#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
ITSN2	50618	broad.mit.edu	37	2	24438918	24438918	+	Splice_Site	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:24438918C>T	ENST00000355123.4	-	32	4433	c.3990G>A	c.(3988-3990)aaG>aaA	p.K1330K	ITSN2_ENST00000361999.3_Splice_Site_p.K1303K|AC009228.1_ENST00000430105.1_RNA|AC009228.1_ENST00000413989.1_RNA|AC009228.1_ENST00000413254.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1330	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGAATTACCTTTAAAAATT	0.498																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.e32+1		intersectin 2							61.0	63.0	63.0					2																	24438918		2203	4300	6503	SO:0001630	splice_region_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24438918C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3990+1G>A	2.37:g.24438918C>T						ITSN2_ENST00000361999.3_Splice_Site_p.K1303_splice|AC009228.1_ENST00000413254.1_RNA|AC009228.1_ENST00000413989.1_RNA|AC009228.1_ENST00000430105.1_RNA	p.K1330_splice	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			32	4433	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1330			DH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Splice_Site	SNP	ENST00000355123.4	37	c.3990_splice	CCDS1710.2																																																																																				0.498	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	Silent	35	26	0	0	0	1	0	35	26				
SPTB	6710	broad.mit.edu	37	14	65253730	65253730	+	Missense_Mutation	SNP	G	G	A	rs371628390	byFrequency	TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr14:65253730G>A	ENST00000389721.5	-	15	2985	c.2953C>T	c.(2953-2955)Cgg>Tgg	p.R985W	SPTB_ENST00000389722.3_Missense_Mutation_p.R985W|SPTB_ENST00000542895.1_Missense_Mutation_p.R985W|SPTB_ENST00000556626.1_Missense_Mutation_p.R985W|SPTB_ENST00000389720.3_Missense_Mutation_p.R985W	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	985					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCAGGTCCCGCCCCAGGTCT	0.602													g|||	2	0.000399361	0.0008	0.0	5008	,	,		18467	0.0		0.0	False		,,,				2504	0.001					ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(2953-2955)Cgg>Tgg		spectrin, beta, erythrocytic			TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	76.0	78.0		2953,2953	4.2	1.0	14		78	0,8600		0,0,4300	no	missense,missense	SPTB	NM_000347.5,NM_001024858.2	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	985/2138,985/2329	65253730	1,13005	2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65253730G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2953C>T	14.37:g.65253730G>A	ENSP00000374371:p.Arg985Trp					SPTB_ENST00000556626.1_Missense_Mutation_p.R985W|SPTB_ENST00000542895.1_Missense_Mutation_p.R985W|SPTB_ENST00000389720.3_Missense_Mutation_p.R985W|SPTB_ENST00000389721.5_Missense_Mutation_p.R985W	p.R985W	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	15	3006	-		all_lung(585;4.15e-09)	985					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.2953C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028681	0.75390	2.27E-4	0.0	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.06	4.16	0.48862	.	0.443348	0.24463	N	0.038311	T	0.55194	0.1905	M	0.68952	2.095	0.20074	N	0.999935	D;D	0.60160	0.987;0.977	P;P	0.51453	0.67;0.67	T	0.52902	-0.8513	10	0.72032	D	0.01	.	11.6703	0.51396	0.0:0.0:0.5623:0.4377	.	985;989	P11277;Q59FP5	SPTB1_HUMAN;.	W	989;985;985;985;985;985	ENSP00000374372:R985W;ENSP00000451752:R985W;ENSP00000374371:R985W;ENSP00000443882:R985W;ENSP00000374370:R985W	ENSP00000374370:R985W	R	-	1	2	SPTB	64323483	0.000000	0.05858	0.992000	0.48379	0.992000	0.81027	0.862000	0.27899	1.253000	0.44018	0.549000	0.68633	CGG		0.602	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			28	42	0	0	0	1	0	28	42				
RUNX2	860	broad.mit.edu	37	6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(211-213)Cag>Gag		runt-related transcription factor 2							6.0	10.0	9.0					6																	45390482		1279	2789	4068	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390482C>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.211C>G	6.37:g.45390482C>G	ENSP00000360493:p.Gln71Glu					RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E	p.Q71E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	569	+			71			Poly-Gln.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.211C>G	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985548	0.35036	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	3.45	3.45	0.39498	.	1.972660	0.03402	N	0.203449	T	0.19248	0.0462	N	0.14661	0.345	0.27094	N	0.962779	B;B;B	0.23806	0.033;0.055;0.091	B;B;B	0.20384	0.029;0.013;0.029	T	0.13818	-1.0495	10	0.02654	T	1	.	14.8379	0.70197	0.0:1.0:0.0:0.0	.	139;71;57	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	E	71;139;139;71;71;57;57	ENSP00000420707:Q71E;ENSP00000319087:Q139E;ENSP00000446290:Q139E;ENSP00000360493:Q71E;ENSP00000360491:Q71E;ENSP00000352514:Q57E;ENSP00000360486:Q57E	ENSP00000319087:Q139E	Q	+	1	0	RUNX2	45498460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.268000	0.33062	1.622000	0.50330	0.407000	0.27541	CAG		0.716	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	47	0	0	0	1	0	3	47				
SPATA8	145946	broad.mit.edu	37	15	97326808	97326808	+	De_novo_Start_InFrame	SNP	A	A	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr15:97326808A>T	ENST00000328504.3	+	0	190				SPATA8-AS1_ENST00000558722.1_RNA|SPATA8-AS1_ENST00000560888.1_RNA|SPATA8_ENST00000558553.1_De_novo_Start_InFrame	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8											large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			CGCTAAGCCCAGGGATCCACT	0.567																																						ENST00000328504.3																			0				large_intestine(4)|lung(8)|ovary(1)|skin(3)	16								spermatogenesis associated 8																																						145946							g.chr15:97326808A>T	AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847		15.37:g.97326808A>T						SPATA8_ENST00000558553.1_De_novo_Start_InFrame		NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0718)		0	190	+	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)							Q2KJ07	Translation_Start_Site	SNP	ENST00000328504.3	37		CCDS10376.1																																																																																				0.567	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499		3	50	0	0	0	1	0	3	50				
PCNXL3	399909	broad.mit.edu	37	11	65380919	65380919	+	5'Flank	SNP	A	A	C			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr11:65380919A>C	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Silent_p.G103G|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCGGGCCGCCACCCCGAGACA	0.687																																						ENST00000309100.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(307-309)ggT>ggG		mitogen-activated protein kinase kinase kinase 11							30.0	32.0	31.0					11																	65380919		2199	4295	6494	SO:0001631	upstream_gene_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65380919A>C	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65380919A>C	Exception_encountered						p.G103G	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN			1	794	-			103			Gly-rich.|SH3.		Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.309T>G	CCDS44650.1																																																																																				0.687	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		9	113	0	0	0	1	0	9	113				
ARID4A	5926	broad.mit.edu	37	14	58795010	58795010	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr14:58795010T>G	ENST00000355431.3	+	9	1011	c.638T>G	c.(637-639)gTt>gGt	p.V213G	ARID4A_ENST00000348476.3_Missense_Mutation_p.V213G|ARID4A_ENST00000395168.3_Missense_Mutation_p.V213G|ARID4A_ENST00000431317.2_Missense_Mutation_p.V213G	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	213					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAGTGTTTAGTTCGATCATTT	0.333																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(637-639)gTt>gGt		AT rich interactive domain 4A (RBP1-like)							127.0	122.0	124.0					14																	58795010		2203	4294	6497	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58795010T>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.638T>G	14.37:g.58795010T>G	ENSP00000347602:p.Val213Gly					ARID4A_ENST00000395168.3_Missense_Mutation_p.V213G|ARID4A_ENST00000431317.2_Missense_Mutation_p.V213G|ARID4A_ENST00000348476.3_Missense_Mutation_p.V213G	p.V213G	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			9	1011	+			213					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.638T>G	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.744710	0.89663	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000431317	T;T;T;T	0.29917	1.56;1.55;1.58;1.55	5.52	5.52	0.82312	RBB1NT (1);	0.165435	0.53938	D	0.000059	T	0.57740	0.2074	M	0.79693	2.465	0.80722	D	1	D;P;P	0.67145	0.996;0.869;0.752	D;P;P	0.69307	0.963;0.851;0.699	T	0.64015	-0.6506	10	0.87932	D	0	-5.0776	15.7076	0.77598	0.0:0.0:0.0:1.0	.	213;213;213	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	G	213;213;213;176;213	ENSP00000347602:V213G;ENSP00000344556:V213G;ENSP00000378597:V213G;ENSP00000397368:V213G	ENSP00000344556:V213G	V	+	2	0	ARID4A	57864763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.983000	0.70540	2.126000	0.65437	0.524000	0.50904	GTT		0.333	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		15	20	0	0	0	1	0	15	20				
PIK3CG	5294	broad.mit.edu	37	7	106508394	106508394	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr7:106508394C>T	ENST00000359195.3	+	2	698	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R130W|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R130W	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	130	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGCCACGCACCGGAGCCCGGG	0.637																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(388-390)Cgg>Tgg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							19.0	21.0	21.0					7																	106508394		2203	4298	6501	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508394C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.388C>T	7.37:g.106508394C>T	ENSP00000352121:p.Arg130Trp					PIK3CG_ENST00000440650.2_Missense_Mutation_p.R130W|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R130W	p.R130W	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	698	+			130					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.388C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	9.370	1.070184	0.20147	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70282	-0.47;-0.47;-0.47	5.52	-11.0	0.00169	.	0.373486	0.30109	N	0.010382	T	0.42832	0.1220	N	0.08118	0	0.09310	N	1	P	0.41978	0.767	B	0.34452	0.183	T	0.53774	-0.8391	10	0.72032	D	0.01	-10.5105	21.6521	0.99958	0.7435:0.2565:0.0:0.0	.	130	P48736	PK3CG_HUMAN	W	130	ENSP00000392258:R130W;ENSP00000419260:R130W;ENSP00000352121:R130W	ENSP00000352121:R130W	R	+	1	2	PIK3CG	106295630	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	-0.063000	0.11655	-1.658000	0.01490	0.467000	0.42956	CGG		0.637	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			33	39	0	0	0	1	0	33	39				
CD86	942	broad.mit.edu	37	3	121825307	121825307	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:121825307A>C	ENST00000330540.2	+	4	779	c.663A>C	c.(661-663)gaA>gaC	p.E221D	CD86_ENST00000493101.1_Missense_Mutation_p.E109D|CD86_ENST00000469710.1_Missense_Mutation_p.E139D|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.E215D	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	221	Ig-like C2-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	GTATTCTGGAAACTGACAAGA	0.388																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(661-663)gaA>gaC		CD86 molecule	Abatacept(DB01281)						193.0	180.0	184.0					3																	121825307		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121825307A>C		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.663A>C	3.37:g.121825307A>C	ENSP00000332049:p.Glu221Asp					CD86_ENST00000393627.2_Missense_Mutation_p.E215D|CD86_ENST00000493101.1_Missense_Mutation_p.E109D|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.E139D	p.E221D	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	4	779	+			221			Ig-like C2-type.		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.663A>C	CCDS3009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.78|13.78	2.338041|2.338041	0.41398|0.41398	.|.	.|.	ENSG00000114013|ENSG00000114013	ENST00000469710;ENST00000493101;ENST00000330540;ENST00000393627|ENST00000478741	T;T;T;T|.	0.15834|.	2.68;2.39;2.68;2.68|.	5.09|5.09	-3.09|-3.09	0.05331|0.05331	.|.	1.633870|.	0.03229|.	N|.	0.178639|.	T|T	0.26738|0.26738	0.0654|0.0654	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	0.999999|0.999999	B;P|.	0.36086|.	0.187;0.536|.	B;B|.	0.40256|.	0.08;0.324|.	T|T	0.33033|0.33033	-0.9884|-0.9884	10|5	0.72032|.	D|.	0.01|.	2.5669|2.5669	6.3984|6.3984	0.21624|0.21624	0.4303:0.1474:0.4223:0.0|0.4303:0.1474:0.4223:0.0	.|.	109;221|.	E9PC27;P42081|.	.;CD86_HUMAN|.	D|H	139;109;221;215|217	ENSP00000418988:E139D;ENSP00000420230:E109D;ENSP00000332049:E221D;ENSP00000377248:E215D|.	ENSP00000332049:E221D|.	E|N	+|+	3|1	2|0	CD86|CD86	123307997|123307997	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.031000|0.031000	0.12232|0.12232	0.041000|0.041000	0.13927|0.13927	-0.394000|-0.394000	0.07727|0.07727	0.533000|0.533000	0.62120|0.62120	GAA|AAC		0.388	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		47	153	0	0	0	1	0	47	153				
KRT6C	286887	broad.mit.edu	37	12	52865910	52865910	+	Missense_Mutation	SNP	C	C	T	rs370835586		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr12:52865910C>T	ENST00000252250.6	-	2	742	c.695G>A	c.(694-696)cGg>cAg	p.R232Q		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	232	Coil 1B.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CAGGCGGCCCCGTTCCCCGAC	0.572																																						ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(694-696)cGg>cAg		keratin 6C							142.0	97.0	112.0					12																	52865910		2203	4300	6503	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52865910C>T	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.695G>A	12.37:g.52865910C>T	ENSP00000252250:p.Arg232Gln						p.R232Q	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	2	742	-			232			Coil 1B.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.695G>A	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105070	0.37145	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.90197	-2.63	2.89	-0.063	0.13778	Filament (1);	0.307385	0.27126	N	0.020819	D	0.91219	0.7233	L	0.51853	1.615	0.09310	N	1	D	0.76494	0.999	D	0.68943	0.961	D	0.83562	0.0107	10	0.42905	T	0.14	.	8.4991	0.33148	0.0:0.5396:0.0:0.4604	.	232	P48668	K2C6C_HUMAN	Q	232;217	ENSP00000252250:R232Q	ENSP00000252250:R232Q	R	-	2	0	KRT6C	51152177	0.253000	0.23982	0.003000	0.11579	0.010000	0.07245	1.334000	0.33827	-0.030000	0.13804	-0.481000	0.04817	CGG		0.572	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		100	24	0	0	0	1	0	100	24				
PODXL2	50512	broad.mit.edu	37	3	127358250	127358250	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:127358250G>T	ENST00000342480.6	+	2	272	c.233G>T	c.(232-234)gGc>gTc	p.G78V		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	78					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GGAGCCCCTGGCTCAGGCTTC	0.597																																						ENST00000342480.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						c.(232-234)gGc>gTc		podocalyxin-like 2							37.0	43.0	41.0					3																	127358250		2203	4300	6503	SO:0001583	missense	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127358250G>T	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.233G>T	3.37:g.127358250G>T	ENSP00000345359:p.Gly78Val						p.G78V	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN			2	272	+			78					Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	c.233G>T	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601709	0.87055	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.38560	1.13	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000005	T	0.57740	0.2074	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58470	-0.7631	10	0.87932	D	0	-32.3928	20.2508	0.98407	0.0:0.0:1.0:0.0	.	78	Q9NZ53	PDXL2_HUMAN	V	78	ENSP00000345359:G78V	ENSP00000304498:G78V	G	+	2	0	PODXL2	128840940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.408000	0.73285	2.788000	0.95919	0.585000	0.79938	GGC		0.597	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		30	46	1	0	5.45727e-16	1	6.4495e-16	30	46				
OR51G1	79324	broad.mit.edu	37	11	4944753	4944753	+	Missense_Mutation	SNP	C	C	T	rs565245626		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr11:4944753C>T	ENST00000321961.2	-	1	884	c.817G>A	c.(817-819)Gtt>Att	p.V273I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGTGTACAACGCGGGGCAGA	0.493																																						ENST00000321961.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(817-819)Gtt>Att		olfactory receptor, family 51, subfamily G, member 1							202.0	168.0	180.0					11																	4944753		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944753C>T	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.817G>A	11.37:g.4944753C>T	ENSP00000322546:p.Val273Ile					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.V273I	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	884	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	273					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.817G>A	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.507679	0.00155	.	.	ENSG00000176879	ENST00000321961	T	0.00115	8.71	4.53	-0.713	0.11223	GPCR, rhodopsin-like superfamily (1);	1.246050	0.06077	N	0.661196	T	0.00073	0.0002	N	0.13140	0.3	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03898	-1.0994	10	0.14252	T	0.57	.	2.6694	0.05063	0.1208:0.1639:0.1236:0.5917	.	273	Q8NGK1	O51G1_HUMAN	I	273	ENSP00000322546:V273I	ENSP00000322546:V273I	V	-	1	0	OR51G1	4901329	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.657000	0.05335	-0.029000	0.13827	-1.375000	0.01183	GTT		0.493	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		5	106	0	0	0	1	0	5	106				
KIAA1244	57221	broad.mit.edu	37	6	138584324	138584324	+	Silent	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr6:138584324G>T	ENST00000251691.4	+	12	1870	c.1704G>T	c.(1702-1704)acG>acT	p.T568T		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAAGCCACACGGTCCCTTACC	0.507																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(1702-1704)acG>acT		KIAA1244							96.0	86.0	89.0					6																	138584324		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138584324G>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1704G>T	6.37:g.138584324G>T							p.T568T	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	1870	+	Breast(32;0.135)		568						Silent	SNP	ENST00000251691.4	37	c.1704G>T	CCDS5189.2																																																																																				0.507	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		10	118	1	0	1.76689e-08	1	1.96882e-08	10	118				
LOC102723335	102723335	broad.mit.edu	37	15	101098883	101098883	+	RNA	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr15:101098883G>A	ENST00000559349.1	+	0	2				RP11-526I2.1_ENST00000557839.1_RNA|RNU6-181P_ENST00000363225.1_RNA																							CAATGTGCACGTGCTGCTCCT	0.587																																						ENST00000559349.1																			0																																																			0							g.chr15:101098883G>A																													15.37:g.101098883G>A														0	2	+									RNA	SNP	ENST00000559349.1	37																																																																																						0.587	RP11-526I2.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000418034.1			6	22	0	0	0	1	0	6	22				
HSPB7	27129	broad.mit.edu	37	1	16342195	16342195	+	Silent	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:16342195G>A	ENST00000311890.9	-	3	1219	c.393C>T	c.(391-393)gaC>gaT	p.D131D	HSPB7_ENST00000406363.2_Silent_p.D135D|HSPB7_ENST00000375718.4_Silent_p.D206D|HSPB7_ENST00000411503.1_Silent_p.D126D|HSPB7_ENST00000487046.1_Silent_p.D136D	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	131					regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGGTCCACGTCCTCCGGCA	0.677																																						ENST00000311890.9																			0				breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10						c.(391-393)gaC>gaT		heat shock 27kDa protein family, member 7 (cardiovascular)							76.0	69.0	72.0					1																	16342195		2203	4299	6502	SO:0001819	synonymous_variant	27129				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding	g.chr1:16342195G>A	AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"""Heat shock proteins / HSPB"""	5249	protein-coding gene	gene with protein product		610692	"""heat shock 27kD protein family, member 7 (cardiovascular)"""			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.393C>T	1.37:g.16342195G>A						HSPB7_ENST00000411503.1_Silent_p.D126D|HSPB7_ENST00000406363.2_Silent_p.D135D|HSPB7_ENST00000375718.4_Silent_p.D206D|HSPB7_ENST00000487046.1_Silent_p.D136D	p.D131D	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	3	1219	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	131					B3KQ37|C9K0Y0|Q9NU17	Silent	SNP	ENST00000311890.9	37	c.393C>T	CCDS30611.1																																																																																				0.677	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026334.2	NM_014424		72	48	0	0	0	1	0	72	48				
POTEC	388468	broad.mit.edu	37	18	14543050	14543050	+	Silent	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr18:14543050G>A	ENST00000358970.5	-	1	95	c.96C>T	c.(94-96)ttC>ttT	p.F32F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	32										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCAGCAGGGGAAGCGGTGGT	0.552																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(94-96)ttC>ttT		POTE ankyrin domain family, member C							113.0	98.0	103.0					18																	14543050		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14543050G>A	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.96C>T	18.37:g.14543050G>A						POTEC_ENST00000389891.4_5'UTR	p.F32F	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	95	-			32						Silent	SNP	ENST00000358970.5	37	c.96C>T	CCDS45835.1																																																																																				0.552	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		119	114	0	0	0	1	0	119	114				
WDR7	23335	broad.mit.edu	37	18	54385303	54385303	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr18:54385303A>G	ENST00000254442.3	+	13	1898	c.1687A>G	c.(1687-1689)Att>Gtt	p.I563V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.I563V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	563					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CCTTTTTCCTATTCAAGTAAT	0.443																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(1687-1689)Att>Gtt		WD repeat domain 7							191.0	171.0	178.0					18																	54385303		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54385303A>G	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1687A>G	18.37:g.54385303A>G	ENSP00000254442:p.Ile563Val					WDR7_ENST00000357574.3_Missense_Mutation_p.I563V|WDR7_ENST00000589935.1_Intron	p.I563V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	13	1898	+			563					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.1687A>G	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.600559	0.28534	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.51071	0.72;0.72	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30727	0.0774	N	0.00403	-1.54	0.58432	D	0.999994	B;D	0.53151	0.22;0.958	B;D	0.70716	0.192;0.97	T	0.49916	-0.8888	10	0.02654	T	1	.	15.413	0.74943	1.0:0.0:0.0:0.0	.	563;563	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	563	ENSP00000254442:I563V;ENSP00000350187:I563V	ENSP00000254442:I563V	I	+	1	0	WDR7	52536301	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.266000	0.72540	2.127000	0.65507	0.533000	0.62120	ATT		0.443	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			36	99	0	0	0	1	0	36	99				
HOXD12	3238	broad.mit.edu	37	2	176964703	176964703	+	Silent	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:176964703C>T	ENST00000406506.2	+	1	246	c.174C>T	c.(172-174)tgC>tgT	p.C58C	HOXD12_ENST00000404162.2_Silent_p.C58C			P35452	HXD12_HUMAN	homeobox D12	58					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCGCCTCCTGCGCCCCCGCGC	0.741																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(172-174)tgC>tgT		homeobox D12							8.0	10.0	9.0					2																	176964703		1578	3605	5183	SO:0001819	synonymous_variant	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964703C>T		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.174C>T	2.37:g.176964703C>T						HOXD12_ENST00000404162.2_Silent_p.C58C	p.C58C			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	246	+			58					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Silent	SNP	ENST00000406506.2	37	c.174C>T	CCDS46456.1																																																																																				0.741	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		7	30	0	0	0	1	0	7	30				
SEPT5	5413	broad.mit.edu	37	22	19709220	19709220	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr22:19709220C>T	ENST00000455784.2	+	9	900	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	SEPT5_ENST00000438754.2_Missense_Mutation_p.R268W|SEPT5_ENST00000406395.1_Missense_Mutation_p.R259W|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000383045.3_Missense_Mutation_p.R268W	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	259	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CAAGGGGCAGCGGGTCCGGGG	0.672																																						ENST00000438754.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(802-804)Cgg>Tgg		septin 5							39.0	50.0	46.0					22																	19709220		2203	4299	6502	SO:0001583	missense	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19709220C>T	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.775C>T	22.37:g.19709220C>T	ENSP00000391311:p.Arg259Trp					SEPT5_ENST00000383045.3_Missense_Mutation_p.R268W|SEPT5_ENST00000455784.2_Missense_Mutation_p.R259W|SEPT5_ENST00000406395.1_Missense_Mutation_p.R259W	p.R268W	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN			8	1082	+	Colorectal(54;0.0993)		259					O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	c.802C>T	CCDS13764.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726227	0.69074	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	3.92	2.87	0.33458	.	0.000000	0.64402	D	0.000001	T	0.67664	0.2917	M	0.87097	2.86	0.53005	D	0.999967	D	0.89917	1.0	D	0.78314	0.991	T	0.69731	-0.5066	10	0.87932	D	0	.	7.7812	0.29066	0.5068:0.3578:0.1354:0.0	.	259	Q99719	SEPT5_HUMAN	W	259;259;212;297;268;268	ENSP00000391311:R259W;ENSP00000384535:R259W;ENSP00000408678:R212W;ENSP00000414488:R297W;ENSP00000372515:R268W;ENSP00000394541:R268W	ENSP00000372515:R268W	R	+	1	2	SEPT5	18089220	0.910000	0.30920	0.823000	0.32752	0.878000	0.50629	0.160000	0.16462	0.984000	0.38629	0.478000	0.44815	CGG		0.672	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		31	120	0	0	0	1	0	31	120				
GH2	2689	broad.mit.edu	37	17	61959155	61959155	+	Missense_Mutation	SNP	C	C	T	rs148779841		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr17:61959155C>T	ENST00000423893.2	-	1	68	c.7G>A	c.(7-9)Gca>Aca	p.A3T	GH2_ENST00000456543.2_Missense_Mutation_p.A3T|GH2_ENST00000332800.7_Missense_Mutation_p.A3T|GH2_ENST00000449787.2_Missense_Mutation_p.A3T			P01242	SOM2_HUMAN	growth hormone 2	3					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.A3T(2)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CGCTTACCTGCAGCCATTGCC	0.597																																						ENST00000332800.7																			2	Substitution - Missense(2)	p.A3T(2)	lung(2)	breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						c.(7-9)Gca>Aca		growth hormone 2							77.0	77.0	77.0					17																	61959155		2203	4298	6501	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61959155C>T	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.7G>A	17.37:g.61959155C>T	ENSP00000409294:p.Ala3Thr					GH2_ENST00000449787.2_Missense_Mutation_p.A3T|GH2_ENST00000423893.2_Missense_Mutation_p.A3T|GH2_ENST00000456543.2_Missense_Mutation_p.A3T	p.A3T	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN			1	140	-			3					B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.7G>A	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	c	14.11	2.437770	0.43326	.	.	ENSG00000136487	ENST00000332800;ENST00000456543;ENST00000423893;ENST00000449787	D;D;D;D	0.87966	-2.27;-2.32;-2.29;-2.27	2.81	0.324	0.15898	.	2.162650	0.02469	N	0.087359	D	0.84419	0.5468	M	0.61703	1.905	0.19775	N	0.999958	B;B;B;B;B	0.24317	0.001;0.0;0.005;0.101;0.001	B;B;B;B;B	0.23574	0.004;0.002;0.007;0.047;0.004	T	0.65520	-0.6148	10	0.48119	T	0.1	.	3.8655	0.09015	0.0:0.5946:0.2501:0.1553	.	3;3;3;3;3	P01242;O14643;O14644;B1A4H7;B1A4H5	SOM2_HUMAN;.;.;.;.	T	3	ENSP00000333157:A3T;ENSP00000394122:A3T;ENSP00000409294:A3T;ENSP00000410618:A3T	ENSP00000333157:A3T	A	-	1	0	GH2	59312887	0.465000	0.25815	0.996000	0.52242	0.174000	0.22865	-0.755000	0.04782	0.463000	0.27118	0.313000	0.20887	GCA		0.597	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		4	85	0	0	0	1	0	4	85				
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7981-7983)Cga>Tga		kalirin, RhoGEF kinase							132.0	121.0	125.0					3																	124418865		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124418865C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2890C>T	3.37:g.124418865C>T	ENSP00000291478:p.Arg964*					KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*	p.R2661*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			56	8108	+			2660					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	37	c.7981C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	42	9.571042	0.99208	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	.	.	.	6.17	3.15	0.36227	.	0.209202	0.31347	N	0.007809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1047	0.65080	0.6612:0.3388:0.0:0.0	.	.	.	.	X	2661;964;932	.	ENSP00000291478:R964X	R	+	1	2	KALRN	125901555	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.467000	0.35321	0.920000	0.36970	-0.152000	0.13540	CGA		0.597	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		4	211	0	0	0	1	0	4	211				
TRPM2	7226	broad.mit.edu	37	21	45844759	45844759	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr21:45844759C>T	ENST00000397928.1	+	24	4019	c.3574C>T	c.(3574-3576)Cac>Tac	p.H1192Y	TRPM2_ENST00000300481.9_Missense_Mutation_p.H1172Y|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.H1192Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.H1242Y	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1192					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCAAGCCCTGCACTGGATCGT	0.682																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(3574-3576)Cac>Tac		transient receptor potential cation channel, subfamily M, member 2							19.0	18.0	19.0					21																	45844759		2199	4294	6493	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45844759C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3574C>T	21.37:g.45844759C>T	ENSP00000381023:p.His1192Tyr					TRPM2_ENST00000397932.2_Missense_Mutation_p.H1242Y|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.H1192Y|TRPM2_ENST00000300481.9_Missense_Mutation_p.H1172Y	p.H1192Y	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			24	4019	+			1192					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3574C>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	7.911	0.736558	0.15574	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.75821	1.58;1.58;1.58;-0.97	3.75	1.42	0.22433	.	0.569350	0.17928	N	0.157277	T	0.56920	0.2018	L	0.44542	1.39	0.26320	N	0.97769	P;B;B	0.39424	0.673;0.143;0.086	B;B;B	0.31614	0.133;0.037;0.023	T	0.52117	-0.8618	10	0.49607	T	0.09	-12.0427	4.4778	0.11752	0.4282:0.4449:0.0:0.1269	.	1242;978;1192	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	Y	1192;1192;1172;1242	ENSP00000300482:H1192Y;ENSP00000381023:H1192Y;ENSP00000300481:H1172Y;ENSP00000381026:H1242Y	ENSP00000300481:H1172Y	H	+	1	0	TRPM2	44669187	0.002000	0.14202	0.595000	0.28798	0.126000	0.20510	-0.353000	0.07691	0.707000	0.31934	0.543000	0.68304	CAC		0.682	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		12	8	0	0	0	1	0	12	8				
MAPKBP1	23005	broad.mit.edu	37	15	42109861	42109861	+	Missense_Mutation	SNP	C	C	T	rs375353103		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr15:42109861C>T	ENST00000456763.2	+	17	2046	c.1850C>T	c.(1849-1851)aCg>aTg	p.T617M	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.T611M|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.T494M|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.T450M|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.T611M	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	617										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GTGCGGAAGACGACCCTCTAT	0.612													c|||	1	0.000199681	0.0	0.0014	5008	,	,		18004	0.0		0.0	False		,,,				2504	0.0					ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1831-1833)aCg>aTg		mitogen-activated protein kinase binding protein 1		C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	90.0	74.0	79.0		1850,1832	5.5	1.0	15		79	0,8600		0,0,4300	no	missense,missense	MAPKBP1	NM_001128608.1,NM_014994.2	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	617/1515,611/1509	42109861	1,13005	2203	4300	6503	SO:0001583	missense	23005							g.chr15:42109861C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1850C>T	15.37:g.42109861C>T	ENSP00000393099:p.Thr617Met					MAPKBP1_ENST00000456763.2_Missense_Mutation_p.T617M|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.T494M|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.T450M|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.T611M	p.T611M	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	16	2118	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	617					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1832C>T	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	c	34	5.329909	0.95733	2.27E-4	0.0	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.66280	1.56;1.56;0.77;-0.2;1.13	5.52	5.52	0.82312	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80778	0.4688	M	0.79258	2.445	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.79784	0.992;0.993;0.991;0.972;0.988	T	0.82682	-0.0336	10	0.87932	D	0	-9.8343	19.4398	0.94813	0.0:1.0:0.0:0.0	.	450;494;611;617;611	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	M	611;494;450;617;611	ENSP00000397570:T611M;ENSP00000221214:T494M;ENSP00000260357:T450M;ENSP00000393099:T617M;ENSP00000426154:T611M	ENSP00000221214:T494M	T	+	2	0	MAPKBP1	39897153	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.077000	0.71275	2.590000	0.87494	0.563000	0.77884	ACG		0.612	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		27	20	0	0	0	1	0	27	20				
MTSS1	9788	broad.mit.edu	37	8	125711778	125711778	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr8:125711778G>T	ENST00000518547.1	-	3	670	c.197C>A	c.(196-198)aCc>aAc	p.T66N	MTSS1_ENST00000325064.5_Missense_Mutation_p.T66N|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.T66N	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	66	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACGTGTGTTGGTGGCCATGTC	0.493																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(196-198)aCc>aAc		metastasis suppressor 1							163.0	118.0	134.0					8																	125711778		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125711778G>T	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.197C>A	8.37:g.125711778G>T	ENSP00000429064:p.Thr66Asn					MTSS1_ENST00000325064.5_Missense_Mutation_p.T66N|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.T66N	p.T66N	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		3	670	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		66			IMD.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.197C>A	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.057149|4.057149	0.76074|0.76074	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000522162|ENST00000378017;ENST00000518547;ENST00000325064	.|T;T;T	.|0.34859	.|1.34;1.37;1.37	5.48|5.48	5.48|5.48	0.80851|0.80851	.|IRSp53/MIM homology domain (IMD) (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57154|0.57154	0.2034|0.2034	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	.|D;B;P	.|0.65815	.|0.995;0.013;0.775	.|D;B;B	.|0.69479	.|0.964;0.111;0.41	T|T	0.52563|0.52563	-0.8559|-0.8559	5|10	.|0.40728	.|T	.|0.16	-25.1392|-25.1392	18.9393|18.9393	0.92598|0.92598	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|66;66;66	.|A5YM41;O43312;O43312-4	.|.;MTSS1_HUMAN;.	T|N	61|66	.|ENSP00000367256:T66N;ENSP00000429064:T66N;ENSP00000322804:T66N	.|ENSP00000322804:T66N	P|T	-|-	1|2	0|0	MTSS1|MTSS1	125780959|125780959	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.378000|6.378000	0.73150|0.73150	2.565000|2.565000	0.86533|0.86533	0.650000|0.650000	0.86243|0.86243	CCA|ACC		0.493	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		26	24	1	0	2.41591e-17	1	2.89909e-17	26	24				
ZNF254	9534	broad.mit.edu	37	19	24309473	24309473	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr19:24309473C>T	ENST00000357002.4	+	4	786	c.671C>T	c.(670-672)aCc>aTc	p.T224I	ZNF254_ENST00000342944.6_Missense_Mutation_p.T139I	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	224					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T224I(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGGTCCTCAACCCTTACTAAT	0.328																																						ENST00000357002.4																			1	Substitution - Missense(1)	p.T224I(1)	lung(1)								c.(670-672)aCc>aTc		zinc finger protein 254							46.0	51.0	49.0					19																	24309473		2203	4290	6493	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309473C>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.671C>T	19.37:g.24309473C>T	ENSP00000349494:p.Thr224Ile					ZNF254_ENST00000342944.6_Missense_Mutation_p.T139I	p.T224I	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	786	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	224					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.671C>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	C	4.300	0.054855	0.08291	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.52754	0.65;0.65	1.12	-0.692	0.11301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37517	0.1006	L	0.41079	1.255	0.09310	N	1	B	0.33345	0.409	B	0.40009	0.316	T	0.35599	-0.9782	9	0.23891	T	0.37	.	6.3605	0.21425	0.0:0.6908:0.3092:0.0	.	224	O75437	ZN254_HUMAN	I	139;224;224	ENSP00000445527:T139I;ENSP00000349494:T224I	ENSP00000445527:T139I	T	+	2	0	ZNF254	24101313	0.000000	0.05858	0.444000	0.26895	0.442000	0.32017	-4.346000	0.00249	0.536000	0.28733	0.313000	0.20887	ACC		0.328	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		22	51	0	0	0	1	0	22	51				
FOCAD	54914	broad.mit.edu	37	9	20862655	20862655	+	Silent	SNP	C	C	T	rs374337191		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr9:20862655C>T	ENST00000380249.1	+	18	2363	c.1999C>T	c.(1999-2001)Ctg>Ttg	p.L667L	FOCAD_ENST00000605086.1_Silent_p.L103L|FOCAD_ENST00000338382.6_Silent_p.L667L	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	667						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TCTGAAGACACTGAGTGAACT	0.428																																						ENST00000380249.1																			0											c.(1999-2001)Ctg>Ttg		focadhesin							213.0	179.0	191.0					9																	20862655		2203	4300	6503	SO:0001819	synonymous_variant	54914					integral to membrane	binding	g.chr9:20862655C>T	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1999C>T	9.37:g.20862655C>T						FOCAD_ENST00000605086.1_Silent_p.L103L|FOCAD_ENST00000338382.6_Silent_p.L667L	p.L667L	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			18	2363	+			667					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	c.1999C>T	CCDS34993.1																																																																																				0.428	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		67	8	0	0	0	1	0	67	8				
USH2A	7399	broad.mit.edu	37	1	216595499	216595499	+	Silent	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:216595499G>A	ENST00000307340.3	-	2	566	c.180C>T	c.(178-180)ctC>ctT	p.L60L	USH2A_ENST00000366943.2_Silent_p.L60L|USH2A_ENST00000366942.3_Silent_p.L60L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	60					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCGGTCTGGGAGTCCACATA	0.483										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(178-180)ctC>ctT		Usher syndrome 2A (autosomal recessive, mild)							96.0	96.0	96.0					1																	216595499		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216595499G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.180C>T	1.37:g.216595499G>A		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.L60L|USH2A_ENST00000366942.3_Silent_p.L60L	p.L60L			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	2	566	-			60					Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.180C>T	CCDS31025.1																																																																																				0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		37	28	0	0	0	1	0	37	28				
SCN1A	6323	broad.mit.edu	37	2	166908389	166908389	+	Silent	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:166908389C>T	ENST00000303395.4	-	6	803	c.804G>A	c.(802-804)ctG>ctA	p.L268L	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.L268L|SCN1A_ENST00000409050.1_Silent_p.L268L|SCN1A_ENST00000423058.2_Silent_p.L268L			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	268					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCCCATGAACAGCTGCAGCC	0.433																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(802-804)ctG>ctA		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						98.0	98.0	98.0					2																	166908389		2203	4299	6502	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166908389C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.804G>A	2.37:g.166908389C>T						AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.L268L|SCN1A_ENST00000303395.4_Silent_p.L268L|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.L268L	p.L268L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			6	821	-			268					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.804G>A	CCDS54413.1																																																																																				0.433	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		25	79	0	0	0	1	0	25	79				
SKIV2L2	23517	broad.mit.edu	37	5	54619970	54619970	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr5:54619970C>A	ENST00000230640.5	+	3	537	c.283C>A	c.(283-285)Ctg>Atg	p.L95M	SKIV2L2_ENST00000545714.1_Intron|SKIV2L2_ENST00000504388.1_3'UTR	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	95					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTTGGCAGACCTGATGCCCAG	0.348																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(283-285)Ctg>Atg		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							85.0	74.0	77.0					5																	54619970		2203	4300	6503	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54619970C>A	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.283C>A	5.37:g.54619970C>A	ENSP00000230640:p.Leu95Met					SKIV2L2_ENST00000504388.1_3'UTR|SKIV2L2_ENST00000545714.1_Intron	p.L95M	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			3	537	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	95					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.283C>A	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334145	0.41297	.	.	ENSG00000039123	ENST00000230640	T	0.32753	1.44	5.55	1.46	0.22682	.	0.381316	0.27076	N	0.021045	T	0.24928	0.0605	L	0.50333	1.59	0.80722	D	1	B	0.26845	0.161	B	0.23018	0.043	T	0.05321	-1.0892	10	0.46703	T	0.11	-27.398	9.1943	0.37217	0.0:0.6743:0.0:0.3257	.	95	P42285	SK2L2_HUMAN	M	95	ENSP00000230640:L95M	ENSP00000230640:L95M	L	+	1	2	SKIV2L2	54655727	0.869000	0.29996	0.998000	0.56505	0.944000	0.59088	0.587000	0.23909	0.206000	0.20587	0.655000	0.94253	CTG		0.348	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			6	18	1	0	3.59834e-05	1	3.79284e-05	6	18				
GTPBP6	8225	broad.mit.edu	37	X	229480	229480	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chrX:229480G>A	ENST00000326153.4	-	2	181	c.182C>T	c.(181-183)aCg>aTg	p.T61M				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	290							GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.D60D(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTCCCGCCTCGTCCGCTGCCG	0.662																																						ENST00000326153.4																			1	Substitution - coding silent(1)	p.D60D(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7						c.(181-183)aCg>aTg		GTP binding protein 6 (putative)			MET/THR	10,4014		0,10,2002	45.0	57.0	53.0		183	-2.1	0.1	X		53	1,8275		0,1,4137	no	missense	GTPBP6	NM_012227.2	81	0,11,6139	AA,AG,GG		0.0121,0.2485,0.0894	probably-damaging	290/517	229480	11,12289	2012	4138	6150	SO:0001583	missense	8225					intracellular	GTP binding	g.chrX:229480G>A	Y14391	CCDS75943.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000178605	ENSG00000178605		"""Pseudoautosomal regions / PAR1"""	30189	protein-coding gene	gene with protein product	"""pseudoautosomal GTP binding protein-like"""	300124				9466997	Standard	XM_006724447		Approved	PGPL, FLJ20977	uc004cpe.1	O43824	OTTHUMG00000022694	ENST00000326153.4:c.182C>T	X.37:g.229480G>A	ENSP00000316598:p.Thr61Met						p.T61M			O43824	GTPB6_HUMAN			2	181	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	290					Q53F77|Q5HYX8	Missense_Mutation	SNP	ENST00000326153.4	37	c.182C>T		.	.	.	.	.	.	.	.	.	.	G	0.363	-0.938158	0.02340	0.002485	1.21E-4	ENSG00000178605	ENST00000326153	.	.	.	1.37	-2.14	0.07123	.	0.962629	0.08441	U	0.945402	T	0.19167	0.0460	.	.	.	0.18873	N	0.999988	P;B	0.35684	0.515;0.28	B;B	0.26864	0.074;0.01	T	0.14364	-1.0475	7	0.56958	D	0.05	-1.7044	3.7476	0.08554	0.0:0.5576:0.248:0.1943	.	177;290	B4DPB2;O43824	.;GTPB6_HUMAN	M	61	.	ENSP00000316598:T61M	T	-	2	0	GTPBP6	169480	0.006000	0.16342	0.061000	0.19648	0.478000	0.33099	-0.113000	0.10774	-0.428000	0.07339	0.100000	0.15512	ACG		0.662	GTPBP6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_012227		29	10	0	0	0	1	0	29	10				
ANKRD30BL	554226	broad.mit.edu	37	2	132912341	132912341	+	Splice_Site	SNP	C	C	T	rs201696527		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:132912341C>T	ENST00000409867.1	-	4	757	c.508G>A	c.(508-510)Gct>Act	p.A170T	ANKRD30BL_ENST00000470729.1_5'UTR|RNU6-1132P_ENST00000459214.1_RNA			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	170								p.A170T(2)		endometrium(1)|kidney(3)	4						GTGTGGCCAGCCTGTAAAACA	0.313																																						ENST00000409867.1																			2	Substitution - Missense(2)	p.A170T(2)	kidney(2)	endometrium(1)|kidney(3)	4						c.e4-1		ankyrin repeat domain 30B-like																																				SO:0001630	splice_region_variant	554226							g.chr2:132912341C>T			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.508-1G>A	2.37:g.132912341C>T						ANKRD30BL_ENST00000470729.1_5'UTR	p.A170_splice							4	757	-								B8ZZL7	Splice_Site	SNP	ENST00000409867.1	37	c.507_splice		.	.	.	.	.	.	.	.	.	.	.	9.294	1.051484	0.19827	.	.	ENSG00000163046	ENST00000409867	T	0.64438	-0.1	0.569	-0.552	0.11818	.	.	.	.	.	T	0.49847	0.1581	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.42716	-0.9435	5	0.38643	T	0.18	.	.	.	.	.	.	.	.	T	170	ENSP00000386398:A170T	ENSP00000295181:A170T	A	-	1	0	ANKRD30BL	132628811	0.467000	0.25831	0.261000	0.24466	0.505000	0.33919	0.179000	0.16840	-0.292000	0.08999	0.184000	0.17185	GCT		0.313	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019	Missense_Mutation	4	11	0	0	0	1	0	4	11				
ZNF831	128611	broad.mit.edu	37	20	57766724	57766724	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr20:57766724G>T	ENST00000371030.2	+	1	650	c.650G>T	c.(649-651)gGg>gTg	p.G217V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	217							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTGGAGGAAGGGGACAAGGCC	0.687																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(649-651)gGg>gTg		zinc finger protein 831							26.0	33.0	30.0					20																	57766724		1884	4103	5987	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766724G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.650G>T	20.37:g.57766724G>T	ENSP00000360069:p.Gly217Val						p.G217V	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	650	+	all_lung(29;0.0085)		217					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.650G>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	9.137	1.012978	0.19277	.	.	ENSG00000124203	ENST00000371030	T	0.05717	3.4	5.17	1.91	0.25777	.	.	.	.	.	T	0.03651	0.0104	L	0.27053	0.805	0.09310	N	0.999997	B	0.34290	0.447	B	0.26094	0.066	T	0.41716	-0.9493	9	0.36615	T	0.2	-2.6229	2.9229	0.05774	0.2552:0.0:0.3942:0.3506	.	217	Q5JPB2	ZN831_HUMAN	V	217	ENSP00000360069:G217V	ENSP00000360069:G217V	G	+	2	0	ZNF831	57200119	0.001000	0.12720	0.076000	0.20297	0.275000	0.26752	0.912000	0.28597	0.558000	0.29135	0.561000	0.74099	GGG		0.687	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		32	124	1	0	4.00102e-26	1	4.95364e-26	32	124				
PRH1	5554	broad.mit.edu	37	12	11036812	11036812	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr12:11036812A>G	ENST00000428168.2	-	1	42	c.5T>C	c.(4-6)cTt>cCt	p.L2P	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	2						extracellular space (GO:0005615)				endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		CAGAATCAGAAGCATCTTGCA	0.488																																						ENST00000428168.2																			0				endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(4-6)cTt>cCt		proline-rich protein HaeIII subfamily 1							83.0	82.0	83.0					12																	11036812		2203	4300	6503	SO:0001583	missense	5554					extracellular space	protein binding	g.chr12:11036812A>G			12p13.2	2013-05-10			ENSG00000231887	ENSG00000231887			9366	protein-coding gene	gene with protein product		168730				3009472	Standard	NM_001291314		Approved	Pa	uc021qvf.1	P02810		ENST00000428168.2:c.5T>C	12.37:g.11036812A>G	ENSP00000412436:p.Leu2Pro					PRR4_ENST00000536668.1_5'UTR	p.L2P	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.245)	1	42	-			2					A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	ENST00000428168.2	37	c.5T>C		.	.	.	.	.	.	.	.	.	.	A	2.576	-0.298530	0.05532	.	.	ENSG00000231887	ENST00000428168	T	0.19806	2.12	1.24	-0.0563	0.13805	.	.	.	.	.	T	0.19485	0.0468	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.28332	-1.0047	6	0.87932	D	0	.	4.0058	0.09600	0.6174:0.3826:0.0:0.0	.	.	.	.	P	2	ENSP00000412436:L2P	ENSP00000412436:L2P	L	-	2	0	PRH1	10928079	0.593000	0.26840	0.068000	0.19968	0.236000	0.25371	0.934000	0.28910	-0.031000	0.13781	0.254000	0.18369	CTT		0.488	PRH1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006250		19	61	0	0	0	1	0	19	61				
GOLGA2P9	440518	broad.mit.edu	37	19	22785204	22785204	+	RNA	SNP	C	C	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr19:22785204C>A	ENST00000599738.1	+	0	0				RN7SL860P_ENST00000473738.2_RNA|CTC-457E21.3_ENST00000600260.1_RNA|AC011467.1_ENST00000408863.1_RNA																							GGCTCACCTGCTGGCCTGGGC	0.657																																						ENST00000600260.1																			0																																																			0							g.chr19:22785204C>A																													19.37:g.22785204C>A								NR_033899.1						0	1380	+									RNA	SNP	ENST00000599738.1	37																																																																																						0.657	CTC-457E21.6-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000464575.1			9	6	1	0	0.000274275	1	0.000285246	9	6				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	11	1	0	0.004672	1	0.00479495	3	11				
ESPNP	284729	broad.mit.edu	37	1	17046475	17046475	+	RNA	SNP	C	C	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:17046475C>A	ENST00000492551.1	-	0	177					NR_026567.1				espin pseudogene																		TAGTGCCTGACGAGAAGCCTC	0.622																																						ENST00000492551.1																			0																																																			0							g.chr1:17046475C>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17046475C>A								NR_026567.1						0	177	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.622	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			13	133	1	0	5.50884e-06	1	6.05196e-06	13	133				
TSEN2	80746	broad.mit.edu	37	3	12531391	12531391	+	Missense_Mutation	SNP	A	A	G	rs568361511		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:12531391A>G	ENST00000284995.6	+	2	479	c.92A>G	c.(91-93)cAt>cGt	p.H31R	TSEN2_ENST00000454502.2_Missense_Mutation_p.H31R|TSEN2_ENST00000314571.7_Missense_Mutation_p.H31R|TSEN2_ENST00000415684.1_Missense_Mutation_p.H31R|TSEN2_ENST00000444864.1_Missense_Mutation_p.H31R|TSEN2_ENST00000383797.5_Missense_Mutation_p.H31R|TSEN2_ENST00000402228.3_Missense_Mutation_p.H31R	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	31					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GGTCAGGACCATGGTCCTCTG	0.433																																						ENST00000444864.1																			0				central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						c.(91-93)cAt>cGt		TSEN2 tRNA splicing endonuclease subunit							109.0	102.0	104.0					3																	12531391		2203	4300	6503	SO:0001583	missense	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12531391A>G	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.92A>G	3.37:g.12531391A>G	ENSP00000284995:p.His31Arg					TSEN2_ENST00000454502.2_Missense_Mutation_p.H31R|TSEN2_ENST00000415684.1_Missense_Mutation_p.H31R|TSEN2_ENST00000383797.5_Missense_Mutation_p.H31R|TSEN2_ENST00000314571.7_Missense_Mutation_p.H31R|TSEN2_ENST00000284995.6_Missense_Mutation_p.H31R|TSEN2_ENST00000402228.3_Missense_Mutation_p.H31R	p.H31R	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN			2	479	+			31					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	ENST00000284995.6	37	c.92A>G	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	.	0.884	-0.727707	0.03158	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.53423	0.63;0.63;0.64;0.63;0.63;0.63;0.62;0.63	5.28	-10.6	0.00265	.	2.852700	0.00896	N	0.002284	T	0.16938	0.0407	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.002;0.001	T	0.11131	-1.0600	10	0.15066	T	0.55	4.1247	3.7605	0.08602	0.1929:0.1716:0.4499:0.1856	.	31;31;31;31	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	R	31	ENSP00000406238:H31R;ENSP00000323188:H31R;ENSP00000392029:H31R;ENSP00000373307:H31R;ENSP00000385976:H31R;ENSP00000284995:H31R;ENSP00000407974:H31R;ENSP00000416510:H31R	ENSP00000284995:H31R	H	+	2	0	TSEN2	12506391	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.175000	0.03102	-2.150000	0.00796	-0.899000	0.02877	CAT		0.433	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		30	67	0	0	0	1	0	30	67				
CXorf22	170063	broad.mit.edu	37	X	35993823	35993823	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chrX:35993823G>A	ENST00000297866.5	+	15	2572	c.2506G>A	c.(2506-2508)Gga>Aga	p.G836R		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	836										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TGTACCCAGTGGACACATCCT	0.388																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2506-2508)Gga>Aga		chromosome X open reading frame 22							114.0	99.0	104.0					X																	35993823		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35993823G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2506G>A	X.37:g.35993823G>A	ENSP00000297866:p.Gly836Arg						p.G836R	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			15	2572	+			836					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2506G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463672	0.43736	.	.	ENSG00000165164	ENST00000297866	T	0.14266	2.52	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	M	0.62723	1.935	0.35995	D	0.836953	D	0.89917	1.0	D	0.77557	0.99	T	0.28776	-1.0033	10	0.24483	T	0.36	-16.4194	14.9502	0.71067	0.0:0.0:1.0:0.0	.	836	Q6ZTR5	CX022_HUMAN	R	836	ENSP00000297866:G836R	ENSP00000297866:G836R	G	+	1	0	CXorf22	35903744	1.000000	0.71417	0.081000	0.20488	0.166000	0.22503	5.998000	0.70653	2.117000	0.64856	0.600000	0.82982	GGA		0.388	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		47	68	0	0	0	1	0	47	68				
MMP23B	8510	broad.mit.edu	37	1	1572453	1572453	+	IGR	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:1572453C>T	ENST00000356026.5	+	0	1326				CDK11B_ENST00000340677.5_Missense_Mutation_p.G551D|CDK11B_ENST00000317673.7_Missense_Mutation_p.G562D|CDK11B_ENST00000341832.6_Missense_Mutation_p.G517D|CDK11B_ENST00000407249.3_Missense_Mutation_p.G564D			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	CTTGAGGATGCCGGCGTGGCT	0.647																																						ENST00000407249.3																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						c.(1690-1692)gGc>gAc		cyclin-dependent kinase 11B							70.0	86.0	81.0					1																	1572453		2096	4229	6325	SO:0001628	intergenic_variant	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1572453C>T		CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7171	protein-coding gene	gene with protein product	"""matrix metalloproteinase 22"", ""femalysin"", ""matrix metalloproteinase in the female reproductive tract"""	603321	"""matrix metalloproteinase 23B"""	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1572453C>T						CDK11B_ENST00000340677.5_Missense_Mutation_p.G551D|CDK11B_ENST00000341832.6_Missense_Mutation_p.G517D|CDK11B_ENST00000317673.7_Missense_Mutation_p.G562D	p.G564D			P21127	CD11B_HUMAN			16	1690	-			574			Protein kinase.		A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Missense_Mutation	SNP	ENST00000356026.5	37	c.1691G>A	CCDS30559.1																																																																																				0.647	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158492.2	NM_006983		4	152	0	0	0	1	0	4	152				
BAG4	9530	broad.mit.edu	37	8	38067982	38067982	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr8:38067982C>G	ENST00000287322.4	+	5	1616	c.1345C>G	c.(1345-1347)Ctg>Gtg	p.L449V	BAG4_ENST00000432471.2_Missense_Mutation_p.L413V	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	449	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TCAGGCCATACTGGAAAAATT	0.408																																						ENST00000287322.4																			0				breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11						c.(1345-1347)Ctg>Gtg		BCL2-associated athanogene 4							31.0	35.0	33.0					8																	38067982		2196	4285	6481	SO:0001583	missense	9530				anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity	g.chr8:38067982C>G	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.1345C>G	8.37:g.38067982C>G	ENSP00000287322:p.Leu449Val					BAG4_ENST00000432471.2_Missense_Mutation_p.L413V	p.L449V	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN			5	1616	+	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	449			BAG.		B4E217|O95818	Missense_Mutation	SNP	ENST00000287322.4	37	c.1345C>G	CCDS6104.1	.	.	.	.	.	.	.	.	.	.	C	6.600	0.479001	0.12581	.	.	ENSG00000156735	ENST00000432471;ENST00000287322	D;D	0.91740	-2.9;-2.9	5.27	1.33	0.21861	BAG domain (3);	0.000000	0.64402	D	0.000004	D	0.93465	0.7915	L	0.56280	1.765	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.91134	0.4940	10	0.56958	D	0.05	-9.822	9.4192	0.38541	0.0:0.7115:0.0:0.2885	.	413;449	B4E217;O95429	.;BAG4_HUMAN	V	413;449	ENSP00000393298:L413V;ENSP00000287322:L449V	ENSP00000287322:L449V	L	+	1	2	BAG4	38187139	0.997000	0.39634	0.995000	0.50966	0.044000	0.14063	2.337000	0.43947	0.036000	0.15547	0.552000	0.68991	CTG		0.408	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874		4	96	0	0	0	1	0	4	96				
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	byFrequency	TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr22:18778612C>T	ENST00000412448.1	-	0	793							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)										GCGGCCACGGCAGCCCTGGTG	0.637																																						ENST00000412448.1																			0																																																			0							g.chr22:18778612C>T			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.18778612C>T														0	793	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.637	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		5	56	0	0	0	1	0	5	56				
NCOA3	8202	broad.mit.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000372004.3_Silent_p.Q1249Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3747)caG>caA		nuclear receptor coactivator 3							46.0	53.0	50.0					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759G>A	20.37:g.46279833G>A						NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q	p.Q1249Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3963	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3747G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		4	86	0	0	0	1	0	4	86				
TPTE2	93492	broad.mit.edu	37	13	20041425	20041425	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr13:20041425G>A	ENST00000400230.2	-	7	496	c.452C>T	c.(451-453)cCt>cTt	p.P151L	TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.P151L			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	151					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AACCAGCAGAGGAATCACAAT	0.289																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(451-453)cCt>cTt		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							44.0	49.0	47.0					13																	20041425		2200	4286	6486	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20041425G>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.452C>T	13.37:g.20041425G>A	ENSP00000383089:p.Pro151Leu					TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.P151L	p.P151L			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	7	496	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	151					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.452C>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	6.283	0.420270	0.11928	.	.	ENSG00000132958	ENST00000400230;ENST00000382977;ENST00000343548	D;D	0.98192	-4.78;-4.78	2.4	0.601	0.17529	Ion transport (1);	0.059488	0.64402	U	0.000003	D	0.92113	0.7500	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	D	0.83990	0.0337	9	.	.	.	-7.6157	4.5038	0.11878	0.3382:0.0:0.6618:0.0	.	151	Q6XPS3	TPTE2_HUMAN	L	151	ENSP00000383089:P151L;ENSP00000372437:P151L	.	P	-	2	0	TPTE2	18939425	0.949000	0.32298	0.001000	0.08648	0.007000	0.05969	0.687000	0.25407	0.110000	0.17919	0.467000	0.42956	CCT		0.289	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		3	78	0	0	0	1	0	3	78				
TRPC4	7223	broad.mit.edu	37	13	38237782	38237782	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr13:38237782A>C	ENST00000379705.3	-	6	2316	c.1459T>G	c.(1459-1461)Ttc>Gtc	p.F487V	TRPC4_ENST00000379681.3_Missense_Mutation_p.F487V|TRPC4_ENST00000338947.5_Missense_Mutation_p.F314V|TRPC4_ENST00000379673.2_Missense_Mutation_p.F487V|TRPC4_ENST00000355779.2_Missense_Mutation_p.F487V|TRPC4_ENST00000379679.1_Missense_Mutation_p.F314V|TRPC4_ENST00000358477.2_Missense_Mutation_p.F487V|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.F487V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	487					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGAGAACTGAAGATGTTTGCA	0.448																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(1459-1461)Ttc>Gtc		transient receptor potential cation channel, subfamily C, member 4							72.0	72.0	72.0					13																	38237782		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38237782A>C	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1459T>G	13.37:g.38237782A>C	ENSP00000369027:p.Phe487Val					TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.F487V|TRPC4_ENST00000358477.2_Missense_Mutation_p.F487V|TRPC4_ENST00000379679.1_Missense_Mutation_p.F314V|TRPC4_ENST00000338947.5_Missense_Mutation_p.F314V|TRPC4_ENST00000379681.3_Missense_Mutation_p.F487V|TRPC4_ENST00000379673.2_Missense_Mutation_p.F487V|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.F487V	p.F487V			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	6	2316	-			487					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1459T>G	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.735658	0.89482	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	5.78	5.78	0.91487	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	L	0.58925	1.835	0.80722	D	1	P;P;D;P;P;B	0.61080	0.846;0.846;0.989;0.937;0.84;0.08	B;P;D;P;P;B	0.72982	0.358;0.611;0.979;0.805;0.702;0.283	D	0.99902	1.1166	10	0.87932	D	0	-23.8361	16.3979	0.83621	1.0:0.0:0.0:0.0	.	487;487;487;314;487;487	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	V	487;487;314;314;487;487;487;487	ENSP00000369027:F487V;ENSP00000369003:F487V;ENSP00000342580:F314V;ENSP00000369001:F314V;ENSP00000348025:F487V;ENSP00000351264:F487V;ENSP00000368995:F487V;ENSP00000414316:F487V	ENSP00000342580:F314V	F	-	1	0	TRPC4	37135782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.420000	0.80191	2.333000	0.79357	0.533000	0.62120	TTC		0.448	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		22	53	0	0	0	1	0	22	53				
ZAK	51776	broad.mit.edu	37	2	174081932	174081932	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:174081932G>T	ENST00000375213.3	+	11	1019	c.941G>T	c.(940-942)cGt>cTt	p.R314L	MLTK_ENST00000409176.2_Missense_Mutation_p.R314L|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000431503.2_Missense_Mutation_p.R213L|MLTK_ENST00000539448.1_Missense_Mutation_p.R314L|MLTK_ENST00000338983.3_Missense_Mutation_p.R314L|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		314					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CGAGAAAGACGTTTAAAGATG	0.532																																						ENST00000338983.3																			0											c.(940-942)cGt>cTt									79.0	73.0	75.0					2																	174081932		2203	4300	6503	SO:0001583	missense	0							g.chr2:174081932G>T																												ENST00000375213.3:c.941G>T	2.37:g.174081932G>T	ENSP00000364361:p.Arg314Leu					MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000539448.1_Missense_Mutation_p.R314L|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000431503.2_Missense_Mutation_p.R213L|MLTK_ENST00000375213.3_Missense_Mutation_p.R314L|MLTK_ENST00000409176.2_Missense_Mutation_p.R314L	p.R314L	NM_133646.2	NP_598407.1					11	1136	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	c.941G>T	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362911	0.61403	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000431503;ENST00000375213	T;T;T;D;T	0.82433	-0.87;-0.96;-0.87;-1.61;-0.96	5.59	5.59	0.84812	.	0.047492	0.85682	D	0.000000	T	0.76828	0.4042	L	0.27053	0.805	0.80722	D	1	D;D;P;D	0.57257	0.965;0.979;0.906;0.965	B;P;B;B	0.48166	0.366;0.569;0.412;0.366	T	0.73585	-0.3936	10	0.21540	T	0.41	.	12.8651	0.57936	0.0745:0.0:0.9254:0.0	.	314;314;314;314	A8K710;Q9NYL2-2;Q9NYL2;D4Q8H0	.;.;MLTK_HUMAN;.	L	314;314;314;213;314	ENSP00000439414:R314L;ENSP00000387259:R314L;ENSP00000340257:R314L;ENSP00000399787:R213L;ENSP00000364361:R314L	ENSP00000340257:R314L	R	+	2	0	AC013461.1	173790178	1.000000	0.71417	0.950000	0.38849	0.995000	0.86356	6.814000	0.75236	2.632000	0.89209	0.655000	0.94253	CGT		0.532	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			15	97	1	0	2.31682e-05	1	2.47551e-05	15	97				
DDX56	54606	broad.mit.edu	37	7	44608737	44608737	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr7:44608737G>T	ENST00000258772.5	-	10	1391	c.1285C>A	c.(1285-1287)Cgc>Agc	p.R429S	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R389S	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	429					ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.R429C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						ACCCTGCAGCGATAGCGGAAG	0.627																																						ENST00000258772.5																			1	Substitution - Missense(1)	p.R429C(1)	large_intestine(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(1285-1287)Cgc>Agc		DEAD (Asp-Glu-Ala-Asp) box helicase 56							63.0	63.0	63.0					7																	44608737		2203	4300	6503	SO:0001583	missense	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44608737G>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.1285C>A	7.37:g.44608737G>T	ENSP00000258772:p.Arg429Ser					DDX56_ENST00000431640.1_Missense_Mutation_p.R389S|DDX56_ENST00000485367.1_5'UTR	p.R429S	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN			10	1391	-			429					A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	c.1285C>A	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	19.64	3.864869	0.71949	.	.	ENSG00000136271	ENST00000258772;ENST00000431640;ENST00000448192	T;T	0.06528	3.43;3.29	4.86	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.29423	0.0733	M	0.93062	3.375	0.54753	D	0.999989	P;D	0.69078	0.752;0.997	P;D	0.69142	0.553;0.962	T	0.17018	-1.0383	10	0.66056	D	0.02	-19.5189	10.6773	0.45794	0.0931:0.0:0.9069:0.0	.	389;429	C9JV95;Q9NY93	.;DDX56_HUMAN	S	429;389;34	ENSP00000258772:R429S;ENSP00000393488:R389S	ENSP00000258772:R429S	R	-	1	0	DDX56	44575262	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.252000	0.43196	1.268000	0.44264	0.655000	0.94253	CGC		0.627	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		20	74	1	0	1.96292e-10	1	2.28519e-10	20	74				
TNPO3	23534	broad.mit.edu	37	7	128630096	128630096	+	Missense_Mutation	SNP	C	C	T	rs150330408		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr7:128630096C>T	ENST00000265388.5	-	11	1560	c.1417G>A	c.(1417-1419)Gta>Ata	p.V473I	TNPO3_ENST00000471234.1_Missense_Mutation_p.V473I|TNPO3_ENST00000471166.1_Missense_Mutation_p.V507I|TNPO3_ENST00000393245.1_Missense_Mutation_p.V507I|TNPO3_ENST00000482320.1_Missense_Mutation_p.V407I			Q9Y5L0	TNPO3_HUMAN	transportin 3	473					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GCCGTATGTACGGTCTCCGGG	0.478																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(1519-1521)Gta>Ata		transportin 3		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	176.0	151.0	159.0		1417,1417	5.7	0.3	7	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TNPO3	NM_001191028.2,NM_012470.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	473/860,473/924	128630096	1,13005	2203	4300	6503	SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128630096C>T	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.1417G>A	7.37:g.128630096C>T	ENSP00000265388:p.Val473Ile					TNPO3_ENST00000471234.1_Missense_Mutation_p.V473I|TNPO3_ENST00000265388.5_Missense_Mutation_p.V473I|TNPO3_ENST00000471166.1_Missense_Mutation_p.V507I|TNPO3_ENST00000482320.1_Missense_Mutation_p.V407I	p.V507I	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			11	1892	-			473					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	c.1519G>A	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925090	0.73213	0.0	1.16E-4	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.35307	0.0927	L	0.43152	1.355	0.54753	D	0.999985	P;D;P	0.69078	0.622;0.997;0.792	B;P;B	0.44946	0.109;0.465;0.216	T	0.04229	-1.0967	10	0.18710	T	0.47	.	17.3149	0.87220	0.0:1.0:0.0:0.0	.	473;507;473	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	I	507;473;407;473;507	ENSP00000376936:V507I;ENSP00000265388:V473I;ENSP00000420089:V407I;ENSP00000418646:V473I;ENSP00000418267:V507I	ENSP00000265388:V473I	V	-	1	0	TNPO3	128417332	1.000000	0.71417	0.302000	0.25058	0.951000	0.60555	7.439000	0.80444	2.683000	0.91414	0.655000	0.94253	GTA		0.478	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		88	107	0	0	0	1	0	88	107				
FBXW7	55294	broad.mit.edu	37	4	153250873	153250873	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr4:153250873C>T	ENST00000281708.4	-	8	2416	c.1187G>A	c.(1186-1188)aGt>aAt	p.S396N	FBXW7_ENST00000263981.5_Missense_Mutation_p.S316N|FBXW7_ENST00000603841.1_Missense_Mutation_p.S396N|FBXW7_ENST00000296555.5_Missense_Mutation_p.S278N|FBXW7_ENST00000393956.3_Missense_Mutation_p.S220N|FBXW7_ENST00000603548.1_Missense_Mutation_p.S396N	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	396					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATCAGAACCACTAACTATTCG	0.348			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1186-1188)aGt>aAt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							118.0	107.0	111.0					4																	153250873		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153250873C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1187G>A	4.37:g.153250873C>T	ENSP00000281708:p.Ser396Asn					FBXW7_ENST00000263981.5_Missense_Mutation_p.S316N|FBXW7_ENST00000603548.1_Missense_Mutation_p.S396N|FBXW7_ENST00000296555.5_Missense_Mutation_p.S278N|FBXW7_ENST00000603841.1_Missense_Mutation_p.S396N|FBXW7_ENST00000393956.3_Missense_Mutation_p.S220N	p.S396N	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			8	2416	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	396					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1187G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915859	0.92178	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.99	5.99	0.97316	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89529	0.6741	H	0.95260	3.645	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.71414	0.963;0.973;0.954;0.954	D	0.91405	0.5146	10	0.72032	D	0.01	-18.9533	20.5373	0.99239	0.0:1.0:0.0:0.0	.	220;396;278;316	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	N	396;278;316;220	ENSP00000281708:S396N;ENSP00000296555:S278N;ENSP00000263981:S316N;ENSP00000377528:S220N	ENSP00000263981:S316N	S	-	2	0	FBXW7	153470323	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.815000	0.86186	2.857000	0.98124	0.650000	0.86243	AGT		0.348	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			44	7	0	0	0	1	0	44	7				
ACOT12	134526	broad.mit.edu	37	5	80626633	80626633	+	Splice_Site	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr5:80626633G>T	ENST00000307624.3	-	14	1546	c.1518C>A	c.(1516-1518)atC>atA	p.I506I	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	506	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TCAAACTTACGATGCATGAAT	0.398																																						ENST00000307624.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.e14+1		acyl-CoA thioesterase 12							81.0	76.0	77.0					5																	80626633		2203	4300	6503	SO:0001630	splice_region_variant	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80626633G>T	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1518+1C>A	5.37:g.80626633G>T						ACOT12_ENST00000508234.1_5'UTR	p.I506_splice	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	14	1546	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	506			START.		B3KVK9|Q5FWE9	Splice_Site	SNP	ENST00000307624.3	37	c.1518_splice	CCDS4055.1																																																																																				0.398	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	Silent	16	25	1	0	2.32078e-09	1	2.66208e-09	16	25				
PLXNB2	23654	broad.mit.edu	37	22	50716562	50716562	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr22:50716562C>T	ENST00000449103.1	-	31	5011	c.4871G>A	c.(4870-4872)cGg>cAg	p.R1624Q	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R1624Q			O15031	PLXB2_HUMAN	plexin B2	1624					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGAGAGCAGCCGCGTCAGGTA	0.687																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(4870-4872)cGg>cAg		plexin B2							31.0	33.0	32.0					22																	50716562		2151	4249	6400	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50716562C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4871G>A	22.37:g.50716562C>T	ENSP00000409171:p.Arg1624Gln					PLXNB2_ENST00000359337.4_Missense_Mutation_p.R1624Q	p.R1624Q			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	31	5011	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1624					A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.4871G>A	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392166	0.83011	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000411680	T;T;T	0.18016	2.24;2.24;2.24	4.7	4.7	0.59300	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000004	T	0.51092	0.1654	M	0.90650	3.135	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.63247	-0.6680	10	0.66056	D	0.02	.	17.9897	0.89165	0.0:1.0:0.0:0.0	.	1624	O15031	PLXB2_HUMAN	Q	1624;1624;176	ENSP00000409171:R1624Q;ENSP00000352288:R1624Q;ENSP00000400679:R176Q	ENSP00000352288:R1624Q	R	-	2	0	PLXNB2	49058689	0.910000	0.30920	0.763000	0.31416	0.286000	0.27126	7.570000	0.82390	2.302000	0.77476	0.561000	0.74099	CGG		0.687	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		28	9	0	0	0	1	0	28	9				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977377	29977377	+	RNA	SNP	C	C	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr6:29977377C>G	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TTTGTGACTTCAAGAACCCTG	0.458																																						ENST00000376797.3																			0																																																			0							g.chr6:29977377C>G	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977377C>G						ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.458	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	43	0	0	0	1	0	3	43				
PGM5P2	595135	broad.mit.edu	37	9	69117826	69117826	+	RNA	SNP	A	A	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr9:69117826A>G	ENST00000591037.1	-	0	768					NR_002836.2				phosphoglucomutase 5 pseudogene 2																		GGAGGTTAAGATAGATATCCA	0.413																																						ENST00000591037.1																			0																																																			0							g.chr9:69117826A>G	BC007887, BC025351		9q12	2014-01-23			ENSG00000227558	ENSG00000277778			18965	pseudogene	pseudogene						12421752, 15233989	Standard	NR_002836		Approved		uc004aff.4		OTTHUMG00000013322		9.37:g.69117826A>G								NR_002836.2						0	768	-									RNA	SNP	ENST00000591037.1	37																																																																																						0.413	PGM5P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000460890.1	NR_002836		91	20	0	0	0	1	0	91	20				
DAAM1	23002	broad.mit.edu	37	14	59793305	59793305	+	Nonsense_Mutation	SNP	A	A	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr14:59793305A>T	ENST00000395125.1	+	10	1275	c.1252A>T	c.(1252-1254)Aaa>Taa	p.K418*	DAAM1_ENST00000360909.3_Nonsense_Mutation_p.K418*|DAAM1_ENST00000351081.1_Nonsense_Mutation_p.K418*	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	418	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCAGAATGACAAAGGACAGGA	0.378																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(1252-1254)Aaa>Taa		dishevelled associated activator of morphogenesis 1							81.0	83.0	82.0					14																	59793305		2203	4300	6503	SO:0001587	stop_gained	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59793305A>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1252A>T	14.37:g.59793305A>T	ENSP00000378557:p.Lys418*					DAAM1_ENST00000360909.3_Nonsense_Mutation_p.K418*|DAAM1_ENST00000351081.1_Nonsense_Mutation_p.K418*	p.K418*	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	10	1275	+			418			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Nonsense_Mutation	SNP	ENST00000395125.1	37	c.1252A>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	38	7.223021	0.98146	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3351	0.83056	1.0:0.0:0.0:0.0	.	.	.	.	X	418	.	ENSP00000247170:K418X	K	+	1	0	DAAM1	58863058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.256000	0.78350	2.262000	0.75019	0.528000	0.53228	AAA		0.378	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		46	45	0	0	0	1	0	46	45				
SMYD1	150572	broad.mit.edu	37	2	88390583	88390583	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:88390583G>A	ENST00000419482.2	+	4	666	c.581G>A	c.(580-582)gGc>gAc	p.G194D	SMYD1_ENST00000444564.2_Missense_Mutation_p.G194D|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	194	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAGGCCGTGGGCGTAGGCATC	0.498																																						ENST00000419482.2																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(580-582)gGc>gAc		SET and MYND domain containing 1							184.0	177.0	179.0					2																	88390583		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88390583G>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.581G>A	2.37:g.88390583G>A	ENSP00000393453:p.Gly194Asp					SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.G194D	p.G194D	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN			4	666	+			194			SET.		A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.581G>A	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207303	0.95033	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	D;D	0.81908	-1.55;-1.55	5.31	5.31	0.75309	SET domain (2);	0.000000	0.85682	D	0.000000	D	0.89532	0.6742	L	0.56124	1.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90234	0.4281	10	0.87932	D	0	-13.5057	18.3263	0.90255	0.0:0.0:1.0:0.0	.	194	Q8NB12	SMYD1_HUMAN	D	194;194;28	ENSP00000393453:G194D;ENSP00000407888:G194D	ENSP00000295833:G28D	G	+	2	0	SMYD1	88171698	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	9.345000	0.97053	2.635000	0.89317	0.561000	0.74099	GGC		0.498	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		65	176	0	0	0	1	0	65	176				
LRP1B	53353	broad.mit.edu	37	2	141625828	141625828	+	Missense_Mutation	SNP	G	G	A	rs200955532		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:141625828G>A	ENST00000389484.3	-	26	5145	c.4174C>T	c.(4174-4176)Ctt>Ttt	p.L1392F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1392					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCAGAAAAGAATTCTaaaa	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4174-4176)Ctt>Ttt		low density lipoprotein receptor-related protein 1B							38.0	38.0	38.0					2																	141625828		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141625828G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4174C>T	2.37:g.141625828G>A	ENSP00000374135:p.Leu1392Phe	TSP Lung(27;0.18)					p.L1392F	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	26	5145	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1392					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4174C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360608	0.95877	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.97870	-4.58;-4.58	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000003	D	0.98975	0.9651	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.99402	1.0928	10	0.66056	D	0.02	.	20.1338	0.98010	0.0:0.0:1.0:0.0	.	575;1392	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	F	1392;1330;537	ENSP00000374135:L1392F;ENSP00000413239:L537F	ENSP00000374135:L1392F	L	-	1	0	LRP1B	141342298	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.886000	0.87288	2.770000	0.95276	0.655000	0.94253	CTT		0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		14	44	0	0	0	1	0	14	44				
ZMIZ1	57178	broad.mit.edu	37	10	81050918	81050918	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr10:81050918G>A	ENST00000334512.5	+	10	1315	c.743G>A	c.(742-744)gGg>gAg	p.G248E	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	248					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCGGCAGCGGGGGCTTTGGG	0.652																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(742-744)gGg>gAg		zinc finger, MIZ-type containing 1							16.0	18.0	17.0					10																	81050918		2202	4296	6498	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81050918G>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.743G>A	10.37:g.81050918G>A	ENSP00000334474:p.Gly248Glu					ZMIZ1_ENST00000478357.1_3'UTR	p.G248E	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		10	1315	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		248					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.743G>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946082	0.73672	.	.	ENSG00000108175	ENST00000334512;ENST00000360331	T	0.39056	1.1	5.67	5.67	0.87782	.	0.000000	0.42172	D	0.000752	T	0.59824	0.2222	L	0.44542	1.39	0.80722	D	1	D;P	0.89917	1.0;0.949	D;P	0.97110	1.0;0.778	T	0.57429	-0.7813	10	0.51188	T	0.08	-11.4849	19.7667	0.96346	0.0:0.0:1.0:0.0	.	158;248	Q9H7J0;Q9ULJ6	.;ZMIZ1_HUMAN	E	248;178	ENSP00000334474:G248E	ENSP00000334474:G248E	G	+	2	0	ZMIZ1	80720924	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	9.476000	0.97823	2.681000	0.91329	0.655000	0.94253	GGG		0.652	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		7	38	0	0	0	1	0	7	38				
NLRC3	197358	broad.mit.edu	37	16	3613764	3613764	+	RNA	SNP	C	C	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr16:3613764C>A	ENST00000301749.7	-	0	1579				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGCGGCCACCATGGGCCACC	0.587																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							45.0	46.0	46.0					16																	3613764		2039	4190	6229			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613764C>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613764C>A						NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	1579	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	C	8.638	0.895272	0.17613	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	4.82	0.341	0.15991	.	0.220081	0.45867	D	0.000328	T	0.79540	0.4463	.	.	.	0.09310	N	1	P	0.47677	0.899	P	0.48227	0.571	T	0.70894	-0.4748	9	0.59425	D	0.04	.	6.7147	0.23296	0.0:0.448:0.0:0.552	.	439	C9JLH9	.	C	392;392;392;439;374	ENSP00000301749:G392C;ENSP00000352039:G392C;ENSP00000414415:G439C;ENSP00000323897:G374C	ENSP00000301749:G392C	G	-	1	0	NLRC3	3553765	0.001000	0.12720	0.002000	0.10522	0.226000	0.24999	0.160000	0.16462	0.220000	0.20860	-0.137000	0.14449	GGT		0.587	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		14	21	1	0	1.49906e-05	1	1.62398e-05	14	21				
MUC17	140453	broad.mit.edu	37	7	100684160	100684160	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr7:100684160C>T	ENST00000306151.4	+	3	9527	c.9463C>T	c.(9463-9465)Cca>Tca	p.P3155S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3155	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.478																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9463-9465)Cca>Tca		mucin 17, cell surface associated							296.0	301.0	299.0					7																	100684160		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684160C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9463C>T	7.37:g.100684160C>T	ENSP00000302716:p.Pro3155Ser						p.P3155S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9527	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3155			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9463C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	2.356	-0.347730	0.05208	.	.	ENSG00000169876	ENST00000306151	T	0.06608	3.28	0.905	-1.81	0.07882	.	.	.	.	.	T	0.05227	0.0139	N	0.11560	0.145	0.09310	N	1	D	0.57571	0.98	D	0.70227	0.968	T	0.11275	-1.0594	9	0.05721	T	0.95	.	0.2536	0.00209	0.2082:0.1993:0.2083:0.3842	.	3155	Q685J3	MUC17_HUMAN	S	3155	ENSP00000302716:P3155S	ENSP00000302716:P3155S	P	+	1	0	MUC17	100470880	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-4.691000	0.00198	-1.762000	0.01308	0.121000	0.15741	CCA		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	758	0	0	0	1	0	6	758				
ZNF831	128611	broad.mit.edu	37	20	57766698	57766698	+	Silent	SNP	C	C	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr20:57766698C>A	ENST00000371030.2	+	1	624	c.624C>A	c.(622-624)ggC>ggA	p.G208G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	208							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGTCCGAGGGCGCCGGGGGCG	0.677																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(622-624)ggC>ggA		zinc finger protein 831							30.0	37.0	35.0					20																	57766698		1919	4119	6038	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766698C>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.624C>A	20.37:g.57766698C>A							p.G208G	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	624	+	all_lung(29;0.0085)		208					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.624C>A	CCDS42894.1																																																																																				0.677	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		42	131	1	0	7.05377e-20	1	8.59678e-20	42	131				
SULF1	23213	broad.mit.edu	37	8	70541903	70541903	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr8:70541903C>G	ENST00000260128.4	+	19	2990	c.2273C>G	c.(2272-2274)cCg>cGg	p.P758R	SULF1_ENST00000402687.4_Missense_Mutation_p.P758R|SULF1_ENST00000419716.3_Missense_Mutation_p.P758R|SULF1_ENST00000458141.2_Missense_Mutation_p.P758R|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	758					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGACAGCCCCGTTCTGGAAC	0.522																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2272-2274)cCg>cGg		sulfatase 1							143.0	133.0	137.0					8																	70541903		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70541903C>G	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2273C>G	8.37:g.70541903C>G	ENSP00000260128:p.Pro758Arg					SULF1_ENST00000458141.2_Missense_Mutation_p.P758R|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.P758R|SULF1_ENST00000419716.3_Missense_Mutation_p.P758R	p.P758R	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		19	2990	+	Breast(64;0.0654)		758					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.2273C>G	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566720	0.86439	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	4.75	4.75	0.60458	Alkaline-phosphatase-like, core domain (1);	0.055118	0.85682	D	0.000000	T	0.43678	0.1258	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.53486	-0.8432	10	0.87932	D	0	.	17.9404	0.89025	0.0:1.0:0.0:0.0	.	758	Q8IWU6	SULF1_HUMAN	R	758	ENSP00000403040:P758R;ENSP00000260128:P758R;ENSP00000385704:P758R;ENSP00000390315:P758R	ENSP00000260128:P758R	P	+	2	0	SULF1	70704457	1.000000	0.71417	0.949000	0.38748	0.929000	0.56500	7.622000	0.83099	2.440000	0.82611	0.655000	0.94253	CCG		0.522	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		66	1417	0	0	0	1	0	66	1417				
ATG4A	115201	broad.mit.edu	37	X	107374496	107374496	+	Missense_Mutation	SNP	C	C	T	rs370004662		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chrX:107374496C>T	ENST00000372232.3	+	4	359	c.200C>T	c.(199-201)aCg>aTg	p.T67M	ATG4A_ENST00000345734.3_Missense_Mutation_p.T67M|ATG4A_ENST00000372254.3_Missense_Mutation_p.T43M|ATG4A_ENST00000545696.1_5'UTR	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	67					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						ACAGGTGGAACGGGCCCTTCA	0.473																																						ENST00000372232.3																			0				endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						c.(199-201)aCg>aTg		autophagy related 4A, cysteine peptidase		C	MET/THR,MET/THR	0,3835		0,0,1632,571	161.0	145.0	150.0		200,200	5.9	1.0	X		150	1,6727		0,1,2427,1872	no	missense,missense	ATG4A	NM_052936.3,NM_178270.2	81,81	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging	67/399,67/337	107374496	1,10562	2203	4300	6503	SO:0001583	missense	115201				autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	g.chrX:107374496C>T	AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"""AUT-like 2, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog A (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog A (S. cerevisiae)"""	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.200C>T	X.37:g.107374496C>T	ENSP00000361306:p.Thr67Met					ATG4A_ENST00000372254.3_Missense_Mutation_p.T43M|ATG4A_ENST00000545696.1_5'UTR|ATG4A_ENST00000345734.3_Missense_Mutation_p.T67M	p.T67M	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN			4	359	+			67					A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Missense_Mutation	SNP	ENST00000372232.3	37	c.200C>T	CCDS14538.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.348436|4.348436	0.82132|0.82132	0.0|0.0	1.49E-4|1.49E-4	ENSG00000101844|ENSG00000101844	ENST00000394892|ENST00000372232;ENST00000345734;ENST00000372254	.|T;T;T	.|0.49720	.|0.77;0.84;0.8	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78207|0.78207	0.4247|0.4247	M|M	0.93939|0.93939	3.475|3.475	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.77557	.|0.988;0.99	D|D	0.83921|0.83921	0.0301|0.0301	5|10	.|0.87932	.|D	.|0	-8.9489|-8.9489	19.2026|19.2026	0.93717|0.93717	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|67;67	.|Q8WYN0-2;Q8WYN0	.|.;ATG4A_HUMAN	W|M	40|67;67;43	.|ENSP00000361306:T67M;ENSP00000298131:T67M;ENSP00000361328:T43M	.|ENSP00000341833:T67M	R|T	+|+	1|2	2|0	ATG4A|ATG4A	107261152|107261152	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.685000|0.685000	0.39939|0.39939	7.274000|7.274000	0.78538|0.78538	2.485000|2.485000	0.83878|0.83878	0.600000|0.600000	0.82982|0.82982	CGG|ACG		0.473	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057860.1	NM_052936		38	87	0	0	0	1	0	38	87				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	59	0	0	0	1	0	4	59				
CLCN2	1181	broad.mit.edu	37	3	184073266	184073266	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:184073266G>A	ENST00000265593.4	-	12	1393	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	CLCN2_ENST00000475279.1_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.R408C|CLCN2_ENST00000434054.2_Missense_Mutation_p.R364C|CLCN2_ENST00000423355.2_Missense_Mutation_p.R49C|CLCN2_ENST00000457512.1_Missense_Mutation_p.R408C|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	408					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGGCCCTGGCGGACCCACGTC	0.582																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1222-1224)Cgc>Tgc		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						126.0	114.0	118.0					3																	184073266		2203	4300	6503	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184073266G>A	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1222C>T	3.37:g.184073266G>A	ENSP00000265593:p.Arg408Cys					EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Missense_Mutation_p.R408C|CLCN2_ENST00000423355.2_Missense_Mutation_p.R49C|CLCN2_ENST00000475279.1_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.R408C|CLCN2_ENST00000434054.2_Missense_Mutation_p.R364C	p.R408C	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		12	1393	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		408					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.1222C>T	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	g	21.7	4.190250	0.78789	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000423355;ENST00000434054;ENST00000457512	D;D;T;D;D	0.85171	-1.9;-1.85;-0.39;-1.95;-1.94	5.6	5.6	0.85130	Chloride channel, core (2);	0.322809	0.33732	N	0.004606	D	0.88804	0.6536	L	0.54323	1.7	0.45490	D	0.998458	D;D;D;D;D	0.69078	0.996;0.997;0.994;0.992;0.997	P;P;P;P;P	0.59761	0.773;0.863;0.713;0.59;0.79	D	0.89519	0.3777	10	0.87932	D	0	-8.8308	14.1012	0.65056	0.0:0.0:0.8109:0.1891	.	408;364;408;408;408	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	C	408;408;49;364;408	ENSP00000265593:R408C;ENSP00000345056:R408C;ENSP00000412226:R49C;ENSP00000400425:R364C;ENSP00000391928:R408C	ENSP00000265593:R408C	R	-	1	0	CLCN2	185555960	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.978000	0.56881	2.653000	0.90120	0.563000	0.77884	CGC		0.582	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			59	83	0	0	0	1	0	59	83				
SCUBE2	57758	broad.mit.edu	37	11	9082062	9082062	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr11:9082062G>A	ENST00000309263.3	-	8	932	c.860C>T	c.(859-861)gCt>gTt	p.A287V	SCUBE2_ENST00000450649.2_Missense_Mutation_p.A287V|SCUBE2_ENST00000520467.1_Missense_Mutation_p.A287V|RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000457346.2_Missense_Mutation_p.A287V			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	287	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATTGTTGACAGCACACGTTTC	0.498																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(859-861)gCt>gTt		signal peptide, CUB domain, EGF-like 2							150.0	139.0	143.0					11																	9082062		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9082062G>A	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.860C>T	11.37:g.9082062G>A	ENSP00000310658:p.Ala287Val					SCUBE2_ENST00000450649.2_Missense_Mutation_p.A287V|RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.A287V|SCUBE2_ENST00000309263.3_Missense_Mutation_p.A287V	p.A287V			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	8	934	-			287			EGF-like 6 (Potential).		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.860C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.228865	0.95173	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06	5.94	5.94	0.96194	Epidermal growth factor-like (1);	0.045125	0.85682	D	0.000000	D	0.97955	0.9327	M	0.73430	2.235	0.80722	D	1	D;D;D	0.69078	0.964;0.992;0.997	P;D;P	0.68039	0.841;0.955;0.899	D	0.97927	1.0318	10	0.59425	D	0.04	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	287;287;287	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	V	287	ENSP00000390481:A287V;ENSP00000310658:A287V;ENSP00000415187:A287V;ENSP00000429969:A287V	ENSP00000310658:A287V	A	-	2	0	SCUBE2	9038638	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	GCT		0.498	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		4	134	0	0	0	1	0	4	134				
MAGEA6	4105	broad.mit.edu	37	X	151870055	151870055	+	Missense_Mutation	SNP	T	T	C	rs140963484	byFrequency	TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chrX:151870055T>C	ENST00000329342.5	+	3	970	c.745T>C	c.(745-747)Tat>Cat	p.Y249H		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	249	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCACCCAATATTTCGTGCA	0.547																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(745-747)Tat>Cat		melanoma antigen family A, 6		C	HIS/TYR,HIS/TYR	0,3835		0,0,0,1632,571	148.0	144.0	146.0		745,745	-1.2	0.0	X	dbSNP_134	146	12,6715		0,10,2,2418,1869	no	missense,missense	MAGEA6	NM_005363.2,NM_175868.1	83,83	0,10,2,4050,2440	CC,CT,C,TT,T		0.1784,0.0,0.1136	benign,benign	249/315,249/315	151870055	12,10550	2203	4299	6502	SO:0001583	missense	4105						protein binding	g.chrX:151870055T>C		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.745T>C	X.37:g.151870055T>C	ENSP00000329199:p.Tyr249His						p.Y249H	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	970	+	Acute lymphoblastic leukemia(192;6.56e-05)		249			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.745T>C	CCDS14708.1	2	0.0012055455093429777	0	0.0	0	0.0	0	0.0	0	0.0	N	0.249	-1.007679	0.02112	0.0	0.001784	ENSG00000197172	ENST00000329342	T	0.04654	3.58	0.605	-1.21	0.09524	.	.	.	.	.	T	0.01835	0.0058	N	0.02916	-0.46	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45848	-0.9233	7	0.66056	D	0.02	.	.	.	.	.	249	P43360	MAGA6_HUMAN	H	249	ENSP00000329199:Y249H	ENSP00000329199:Y249H	Y	+	1	0	MAGEA6	151620711	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.165000	0.09968	-2.037000	0.00920	-3.290000	0.00046	TAT		0.547	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		83	147	0	0	0	1	0	83	147				
ZBTB7B	51043	broad.mit.edu	37	1	154987765	154987765	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:154987765delA	ENST00000368426.3	+	3	766	c.629delA	c.(628-630)caafs	p.Q210fs	ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000292176.2_Frame_Shift_Del_p.Q210fs|ZBTB7B_ENST00000417934.2_Frame_Shift_Del_p.Q244fs|ZBTB7B_ENST00000535420.1_Frame_Shift_Del_p.Q210fs	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	210					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTTTCCTGCAAACCAAGGGG	0.672																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(628-630)cafs		zinc finger and BTB domain containing 7B							35.0	40.0	39.0					1																	154987765		2201	4297	6498	SO:0001589	frameshift_variant	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987765delA	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.629delA	1.37:g.154987765delA	ENSP00000357411:p.Gln210fs					ZBTB7B_ENST00000292176.2_Frame_Shift_Del_p.Q210fs|ZBTB7B_ENST00000535420.1_Frame_Shift_Del_p.Q210fs|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000417934.2_Frame_Shift_Del_p.Q244fs	p.Q210fs	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	766	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		210					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Frame_Shift_Del	DEL	ENST00000368426.3	37	c.629delA	CCDS1081.1																																																																																				0.672	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		114	228						114	228	---	---	---	---
LAMC1	3915	broad.mit.edu	37	1	182993005	182993018	+	Frame_Shift_Del	DEL	CCCGAGTTCGTCAA	CCCGAGTTCGTCAA	-	rs368501531		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:182993005_182993018delCCCGAGTTCGTCAA	ENST00000258341.4	+	1	411_424	c.154_167delCCCGAGTTCGTCAA	c.(154-168)cccgagttcgtcaacfs	p.PEFVN52fs		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	52	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GCGCTGCATGCCCGAGTTCGTCAACGCCGCCTTC	0.71																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(154-168)cfs		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:182993005_182993018delCCCGAGTTCGTCAA	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.154_167delCCCGAGTTCGTCAA	1.37:g.182993005_182993018delCCCGAGTTCGTCAA	ENSP00000258341:p.Pro52fs						p.PEFVN52fs	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			1	411_424	+			52			Laminin N-terminal.		Q5VYE7	Frame_Shift_Del	DEL	ENST00000258341.4	37	c.154_167delCCCGAGTTCGTCAA	CCDS1351.1																																																																																				0.710	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		8	55						8	55	---	---	---	---
KLHL41	10324	broad.mit.edu	37	2	170366496	170366496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:170366496delA	ENST00000284669.1	+	1	285	c.208delA	c.(208-210)aaafs	p.K72fs	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TGATGAGGCGAAAAAAAAGGA	0.388																																						ENST00000284669.1																			0											c.(208-210)aafs		kelch-like family member 41							145.0	144.0	145.0					2																	170366496		2203	4300	6503	SO:0001589	frameshift_variant	10324							g.chr2:170366496delA	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.208delA	2.37:g.170366496delA	ENSP00000284669:p.Lys72fs					BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	p.K72fs	NM_006063.2	NP_006054.2					1	285	+								Q53R42	Frame_Shift_Del	DEL	ENST00000284669.1	37	c.208delA	CCDS2234.1																																																																																				0.388	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		7	270						7	270	---	---	---	---
AC018890.6	0	broad.mit.edu	37	2	175584494	175584494	+	RNA	DEL	T	T	-			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:175584494delT	ENST00000442996.1	+	0	217																											TTGCTTCTGATTTTTTTTTTT	0.532											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175584494delT																													2.37:g.175584494delT			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.532	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			2	4						2	4	---	---	---	---
RP11-93K22.13	0	broad.mit.edu	37	3	129814807	129814807	+	lincRNA	DEL	G	G	-	rs71158106	byFrequency	TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:129814807delG	ENST00000514010.1	-	0	0				AC083906.2_ENST00000578837.1_RNA|ALG1L2_ENST00000507643.1_RNA																							CACTCCCCTCGGGGGGTGTTG	0.607														857	0.171126	0.2088	0.1628	5008	,	,		17216	0.003		0.2932	False		,,,				2504	0.1738					ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129814807delG																													3.37:g.129814807delG										C9J202	AG1L2_HUMAN			0	456	+									RNA	DEL	ENST00000514010.1	37																																																																																						0.607	RP11-93K22.13-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358040.1			2	4						2	4	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8107-8109)ggfs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							248.0	251.0	250.0					8																	48746799		1981	4176	6157	SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48746799delT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8107delA	8.37:g.48746799delT	ENSP00000313420:p.Arg2703fs					PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR	p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			60	8163	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2704			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.8107delA																																																																																					0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		13	3275						13	3275	---	---	---	---
TGS1	96764	broad.mit.edu	37	8	56711599	56711599	+	Frame_Shift_Del	DEL	A	A	-	rs375596621		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr8:56711599delA	ENST00000260129.5	+	8	2146	c.1669delA	c.(1669-1671)aaafs	p.K558fs		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	558					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CATGTCTGTTAAAAAAGGTGA	0.403																																					Esophageal Squamous(34;275 823 4842 34837 48447)	ENST00000260129.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1669-1671)aafs		trimethylguanosine synthase 1							136.0	119.0	125.0					8																	56711599		2203	4300	6503	SO:0001589	frameshift_variant	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56711599delA	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.1669delA	8.37:g.56711599delA	ENSP00000260129:p.Lys558fs						p.K558fs	NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		8	2146	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	558					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Frame_Shift_Del	DEL	ENST00000260129.5	37	c.1669delA	CCDS34894.1																																																																																				0.403	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		7	834						7	834	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)aagdel	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(766-768)del		thymocyte selection-associated high mobility group box																																				SO:0001651	inframe_deletion	9760					nucleus	DNA binding	g.chr8:59750796_59750798delCTT		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.766_768delAAG	8.37:g.59750805_59750807delCTT	ENSP00000354842:p.Lys256del						p.K256del	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			5	986_988	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	256					Q96AV5	In_Frame_Del	DEL	ENST00000361421.1	37	c.766_768delAAG	CCDS34897.1																																																																																				0.453	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		8	1274						8	1274	---	---	---	---
NTF3	4908	broad.mit.edu	37	12	5603608	5603609	+	Frame_Shift_Ins	INS	-	-	C	rs370431415		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr12:5603608_5603609insC	ENST00000331010.6	+	1	311_312	c.228_229insC	c.(229-231)cccfs	p.P77fs	NTF3_ENST00000423158.3_Frame_Shift_Ins_p.P90fs|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	77					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AGCGGGGAGGGCCCGCCAAGTC	0.579																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(265-270)ggccgcfs		neurotrophin 3																																				SO:0001589	frameshift_variant	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603608_5603609insC		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.231dupC	12.37:g.5603611_5603611dupC	ENSP00000328738:p.Pro77fs					NTF3_ENST00000331010.6_Frame_Shift_Ins_p.R77fs|NTF3_ENST00000535299.1_Intron	p.R90fs	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN			2	479_480	+			77					B7Z1T5|Q6FH50	Frame_Shift_Ins	INS	ENST00000331010.6	37	c.267_268insC	CCDS8538.1																																																																																				0.579	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			8	125						8	125	---	---	---	---
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-	rs376357384	byFrequency	TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2				ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1																		tttttaaactaaaaaaaaaaa	0.373													|||unknown(NO_COVERAGE)	2110	0.421326	0.4274	0.4049	5008	,	,		13748	0.4395		0.4095	False		,,,				2504	0.4182					ENST00000339094.1																			0																																																			0							g.chr15:85077360delA			15q25.2	2013-11-05	2009-12-17	2009-12-17	ENSG00000189136	ENSG00000189136			37439	pseudogene	pseudogene			"""ubiquitin-conjugating enzyme E2Q family pseudogene 1"""	UBE2QP1			Standard	NR_003661		Approved	FLJ43276	uc002bkn.1		OTTHUMG00000148662		15.37:g.85077360delA								NR_003661.2						0	1678	-									RNA	DEL	ENST00000339094.1	37																																																																																						0.373	UBE2Q2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000308970.2	NR_003661		6	5						6	5	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579718	7579718	+	Frame_Shift_Del	DEL	A	A	-	rs397516438		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr17:7579718delA	ENST00000269305.4	-	3	267	c.78delT	c.(76-78)cttfs	p.L26fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.L26fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000574684.1_5'Flank	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	26	Interaction with HRMT1L2.|Transcription activation (acidic).				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.0?(8)|p.L26fs*18(1)|p.P13fs*18(1)|p.L26fs*11(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)	TGTTTTCAGGAAGTCTGAAAG	0.622		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"""		11	Whole gene deletion(8)|Deletion - Frameshift(2)|Complex - frameshift(1)	p.0?(8)|p.L26fs*18(1)|p.P13fs*18(1)|p.L26fs*11(1)	bone(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(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						c.(76-78)ctfs	Other conserved DNA damage response genes	tumor protein p53							42.0	42.0	42.0					17																	7579718		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:7579718delA	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.78delT	17.37:g.7579718delA	ENSP00000269305:p.Leu26fs	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_ENST00000359597.4_Frame_Shift_Del_p.L26fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.L26fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L26fs	p.L26fs	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)	3	210	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	26			Interaction with HRMT1L2.|Transcription activation (acidic).		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.78delT	CCDS11118.1																																																																																				0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		56	23						56	23	---	---	---	---
