_Missense_Mutation_p.R442Q|PRDM10_ENST00000358825.5_Missense_Mutation_p.R528Q|PRDM10_ENST00000304538.6_Missense_Mutation_p.R438Q|PRDM10_ENST00000528746.1_Missense_Mutation_p.R498Q	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTTAAAAGGCCGGAAGGACTT	0.483																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(1582-1584)cGg>cAg		PR domain containing 10							93.0	95.0	95.0					11																	129795084		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129795084C>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1571G>A	11.37:g.129795084C>T	ENSP00000354118:p.Arg524Gln					PRDM10_ENST00000526082.1_Missense_Mutation_p.R442Q|PRDM10_ENST00000304538.6_Missense_Mutation_p.R438Q|PRDM10_ENST00000528746.1_Missense_Mutation_p.R498Q|PRDM10_ENST00000423662.2_Missense_Mutation_p.R442Q|PRDM10_ENST00000360871.3_Missense_Mutation_p.R524Q	p.R528Q	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	13	1814	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	528					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.1583G>A	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	34	5.328336	0.95733	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.17	5.17	0.71159	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.56217	0.1970	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.998;0.999	D;D;D;D;P;D	0.77557	0.978;0.99;0.978;0.99;0.811;0.99	T	0.59752	-0.7395	10	0.87932	D	0	-38.9293	19.0357	0.92976	0.0:1.0:0.0:0.0	.	438;524;528;442;438;442	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	Q	528;438;524;442;498;442;241	ENSP00000351686:R528Q;ENSP00000302669:R438Q;ENSP00000354118:R524Q;ENSP00000398431:R442Q;ENSP00000431262:R498Q;ENSP00000432237:R442Q;ENSP00000435940:R241Q	ENSP00000302669:R438Q	R	-	2	0	PRDM10	129300294	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.445000	0.80570	2.571000	0.86741	0.655000	0.94253	CGG		0.483	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		6	248	0	0	0	0.038147	0	6	248				
TCFL5	10732	broad.mit.edu	37	20	61488943	61488943	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr20:61488943G>A	ENST00000335351.3	-	4	1134	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	TCFL5_ENST00000217162.5_Missense_Mutation_p.R300C	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	348	R3 epitope (recognized by Chagas's antibodies).				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R348C(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TCCAACTGACGCATTCTACTC	0.463																																						ENST00000335351.3																			1	Substitution - Missense(1)	p.R348C(1)	endometrium(1)	breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9						c.(1042-1044)Cgt>Tgt		transcription factor-like 5 (basic helix-loop-helix)							101.0	91.0	94.0					20																	61488943		2203	4300	6503	SO:0001583	missense	10732				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:61488943G>A	AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1042C>T	20.37:g.61488943G>A	ENSP00000334294:p.Arg348Cys					TCFL5_ENST00000217162.5_Missense_Mutation_p.R300C	p.R348C	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN			4	1134	-	Breast(26;5.68e-08)		348			R3 epitope (recognized by Chagas's antibodies).		O94771|Q9BYW0	Missense_Mutation	SNP	ENST00000335351.3	37	c.1042C>T	CCDS13506.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072442	0.55646	.	.	ENSG00000101190	ENST00000335351;ENST00000217162	T;T	0.35605	1.31;1.3	5.31	5.31	0.75309	.	0.240906	0.29916	N	0.010867	T	0.46054	0.1373	L	0.32530	0.975	0.32863	D	0.508239	D;D	0.76494	0.999;0.999	P;P	0.60682	0.878;0.759	T	0.58183	-0.7681	10	0.87932	D	0	-7.3277	14.8197	0.70062	0.0:0.0:0.8469:0.1531	.	300;348	F8W9A4;Q9UL49	.;TCFL5_HUMAN	C	348;300	ENSP00000334294:R348C;ENSP00000217162:R300C	ENSP00000217162:R300C	R	-	1	0	TCFL5	60959388	0.997000	0.39634	0.926000	0.36857	0.984000	0.73092	4.423000	0.59861	2.497000	0.84241	0.585000	0.79938	CGT		0.463	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602		84	134	0	0	0	0.139131	0	84	134				
TUBGCP6	85378	broad.mit.edu	37	22	50658942	50658942	+	Silent	SNP	G	G	C	rs151156085	byFrequency	TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr22:50658942G>C	ENST00000248846.5	-	16	3950	c.3846C>G	c.(3844-3846)ctC>ctG	p.L1282L	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Silent_p.L1282L			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1282					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTTCTGGTGAGAGAGCCCCCA	0.657																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3844-3846)ctC>ctG		tubulin, gamma complex associated protein 6		G		3,4403	6.2+/-15.9	0,3,2200	28.0	29.0	28.0		3846	-3.5	0.0	22	dbSNP_134	28	0,8600		0,0,4300	no	coding-synonymous	TUBGCP6	NM_020461.3		0,3,6500	CC,CG,GG		0.0,0.0681,0.0231		1282/1820	50658942	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50658942G>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3846C>G	22.37:g.50658942G>C						TUBGCP6_ENST00000248846.5_Silent_p.L1282L|TUBGCP6_ENST00000491449.1_5'UTR	p.L1282L	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4338	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1282					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.3846C>G	CCDS14087.1																																																																																				0.657	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		3	46	0	0	0	0.115264	0	3	46				
PKD1	5310	broad.mit.edu	37	16	2155892	2155892	+	Silent	SNP	A	A	G			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr16:2155892A>G	ENST00000262304.4	-	20	8045	c.7837T>C	c.(7837-7839)Ttg>Ctg	p.L2613L	PKD1_ENST00000423118.1_Silent_p.L2613L|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2613	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		Missing (in PKD1; unknown pathological significance). {ECO:0000269|PubMed:11571556}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.L2613L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCAGGGCCAACGAGTACTCG	0.657																																						ENST00000262304.4																			1	Substitution - coding silent(1)	p.L2613L(1)	lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(7837-7839)Ttg>Ctg		polycystic kidney disease 1 (autosomal dominant)							46.0	45.0	45.0					16																	2155892		1400	2465	3865	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2155892A>G	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7837T>C	16.37:g.2155892A>G						PKD1_ENST00000423118.1_Silent_p.L2613L|PKD1_ENST00000561991.1_5'UTR	p.L2613L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			20	8045	-			2613		Missing (in ADPKD1; could be a polymorphism).	REJ.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.7837T>C	CCDS32369.1																																																																																				0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	76	0	0	0	0.009096	0	4	76				
SSH2	85464	broad.mit.edu	37	17	27994187	27994187	+	Silent	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr17:27994187G>A	ENST00000269033.3	-	9	934	c.783C>T	c.(781-783)atC>atT	p.I261I	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.I288I	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	261					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTGCATCATGATCTCCCTTA	0.383																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(781-783)atC>atT		slingshot protein phosphatase 2							169.0	143.0	152.0					17																	27994187		2202	4300	6502	SO:0001819	synonymous_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27994187G>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.783C>T	17.37:g.27994187G>A						RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.I288I	p.I261I	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			9	934	-			261					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	ENST00000269033.3	37	c.783C>T	CCDS11253.1																																																																																				0.383	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		51	100	0	0	0	0.139131	0	51	100				
SMC4	10051	broad.mit.edu	37	3	160141575	160141575	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr3:160141575G>C	ENST00000357388.3	+	15	2723	c.2272G>C	c.(2272-2274)Gta>Cta	p.V758L	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.V758L|SMC4_ENST00000360111.2_Missense_Mutation_p.V758L|SMC4_ENST00000462787.1_Missense_Mutation_p.V758L|SMC4_ENST00000469762.1_Missense_Mutation_p.V733L	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	758	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGGAAGCAAAGTAATGAAAGG	0.383																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2272-2274)Gta>Cta		structural maintenance of chromosomes 4							105.0	107.0	106.0					3																	160141575		2203	4299	6502	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160141575G>C	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2272G>C	3.37:g.160141575G>C	ENSP00000349961:p.Val758Leu					SMC4_ENST00000462787.1_Missense_Mutation_p.V758L|SMC4_ENST00000469762.1_Missense_Mutation_p.V733L|SMC4_ENST00000344722.5_Missense_Mutation_p.V758L|SMC4_ENST00000360111.2_Missense_Mutation_p.V758L|RP11-432B6.3_ENST00000483754.1_Intron	p.V758L	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		15	2723	+			758			Flexible hinge.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.2272G>C	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217943	0.58560	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99	6.17	4.31	0.51392	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.294314	0.37053	N	0.002277	D	0.86740	0.6005	M	0.87456	2.885	0.51233	D	0.999916	B;B;B;B	0.23128	0.069;0.027;0.08;0.039	B;B;B;B	0.31245	0.039;0.114;0.126;0.032	T	0.82486	-0.0433	10	0.28530	T	0.3	-21.049	12.589	0.56434	0.0694:0.1864:0.7442:0.0	.	758;733;733;758	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	L	758;758;733;758;758;352	ENSP00000349961:V758L;ENSP00000353225:V758L;ENSP00000417964:V733L;ENSP00000420734:V758L;ENSP00000341382:V758L	ENSP00000341382:V758L	V	+	1	0	SMC4	161624269	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	2.681000	0.46926	2.941000	0.99782	0.655000	0.94253	GTA		0.383	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			30	133	0	0	0	0.074837	0	30	133				
FBP2	8789	broad.mit.edu	37	9	97333814	97333814	+	Missense_Mutation	SNP	G	G	A	rs199525966	byFrequency	TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr9:97333814G>A	ENST00000375337.3	-	4	563	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	166					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				ACCGTACAGCGCATAACCTGC	0.547																																						ENST00000375337.3																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(496-498)gCg>gTg		fructose-1,6-bisphosphatase 2		G	VAL/ALA	0,4406		0,0,2203	117.0	95.0	102.0		497	5.3	0.9	9		102	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FBP2	NM_003837.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	166/340	97333814	1,13005	2203	4300	6503	SO:0001583	missense	8789				fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	g.chr9:97333814G>A	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.497C>T	9.37:g.97333814G>A	ENSP00000364486:p.Ala166Val						p.A166V	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN			4	563	-		Acute lymphoblastic leukemia(62;0.136)	166					Q17R39|Q6FI53	Missense_Mutation	SNP	ENST00000375337.3	37	c.497C>T	CCDS6711.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	22.1	4.251107	0.80135	0.0	1.16E-4	ENSG00000130957	ENST00000375337	T	0.71222	-0.55	5.26	5.26	0.73747	.	0.047845	0.85682	D	0.000000	T	0.76863	0.4047	L	0.42632	1.34	0.80722	D	1	D	0.76494	0.999	P	0.62649	0.905	T	0.71087	-0.4694	10	0.15952	T	0.53	-19.4693	18.8707	0.92313	0.0:0.0:1.0:0.0	.	166	O00757	F16P2_HUMAN	V	166	ENSP00000364486:A166V	ENSP00000364486:A166V	A	-	2	0	FBP2	96373635	1.000000	0.71417	0.910000	0.35882	0.082000	0.17680	9.567000	0.98161	2.451000	0.82905	0.557000	0.71058	GCG		0.547	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		5	166	0	0	0	0.014758	0	5	166				
ANKRD11	29123	broad.mit.edu	37	16	89350191	89350191	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr16:89350191C>T	ENST00000301030.4	-	9	3219	c.2759G>A	c.(2758-2760)aGg>aAg	p.R920K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R920K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	920	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGCTCTTTCCTCTTCTCAGA	0.547																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2758-2760)aGg>aAg		ankyrin repeat domain 11							85.0	81.0	83.0					16																	89350191		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89350191C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2759G>A	16.37:g.89350191C>T	ENSP00000301030:p.Arg920Lys					ANKRD11_ENST00000378330.2_Missense_Mutation_p.R920K	p.R920K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3219	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	920			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.2759G>A	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	3.096	-0.185821	0.06340	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.32753	1.44;1.44	5.31	2.92	0.33932	.	0.064498	0.56097	D	0.000032	T	0.09335	0.0230	N	0.04508	-0.205	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.18777	-1.0326	10	0.05833	T	0.94	.	2.6144	0.04900	0.0:0.4386:0.2949:0.2665	.	539;920	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	K	920;920;539	ENSP00000301030:R920K;ENSP00000367581:R920K	ENSP00000301030:R920K	R	-	2	0	ANKRD11	87877692	1.000000	0.71417	0.057000	0.19452	0.266000	0.26442	3.235000	0.51328	1.334000	0.45468	0.591000	0.81541	AGG		0.547	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		104	204	0	0	0	0.139131	0	104	204				
DNM1P46	196968	broad.mit.edu	37	15	100332827	100332827	+	RNA	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr15:100332827G>A	ENST00000341853.1	-	0	1364				AC090825.1_ENST00000408584.1_RNA|RN7SL484P_ENST00000462651.2_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										TGACTACAACGAGGGACACAG	0.612																																						ENST00000341853.1																			0																				76.0	77.0	77.0					15																	100332827		876	1991	2867			0							g.chr15:100332827G>A	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100332827G>A								NR_003260.1						0	1364	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.612	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		27	22	0	0	0	0.125774	0	27	22				
ST8SIA1	6489	broad.mit.edu	37	12	22408291	22408291	+	Silent	SNP	G	G	A	rs373672934		TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr12:22408291G>A	ENST00000396037.4	-	3	895	c.414C>T	c.(412-414)tgC>tgT	p.C138C	ST8SIA1_ENST00000539510.1_Intron	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	138					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.C138F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CCACCACCGCGCATTTCTTCA	0.483																																						ENST00000396037.4																			1	Substitution - Missense(1)	p.C138F(1)	lung(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(412-414)tgC>tgT		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1		G		0,4406		0,0,2203	121.0	127.0	125.0		414	-3.4	1.0	12		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ST8SIA1	NM_003034.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		138/357	22408291	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22408291G>A	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.414C>T	12.37:g.22408291G>A						ST8SIA1_ENST00000539510.1_Intron	p.C138C	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN			3	895	-			138					A8K4H6|Q17RL0|Q6PZN5|Q93064	Silent	SNP	ENST00000396037.4	37	c.414C>T	CCDS8697.1																																																																																				0.483	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		5	285	0	0	0	0.014758	0	5	285				
PLCB1	23236	broad.mit.edu	37	20	8862304	8862304	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr20:8862304A>C	ENST00000338037.6	+	32	3486	c.3459A>C	c.(3457-3459)aaA>aaC	p.K1153N	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1153					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACCAAGACAAATTCAAAAGAC	0.468																																						ENST00000338037.6																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(3457-3459)aaA>aaC		phospholipase C, beta 1 (phosphoinositide-specific)							142.0	151.0	148.0					20																	8862304		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8862304A>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3459A>C	20.37:g.8862304A>C	ENSP00000338185:p.Lys1153Asn					PLCB1_ENST00000378641.3_3'UTR	p.K1153N	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN			32	3486	+			1153					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.3459A>C	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582824	0.65992	.	.	ENSG00000182621	ENST00000338037;ENST00000441163	T	0.50548	0.74	5.86	1.11	0.20524	PLC-beta, C-terminal (1);	0.054287	0.64402	D	0.000001	T	0.51227	0.1662	L	0.50333	1.59	0.80722	D	1	D	0.57571	0.98	P	0.57371	0.819	T	0.50101	-0.8867	10	0.87932	D	0	.	7.4901	0.27456	0.7103:0.0:0.2897:0.0	.	1153	Q9NQ66	PLCB1_HUMAN	N	1153;1073	ENSP00000338185:K1153N	ENSP00000338185:K1153N	K	+	3	2	PLCB1	8810304	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.564000	0.36375	0.323000	0.23307	-0.242000	0.12053	AAA		0.468	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			159	228	0	0	0	0.139131	0	159	228				
KCNU1	157855	broad.mit.edu	37	8	36766859	36766859	+	Missense_Mutation	SNP	C	C	T	rs199759602		TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr8:36766859C>T	ENST00000399881.3	+	21	2174	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	713	Segment S9.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R713W(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GTATAAGTTTCGGAACCATAT	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16879	0.0		0.0	False		,,,				2504	0.0					ENST00000399881.3																			2	Substitution - Missense(2)	p.R713W(2)	large_intestine(2)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2137-2139)Cgg>Tgg		potassium channel, subfamily U, member 1		C	TRP/ARG	8,3754		0,8,1873	219.0	212.0	214.0		2137	4.9	0.9	8		214	0,8242		0,0,4121	yes	missense	KCNU1	NM_001031836.2	101	0,8,5994	TT,TC,CC		0.0,0.2127,0.0666	probably-damaging	713/1150	36766859	8,11996	1881	4121	6002	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36766859C>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2137C>T	8.37:g.36766859C>T	ENSP00000382770:p.Arg713Trp						p.R713W	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	21	2174	+			713			Segment S9.			Missense_Mutation	SNP	ENST00000399881.3	37	c.2137C>T	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245906	0.39697	0.002127	0.0	ENSG00000215262	ENST00000399881	T	0.32272	1.46	5.8	4.93	0.64822	.	0.758151	0.10676	U	0.646924	T	0.32675	0.0837	L	0.54323	1.7	0.80722	D	1	B	0.23490	0.086	B	0.15052	0.012	T	0.06972	-1.0797	10	0.66056	D	0.02	-2.6227	12.8229	0.57704	0.0:0.9241:0.0:0.0759	.	713	A8MYU2	KCNU1_HUMAN	W	713	ENSP00000382770:R713W	ENSP00000382770:R713W	R	+	1	2	KCNU1	36886017	0.998000	0.40836	0.914000	0.36105	0.011000	0.07611	2.455000	0.44988	1.468000	0.48064	-0.136000	0.14681	CGG		0.468	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		238	352	0	0	0	0.139131	0	238	352				
SBF1	6305	broad.mit.edu	37	22	50898523	50898523	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr22:50898523T>C	ENST00000390679.3	-	26	3533	c.3349A>G	c.(3349-3351)Acc>Gcc	p.T1117A	SBF1_ENST00000348911.6_Missense_Mutation_p.T1118A|SBF1_ENST00000380817.3_Missense_Mutation_p.T1117A|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1117					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCTCATGGTCATGCGGTCG	0.677																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3349-3351)Acc>Gcc		SET binding factor 1							43.0	51.0	48.0					22																	50898523		2200	4299	6499	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50898523T>C	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3349A>G	22.37:g.50898523T>C	ENSP00000375097:p.Thr1117Ala					SBF1_ENST00000390679.3_Missense_Mutation_p.T1117A|SBF1_ENST00000348911.6_Missense_Mutation_p.T1118A	p.T1117A	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	26	3532	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1117					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.3349A>G		.	.	.	.	.	.	.	.	.	.	T	17.83	3.485457	0.63962	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	T;T;T	0.04551	3.6;3.6;3.6	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.19046	0.0457	M	0.72894	2.215	0.58432	D	0.999999	B;D	0.67145	0.044;0.996	B;D	0.76071	0.045;0.987	T	0.00458	-1.1727	10	0.66056	D	0.02	.	13.2155	0.59856	0.0:0.0:0.0:1.0	.	1117;1117	O95248;O95248-4	MTMR5_HUMAN;.	A	1117;1118;1127;1117	ENSP00000370196:T1117A;ENSP00000252027:T1118A;ENSP00000375097:T1117A	ENSP00000336522:T1127A	T	-	1	0	SBF1	49245389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.575000	0.82447	1.781000	0.52344	0.459000	0.35465	ACC		0.677	SBF1-201	KNOWN	basic	protein_coding	protein_coding				3	91	0	0	0	0.115264	0	3	91				
RIOK1	83732	broad.mit.edu	37	6	7398936	7398936	+	Missense_Mutation	SNP	G	G	A	rs539584287		TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr6:7398936G>A	ENST00000379834.2	+	5	950	c.443G>A	c.(442-444)cGc>cAc	p.R148H		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	148							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GTTAGGTATCGCATCAAAGAT	0.313																																						ENST00000379834.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(442-444)cGc>cAc		RIO kinase 1							212.0	205.0	207.0					6																	7398936		2203	4300	6503	SO:0001583	missense	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7398936G>A	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.443G>A	6.37:g.7398936G>A	ENSP00000369162:p.Arg148His						p.R148H	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			5	950	+	Ovarian(93;0.0418)		148					B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	37	c.443G>A	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659771	0.88154	.	.	ENSG00000124784	ENST00000379834	T	0.08896	3.04	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.13970	0.0338	M	0.83223	2.63	0.80722	D	1	D	0.57571	0.98	P	0.48654	0.585	T	0.03503	-1.1030	10	0.72032	D	0.01	-9.8944	17.1646	0.86812	0.0:0.0:1.0:0.0	.	148	Q9BRS2	RIOK1_HUMAN	H	148	ENSP00000369162:R148H	ENSP00000369162:R148H	R	+	2	0	RIOK1	7343935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.303000	0.78871	2.347000	0.79759	0.591000	0.81541	CGC		0.313	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		4	145	0	0	0	0.014758	0	4	145				
KIAA1324L	222223	broad.mit.edu	37	7	86526826	86526826	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr7:86526826A>C	ENST00000450689.2	-	19	2866	c.2681T>G	c.(2680-2682)tTt>tGt	p.F894C	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.F654C|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.F823C|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.F727C	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	894						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCTTACCTGAAATCCTCTCTT	0.468																																						ENST00000450689.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2680-2682)tTt>tGt		KIAA1324-like							104.0	102.0	103.0					7																	86526826		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86526826A>C	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2681T>G	7.37:g.86526826A>C	ENSP00000413445:p.Phe894Cys					KIAA1324L_ENST00000444627.1_Missense_Mutation_p.F823C|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.F654C|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.F727C	p.F894C	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			19	2866	-	Esophageal squamous(14;0.0058)		894					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2681T>G	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.20|14.20	2.464968|2.464968	0.43839|0.43839	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.17213|.	2.56;2.3;2.29;2.3|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.403356|.	0.30151|.	N|.	0.010297|.	T|T	0.40645|0.40645	0.1125|0.1125	L|L	0.40543|0.40543	1.245|1.245	0.27833|0.27833	N|N	0.94137|0.94137	P;P;P|.	0.39696|.	0.617;0.683;0.683|.	P;B;B|.	0.48488|.	0.579;0.163;0.163|.	T|T	0.34204|0.34204	-0.9838|-0.9838	10|5	0.35671|.	T|.	0.21|.	.|.	10.2326|10.2326	0.43264|0.43264	0.8522:0.0:0.0:0.1478|0.8522:0.0:0.0:0.1478	.|.	894;654;727|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	C|M	894;654;823;727|854	ENSP00000413445:F894C;ENSP00000297222:F654C;ENSP00000397377:F823C;ENSP00000402390:F727C|.	ENSP00000297222:F654C|.	F|I	-|-	2|3	0|3	KIAA1324L|KIAA1324L	86364762|86364762	0.961000|0.961000	0.32948|0.32948	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.929000|3.929000	0.56514|0.56514	2.134000|2.134000	0.65973|0.65973	0.528000|0.528000	0.53228|0.53228	TTT|ATT		0.468	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		69	129	0	0	0	0.139131	0	69	129				
HEATR5B	54497	broad.mit.edu	37	2	37265041	37265041	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr2:37265041G>A	ENST00000233099.5	-	21	3268	c.3173C>T	c.(3172-3174)gCa>gTa	p.A1058V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1058V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1058						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATGTCGTGGTGCAAACATGTG	0.383																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(3172-3174)gCa>gTa		HEAT repeat containing 5B							113.0	98.0	103.0					2																	37265041		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37265041G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3173C>T	2.37:g.37265041G>A	ENSP00000233099:p.Ala1058Val					HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1058V	p.A1058V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			21	3268	-		all_hematologic(82;0.21)	1058					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.3173C>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260100	0.95368	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.08546	3.08;3.08	5.16	5.16	0.70880	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	M	0.75615	2.305	0.80722	D	1	D	0.64830	0.994	D	0.67231	0.95	T	0.02167	-1.1202	10	0.62326	D	0.03	-13.7478	18.6563	0.91455	0.0:0.0:1.0:0.0	.	1058	Q9P2D3	HTR5B_HUMAN	V	1058	ENSP00000233099:A1058V;ENSP00000346531:A1058V	ENSP00000233099:A1058V	A	-	2	0	HEATR5B	37118545	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.729000	0.98795	2.394000	0.81467	0.643000	0.83706	GCA		0.383	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		43	71	0	0	0	0.139131	0	43	71				
PPFIA1	8500	broad.mit.edu	37	11	70208264	70208264	+	Silent	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr11:70208264G>A	ENST00000253925.7	+	20	2861	c.2646G>A	c.(2644-2646)acG>acA	p.T882T	PPFIA1_ENST00000389547.3_Silent_p.T882T|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	882	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ACGGGCCAACGGTTGTGGTCT	0.448																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(2644-2646)acG>acA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							130.0	121.0	124.0					11																	70208264		2200	4294	6494	SO:0001819	synonymous_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70208264G>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2646G>A	11.37:g.70208264G>A						PPFIA1_ENST00000389547.3_Silent_p.T882T|AP000487.6_ENST00000528607.1_RNA	p.T882T	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		20	2861	+			882			SAM 1.		A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	c.2646G>A	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	3.093	-0.186402	0.06340	.	.	ENSG00000131626	ENST00000528750	.	.	.	5.42	-10.8	0.00216	.	.	.	.	.	T	0.33789	0.0875	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45234	-0.9275	4	.	.	.	.	3.0496	0.06165	0.4314:0.1133:0.3256:0.1296	.	.	.	.	Q	325	.	.	R	+	2	0	PPFIA1	69885912	0.000000	0.05858	0.003000	0.11579	0.539000	0.34962	-3.965000	0.00324	-3.101000	0.00244	-0.410000	0.06199	CGG		0.448	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		59	94	0	0	0	0.139131	0	59	94				
FRAS1	80144	broad.mit.edu	37	4	79420950	79420950	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr4:79420950A>G	ENST00000264895.6	+	61	9631	c.9191A>G	c.(9190-9192)aAc>aGc	p.N3064S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3060	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCGATTCTGAACATCAAGGTG	0.532																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(9190-9192)aAc>aGc		Fraser syndrome 1							130.0	127.0	128.0					4																	79420950		1961	4158	6119	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79420950A>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9191A>G	4.37:g.79420950A>G	ENSP00000264895:p.Asn3064Ser						p.N3064S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			61	9631	+			3059			Calx-beta 5.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.9191A>G	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	A	6.722	0.501913	0.12822	.	.	ENSG00000138759	ENST00000264895	T	0.28255	1.62	5.91	3.15	0.36227	.	0.150584	0.56097	N	0.000022	T	0.11580	0.0282	N	0.04297	-0.235	0.80722	D	1	B;B	0.21688	0.028;0.059	B;B	0.22152	0.023;0.038	T	0.10042	-1.0647	10	0.12766	T	0.61	.	5.9437	0.19207	0.6892:0.1341:0.1767:0.0	.	3063;3064	Q86XX4-2;E9PHH6	.;.	S	3064	ENSP00000264895:N3064S	ENSP00000264895:N3064S	N	+	2	0	FRAS1	79639974	1.000000	0.71417	0.993000	0.49108	0.456000	0.32438	1.099000	0.31013	0.840000	0.34995	0.533000	0.62120	AAC		0.532	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				106	142	0	0	0	0.139131	0	106	142				
IL15	3600	broad.mit.edu	37	4	142651106	142651106	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr4:142651106T>C	ENST00000296545.7	+	7	1191	c.347T>C	c.(346-348)aTc>aCc	p.I116T	IL15_ENST00000477265.1_Missense_Mutation_p.I89T|IL15_ENST00000529613.1_Missense_Mutation_p.I116T|IL15_ENST00000514653.1_Missense_Mutation_p.I89T|IL15_ENST00000394159.1_Missense_Mutation_p.I89T|IL15_ENST00000320650.4_Missense_Mutation_p.I116T			P40933	IL15_HUMAN	interleukin 15	116					aging (GO:0007568)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|cellular response to vitamin D (GO:0071305)|extrathymic T cell selection (GO:0045062)|hyaluronan metabolic process (GO:0030212)|immune response (GO:0006955)|inflammatory response (GO:0006954)|lymph node development (GO:0048535)|natural killer cell differentiation (GO:0001779)|negative regulation of smooth muscle cell proliferation (GO:0048662)|NK T cell proliferation (GO:0001866)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immune response (GO:0050778)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of defense response to virus by host (GO:0050691)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					AATCTGATCATCCTAGCAAAC	0.388																																					Pancreas(10;184 986 25902)	ENST00000477265.1																			0				kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5						c.(265-267)aTc>aCc		interleukin 15							122.0	122.0	122.0					4																	142651106		2203	4299	6502	SO:0001583	missense	3600				cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity	g.chr4:142651106T>C	U14407	CCDS3755.1, CCDS3756.1	4q31	2011-07-14			ENSG00000164136	ENSG00000164136		"""Interleukins and interleukin receptors"""	5977	protein-coding gene	gene with protein product		600554				8178155	Standard	NM_000585		Approved	IL-15, MGC9721	uc003iis.3	P40933	OTTHUMG00000133418	ENST00000296545.7:c.347T>C	4.37:g.142651106T>C	ENSP00000296545:p.Ile116Thr					IL15_ENST00000514653.1_Missense_Mutation_p.I89T|IL15_ENST00000529613.1_Missense_Mutation_p.I116T|IL15_ENST00000296545.7_Missense_Mutation_p.I116T|IL15_ENST00000320650.4_Missense_Mutation_p.I116T|IL15_ENST00000394159.1_Missense_Mutation_p.I89T	p.I89T			P40933	IL15_HUMAN			6	5274	+	all_hematologic(180;0.158)		116					D3DNZ2|O00440|O43512|Q495Z8|Q6FGX7|Q93058|Q9UBA3	Missense_Mutation	SNP	ENST00000296545.7	37	c.266T>C	CCDS3755.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.257665	0.22965	.	.	ENSG00000164136	ENST00000320650;ENST00000296545;ENST00000514653;ENST00000529613;ENST00000477265;ENST00000394159	.	.	.	5.49	4.28	0.50868	.	0.566881	0.18079	N	0.152356	T	0.49218	0.1544	M	0.69823	2.125	0.25384	N	0.98859	P	0.43352	0.804	P	0.48270	0.572	T	0.42766	-0.9432	9	0.49607	T	0.09	-1.9242	8.6396	0.33970	0.1768:0.0:0.0:0.8232	.	116	P40933	IL15_HUMAN	T	116;116;89;116;89;89	.	ENSP00000296545:I116T	I	+	2	0	IL15	142870556	0.026000	0.19158	0.610000	0.28997	0.047000	0.14425	2.199000	0.42715	0.985000	0.38656	0.528000	0.53228	ATC		0.388	IL15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257278.2	NM_172175		62	166	0	0	0	0.139131	0	62	166				
PIWIL4	143689	broad.mit.edu	37	11	94328554	94328554	+	Silent	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr11:94328554G>A	ENST00000299001.6	+	10	1441	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	410					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTCAGGCCGGCAGCAGCGCC	0.512																																						ENST00000299001.6																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30						c.(1228-1230)cgG>cgA		piwi-like RNA-mediated gene silencing 4							94.0	88.0	90.0					11																	94328554		2201	4298	6499	SO:0001819	synonymous_variant	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94328554G>A	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1230G>A	11.37:g.94328554G>A						RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	p.R410R	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN			10	1441	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	410					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	37	c.1230G>A	CCDS31656.1																																																																																				0.512	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		5	228	0	0	0	0.014758	0	5	228				
KCNJ13	3769	broad.mit.edu	37	2	233635999	233635999	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr2:233635999C>T	ENST00000233826.3	-	2	213	c.74G>A	c.(73-75)gGc>gAc	p.G25D	GIGYF2_ENST00000409547.1_Intron|KCNJ13_ENST00000409779.1_Missense_Mutation_p.G25D|KCNJ13_ENST00000410029.1_Missense_Mutation_p.G25D|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409451.3_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	25					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		TGTGCTGTGGCCATCCTTGGT	0.468																																						ENST00000233826.3																			0				endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9						c.(73-75)gGc>gAc		potassium inwardly-rectifying channel, subfamily J, member 13							134.0	115.0	121.0					2																	233635999		2203	4300	6503	SO:0001583	missense	3769					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr2:233635999C>T	AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.74G>A	2.37:g.233635999C>T	ENSP00000233826:p.Gly25Asp					GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000373563.4_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.G25D|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000373566.3_Intron|KCNJ13_ENST00000409779.1_Missense_Mutation_p.G25D	p.G25D	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)	2	213	-		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)	25					A0PGH1|O76023|Q53SA1|Q8N3Y4	Missense_Mutation	SNP	ENST00000233826.3	37	c.74G>A	CCDS2498.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100253	0.94245	.	.	ENSG00000115474	ENST00000233826;ENST00000409779;ENST00000410029	D;D;D	0.97924	-4.61;-4.61;-4.61	5.75	5.75	0.90469	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.044679	0.85682	D	0.000000	D	0.98972	0.9650	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99605	1.0979	10	0.87932	D	0	.	19.9352	0.97137	0.0:1.0:0.0:0.0	.	25;25	O60928;A0PGH1	IRK13_HUMAN;.	D	25	ENSP00000233826:G25D;ENSP00000386408:G25D;ENSP00000386251:G25D	ENSP00000233826:G25D	G	-	2	0	KCNJ13	233344243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.703000	0.92315	0.655000	0.94253	GGC		0.468	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257036.1	NM_002242		4	117	0	0	0	0.014758	0	4	117				
UBAC2	337867	broad.mit.edu	37	13	99853778	99853778	+	Intron	SNP	G	G	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr13:99853778G>T	ENST00000403766.3	+	1	166				UBAC2_ENST00000376440.2_Missense_Mutation_p.C38F|UBAC2-AS1_ENST00000426037.2_lincRNA	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2						protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.C38F(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCTGTGCTGCTGGATGTTG	0.507											OREG0022482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000376440.2																			1	Substitution - Missense(1)	p.C38F(1)	kidney(1)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10						c.(112-114)tGc>tTc		UBA domain containing 2							138.0	116.0	124.0					13																	99853778		2203	4300	6503	SO:0001627	intron_variant	337867					integral to membrane		g.chr13:99853778G>T	AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"""phosphoglycerate dehydrogenase like 1"""	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.31+585G>T	13.37:g.99853778G>T			OREG0022482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1346	UBAC2_ENST00000403766.3_Intron	p.C38F	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN			1	616	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		0					B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Missense_Mutation	SNP	ENST00000403766.3	37	c.113G>T	CCDS45064.1	.	.	.	.	.	.	.	.	.	.	g	10.60	1.397058	0.25205	.	.	ENSG00000134882	ENST00000376440	.	.	.	3.06	0.0793	0.14415	.	.	.	.	.	T	0.17408	0.0418	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.23976	-1.0173	6	.	.	.	.	1.5404	0.02554	0.1292:0.201:0.4445:0.2253	.	38	Q8NBM4-2	.	F	38	.	.	C	+	2	0	UBAC2	98651779	0.002000	0.14202	0.108000	0.21378	0.141000	0.21300	0.361000	0.20267	-0.023000	0.13963	0.454000	0.30748	TGC		0.507	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045588.1	NM_177967		6	108	1	0	0.0293803	0.029380	0.0349766	6	108				
BCL9	607	broad.mit.edu	37	1	147092354	147092354	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr1:147092354G>T	ENST00000234739.3	+	8	3133	c.2393G>T	c.(2392-2394)cGg>cTg	p.R798L		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	798	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGTGGCTTGCGGAATCTCAGA	0.587			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(2392-2394)cGg>cTg		B-cell CLL/lymphoma 9							40.0	41.0	41.0					1																	147092354		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147092354G>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2393G>T	1.37:g.147092354G>T	ENSP00000234739:p.Arg798Leu						p.R798L	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	3133	+	all_hematologic(923;0.115)		798			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.2393G>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	9.431	1.085450	0.20390	.	.	ENSG00000116128	ENST00000234739	T	0.47528	0.84	5.0	4.09	0.47781	.	0.066849	0.64402	D	0.000011	T	0.14013	0.0339	N	0.19112	0.55	0.48395	D	0.999646	B;B	0.22276	0.067;0.067	B;B	0.14578	0.011;0.011	T	0.07347	-1.0777	10	0.10111	T	0.7	-12.6653	13.4586	0.61214	0.0751:0.0:0.9249:0.0	.	798;798	Q1JQ81;O00512	.;BCL9_HUMAN	L	798	ENSP00000234739:R798L	ENSP00000234739:R798L	R	+	2	0	BCL9	145558978	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.251000	0.72441	1.351000	0.45789	-0.136000	0.14681	CGG		0.587	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		4	52	1	0	5.18039e-06	0.038147	6.47549e-06	4	52				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			68	89	0	0	0	0.139131	0	68	89				
ECM1	1893	broad.mit.edu	37	1	150482440	150482440	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr1:150482440A>G	ENST00000369047.4	+	4	391	c.266A>G	c.(265-267)gAa>gGa	p.E89G	ECM1_ENST00000346569.6_Missense_Mutation_p.E89G|ECM1_ENST00000369049.4_Missense_Mutation_p.E116G|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	89					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCCAACAGGAAAAGCTGCTA	0.597																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22						c.(265-267)gAa>gGa		extracellular matrix protein 1							83.0	82.0	82.0					1																	150482440		2203	4300	6503	SO:0001583	missense	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150482440A>G	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.266A>G	1.37:g.150482440A>G	ENSP00000358043:p.Glu89Gly					ECM1_ENST00000346569.6_Missense_Mutation_p.E89G|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.E116G	p.E89G	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		4	391	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		89					A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	c.266A>G	CCDS953.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.433427	0.43224	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.79554	-1.28;-1.28;-1.28	3.67	3.67	0.42095	.	0.269316	0.26373	N	0.024758	T	0.80747	0.4682	M	0.64997	1.995	0.09310	N	1	D;D;P;D;D;D	0.76494	0.999;0.999;0.921;0.993;0.982;0.993	D;D;P;D;P;D	0.66847	0.947;0.913;0.46;0.911;0.82;0.911	T	0.71712	-0.4510	10	0.87932	D	0	-5.6351	8.9851	0.35988	1.0:0.0:0.0:0.0	.	11;18;116;89;89;89	B7ZAS5;Q16610-3;Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;.;.;ECM1_HUMAN	G	116;89;89	ENSP00000358045:E116G;ENSP00000358043:E89G;ENSP00000271630:E89G	ENSP00000271630:E89G	E	+	2	0	ECM1	148749064	0.011000	0.17503	0.036000	0.18154	0.029000	0.11900	1.667000	0.37471	1.922000	0.55676	0.374000	0.22700	GAA		0.597	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		9	188	0	0	0	0.058154	0	9	188				
PCDHGA3	56112	broad.mit.edu	37	5	140724038	140724038	+	Silent	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr5:140724038G>A	ENST00000253812.6	+	1	438	c.438G>A	c.(436-438)acG>acA	p.T146T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	146	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T146T(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAACTAACGGTTCCTGGAA	0.353																																						ENST00000253812.6																			1	Substitution - coding silent(1)	p.T146T(1)	breast(1)	breast(1)	1						c.(436-438)acG>acA									49.0	48.0	48.0					5																	140724038		1851	4103	5954	SO:0001819	synonymous_variant	0							g.chr5:140724038G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.438G>A	5.37:g.140724038G>A						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.T146T	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	438	+								Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.438G>A	CCDS47290.1																																																																																				0.353	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		78	68	0	0	0	0.139131	0	78	68				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137836	121137836	+	lincRNA	DEL	A	A	-	rs57034034		TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr1:121137836delA	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							GCCGCGGCTTATTCCCCCCAC	0.687																																						ENST00000437515.1																			0																																																			0							g.chr1:121137836delA																													1.37:g.121137836delA														0	329	-									RNA	DEL	ENST00000417218.1	37																																																																																						0.687	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			5	11						5	11	---	---	---	---
AC018359.1	0	broad.mit.edu	37	3	34320590	34320591	+	lincRNA	INS	-	-	TTCT			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr3:34320590_34320591insTTCT	ENST00000424786.1	+	0	159																											tccttccttccttccttccttc	0.391																																						ENST00000424786.1																			0																																																			0							g.chr3:34320590_34320591insTTCT																													3.37:g.34320590_34320591insTTCT														0	159	+									RNA	INS	ENST00000424786.1	37																																																																																						0.391	AC018359.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341538.1			5	8						5	8	---	---	---	---
CTD-2269F5.1	0	broad.mit.edu	37	5	83687394	83687395	+	RNA	DEL	TG	TG	-	rs35820572|rs201187347|rs141528815	byFrequency	TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr5:83687394_83687395delTG	ENST00000502253.1	+	0	599				CTD-2269F5.1_ENST00000514696.1_RNA|CTD-2269F5.1_ENST00000509406.1_RNA|CTD-2269F5.1_ENST00000515688.1_RNA																							AGGCTATCTTtgtgtgtgtgtg	0.282														2895	0.578075	0.6755	0.4121	5008	,	,		12460	0.7063		0.4732	False		,,,				2504	0.5399					ENST00000502253.1																			0																																																			0							g.chr5:83687394_83687395delTG																													5.37:g.83687404_83687405delTG						CTD-2269F5.1_ENST00000514696.1_RNA|CTD-2269F5.1_ENST00000515688.1_RNA|CTD-2269F5.1_ENST00000509406.1_RNA								0	599	+									RNA	DEL	ENST00000502253.1	37																																																																																						0.282	CTD-2269F5.1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000369784.2			4	2						4	2	---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45764989	45764990	+	IGR	DEL	AG	AG	-	rs78521790|rs200089927		TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr7:45764989_45764990delAG	ENST00000297323.7	+	0	12503				SEPT7P2_ENST00000429741.1_RNA	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	agaaaagaaaagggaaggaagg	0.406																																						ENST00000429741.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr7:45764989_45764990delAG	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420		7.37:g.45764989_45764990delAG														0	1730_1731	-								A4D2L8|Q75MI1	RNA	DEL	ENST00000297323.7	37		CCDS34631.1																																																																																				0.406	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		2	4						2	4	---	---	---	---
KRT223P	643115	broad.mit.edu	37	17	38875133	38875134	+	RNA	INS	-	-	T	rs35025693|rs5820358	byFrequency	TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr17:38875133_38875134insT	ENST00000422957.1	-	0	106									keratin 223 pseudogene																		ATGGAAAGTTGTTTTTTTTTTC	0.277													|||unknown(HR)	318	0.0634984	0.1589	0.0548	5008	,	,		19773	0.0139		0.0358	False		,,,				2504	0.0204					ENST00000422957.1																			0																																																			0							g.chr17:38875133_38875134insT			17q21.2	2013-06-25			ENSG00000229028	ENSG00000229028		"""-"""	32968	pseudogene	pseudogene						16831889	Standard	NG_009669		Approved				OTTHUMG00000133585		17.37:g.38875143_38875143dupT														0	106	-									RNA	INS	ENST00000422957.1	37																																																																																						0.277	KRT223P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000257874.1	NG_009669		2	4						2	4	---	---	---	---
PSMD8	5714	broad.mit.edu	37	19	38865398	38865398	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr19:38865398delA	ENST00000215071.4	+	1	223	c.157delA	c.(157-159)aaafs	p.K53fs	PSMD8_ENST00000592035.1_5'Flank|PSMD8_ENST00000602911.1_5'Flank	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	53					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCGCTGCCGTAAATCAGGCGG	0.736																																						ENST00000215071.4																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(157-159)aafs		proteasome (prosome, macropain) 26S subunit, non-ATPase, 8							4.0	5.0	5.0					19																	38865398		2015	4045	6060	SO:0001589	frameshift_variant	5714				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome regulatory particle	protein binding	g.chr19:38865398delA	D38047	CCDS12515.2	19q13.2	2009-05-07			ENSG00000099341	ENSG00000099341		"""Proteasome (prosome, macropain) subunits"""	9566	protein-coding gene	gene with protein product						7621825	Standard	NM_002812		Approved	S14, Nin1p, p31, HIP6, HYPF, Rpn12	uc002oii.4	P48556	OTTHUMG00000150691	ENST00000215071.4:c.157delA	19.37:g.38865398delA	ENSP00000215071:p.Lys53fs					PSMD8_ENST00000602911.1_Intron	p.K53fs	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		1	223	+	all_cancers(60;3.4e-06)		53					B4DX18|Q6P1L7	Frame_Shift_Del	DEL	ENST00000215071.4	37	c.157delA	CCDS12515.2																																																																																				0.736	PSMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319627.1	NM_002812		2	4						2	4	---	---	---	---
