#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
GLRB	2743	broad.mit.edu	37	4	158065079	158065079	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr4:158065079A>G	ENST00000264428.4	+	8	1142	c.872A>G	c.(871-873)aAc>aGc	p.N291S	GLRB_ENST00000509282.1_Missense_Mutation_p.N291S|GLRB_ENST00000541722.1_Missense_Mutation_p.N291S|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	291					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TTCTGGATCAACCCGGACGCG	0.488																																						ENST00000264428.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27						c.(871-873)aAc>aGc		glycine receptor, beta	Glycine(DB00145)						171.0	141.0	151.0					4																	158065079		2203	4300	6503	SO:0001583	missense	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158065079A>G	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.872A>G	4.37:g.158065079A>G	ENSP00000264428:p.Asn291Ser					GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.N291S|GLRB_ENST00000509282.1_Missense_Mutation_p.N291S	p.N291S	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	8	1142	+	all_hematologic(180;0.24)	Renal(120;0.0458)	291					A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	c.872A>G	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	A	18.48	3.633673	0.67130	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	D;D;D	0.87729	-2.29;-2.29;-2.29	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91050	0.7184	L	0.43152	1.355	0.58432	D	0.999999	D	0.57257	0.979	D	0.74023	0.982	D	0.91929	0.5553	10	0.87932	D	0	.	16.3797	0.83452	1.0:0.0:0.0:0.0	.	291	P48167	GLRB_HUMAN	S	291	ENSP00000264428:N291S;ENSP00000441873:N291S;ENSP00000427186:N291S	ENSP00000264428:N291S	N	+	2	0	GLRB	158284529	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	9.270000	0.95690	2.271000	0.75665	0.533000	0.62120	AAC		0.488	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		11	166	0	0	0	0.387290	0	11	166				
KRTCAP3	200634	broad.mit.edu	37	2	27665528	27665528	+	Silent	SNP	C	C	T	rs372394516		TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:27665528C>T	ENST00000543753.1	+	2	158	c.111C>T	c.(109-111)gcC>gcT	p.A37A	KRTCAP3_ENST00000288873.3_Silent_p.A37A|KRTCAP3_ENST00000407293.1_Silent_p.A19A	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	37						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					TGCTGGGGGCCGTGCTGCATG	0.706																																						ENST00000543753.1																			0				large_intestine(1)|lung(2)	3						c.(109-111)gcC>gcT		keratinocyte associated protein 3		C	,	1,4387		0,1,2193	15.0	17.0	16.0		111,111	-1.3	1.0	2		16	0,8584		0,0,4292	no	coding-synonymous,coding-synonymous	KRTCAP3	NM_001168364.1,NM_173853.3	,	0,1,6485	TT,TC,CC		0.0,0.0228,0.0077	,	37/241,37/241	27665528	1,12971	2194	4292	6486	SO:0001819	synonymous_variant	200634					integral to membrane		g.chr2:27665528C>T	AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.111C>T	2.37:g.27665528C>T						KRTCAP3_ENST00000407293.1_Silent_p.A19A|KRTCAP3_ENST00000288873.3_Silent_p.A37A	p.A37A	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN			2	158	+	Acute lymphoblastic leukemia(172;0.155)		37					B7ZL49|Q6UW42|Q8IWS5	Silent	SNP	ENST00000543753.1	37	c.111C>T	CCDS1754.1																																																																																				0.706	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1	NM_173853		12	21	0	0	0	0.457914	0	12	21				
GGT3P	2679	broad.mit.edu	37	22	18778640	18778640	+	RNA	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr22:18778640T>C	ENST00000412448.1	-	0	765							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										GGTTGTCAGGTTCCTTGGAGG	0.632																																						ENST00000412448.1																			0																																																			0							g.chr22:18778640T>C			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778640T>C														0	765	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.632	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		4	28	0	0	0	0.217242	0	4	28				
RGPD4	285190	broad.mit.edu	37	2	108496508	108496508	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:108496508A>T	ENST00000408999.3	+	21	5086	c.5009A>T	c.(5008-5010)aAc>aTc	p.N1670I	RGPD4_ENST00000354986.4_Missense_Mutation_p.N1670I	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1670					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GATCACTTAAACGGCCTGCTT	0.453																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(5008-5010)aAc>aTc		RANBP2-like and GRIP domain containing 4							163.0	136.0	144.0					2																	108496508		692	1591	2283	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108496508A>T	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.5009A>T	2.37:g.108496508A>T	ENSP00000386810:p.Asn1670Ile					RGPD4_ENST00000354986.4_Missense_Mutation_p.N1670I	p.N1670I	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			21	5086	+			1670					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.5009A>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	a	8.364	0.833727	0.16820	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.40476	1.03;1.03	0.854	-0.379	0.12493	.	.	.	.	.	T	0.28499	0.0705	L	0.40543	1.245	0.24770	N	0.992875	B	0.27498	0.18	B	0.23275	0.045	T	0.20107	-1.0285	9	0.51188	T	0.08	-5.0008	4.6074	0.12385	0.5863:0.0:0.4137:0.0	.	1670	Q7Z3J3	RGPD4_HUMAN	I	1670;1670;1037	ENSP00000347081:N1670I;ENSP00000386810:N1670I	ENSP00000347081:N1670I	N	+	2	0	RGPD4	107862940	1.000000	0.71417	0.969000	0.41365	0.821000	0.46438	3.742000	0.55097	-0.138000	0.11434	0.327000	0.21459	AAC		0.453	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		16	275	0	0	0	0.539581	0	16	275				
OR6F1	343169	broad.mit.edu	37	1	247875530	247875530	+	Missense_Mutation	SNP	G	G	T	rs144069302		TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:247875530G>T	ENST00000302084.2	-	1	575	c.528C>A	c.(526-528)caC>caA	p.H176Q	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CACAGAAGAAGTGGTTGATGG	0.577																																						ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(526-528)caC>caA		olfactory receptor, family 6, subfamily F, member 1							93.0	96.0	95.0					1																	247875530		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875530G>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.528C>A	1.37:g.247875530G>T	ENSP00000305640:p.His176Gln					RP11-634B7.4_ENST00000449298.1_RNA	p.H176Q	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	575	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		176					B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.528C>A	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702538	0.48307	.	.	ENSG00000169214	ENST00000302084	T	0.00084	8.75	3.99	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000318	T	0.00356	0.0011	M	0.78344	2.41	0.32817	D	0.502266	D	0.89917	1.0	D	0.87578	0.998	T	0.49872	-0.8893	10	0.87932	D	0	-38.7917	3.802	0.08761	0.2034:0.2189:0.5777:0.0	.	176	Q8NGZ6	OR6F1_HUMAN	Q	176	ENSP00000305640:H176Q	ENSP00000305640:H176Q	H	-	3	2	OR6F1	245942153	0.043000	0.20138	1.000000	0.80357	0.617000	0.37484	-0.942000	0.03921	2.209000	0.71365	0.591000	0.81541	CAC		0.577	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		6	166	1	0	0.00198382	0.248553	0.00229165	6	166				
LRIT1	26103	broad.mit.edu	37	10	86001161	86001161	+	Missense_Mutation	SNP	G	G	A	rs539561651		TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr10:86001161G>A	ENST00000372105.3	-	1	56	c.35C>T	c.(34-36)gCc>gTc	p.A12V		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	12						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCACGCAAGGGCCAAGAGCCA	0.677																																						ENST00000372105.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(34-36)gCc>gTc		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1							18.0	19.0	19.0					10																	86001161		2199	4299	6498	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:86001161G>A	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.35C>T	10.37:g.86001161G>A	ENSP00000361177:p.Ala12Val						p.A12V	NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN			1	56	-			12					Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.35C>T	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322818	0.23994	.	.	ENSG00000148602	ENST00000372105	T	0.36157	1.27	4.46	0.422	0.16457	.	0.273612	0.35407	N	0.003227	T	0.28134	0.0694	M	0.70903	2.155	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.25916	-1.0118	10	0.12766	T	0.61	.	4.9233	0.13880	0.4452:0.1535:0.4013:0.0	.	12	Q9P2V4	LRIT1_HUMAN	V	12	ENSP00000361177:A12V	ENSP00000361177:A12V	A	-	2	0	LRIT1	85991141	0.004000	0.15560	0.903000	0.35520	0.685000	0.39939	0.244000	0.18124	0.152000	0.19188	0.491000	0.48974	GCC		0.677	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		6	19	0	0	0	0.278610	0	6	19				
DGKH	160851	broad.mit.edu	37	13	42763202	42763202	+	Silent	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr13:42763202C>T	ENST00000337343.4	+	15	1690	c.1669C>T	c.(1669-1671)Ctg>Ttg	p.L557L	DGKH_ENST00000538674.1_Silent_p.L312L|DGKH_ENST00000379274.2_Silent_p.L421L|DGKH_ENST00000536612.1_Silent_p.L421L|DGKH_ENST00000540693.1_Silent_p.L557L|DGKH_ENST00000261491.5_Silent_p.L557L|DGKH_ENST00000498255.2_3'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	557					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GCTCGAACAACTGCTGCAGGC	0.463																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1261-1263)Ctg>Ttg		diacylglycerol kinase, eta							59.0	61.0	61.0					13																	42763202		2203	4300	6503	SO:0001819	synonymous_variant	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42763202C>T	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1669C>T	13.37:g.42763202C>T						DGKH_ENST00000536612.1_Silent_p.L421L|DGKH_ENST00000337343.4_Silent_p.L557L|DGKH_ENST00000261491.4_Silent_p.L557L|DGKH_ENST00000540693.1_Silent_p.L557L|DGKH_ENST00000538674.1_Silent_p.L312L|DGKH_ENST00000498255.2_3'UTR	p.L421L			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	15	1690	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	557			DAGKc.		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Silent	SNP	ENST00000337343.4	37	c.1261C>T	CCDS9381.1																																																																																				0.463	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		6	112	0	0	0	0.278610	0	6	112				
EIF3L	51386	broad.mit.edu	37	22	38271891	38271891	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr22:38271891A>G	ENST00000412331.2	+	10	1532	c.950A>G	c.(949-951)tAt>tGt	p.Y317C	EIF3L_ENST00000381683.6_Missense_Mutation_p.Y269C|EIF3L_ENST00000406934.1_Missense_Mutation_p.Y219C	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ACCACATACTATTATGTTGGG	0.468																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(949-951)tAt>tGt		eukaryotic translation initiation factor 3, subunit L							222.0	209.0	213.0					22																	38271891		2203	4300	6503	SO:0001583	missense	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38271891A>G	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.950A>G	22.37:g.38271891A>G	ENSP00000416892:p.Tyr317Cys					EIF3L_ENST00000406934.1_Missense_Mutation_p.Y219C|EIF3L_ENST00000381683.6_Missense_Mutation_p.Y269C	p.Y317C	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN			10	1532	+			317						Missense_Mutation	SNP	ENST00000412331.2	37	c.950A>G	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912589	0.72983	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.61742	0.08;0.08;0.08	4.75	4.75	0.60458	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81541	0.4844	M	0.93854	3.465	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86830	0.2010	10	0.87932	D	0	-14.2509	14.5772	0.68258	1.0:0.0:0.0:0.0	.	269;219;317;360	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	C	317;360;269;284;219	ENSP00000416892:Y317C;ENSP00000371099:Y269C;ENSP00000384634:Y219C	ENSP00000262832:Y284C	Y	+	2	0	EIF3L	36601837	1.000000	0.71417	0.955000	0.39395	0.731000	0.41821	9.165000	0.94761	1.902000	0.55061	0.379000	0.24179	TAT		0.468	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		5	348	0	0	0	0.217242	0	5	348				
RPL23AP82	284942	broad.mit.edu	37	22	51237140	51237140	+	RNA	SNP	G	G	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr22:51237140G>C	ENST00000480246.1	+	0	390					NR_026982.1																						CAAAGCGAAGGCTTTAAAGGC	0.463																																						ENST00000480246.1																			0																																																			0							g.chr22:51237140G>C																													22.37:g.51237140G>C								NR_026982.1						0	390	+									RNA	SNP	ENST00000480246.1	37																																																																																						0.463	AC002055.4-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316621.1			7	78	0	0	0	0.361761	0	7	78				
STIL	6491	broad.mit.edu	37	1	47728685	47728685	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:47728685C>A	ENST00000360380.3	-	16	3079	c.2716G>T	c.(2716-2718)Ggg>Tgg	p.G906W	STIL_ENST00000371877.3_Missense_Mutation_p.G907W|STIL_ENST00000396221.2_Missense_Mutation_p.G889W|STIL_ENST00000337817.5_Missense_Mutation_p.G906W|STIL_ENST00000243182.6_Missense_Mutation_p.G906W	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	906					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTGGCACCCCCTGTTGGTCCA	0.428																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(2716-2718)Ggg>Tgg		SCL/TAL1 interrupting locus							181.0	159.0	167.0					1																	47728685		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47728685C>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.2716G>T	1.37:g.47728685C>A	ENSP00000353544:p.Gly906Trp					STIL_ENST00000243182.6_Missense_Mutation_p.G906W|STIL_ENST00000396221.2_Missense_Mutation_p.G889W|STIL_ENST00000371877.3_Missense_Mutation_p.G907W|STIL_ENST00000337817.5_Missense_Mutation_p.G906W	p.G906W			Q15468	STIL_HUMAN			16	3079	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	906					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.2716G>T	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541536	0.85917	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.46063	2.18;2.18;2.18;2.15;2.18;0.88	5.83	5.83	0.93111	.	0.267862	0.38164	N	0.001783	T	0.44138	0.1279	N	0.08118	0	0.31302	N	0.688171	D;D;D;D;D	0.56968	0.978;0.978;0.978;0.978;0.978	P;P;P;P;P	0.61477	0.889;0.841;0.889;0.889;0.841	T	0.53947	-0.8366	10	0.72032	D	0.01	-9.427	17.8927	0.88877	0.0:1.0:0.0:0.0	.	889;842;889;907;906	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	W	906;906;907;889;906;842	ENSP00000353544:G906W;ENSP00000337367:G906W;ENSP00000360944:G907W;ENSP00000379523:G889W;ENSP00000243182:G906W;ENSP00000411664:G842W	ENSP00000243182:G906W	G	-	1	0	STIL	47501272	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.810000	0.62598	2.747000	0.94245	0.585000	0.79938	GGG		0.428	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		4	179	1	0	0.150653	0.150653	0.165472	4	179				
ACOT2	10965	broad.mit.edu	37	14	74036497	74036497	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr14:74036497A>G	ENST00000238651.5	+	1	735	c.553A>G	c.(553-555)Acg>Gcg	p.T185A	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	185					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.T185A(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GCTGTGCCAGACGCGGCACGA	0.736																																						ENST00000238651.5																			1	Substitution - Missense(1)	p.T185A(1)	lung(1)	breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(553-555)Acg>Gcg		acyl-CoA thioesterase 2							8.0	8.0	8.0					14																	74036497		1966	3905	5871	SO:0001583	missense	10965				acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	g.chr14:74036497A>G	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.553A>G	14.37:g.74036497A>G	ENSP00000238651:p.Thr185Ala					ACOT2_ENST00000538782.1_Intron	p.T185A	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)	1	735	+			185					Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	ENST00000238651.5	37	c.553A>G	CCDS9816.1	.	.	.	.	.	.	.	.	.	.	a	0.005	-2.126007	0.00342	.	.	ENSG00000119673	ENST00000238651	T	0.69040	-0.37	3.38	0.388	0.16264	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.564702	0.18389	N	0.142713	T	0.27765	0.0683	N	0.01081	-1.03	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	10	0.02654	T	1	-2.5748	8.7631	0.34687	0.3703:0.0:0.6297:0.0	.	185	P49753	ACOT2_HUMAN	A	185	ENSP00000238651:T185A	ENSP00000238651:T185A	T	+	1	0	ACOT2	73106250	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.502000	0.22594	-0.539000	0.06273	-1.945000	0.00491	ACG		0.736	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1	NM_006821		2	0	0	0	0	0.115264	0	2	0				
SYNPO2L	79933	broad.mit.edu	37	10	75406654	75406654	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr10:75406654A>G	ENST00000394810.2	-	4	2905	c.2756T>C	c.(2755-2757)aTc>aCc	p.I919T	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.I695T	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	919	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TGTTCTCCAGATGGGCTCATC	0.652																																						ENST00000394810.2																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2755-2757)aTc>aCc		synaptopodin 2-like							46.0	45.0	46.0					10																	75406654		2203	4300	6503	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406654A>G	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2756T>C	10.37:g.75406654A>G	ENSP00000378289:p.Ile919Thr					SYNPO2L_ENST00000372873.4_Missense_Mutation_p.I695T|SYNPO2L_ENST00000372872.4_Intron	p.I919T	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	2905	-	Prostate(51;0.0112)		919			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2756T>C	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.310783	0.40895	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.22539	1.95;2.27	4.93	4.93	0.64822	.	0.332641	0.28983	N	0.013502	T	0.13670	0.0331	N	0.24115	0.695	0.29093	N	0.88199	B;B	0.33637	0.296;0.42	B;B	0.32928	0.074;0.155	T	0.09100	-1.0690	10	0.09338	T	0.73	-12.9654	14.7518	0.69530	1.0:0.0:0.0:0.0	.	919;695	Q9H987;Q9H987-2	SYP2L_HUMAN;.	T	695;919	ENSP00000361964:I695T;ENSP00000378289:I919T	ENSP00000361964:I695T	I	-	2	0	SYNPO2L	75076660	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	4.103000	0.57783	2.059000	0.61396	0.459000	0.35465	ATC		0.652	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		30	40	0	0	0	0.796494	0	30	40				
WDR18	57418	broad.mit.edu	37	19	991974	991974	+	Silent	SNP	C	C	T	rs372173878		TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr19:991974C>T	ENST00000251289.5	+	8	974	c.951C>T	c.(949-951)gcC>gcT	p.A317A	WDR18_ENST00000587001.2_Silent_p.A317A	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	317					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAATGCCGCCATCCTGCTGG	0.711																																						ENST00000251289.5																			0				endometrium(1)|kidney(2)|lung(2)|skin(2)	7						c.(949-951)gcC>gcT		WD repeat domain 18		C		0,4228		0,0,2114	9.0	10.0	10.0		951	3.4	0.2	19		10	2,8288		0,2,4143	no	coding-synonymous	WDR18	NM_024100.3		0,2,6257	TT,TC,CC		0.0241,0.0,0.016		317/433	991974	2,12516	2114	4145	6259	SO:0001819	synonymous_variant	57418							g.chr19:991974C>T		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"""WD repeat domain containing"""	17956	protein-coding gene	gene with protein product	"""Involved in Processing ITS2 3 homolog (S. cerevisiae)"""					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.951C>T	19.37:g.991974C>T						WDR18_ENST00000587001.2_Silent_p.A317A	p.A317A	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	974	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	317					O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	37	c.951C>T	CCDS12051.1																																																																																				0.711	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			3	9	0	0	0	0.115264	0	3	9				
C16orf71	146562	broad.mit.edu	37	16	4786629	4786629	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr16:4786629C>G	ENST00000299320.5	+	2	592	c.114C>G	c.(112-114)gaC>gaG	p.D38E	ANKS3_ENST00000304283.4_5'Flank|C16orf71_ENST00000590191.1_Missense_Mutation_p.D38E|ANKS3_ENST00000450067.2_5'Flank|ANKS3_ENST00000585773.1_5'Flank|RP11-127I20.7_ENST00000588099.1_RNA|ANKS3_ENST00000592711.1_5'Flank	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	38										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CGTCTCTGGACTCAGACTCCC	0.592																																						ENST00000299320.5																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(112-114)gaC>gaG		chromosome 16 open reading frame 71							96.0	86.0	89.0					16																	4786629		2197	4300	6497	SO:0001583	missense	146562							g.chr16:4786629C>G	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.114C>G	16.37:g.4786629C>G	ENSP00000299320:p.Asp38Glu					RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.D38E	p.D38E	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN			2	592	+			38					Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	c.114C>G	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418293	0.62622	.	.	ENSG00000166246	ENST00000299320	T	0.12147	2.71	3.97	3.0	0.34707	.	0.000000	0.53938	D	0.000060	T	0.28400	0.0702	L	0.55481	1.735	0.25585	N	0.986754	D	0.76494	0.999	D	0.87578	0.998	T	0.01516	-1.1335	10	0.87932	D	0	-22.5426	9.0542	0.36394	0.0:0.892:0.0:0.108	.	38	Q8IYS4	CP071_HUMAN	E	38	ENSP00000299320:D38E	ENSP00000299320:D38E	D	+	3	2	C16orf71	4726630	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	0.684000	0.25364	1.231000	0.43661	0.655000	0.94253	GAC		0.592	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		6	138	0	0	0	0.217242	0	6	138				
LRRC37BP1	147172	broad.mit.edu	37	17	28964168	28964168	+	RNA	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr17:28964168G>A	ENST00000417404.1	+	0	4426									leucine rich repeat containing 37B pseudogene 1																		TCATCGGGTAGATGAGACTTA	0.368																																						ENST00000417404.1																			0																																																			0							g.chr17:28964168G>A	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28964168G>A						SMURF2P1_ENST00000578265.1_RNA								0	4426	+									RNA	SNP	ENST00000417404.1	37																																																																																						0.368	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		22	16	0	0	0	0.608945	0	22	16				
TMED5	50999	broad.mit.edu	37	1	93646284	93646284	+	5'UTR	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:93646284T>C	ENST00000370282.3	-	0	1				CCDC18_ENST00000401026.3_5'UTR|TMED5_ENST00000370280.1_5'Flank|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.F66S|TMED5_ENST00000479918.1_5'Flank|CCDC18_ENST00000343253.7_Intron	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5						Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		CCGCGGCGGTTCGAATTCTGT	0.706																																						ENST00000557479.1																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(196-198)tTc>tCc		coiled-coil domain containing 18							13.0	19.0	17.0					1																	93646284		1888	4098	5986	SO:0001623	5_prime_UTR_variant	343099							g.chr1:93646284T>C	BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.-485A>G	1.37:g.93646284T>C						CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000401026.3_5'UTR|TMED5_ENST00000370282.3_5'UTR	p.F66S	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	1	365	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	0					B1AKT4|B2R703|D3DT38|Q96AX8	Missense_Mutation	SNP	ENST00000370282.3	37	c.197T>C	CCDS743.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.69|13.69	2.312035|2.312035	0.40895|0.40895	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000557479|ENST00000370276	.|.	.|.	.|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|.	.|.	.|.	.|.	T|T	0.52322|0.52322	0.1727|0.1727	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.64830|.	0.994|.	P|.	0.54924|.	0.764|.	T|T	0.53753|0.53753	-0.8394|-0.8394	7|4	0.87932|.	D|.	0|.	.|.	11.1328|11.1328	0.48358|0.48358	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	66|.	G3V388|.	.|.	S|P	66|2	.|.	ENSP00000383808:F66S|.	F|S	+|+	2|1	0|0	CCDC18|CCDC18	93418872|93418872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.027000|0.027000	0.11550|0.11550	3.185000|3.185000	0.50934|0.50934	2.192000|2.192000	0.70111|0.70111	0.459000|0.459000	0.35465|0.35465	TTC|TCG		0.706	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028076.3	NM_016040		2	14	0	0	0	0.115264	0	2	14				
CDC20B	166979	broad.mit.edu	37	5	54436230	54436230	+	Silent	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr5:54436230G>A	ENST00000381375.2	-	5	637	c.492C>T	c.(490-492)tgC>tgT	p.C164C	CDC20B_ENST00000334206.5_Silent_p.C164C|CDC20B_ENST00000296733.1_Silent_p.C164C|CDC20B_ENST00000331730.3_Silent_p.C143C|CDC20B_ENST00000322374.6_Silent_p.C164C			Q86Y33	CD20B_HUMAN	cell division cycle 20B	164										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GTTGTTTTAGGCATTTCTGAA	0.333																																						ENST00000334206.5																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(490-492)tgC>tgT		cell division cycle 20B							94.0	84.0	88.0					5																	54436230		2203	4300	6503	SO:0001819	synonymous_variant	166979							g.chr5:54436230G>A	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.492C>T	5.37:g.54436230G>A						CDC20B_ENST00000322374.6_Silent_p.C164C|CDC20B_ENST00000331730.3_Silent_p.C143C|CDC20B_ENST00000296733.1_Silent_p.C164C|CDC20B_ENST00000381375.2_Silent_p.C164C	p.C164C			Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		5	668	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	164					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Silent	SNP	ENST00000381375.2	37	c.492C>T	CCDS54852.1																																																																																				0.333	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		26	63	0	0	0	0.693898	0	26	63				
SLC9A4	389015	broad.mit.edu	37	2	103149082	103149082	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:103149082A>G	ENST00000295269.4	+	12	2789	c.2332A>G	c.(2332-2334)Aca>Gca	p.T778A		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	778					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GTCGAGGTGGACAGCTGACCA	0.502																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2332-2334)Aca>Gca		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							79.0	50.0	60.0					2																	103149082		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103149082A>G		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2332A>G	2.37:g.103149082A>G	ENSP00000295269:p.Thr778Ala						p.T778A	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			12	2789	+			778					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.2332A>G	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.497360	0.26861	.	.	ENSG00000180251	ENST00000295269	T	0.43688	0.94	5.31	1.5	0.22942	.	0.351810	0.29369	N	0.012348	T	0.21103	0.0508	L	0.27053	0.805	0.27206	N	0.960035	B	0.16603	0.018	B	0.14023	0.01	T	0.27434	-1.0074	10	0.06494	T	0.89	.	5.4417	0.16513	0.4952:0.1276:0.0:0.3773	.	778	Q6AI14	SL9A4_HUMAN	A	778	ENSP00000295269:T778A	ENSP00000295269:T778A	T	+	1	0	SLC9A4	102515514	0.678000	0.27586	0.137000	0.22149	0.131000	0.20780	0.565000	0.23578	0.067000	0.16545	0.533000	0.62120	ACA		0.502	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		13	23	0	0	0	0.457914	0	13	23				
CENPF	1063	broad.mit.edu	37	1	214832292	214832292	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:214832292C>T	ENST00000366955.3	+	19	9230	c.9062C>T	c.(9061-9063)gCg>gTg	p.A3021V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3117	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAGAAGTTAGCGCTATCCCCA	0.527											OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(9061-9063)gCg>gTg		centromere protein F, 350/400kDa							110.0	111.0	111.0					1																	214832292		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214832292C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.9062C>T	1.37:g.214832292C>T	ENSP00000355922:p.Ala3021Val		OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2224		p.A3021V	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	19	9230	+			3117			Sufficient for centromere localization.|Sufficient for nuclear localization.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.9062C>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	9.873	1.199575	0.22121	.	.	ENSG00000117724	ENST00000366955	T	0.03524	3.9	5.3	2.41	0.29592	.	0.444083	0.16666	N	0.204593	T	0.04318	0.0119	L	0.43152	1.355	0.09310	N	1	B	0.18968	0.032	B	0.08055	0.003	T	0.32719	-0.9896	10	0.87932	D	0	.	9.4007	0.38431	0.0:0.7743:0.0:0.2257	.	3117	P49454	CENPF_HUMAN	V	3021	ENSP00000355922:A3021V	ENSP00000355922:A3021V	A	+	2	0	CENPF	212898915	0.001000	0.12720	0.000000	0.03702	0.217000	0.24651	1.054000	0.30455	0.323000	0.23307	-0.136000	0.14681	GCG		0.527	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		4	198	0	0	0	0.217242	0	4	198				
PRKRA	8575	broad.mit.edu	37	2	179314991	179314991	+	Silent	SNP	G	G	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:179314991G>T	ENST00000325748.4	-	2	413	c.213C>A	c.(211-213)acC>acA	p.T71T	PRKRA_ENST00000432031.2_Silent_p.T60T|DFNB59_ENST00000409117.3_5'Flank|PRKRA_ENST00000438687.3_5'UTR|PRKRA_ENST00000470200.1_5'UTR|PRKRA_ENST00000487082.1_Silent_p.T46T	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	71	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TGTCACCAACGGTTACTCTGA	0.438																																					Melanoma(200;68 3001 23825 48764)	ENST00000325748.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(211-213)acC>acA		protein kinase, interferon-inducible double stranded RNA dependent activator							262.0	266.0	265.0					2																	179314991		2203	4300	6503	SO:0001819	synonymous_variant	8575				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity	g.chr2:179314991G>T	AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.213C>A	2.37:g.179314991G>T						PRKRA_ENST00000438687.3_5'UTR|PRKRA_ENST00000432031.2_Silent_p.T60T|PRKRA_ENST00000487082.1_Silent_p.T46T|PRKRA_ENST00000470200.1_5'UTR	p.T71T	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)		2	413	-			71			DRBM 1.|Sufficient for self-association and interaction with TARBP2.		A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Silent	SNP	ENST00000325748.4	37	c.213C>A	CCDS2279.1																																																																																				0.438	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690		4	324	1	0	0.150653	0.150653	0.165472	4	324				
USP51	158880	broad.mit.edu	37	X	55514658	55514658	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:55514658A>G	ENST00000500968.3	-	2	797	c.715T>C	c.(715-717)Tgt>Cgt	p.C239R	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	239					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TGGGTACTACATACGTGACAG	0.453																																						ENST00000500968.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(715-717)Tgt>Cgt		ubiquitin specific peptidase 51							150.0	129.0	136.0					X																	55514658		2203	4300	6503	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55514658A>G	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.715T>C	X.37:g.55514658A>G	ENSP00000423333:p.Cys239Arg					USP51_ENST00000586165.1_Intron	p.C239R	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN			2	797	-			239					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.715T>C	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	15.70	2.912403	0.52439	.	.	ENSG00000247746	ENST00000500968	T	0.74737	-0.87	3.08	3.08	0.35506	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.413995	0.26700	U	0.022957	D	0.86802	0.6020	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87726	0.2576	10	0.87932	D	0	.	8.9283	0.35655	1.0:0.0:0.0:0.0	.	239	Q70EK9	UBP51_HUMAN	R	239	ENSP00000423333:C239R	ENSP00000423333:C239R	C	-	1	0	USP51	55531383	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.495000	0.81514	1.456000	0.47831	0.408000	0.27601	TGT		0.453	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		42	70	0	0	0	0.840704	0	42	70				
DNAH8	1769	broad.mit.edu	37	6	38885723	38885723	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:38885723T>C	ENST00000359357.3	+	68	9934	c.9680T>C	c.(9679-9681)cTg>cCg	p.L3227P	DNAH8_ENST00000449981.2_Missense_Mutation_p.L3444P|DNAH8_ENST00000441566.1_Missense_Mutation_p.L3191P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3227	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACAGGATTCCTGTGGAGCCTT	0.343																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(9679-9681)cTg>cCg		dynein, axonemal, heavy chain 8							58.0	63.0	61.0					6																	38885723		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38885723T>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9680T>C	6.37:g.38885723T>C	ENSP00000352312:p.Leu3227Pro					DNAH8_ENST00000441566.1_Missense_Mutation_p.L3191P|DNAH8_ENST00000449981.2_Missense_Mutation_p.L3444P	p.L3227P							68	9934	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.9680T>C		.	.	.	.	.	.	.	.	.	.	T	19.17	3.776436	0.70107	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	D;D;D	0.81908	-1.55;-1.55;-1.55	5.82	5.82	0.92795	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.64402	D	0.000002	D	0.93825	0.8025	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95900	0.8914	10	0.87932	D	0	.	16.1806	0.81895	0.0:0.0:0.0:1.0	.	3227	Q96JB1	DYH8_HUMAN	P	3432;3432;3227;3191	ENSP00000333363:L3432P;ENSP00000352312:L3227P;ENSP00000402294:L3191P	ENSP00000333363:L3432P	L	+	2	0	DNAH8	38993701	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.029000	0.76477	2.221000	0.72209	0.528000	0.53228	CTG		0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		3	124	0	0	0	0.115264	0	3	124				
TBC1D9	23158	broad.mit.edu	37	4	141578954	141578954	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr4:141578954T>C	ENST00000442267.2	-	12	2008	c.1934A>G	c.(1933-1935)gAc>gGc	p.D645G		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	645	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GACACCTTGGTCCACCAGTGC	0.502																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(1933-1935)gAc>gGc		TBC1 domain family, member 9 (with GRAM domain)							179.0	175.0	177.0					4																	141578954		2120	4242	6362	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141578954T>C	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1934A>G	4.37:g.141578954T>C	ENSP00000411197:p.Asp645Gly						p.D645G	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			12	2008	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	645			Rab-GAP TBC.		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.1934A>G	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.744557	0.89663	.	.	ENSG00000109436	ENST00000442267	T	0.24538	1.85	5.63	5.63	0.86233	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79055	-0.1960	10	0.87932	D	0	-12.2754	15.8552	0.78972	0.0:0.0:0.0:1.0	.	645	Q6ZT07	TBCD9_HUMAN	G	645	ENSP00000411197:D645G	ENSP00000411197:D645G	D	-	2	0	TBC1D9	141798404	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.991000	0.88244	2.141000	0.66446	0.528000	0.53228	GAC		0.502	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		96	154	0	0	0	0.870114	0	96	154				
ZNF41	7592	broad.mit.edu	37	X	47307253	47307253	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:47307253T>G	ENST00000377065.4	-	5	2555	c.1916A>C	c.(1915-1917)gAc>gCc	p.D639A	ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.D649A|ZNF41_ENST00000313116.7_Missense_Mutation_p.D639A	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	681					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TTTCCCACAGTCGCTGCATTC	0.468																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(1915-1917)gAc>gCc		zinc finger protein 41							93.0	79.0	84.0					X																	47307253		2203	4300	6503	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47307253T>G	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1916A>C	X.37:g.47307253T>G	ENSP00000366265:p.Asp639Ala					ZNF41_ENST00000313116.7_Missense_Mutation_p.D639A|ZNF41_ENST00000397050.2_Missense_Mutation_p.D649A	p.D639A	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			5	2555	-		all_lung(315;0.000129)	681					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.1916A>C	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595076	0.46318	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.56103	0.48;0.48;0.48	3.69	3.69	0.42338	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37348	N	0.002125	T	0.45135	0.1327	N	0.20881	0.62	0.20764	N	0.999852	P;P;P;P;P	0.47841	0.879;0.879;0.655;0.879;0.901	P;P;B;P;P	0.49361	0.473;0.473;0.337;0.473;0.608	T	0.34551	-0.9824	10	0.62326	D	0.03	.	9.9233	0.41476	0.0:0.0:0.0:1.0	.	639;641;649;673;681	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	A	639;639;649	ENSP00000315173:D639A;ENSP00000366265:D639A;ENSP00000380243:D649A	ENSP00000315173:D639A	D	-	2	0	ZNF41	47192197	0.007000	0.16637	0.996000	0.52242	0.868000	0.49771	1.597000	0.36729	1.700000	0.51204	0.486000	0.48141	GAC		0.468	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		3	130	0	0	0	0.115264	0	3	130				
HLA-DRA	3122	broad.mit.edu	37	6	32410420	32410420	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:32410420C>A	ENST00000374982.5	+	2	351	c.278C>A	c.(277-279)gCc>gAc	p.A93D	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.A93D			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	93	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GTGGACAAAGCCAACCTGGAA	0.493									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																													ENST00000395388.2																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(277-279)gCc>gAc		major histocompatibility complex, class II, DR alpha							213.0	200.0	205.0					6																	32410420		1511	2709	4220	SO:0001583	missense	3122	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32410420C>A		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.278C>A	6.37:g.32410420C>A	ENSP00000364121:p.Ala93Asp					HLA-DRA_ENST00000374982.5_Missense_Mutation_p.A93D	p.A93D	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN			2	387	+			93			Alpha-1.		A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37	c.278C>A		.	.	.	.	.	.	.	.	.	.	.	17.88	3.496990	0.64186	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.00760	5.73;5.73	5.38	4.52	0.55395	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.908722	0.09649	N	0.773952	T	0.01489	0.0048	M	0.69463	2.115	0.31368	N	0.680485	D;D	0.64830	0.994;0.988	D;D	0.69654	0.965;0.918	T	0.50849	-0.8779	10	0.49607	T	0.09	.	9.7988	0.40751	0.0:0.9082:0.0:0.0918	.	93;93	Q30118;P01903	.;DRA_HUMAN	D	93	ENSP00000378786:A93D;ENSP00000364121:A93D	ENSP00000364121:A93D	A	+	2	0	HLA-DRA	32518398	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.508000	0.35769	1.523000	0.49018	0.638000	0.83543	GCC		0.493	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111		80	147	1	0	2.08937e-45	0.870114	2.59237e-45	80	147				
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr17:7577114C>A	ENST00000269305.4	-	8	1013	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000420246.2_Missense_Mutation_p.C275F|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C275F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGACAGGCACAAACACGCAC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM076568|CM951234	TP53	M		c.(823-825)tGt>tTt	Other conserved DNA damage response genes	tumor protein p53							71.0	61.0	64.0					17																	7577114		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577114C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.824G>T	17.37:g.7577114C>A	ENSP00000269305:p.Cys275Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000269305.4_Missense_Mutation_p.C275F|TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000445888.2_Missense_Mutation_p.C275F	p.C275F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	956	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	275		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.824G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536533	0.85812	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.97110	0.993;1.0;0.993;0.993	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	F	275;275;275;275;275;264;143	ENSP00000352610:C275F;ENSP00000269305:C275F;ENSP00000398846:C275F;ENSP00000391127:C275F;ENSP00000391478:C275F;ENSP00000425104:C143F	ENSP00000269305:C275F	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		52	11	1	0	1.17475e-09	0.870114	1.43106e-09	52	11				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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			33	70	0	0	0	0.769981	0	33	70				
PDE1C	5137	broad.mit.edu	37	7	31877484	31877484	+	Splice_Site	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr7:31877484G>A	ENST00000396191.1	-	10	1537	c.1082C>T	c.(1081-1083)gCc>gTc	p.A361V	PDE1C_ENST00000396182.2_Splice_Site_p.A361V|PDE1C_ENST00000396193.1_Splice_Site_p.A421V|PDE1C_ENST00000396184.3_Splice_Site_p.A361V|PDE1C_ENST00000321453.7_Splice_Site_p.A361V	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	361	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GCACACTTACGCTTCTGGCTG	0.428																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.e11+1		phosphodiesterase 1C, calmodulin-dependent 70kDa							164.0	157.0	159.0					7																	31877484		2203	4300	6503	SO:0001630	splice_region_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31877484G>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1082+1C>T	7.37:g.31877484G>A						PDE1C_ENST00000396191.1_Splice_Site_p.A361_splice|PDE1C_ENST00000396193.1_Splice_Site_p.A421_splice|PDE1C_ENST00000321453.7_Splice_Site_p.A361_splice|PDE1C_ENST00000396182.2_Splice_Site_p.A361_splice	p.A361_splice	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		11	1286	-			361			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Splice_Site	SNP	ENST00000396191.1	37	c.1082_splice	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.484068	0.63962	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	5.53	3.62	0.41486	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.249731	0.46145	N	0.000313	T	0.62295	0.2416	L	0.28504	0.86	0.42711	D	0.993648	P;P;P	0.52061	0.651;0.657;0.95	B;B;B	0.42798	0.378;0.342;0.398	T	0.59862	-0.7374	9	.	.	.	.	4.5311	0.12006	0.0839:0.267:0.522:0.127	.	361;421;361	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	V	421;361;361;361;361	ENSP00000379496:A421V;ENSP00000379494:A361V;ENSP00000318105:A361V;ENSP00000379487:A361V;ENSP00000379485:A361V	.	A	-	2	0	PDE1C	31844009	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.816000	0.55658	1.339000	0.45563	0.655000	0.94253	GCC		0.428	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		Missense_Mutation	86	248	0	0	0	0.870114	0	86	248				
MYL10	93408	broad.mit.edu	37	7	101256959	101256959	+	Missense_Mutation	SNP	G	G	T	rs141873317	byFrequency	TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr7:101256959G>T	ENST00000223167.4	-	7	742	c.565C>A	c.(565-567)Cgc>Agc	p.R189S		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	189	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TCACTGAAGCGGTCTGCCTGG	0.552													G|||	9	0.00179712	0.0	0.0	5008	,	,		18671	0.0		0.0	False		,,,				2504	0.0092				Esophageal Squamous(24;575 709 17516 40384 51639)	ENST00000223167.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						c.(565-567)Cgc>Agc		myosin, light chain 10, regulatory							153.0	129.0	137.0					7																	101256959		2203	4300	6503	SO:0001583	missense	93408					mitochondrion	calcium ion binding	g.chr7:101256959G>T	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.565C>A	7.37:g.101256959G>T	ENSP00000223167:p.Arg189Ser						p.R189S	NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN			7	742	-			189			EF-hand 2.			Missense_Mutation	SNP	ENST00000223167.4	37	c.565C>A	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277974	0.59758	.	.	ENSG00000106436	ENST00000223167	T	0.78481	-1.18	4.28	2.37	0.29283	EF-hand-like domain (1);	0.093411	0.42420	D	0.000716	D	0.86130	0.5859	M	0.80028	2.48	0.42839	D	0.994046	D	0.65815	0.995	D	0.68621	0.959	D	0.86018	0.1505	10	0.87932	D	0	.	10.926	0.47191	0.0:0.0:0.6389:0.3611	.	189	Q9BUA6	MYL10_HUMAN	S	189	ENSP00000223167:R189S	ENSP00000223167:R189S	R	-	1	0	MYL10	101043679	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	1.821000	0.39041	0.336000	0.23639	0.650000	0.86243	CGC		0.552	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		4	118	1	0	0.00024832	0.150653	0.000297097	4	118				
ASPM	259266	broad.mit.edu	37	1	197072215	197072215	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:197072215C>G	ENST00000367409.4	-	18	6422	c.6166G>C	c.(6166-6168)Gct>Cct	p.A2056P	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2056	IQ 15. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTTTTGTAAGCTCTGTATTTA	0.343																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(6166-6168)Gct>Cct		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							100.0	106.0	104.0					1																	197072215		2202	4296	6498	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072215C>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6166G>C	1.37:g.197072215C>G	ENSP00000356379:p.Ala2056Pro					ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.A2056P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	6422	-			2056			IQ 15.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.6166G>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	c	13.77	2.337602	0.41398	.	.	ENSG00000066279	ENST00000367409	T	0.28666	1.6	5.46	3.42	0.39159	.	0.162904	0.43416	D	0.000568	T	0.55924	0.1951	M	0.90595	3.13	0.21386	N	0.999702	D	0.76494	0.999	D	0.72075	0.976	T	0.49390	-0.8945	10	0.56958	D	0.05	.	6.5108	0.22220	0.3905:0.5134:0.0:0.0961	.	2056	Q8IZT6	ASPM_HUMAN	P	2056	ENSP00000356379:A2056P	ENSP00000356379:A2056P	A	-	1	0	ASPM	195338838	0.970000	0.33590	0.154000	0.22540	0.548000	0.35241	1.549000	0.36212	1.293000	0.44690	0.632000	0.83419	GCT		0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		95	193	0	0	0	0.870114	0	95	193				
TAB2	23118	broad.mit.edu	37	6	149699803	149699803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:149699803C>A	ENST00000367456.1	+	4	1329	c.752C>A	c.(751-753)tCa>tAa	p.S251*	TAB2_ENST00000286332.5_Nonsense_Mutation_p.S251*|TAB2_ENST00000536230.1_Nonsense_Mutation_p.S219*|TAB2_ENST00000538427.1_Nonsense_Mutation_p.S251*|TAB2_ENST00000392282.1_Nonsense_Mutation_p.S251*			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	251					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						TATCAGCCTTCACAGCCTGGT	0.483																																						ENST00000367456.1																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						c.(751-753)tCa>tAa		TGF-beta activated kinase 1/MAP3K7 binding protein 2							172.0	165.0	167.0					6																	149699803		2203	4300	6503	SO:0001587	stop_gained	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149699803C>A	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.752C>A	6.37:g.149699803C>A	ENSP00000356426:p.Ser251*					TAB2_ENST00000392282.1_Nonsense_Mutation_p.S251*|TAB2_ENST00000286332.5_Nonsense_Mutation_p.S251*|TAB2_ENST00000538427.1_Nonsense_Mutation_p.S251*|TAB2_ENST00000536230.1_Nonsense_Mutation_p.S219*	p.S251*			Q9NYJ8	TAB2_HUMAN			4	1329	+			251					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Nonsense_Mutation	SNP	ENST00000367456.1	37	c.752C>A	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577687	0.86645	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	.	.	.	5.84	4.97	0.65823	.	0.114453	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9856	15.2161	0.73267	0.0:0.9324:0.0:0.0675	.	.	.	.	X	219;251;251;251;251	.	ENSP00000286332:S251X	S	+	2	0	TAB2	149741496	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	5.513000	0.67037	1.478000	0.48253	0.557000	0.71058	TCA		0.483	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			4	280	1	0	0.00909568	0.150653	0.010329	4	280				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	130	0	0	0	0.150653	0	4	130				
POC1A	25886	broad.mit.edu	37	3	52159164	52159164	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr3:52159164C>T	ENST00000296484.2	-	8	886	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	POC1A_ENST00000394970.2_Missense_Mutation_p.G283R|POC1A_ENST00000474012.1_Missense_Mutation_p.G245R	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	283					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						AAATACTCCCCCGTTCTTGAA	0.433																																						ENST00000394970.2																			0				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						c.(847-849)Ggg>Agg		POC1 centriolar protein A							128.0	119.0	122.0					3																	52159164		2203	4300	6503	SO:0001583	missense	25886					centriole|microtubule basal body		g.chr3:52159164C>T	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.847G>A	3.37:g.52159164C>T	ENSP00000296484:p.Gly283Arg					POC1A_ENST00000296484.2_Missense_Mutation_p.G283R|POC1A_ENST00000474012.1_Missense_Mutation_p.G245R	p.G283R	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN			8	1164	-			283					A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Missense_Mutation	SNP	ENST00000296484.2	37	c.847G>A	CCDS2846.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005309	0.74932	.	.	ENSG00000164087	ENST00000296484;ENST00000394970;ENST00000474012	T;T;T	0.65549	-0.16;-0.16;-0.16	4.74	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.163742	0.56097	D	0.000039	T	0.80330	0.4603	M	0.86953	2.85	0.45272	D	0.998278	D;D	0.76494	0.998;0.999	D;D	0.72075	0.969;0.976	D	0.83724	0.0194	10	0.87932	D	0	.	13.1014	0.59222	0.0:1.0:0.0:0.0	.	283;283	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	R	283;283;245	ENSP00000296484:G283R;ENSP00000378421:G283R;ENSP00000418968:G245R	ENSP00000296484:G283R	G	-	1	0	POC1A	52134204	0.996000	0.38824	0.958000	0.39756	0.927000	0.56198	4.596000	0.61055	2.463000	0.83235	0.561000	0.74099	GGG		0.433	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	NM_015426		31	76	0	0	0	0.788014	0	31	76				
PIK3R1	5295	broad.mit.edu	37	5	67575480	67575480	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr5:67575480G>A	ENST00000521381.1	+	5	1169	c.553G>A	c.(553-555)Gct>Act	p.A185T	PIK3R1_ENST00000521657.1_Missense_Mutation_p.A185T|PIK3R1_ENST00000274335.5_Missense_Mutation_p.A185T|PIK3R1_ENST00000396611.1_Missense_Mutation_p.A185T	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	185	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TTTGGCTGACGCTTTCAAACG	0.383			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(553-555)Gct>Act		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						153.0	142.0	146.0					5																	67575480		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67575480G>A	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.553G>A	5.37:g.67575480G>A	ENSP00000428056:p.Ala185Thr	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000274335.5_Missense_Mutation_p.A185T|PIK3R1_ENST00000396611.1_Missense_Mutation_p.A185T|PIK3R1_ENST00000521657.1_Missense_Mutation_p.A185T	p.A185T	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	5	1169	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	185			Rho-GAP.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.553G>A	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114336	0.56505	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000520675	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	5.51	2.75	0.32379	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.053188	0.85682	D	0.000000	T	0.15003	0.0362	L	0.41573	1.285	0.46954	D	0.999263	B	0.31949	0.348	B	0.20384	0.029	T	0.06917	-1.0800	10	0.40728	T	0.16	-7.3182	11.232	0.48918	0.2012:0.0:0.7988:0.0	.	185	P27986	P85A_HUMAN	T	185;185;185;185;87	ENSP00000428056:A185T;ENSP00000429277:A185T;ENSP00000379855:A185T;ENSP00000274335:A185T;ENSP00000428566:A87T	ENSP00000274335:A185T	A	+	1	0	PIK3R1	67611236	1.000000	0.71417	0.990000	0.47175	0.647000	0.38526	3.942000	0.56614	0.906000	0.36621	-0.259000	0.10710	GCT		0.383	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		20	174	0	0	0	0.667858	0	20	174				
BCOR	54880	broad.mit.edu	37	X	39923699	39923699	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:39923699C>T	ENST00000378444.4	-	7	3620	c.3392G>A	c.(3391-3393)cGg>cAg	p.R1131Q	BCOR_ENST00000378455.4_Missense_Mutation_p.R1113Q|BCOR_ENST00000397354.3_Missense_Mutation_p.R1131Q|BCOR_ENST00000342274.4_Missense_Mutation_p.R1131Q|BCOR_ENST00000378463.1_Missense_Mutation_p.R8Q	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1131					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R1131L(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCTGTCCACCCGGAGGGTGGG	0.607			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		1	Substitution - Missense(1)	p.R1131L(1)	lung(1)	breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(3391-3393)cGg>cAg		BCL6 corepressor							56.0	49.0	51.0					X																	39923699		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39923699C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3392G>A	X.37:g.39923699C>T	ENSP00000367705:p.Arg1131Gln					BCOR_ENST00000378444.4_Missense_Mutation_p.R1131Q|BCOR_ENST00000378463.1_Missense_Mutation_p.R8Q|BCOR_ENST00000378455.4_Missense_Mutation_p.R1113Q|BCOR_ENST00000397354.3_Missense_Mutation_p.R1131Q	p.R1131Q	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			7	3754	-			1131					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.3392G>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166809	0.57476	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85;2.85;2.85	5.63	1.9	0.25705	.	.	.	.	.	T	0.06645	0.0170	N	0.17082	0.46	0.40297	D	0.978561	B;B;B	0.14805	0.005;0.011;0.008	B;B;B	0.12156	0.007;0.004;0.007	T	0.28396	-1.0045	9	0.44086	T	0.13	-8.93	8.3989	0.32574	0.0:0.6662:0.0:0.3338	.	1113;1131;1131	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	Q	35;8;1113;1131;1131;1131;1131	ENSP00000408006:R35Q;ENSP00000367724:R8Q;ENSP00000367716:R1113Q;ENSP00000380512:R1131Q;ENSP00000367705:R1131Q;ENSP00000345923:R1131Q;ENSP00000384485:R1131Q	ENSP00000345923:R1131Q	R	-	2	0	BCOR	39808643	1.000000	0.71417	0.988000	0.46212	0.959000	0.62525	1.519000	0.35888	0.201000	0.20466	0.529000	0.55759	CGG		0.607	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		29	60	0	0	0	0.729181	0	29	60				
GRIN3A	116443	broad.mit.edu	37	9	104499941	104499941	+	Silent	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr9:104499941C>T	ENST00000361820.3	-	1	921	c.321G>A	c.(319-321)ccG>ccA	p.P107P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	107					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GGGAGCCCGGCGGCCCCCGGC	0.751																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(319-321)ccG>ccA		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						7.0	9.0	8.0					9																	104499941		2104	4146	6250	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104499941C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.321G>A	9.37:g.104499941C>T							p.P107P	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			1	921	-		Acute lymphoblastic leukemia(62;0.0568)	107					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.321G>A	CCDS6758.1																																																																																				0.751	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			8	6	0	0	0	0.335167	0	8	6				
LOC645752	645752	broad.mit.edu	37	15	78212571	78212571	+	lincRNA	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr15:78212571G>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCTGTGTCACGTGTGCGTTCA	0.572																																						ENST00000565869.1																			0																																																			0							g.chr15:78212571G>A																													15.37:g.78212571G>A						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.572	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	48	0	0	0	0.217242	0	4	48				
ATP4A	495	broad.mit.edu	37	19	36054147	36054147	+	Silent	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr19:36054147C>T	ENST00000262623.3	-	3	208	c.180G>A	c.(178-180)gcG>gcA	p.A60A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	60					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.A60A(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GTTCCAGCTCCGCCACTGACA	0.642																																						ENST00000262623.3																			1	Substitution - coding silent(1)	p.A60A(1)	kidney(1)	breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(178-180)gcG>gcA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						177.0	171.0	173.0					19																	36054147		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054147C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.180G>A	19.37:g.36054147C>T							p.A60A	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		3	208	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		60					O00738	Silent	SNP	ENST00000262623.3	37	c.180G>A	CCDS12467.1																																																																																				0.642	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		4	209	0	0	0	0.150653	0	4	209				
LRRC52	440699	broad.mit.edu	37	1	165513828	165513828	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:165513828G>T	ENST00000294818.1	+	1	585	c.295G>T	c.(295-297)Ggg>Tgg	p.G99W	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	99					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TACCTTCATCGGGGTCTTCAA	0.483																																						ENST00000294818.1																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18						c.(295-297)Ggg>Tgg		leucine rich repeat containing 52							184.0	180.0	181.0					1																	165513828		2203	4300	6503	SO:0001583	missense	440699					integral to membrane		g.chr1:165513828G>T	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.295G>T	1.37:g.165513828G>T	ENSP00000294818:p.Gly99Trp					RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	p.G99W	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN			1	585	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		99					A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	c.295G>T	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220913	0.79464	.	.	ENSG00000162763	ENST00000294818	T	0.61040	0.14	5.68	5.68	0.88126	.	0.151564	0.64402	D	0.000013	T	0.80076	0.4557	M	0.94063	3.49	0.41973	D	0.990767	D	0.89917	1.0	D	0.80764	0.994	D	0.84642	0.0696	9	0.72032	D	0.01	.	17.2918	0.87159	0.0:0.0:1.0:0.0	.	99	Q8N7C0	LRC52_HUMAN	W	99	ENSP00000294818:G99W	ENSP00000294818:G99W	G	+	1	0	LRRC52	163780452	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.834000	0.62774	2.677000	0.91161	0.563000	0.77884	GGG		0.483	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		5	316	1	0	0.000602214	0.184627	0.000707866	5	316				
LAMB2	3913	broad.mit.edu	37	3	49159715	49159715	+	Silent	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr3:49159715G>A	ENST00000418109.1	-	29	4826	c.4662C>T	c.(4660-4662)caC>caT	p.H1554H	USP19_ENST00000453664.1_5'Flank|USP19_ENST00000398898.2_5'Flank|USP19_ENST00000434032.2_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Silent_p.H1554H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1554	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACCCGCCAGGTGCTGGATCT	0.597																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(4660-4662)caC>caT		laminin, beta 2 (laminin S)							60.0	58.0	59.0					3																	49159715		2203	4300	6503	SO:0001819	synonymous_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49159715G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4662C>T	3.37:g.49159715G>A						LAMB2_ENST00000305544.4_Silent_p.H1554H	p.H1554H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	29	4826	-			1554			Domain I.		Q16321	Silent	SNP	ENST00000418109.1	37	c.4662C>T	CCDS2789.1																																																																																				0.597	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		34	71	0	0	0	0.827153	0	34	71				
ZNF292	23036	broad.mit.edu	37	6	87964677	87964677	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:87964677C>T	ENST00000369577.3	+	8	1373	c.1330C>T	c.(1330-1332)Cca>Tca	p.P444S	ZNF292_ENST00000339907.4_Missense_Mutation_p.P439S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	444						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCCCTTTGATCCAGAATTCTG	0.378																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(1330-1332)Cca>Tca		zinc finger protein 292							76.0	70.0	72.0					6																	87964677		1845	4083	5928	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87964677C>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1330C>T	6.37:g.87964677C>T	ENSP00000358590:p.Pro444Ser					ZNF292_ENST00000339907.4_Missense_Mutation_p.P439S	p.P444S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	1373	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	444					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.1330C>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.877198	0.72294	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.39997	1.05;1.05	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63989	-0.6512	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	444	O60281	ZN292_HUMAN	S	444;439	ENSP00000358590:P444S;ENSP00000342847:P439S	ENSP00000342847:P439S	P	+	1	0	ZNF292	88021396	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	CCA		0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		3	73	0	0	0	0.115264	0	3	73				
FRMD7	90167	broad.mit.edu	37	X	131216497	131216497	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:131216497A>G	ENST00000298542.4	-	9	974	c.799T>C	c.(799-801)Ttc>Ctc	p.F267L	FRMD7_ENST00000370879.1_Missense_Mutation_p.F147L|FRMD7_ENST00000464296.1_Missense_Mutation_p.F252L	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	267	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GTCTTCCAGAAAGCCTTGCAG	0.463																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(799-801)Ttc>Ctc		FERM domain containing 7							182.0	171.0	175.0					X																	131216497		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131216497A>G	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.799T>C	X.37:g.131216497A>G	ENSP00000298542:p.Phe267Leu					FRMD7_ENST00000464296.1_Missense_Mutation_p.F252L|FRMD7_ENST00000370879.1_Missense_Mutation_p.F147L	p.F267L	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			9	974	-	Acute lymphoblastic leukemia(192;0.000127)		267			FERM.		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.799T>C	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547576	0.86022	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	T;T;T	0.73681	-0.77;-0.77;-0.77	5.2	5.2	0.72013	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.75258	0.3825	L	0.31476	0.935	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.987;0.999	T	0.70212	-0.4934	10	0.06365	T	0.9	.	13.467	0.61260	1.0:0.0:0.0:0.0	.	252;267	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	L	147;267;252	ENSP00000359916:F147L;ENSP00000298542:F267L;ENSP00000417996:F252L	ENSP00000298542:F267L	F	-	1	0	FRMD7	131044178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	1.844000	0.53588	0.441000	0.28932	TTC		0.463	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		140	259	0	0	0	0.870114	0	140	259				
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																						ENST00000375299.3																			8	Substitution - coding silent(8)	p.L91L(8)	lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(271-273)Ctg>Ttg		UPF3 regulator of nonsense transcripts homolog A (yeast)							4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115047559C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T						UPF3A_ENST00000351487.5_Silent_p.L91L	p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	2	327	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	91			Required for interaction with UPF2.		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	c.271C>T	CCDS9543.1																																																																																				0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			2	4	0	0	0	0.115264	0	2	4				
YES1	7525	broad.mit.edu	37	18	756710	756710	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr18:756710A>G	ENST00000584307.1	-	2	288	c.118T>C	c.(118-120)Tca>Cca	p.S40P	YES1_ENST00000314574.4_Missense_Mutation_p.S40P|YES1_ENST00000577611.1_5'UTR|YES1_ENST00000577961.1_Missense_Mutation_p.S45P			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	40					blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GGACATGGTGACACTGTAGTG	0.453																																						ENST00000584307.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(118-120)Tca>Cca		v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	Dasatinib(DB01254)						231.0	195.0	207.0					18																	756710		2203	4300	6503	SO:0001583	missense	7525				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	g.chr18:756710A>G	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.118T>C	18.37:g.756710A>G	ENSP00000462468:p.Ser40Pro					YES1_ENST00000577961.1_Missense_Mutation_p.S45P|YES1_ENST00000577611.1_5'UTR|YES1_ENST00000314574.4_Missense_Mutation_p.S40P	p.S40P			P07947	YES_HUMAN			2	288	-			40					A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	37	c.118T>C	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	A	4.888	0.165111	0.09339	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.75050	-0.9	4.66	-1.53	0.08611	.	1.103580	0.06679	N	0.767566	T	0.49525	0.1562	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25882	-1.0119	10	0.27785	T	0.31	.	4.3571	0.11183	0.2588:0.2688:0.0:0.4724	.	40	P07947	YES_HUMAN	P	40	ENSP00000324740:S40P	ENSP00000324740:S40P	S	-	1	0	YES1	746710	0.001000	0.12720	0.019000	0.16419	0.870000	0.49936	-0.540000	0.06106	-0.181000	0.10619	0.260000	0.18958	TCA		0.453	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433		108	174	0	0	0	0.870114	0	108	174				
ACTR3	10096	broad.mit.edu	37	2	114699855	114699855	+	Silent	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:114699855C>T	ENST00000263238.2	+	8	1097	c.777C>T	c.(775-777)atC>atT	p.I259I	ACTR3_ENST00000536059.1_Silent_p.I197I|ACTR3_ENST00000535589.2_Silent_p.I208I	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	259					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						ATACTGGAATCAATGCTATCT	0.328																																						ENST00000263238.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						c.(775-777)atC>atT		ARP3 actin-related protein 3 homolog (yeast)							105.0	106.0	106.0					2																	114699855		2203	4298	6501	SO:0001819	synonymous_variant	10096				cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding	g.chr2:114699855C>T	AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"""ARP3 (actin-related protein 3, yeast) homolog"""			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.777C>T	2.37:g.114699855C>T						ACTR3_ENST00000536059.1_Silent_p.I197I|ACTR3_ENST00000535589.2_Silent_p.I208I	p.I259I	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN			8	1097	+			259					P32391|Q53QM2	Silent	SNP	ENST00000263238.2	37	c.777C>T	CCDS33277.1																																																																																				0.328	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2	NM_005721		55	77	0	0	0	0.870114	0	55	77				
F2	2147	broad.mit.edu	37	11	46760818	46760818	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr11:46760818C>T	ENST00000311907.5	+	14	1785	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S	F2_ENST00000530231.1_Missense_Mutation_p.P538S	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	577	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	TCTTCAGAGCCCCTTTAACAA	0.478																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	ENST00000311907.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(1729-1731)Ccc>Tcc		coagulation factor II (thrombin)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						115.0	112.0	113.0					11																	46760818		2201	4299	6500	SO:0001583	missense	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46760818C>T	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1729C>T	11.37:g.46760818C>T	ENSP00000308541:p.Pro577Ser					F2_ENST00000530231.1_Missense_Mutation_p.P538S	p.P577S	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	14	1785	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	577			Peptidase S1.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	c.1729C>T	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400391	0.42613	.	.	ENSG00000180210	ENST00000311907;ENST00000530231	D;D	0.88277	-2.36;-2.36	5.1	4.18	0.49190	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.109676	0.64402	D	0.000005	D	0.83482	0.5264	L	0.31157	0.91	0.58432	D	0.999999	P	0.41232	0.743	B	0.41332	0.354	D	0.84188	0.0443	10	0.87932	D	0	.	11.7098	0.51618	0.0:0.918:0.0:0.082	.	577	P00734	THRB_HUMAN	S	577;538	ENSP00000308541:P577S;ENSP00000433907:P538S	ENSP00000308541:P577S	P	+	1	0	F2	46717394	1.000000	0.71417	0.919000	0.36401	0.006000	0.05464	3.291000	0.51764	1.162000	0.42619	0.558000	0.71614	CCC		0.478	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			51	95	0	0	0	0.870114	0	51	95				
BMP1	649	broad.mit.edu	37	8	22049614	22049614	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr8:22049614A>G	ENST00000306385.5	+	9	1800	c.1130A>G	c.(1129-1131)tAc>tGc	p.Y377C	BMP1_ENST00000397814.3_Missense_Mutation_p.Y377C|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.Y377C|BMP1_ENST00000306349.8_Missense_Mutation_p.Y377C	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	377	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGTGCTGGTACGACTATGTG	0.607																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1129-1131)tAc>tGc		bone morphogenetic protein 1							182.0	146.0	158.0					8																	22049614		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22049614A>G		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1130A>G	8.37:g.22049614A>G	ENSP00000305714:p.Tyr377Cys					BMP1_ENST00000306349.8_Missense_Mutation_p.Y377C|BMP1_ENST00000397816.3_Missense_Mutation_p.Y377C|BMP1_ENST00000397814.3_Missense_Mutation_p.Y377C|BMP1_ENST00000354870.5_3'UTR	p.Y377C	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	9	1800	+			377			CUB 1.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.1130A>G	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.602238	0.87055	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.77	5.77	0.91146	CUB (5);	0.000000	0.35067	U	0.003461	T	0.54870	0.1885	M	0.91140	3.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;1.0;0.993;0.998	T	0.64322	-0.6435	10	0.59425	D	0.04	.	14.0545	0.64759	1.0:0.0:0.0:0.0	.	377;450;377;377	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	C	377	ENSP00000305714:Y377C;ENSP00000380917:Y377C;ENSP00000306121:Y377C;ENSP00000380915:Y377C	ENSP00000306121:Y377C	Y	+	2	0	BMP1	22105559	1.000000	0.71417	0.980000	0.43619	0.988000	0.76386	9.213000	0.95133	2.200000	0.70718	0.459000	0.35465	TAC		0.607	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		3	121	0	0	0	0.150653	0	3	121				
POLR1A	25885	broad.mit.edu	37	2	86316951	86316951	+	Silent	SNP	G	G	A	rs199538363	byFrequency	TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:86316951G>A	ENST00000263857.6	-	4	912	c.534C>T	c.(532-534)ggC>ggT	p.G178G	POLR1A_ENST00000409681.1_Silent_p.G178G			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	178					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCACATGTGCGCCCTGGGACC	0.458													G|||	2	0.000399361	0.0	0.0	5008	,	,		20977	0.002		0.0	False		,,,				2504	0.0					ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(532-534)ggC>ggT		polymerase (RNA) I polypeptide A, 194kDa		G		0,3838		0,0,1919	153.0	152.0	152.0		534	-10.4	0.0	2		152	1,8261		0,1,4130	no	coding-synonymous	POLR1A	NM_015425.3		0,1,6049	AA,AG,GG		0.0121,0.0,0.0083		178/1721	86316951	1,12099	1919	4131	6050	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86316951G>A	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.534C>T	2.37:g.86316951G>A						POLR1A_ENST00000409681.1_Silent_p.G178G	p.G178G			O95602	RPA1_HUMAN			4	912	-			178					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.534C>T	CCDS42706.1																																																																																				0.458	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		40	86	0	0	0	0.864702	0	40	86				
GOLGB1	2804	broad.mit.edu	37	3	121415996	121415996	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr3:121415996G>T	ENST00000340645.5	-	13	3484	c.3359C>A	c.(3358-3360)gCa>gAa	p.A1120E	GOLGB1_ENST00000393667.3_Missense_Mutation_p.A1125E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1120					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTGGATAATTGCTTGGTTTTC	0.418																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(3373-3375)gCa>gAa		golgin B1							196.0	173.0	180.0					3																	121415996		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121415996G>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3359C>A	3.37:g.121415996G>T	ENSP00000341848:p.Ala1120Glu					GOLGB1_ENST00000340645.5_Missense_Mutation_p.A1120E	p.A1125E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	3484	-			1120					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.3374C>A	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.474|4.474	0.087761|0.087761	0.08583|0.08583	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.24151|.	2.47;2.46;1.87|.	5.24|5.24	2.46|2.46	0.29980|0.29980	.|.	0.428349|.	0.22319|.	N|.	0.061637|.	T|T	0.38268|0.38268	0.1034|0.1034	L|L	0.43923|0.43923	1.385|1.385	0.09310|0.09310	N|N	1|1	P;B;P;D;P|.	0.76494|.	0.952;0.007;0.952;0.999;0.902|.	P;B;P;D;B|.	0.68943|.	0.523;0.007;0.466;0.961;0.229|.	T|T	0.22730|0.22730	-1.0208|-1.0208	10|5	0.14252|.	T|.	0.57|.	.|.	8.5432|8.5432	0.33406|0.33406	0.1492:0.0:0.7234:0.1274|0.1492:0.0:0.7234:0.1274	.|.	1045;1084;1125;1125;1120|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	E|K	1120;1125;1084;932|991	ENSP00000341848:A1120E;ENSP00000377275:A1125E;ENSP00000418231:A1084E|.	ENSP00000341848:A1120E|.	A|Q	-|-	2|1	0|0	GOLGB1|GOLGB1	122898686|122898686	0.458000|0.458000	0.25760|0.25760	0.288000|0.288000	0.24862|0.24862	0.533000|0.533000	0.34776|0.34776	0.910000|0.910000	0.28571|0.28571	0.090000|0.090000	0.17273|0.17273	-1.134000|-1.134000	0.01955|0.01955	GCA|CAA		0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		4	279	1	0	0.184627	0.184627	0.199517	4	279				
CEP170	9859	broad.mit.edu	37	1	243328278	243328278	+	Missense_Mutation	SNP	C	C	T	rs375934140		TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:243328278C>T	ENST00000366542.1	-	13	3035	c.2984G>A	c.(2983-2985)cGt>cAt	p.R995H	CEP170_ENST00000366543.1_Missense_Mutation_p.R897H|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.R897H	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	995	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATCTGTGGAACGACTTTTTGT	0.408																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(2983-2985)cGt>cAt		centrosomal protein 170kDa		C	HIS/ARG,HIS/ARG,HIS/ARG	0,3752		0,0,1876	94.0	86.0	89.0		2690,2690,2984	4.9	1.0	1		89	1,8197		0,1,4098	no	missense,missense,missense	CEP170	NM_001042404.1,NM_001042405.1,NM_014812.2	29,29,29	0,1,5974	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging	897/1487,897/1461,995/1585	243328278	1,11949	1876	4099	5975	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243328278C>T	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2984G>A	1.37:g.243328278C>T	ENSP00000355500:p.Arg995His					CEP170_ENST00000366543.1_Missense_Mutation_p.R897H|RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.R897H	p.R995H	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	3035	-	all_neural(11;0.101)	all_cancers(173;0.003)	995			Targeting to microtubules.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.2984G>A	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.86|16.86	3.238361|3.238361	0.58886|0.58886	0.0|0.0	1.22E-4|1.22E-4	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543|ENST00000336415	T;T;T|.	0.48201|.	0.84;0.83;0.82|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.061588|.	0.64402|.	D|.	0.000002|.	T|T	0.66346|0.66346	0.2780|0.2780	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.997;0.993;0.993;0.994|.	T|T	0.63834|0.63834	-0.6547|-0.6547	10|5	0.42905|.	T|.	0.14|.	-6.9291|-6.9291	17.0433|17.0433	0.86495|0.86495	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	958;897;897;995|.	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;.;CE170_HUMAN|.	H|I	995;897;897|959	ENSP00000355500:R995H;ENSP00000355502:R897H;ENSP00000355501:R897H|.	ENSP00000355500:R995H|.	R|V	-|-	2|1	0|0	CEP170|CEP170	241394901|241394901	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.998000|0.998000	0.95712|0.95712	5.281000|5.281000	0.65609|0.65609	2.248000|2.248000	0.74166|0.74166	0.555000|0.555000	0.69702|0.69702	CGT|GTT		0.408	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		14	105	0	0	0	0.639603	0	14	105				
OR2W3	343171	broad.mit.edu	37	1	248058977	248058977	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:248058977T>C	ENST00000360358.3	+	1	89	c.89T>C	c.(88-90)gTc>gCc	p.V30A	OR2W3_ENST00000537741.1_Missense_Mutation_p.V30A	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTCTTTGTGGTCATCCTGATC	0.567																																						ENST00000537741.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(88-90)gTc>gCc		olfactory receptor, family 2, subfamily W, member 3							142.0	128.0	133.0					1																	248058977		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248058977T>C	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.89T>C	1.37:g.248058977T>C	ENSP00000353516:p.Val30Ala					OR2W3_ENST00000360358.3_Missense_Mutation_p.V30A	p.V30A			Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	346	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		30					Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.89T>C	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.733074	0.30684	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.03094	4.05;4.05	5.29	4.16	0.48862	.	0.230771	0.30401	N	0.009711	T	0.07324	0.0185	M	0.70903	2.155	0.09310	N	1	P	0.45474	0.859	B	0.43155	0.41	T	0.13335	-1.0513	10	0.51188	T	0.08	.	10.9577	0.47366	0.0:0.0739:0.0:0.9261	.	30	Q7Z3T1	OR2W3_HUMAN	A	30	ENSP00000445853:V30A;ENSP00000353516:V30A	ENSP00000353516:V30A	V	+	2	0	OR2W3	246125600	0.076000	0.21285	0.998000	0.56505	0.291000	0.27294	2.769000	0.47654	1.028000	0.39785	-0.363000	0.07495	GTC		0.567	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		3	155	0	0	0	0.115264	0	3	155				
FRMD1	79981	broad.mit.edu	37	6	168479688	168479688	+	Silent	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:168479688T>C	ENST00000283309.6	-	1	151	c.87A>G	c.(85-87)gaA>gaG	p.E29E		NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	29						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CAGGACTGGGTTCCATACATC	0.652																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(85-87)gaA>gaG		FERM domain containing 1							68.0	66.0	66.0					6																	168479688		2203	4300	6503	SO:0001819	synonymous_variant	79981					cytoskeleton	binding	g.chr6:168479688T>C		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.87A>G	6.37:g.168479688T>C							p.E29E	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	1	151	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	29					B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Silent	SNP	ENST00000283309.6	37	c.87A>G	CCDS5306.1																																																																																				0.652	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		4	102	0	0	0	0.150653	0	4	102				
KAL1	3730	broad.mit.edu	37	X	8555923	8555923	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:8555923T>C	ENST00000262648.3	-	5	787	c.638A>G	c.(637-639)gAg>gGg	p.E213G		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	213	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GATCACAGGCTCAATAGAAAT	0.468																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(637-639)gAg>gGg		Kallmann syndrome 1 sequence							89.0	71.0	77.0					X																	8555923		2203	4300	6503	SO:0001583	missense	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8555923T>C		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.638A>G	X.37:g.8555923T>C	ENSP00000262648:p.Glu213Gly						p.E213G	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			5	787	-			213			Fibronectin type-III 1.		B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	c.638A>G	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195957	0.58126	.	.	ENSG00000011201	ENST00000262648	T	0.59364	0.27	4.04	4.04	0.47022	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	M	0.78916	2.43	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.76299	-0.3010	10	0.56958	D	0.05	.	11.6198	0.51111	0.0:0.0:0.0:1.0	.	213	P23352	KALM_HUMAN	G	213	ENSP00000262648:E213G	ENSP00000262648:E213G	E	-	2	0	KAL1	8515923	1.000000	0.71417	0.916000	0.36221	0.759000	0.43091	6.810000	0.75216	1.316000	0.45131	0.481000	0.45027	GAG		0.468	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		19	22	0	0	0	0.575678	0	19	22				
WNT11	7481	broad.mit.edu	37	11	75902837	75902837	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr11:75902837G>A	ENST00000322563.3	-	4	785	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	221					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)	p.R221C(3)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CAGCAGGTGCGGATGGAGCAG	0.637																																						ENST00000322563.3																			3	Substitution - Missense(3)	p.R221C(3)	lung(1)|breast(1)|skin(1)	breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(661-663)Cgc>Tgc		wingless-type MMTV integration site family, member 11							73.0	65.0	68.0					11																	75902837		2200	4292	6492	SO:0001583	missense	7481				adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	g.chr11:75902837G>A	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.661C>T	11.37:g.75902837G>A	ENSP00000325526:p.Arg221Cys					RP11-619A14.2_ENST00000527314.1_RNA	p.R221C	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN			4	785	-			221					B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	c.661C>T	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.405947	0.83230	.	.	ENSG00000085741	ENST00000322563	T	0.78003	-1.14	5.66	4.68	0.58851	.	0.136652	0.64402	D	0.000008	D	0.85168	0.5635	M	0.84156	2.68	0.80722	D	1	D	0.67145	0.996	P	0.57846	0.828	D	0.86809	0.1997	10	0.87932	D	0	.	10.9308	0.47217	0.0:0.0:0.6384:0.3616	.	221	O96014	WNT11_HUMAN	C	221	ENSP00000325526:R221C	ENSP00000325526:R221C	R	-	1	0	WNT11	75580485	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.559000	0.60796	2.675000	0.91044	0.655000	0.94253	CGC		0.637	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		4	89	0	0	0	0.150653	0	4	89				
RABEP2	79874	broad.mit.edu	37	16	28922261	28922261	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr16:28922261C>T	ENST00000358201.4	-	7	1625	c.1037G>A	c.(1036-1038)cGg>cAg	p.R346Q	RABEP2_ENST00000544477.1_Missense_Mutation_p.R275Q|RABEP2_ENST00000357573.6_Missense_Mutation_p.R314Q	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	346					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TTGCAGGGTCCGCAGCAGCTG	0.677																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(1036-1038)cGg>cAg		rabaptin, RAB GTPase binding effector protein 2							34.0	38.0	36.0					16																	28922261		1987	4165	6152	SO:0001583	missense	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28922261C>T	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.1037G>A	16.37:g.28922261C>T	ENSP00000350934:p.Arg346Gln					RABEP2_ENST00000544477.1_Missense_Mutation_p.R275Q|RABEP2_ENST00000357573.6_Missense_Mutation_p.R314Q	p.R346Q	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			7	1625	-			346						Missense_Mutation	SNP	ENST00000358201.4	37	c.1037G>A	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	C	8.804	0.933639	0.18206	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.28895	1.59;1.59;1.59	5.12	1.69	0.24217	Rabaptin coiled-coil domain (1);	0.215361	0.39146	N	0.001456	T	0.07728	0.0194	N	0.00483	-1.445	0.30799	N	0.740131	B;B;B;B	0.19583	0.037;0.0;0.006;0.005	B;B;B;B	0.12156	0.006;0.002;0.004;0.007	T	0.18053	-1.0349	10	0.27082	T	0.32	-28.5758	7.2882	0.26352	0.0:0.5284:0.0:0.4716	.	275;314;346;346	B4DHR0;Q9H5N1-2;Q49AT6;Q9H5N1	.;.;.;RABE2_HUMAN	Q	346;314;275	ENSP00000350934:R346Q;ENSP00000350186:R314Q;ENSP00000442798:R275Q	ENSP00000350186:R314Q	R	-	2	0	RABEP2	28829762	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	0.865000	0.27940	0.205000	0.20568	-1.134000	0.01955	CGG		0.677	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		4	51	0	0	0	0.184627	0	4	51				
RP11-423O2.5	0	broad.mit.edu	37	1	142803276	142803278	+	lincRNA	DEL	AAC	AAC	-	rs140309984|rs145869340		TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:142803276_142803278delAAC	ENST00000423385.1	-	0	1687_1689																											ACCAAACCAAaacaacaacaaca	0.345																																						ENST00000423385.1																			0																																																			0							g.chr1:142803276_142803278delAAC																													1.37:g.142803285_142803287delAAC														0	1687_1689	-									RNA	DEL	ENST00000423385.1	37																																																																																						0.345	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			3	5						3	5	---	---	---	---
NBPF10	100132406	broad.mit.edu	37	1	145328401	145328406	+	In_Frame_Del	DEL	GAAGAC	GAAGAC	-	rs371101751		TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:145328401_145328406delGAAGAC	ENST00000342960.5	+	33	4284_4289	c.4249_4254delGAAGAC	c.(4249-4254)gaagacdel	p.ED1419del	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	760						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGAAGAGGAAGAAGACGAAGACCAAG	0.466																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(4249-4254)del		neuroblastoma breakpoint family, member 10																																				SO:0001651	inframe_deletion	100132406							g.chr1:145328401_145328406delGAAGAC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4249_4254delGAAGAC	1.37:g.145328407_145328412delGAAGAC	ENSP00000345684:p.Glu1419_Asp1420del					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.ED1419del	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	33	4284_4289	+	all_hematologic(923;0.032)		1419					Q5RHC0|Q9NWN6	In_Frame_Del	DEL	ENST00000342960.5	37	c.4249_4254delGAAGAC	CCDS53355.1																																																																																				0.466	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	3						3	3	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T	rs200252504	byFrequency	TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGACTTCTCTGTGAGCTTTG	0.381													|||unknown(ALL_OTHER_Ns)	3992	0.797125	0.888	0.8112	5008	,	,		14038	0.8571		0.6809	False		,,,				2504	0.7219				Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711343_195711344insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711344_195711344dupT								NR_003264.2						0	585	-									RNA	INS	ENST00000427841.1	37																																																																																						0.381	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	6						3	6	---	---	---	---
LOC728339	728339	broad.mit.edu	37	4	190818970	190818974	+	lincRNA	DEL	AGGAA	AGGAA	-	rs201901087	byFrequency	TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr4:190818970_190818974delAGGAA	ENST00000511785.1	-	0	231																											agggagagcgaggaaaggaaaggaa	0.483														414	0.0826677	0.1664	0.0591	5008	,	,		14862	0.0437		0.0716	False		,,,				2504	0.0378					ENST00000511785.1																			0																																																			0							g.chr4:190818970_190818974delAGGAA																													4.37:g.190818980_190818984delAGGAA														0	231	-									RNA	DEL	ENST00000511785.1	37																																																																																						0.483	AF146191.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000361301.1			3	6						3	6	---	---	---	---
RP11-254I22.1	0	broad.mit.edu	37	5	95414786	95414787	+	lincRNA	INS	-	-	TAAAA	rs34328926|rs80243332|rs60523167|rs5869706	byFrequency	TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr5:95414786_95414787insTAAAA	ENST00000507997.1	+	0	87				MIR583_ENST00000384846.1_RNA|CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA																							acccatgcacttaaagttaaaa	0.361														2975	0.59405	0.7156	0.4813	5008	,	,		22499	0.495		0.6362	False		,,,				2504	0.5685					ENST00000507997.1																			0																	2353,1165		895,563,301						0.2	0.1		dbSNP_114	36	3841,2837		1367,1107,865	no	intergenic				2262,1670,1166	A1A1,A1R,RR		42.4828,33.1154,39.2507				6194,4002						0							g.chr5:95414786_95414787insTAAAA																													5.37:g.95414786_95414787insTAAAA						CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA								0	87	+									RNA	INS	ENST00000507997.1	37																																																																																						0.361	RP11-254I22.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000370578.1			2	4						2	4	---	---	---	---
ZNF16	7564	broad.mit.edu	37	8	146156188	146156191	+	Frame_Shift_Del	DEL	CAAG	CAAG	-			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr8:146156188_146156191delCAAG	ENST00000276816.4	-	4	2168_2171	c.1982_1985delCTTG	c.(1981-1986)gcttgtfs	p.AC661fs	ZNF16_ENST00000394909.2_Frame_Shift_Del_p.AC661fs	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	661					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GGCTTTCCCACAAGCAGCACAGTC	0.525																																						ENST00000276816.4																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1981-1986)gtfs		zinc finger protein 16																																				SO:0001589	frameshift_variant	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146156188_146156191delCAAG	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1982_1985delCTTG	8.37:g.146156188_146156191delCAAG	ENSP00000276816:p.Ala661fs					ZNF16_ENST00000394909.2_Frame_Shift_Del_p.AC661fs	p.AC661fs	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	2168_2171	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	661					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Frame_Shift_Del	DEL	ENST00000276816.4	37	c.1982_1985delCTTG	CCDS6437.1																																																																																				0.525	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		13	227						13	227	---	---	---	---
LINC00922	283867	broad.mit.edu	37	16	65578112	65578127	+	lincRNA	DEL	AGGGAGGGAGGGAGGG	AGGGAGGGAGGGAGGG	-	rs368972692|rs374650567|rs149788209|rs370203282|rs113866442		TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr16:65578112_65578127delAGGGAGGGAGGGAGGG	ENST00000569736.1	-	0	217					NR_027755.1				long intergenic non-protein coding RNA 922																		gaaggaaggaagggagggagggagggaggaaggaag	0.505																																						ENST00000569736.1																			0																																																			0							g.chr16:65578112_65578127delAGGGAGGGAGGGAGGG	BC037902, BC104446		16q21	2013-05-24			ENSG00000261742	ENSG00000261742		"""Long non-coding RNAs"""	27545	non-coding RNA	RNA, long non-coding							Standard	NR_027755		Approved				OTTHUMG00000172812		16.37:g.65578112_65578127delAGGGAGGGAGGGAGGG								NR_027755.1						0	217	-									RNA	DEL	ENST00000569736.1	37																																																																																						0.505	LINC00922-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000420601.2	NR_027755		2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76854942	76854942	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:76854942delC	ENST00000373344.5	-	25	6108	c.5894delG	c.(5893-5895)ggtfs	p.G1966fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.G1928fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1966					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCCTTCACCACCTCCCCGAGA	0.388			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5893-5895)gtfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						348.0	325.0	332.0					X																	76854942		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76854942delC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5894delG	X.37:g.76854942delC	ENSP00000362441:p.Gly1966fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.G1928fs	p.G1966fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			25	6108	-			1966					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.5894delG	CCDS14434.1																																																																																				0.388	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		308	498						308	498	---	---	---	---
