#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
BTD	686	broad.mit.edu	37	3	15677045	15677045	+	Missense_Mutation	SNP	C	C	G	rs397514337		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:15677045C>G	ENST00000303498.5	+	2	268	c.159C>G	c.(157-159)caC>caG	p.H53Q	BTD_ENST00000482824.1_3'UTR|BTD_ENST00000449107.1_Missense_Mutation_p.H55Q|BTD_ENST00000437172.1_Missense_Mutation_p.H55Q|BTD_ENST00000383778.4_Missense_Mutation_p.H33Q	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	53					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CTGACCATCACGAGGCTGAAT	0.562																																						ENST00000383778.4																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18	GRCh37	CM051396	BTD	M		c.(97-99)caC>caG		biotinidase							138.0	127.0	131.0					3																	15677045		2203	4300	6503	SO:0001583	missense	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15677045C>G	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.159C>G	3.37:g.15677045C>G	ENSP00000306477:p.His53Gln					BTD_ENST00000449107.1_Missense_Mutation_p.H55Q|BTD_ENST00000303498.5_Missense_Mutation_p.H53Q|BTD_ENST00000437172.1_Missense_Mutation_p.H55Q|BTD_ENST00000482824.1_3'UTR	p.H33Q			P43251	BTD_HUMAN			2	457	+			53					A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	ENST00000303498.5	37	c.99C>G	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.770033	0.00645	.	.	ENSG00000169814	ENST00000427382;ENST00000449107;ENST00000303498;ENST00000437172;ENST00000436193;ENST00000383778	D;D;D;D;D;D	0.95035	-3.59;-2.36;-2.36;-2.35;-2.1;-2.34	3.24	-3.23	0.05109	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (1);	2.616380	0.01334	N	0.011357	D	0.85431	0.5695	N	0.08118	0	0.09310	N	1	B;B;B	0.12630	0.006;0.006;0.003	B;B;B	0.06405	0.002;0.002;0.002	T	0.79055	-0.1960	10	0.13470	T	0.59	-30.1671	7.5651	0.27874	0.0:0.2317:0.575:0.1932	.	55;55;53	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	Q	33;55;53;55;33;33	ENSP00000397113:H33Q;ENSP00000388212:H55Q;ENSP00000306477:H53Q;ENSP00000400995:H55Q;ENSP00000394277:H33Q;ENSP00000373288:H33Q	ENSP00000306477:H53Q	H	+	3	2	BTD	15652049	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.881000	0.04179	-0.837000	0.04223	-1.193000	0.01689	CAC		0.562	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		4	258	0	0	0	1	0	4	258				
NEBL	10529	broad.mit.edu	37	10	21139359	21139359	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr10:21139359G>C	ENST00000377122.4	-	11	1477	c.1081C>G	c.(1081-1083)Caa>Gaa	p.Q361E	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	361					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTGAAGCTTGATATGATGGT	0.313																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(1081-1083)Caa>Gaa		nebulette							190.0	181.0	184.0					10																	21139359		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21139359G>C	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1081C>G	10.37:g.21139359G>C	ENSP00000366326:p.Gln361Glu					NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	p.Q361E	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			11	1477	-			361					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1081C>G	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486448	0.44249	.	.	ENSG00000078114	ENST00000377122	T	0.46819	0.86	5.27	5.27	0.74061	.	0.126191	0.53938	D	0.000045	T	0.61148	0.2324	M	0.69463	2.115	0.80722	D	1	P	0.45986	0.87	P	0.53988	0.739	T	0.55854	-0.8075	10	0.28530	T	0.3	.	18.0287	0.89276	0.0:0.0:1.0:0.0	.	361	O76041	NEBL_HUMAN	E	361	ENSP00000366326:Q361E	ENSP00000366326:Q361E	Q	-	1	0	NEBL	21179365	1.000000	0.71417	0.993000	0.49108	0.948000	0.59901	5.475000	0.66787	2.640000	0.89533	0.655000	0.94253	CAA		0.313	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		81	148	0	0	0	1	0	81	148				
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						ENST00000341068.3																			5	Substitution - Missense(5)	p.T537A(5)	lung(3)|kidney(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1609-1611)Act>Gct		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala						p.T537A	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			14	2381	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		4	266	0	0	0	1	0	4	266				
CHCHD4	131474	broad.mit.edu	37	3	14154514	14154514	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:14154514T>G	ENST00000396914.3	-	3	483	c.302A>C	c.(301-303)tAc>tCc	p.Y101S	CHCHD4_ENST00000295767.5_Missense_Mutation_p.Y114S	NM_001098502.1	NP_001091972.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	101					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein import into mitochondrial intermembrane space (GO:0045041)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)	mitochondrial intermembrane space (GO:0005758)	protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GAGGTCTGGGTATTTCTGCAT	0.507																																						ENST00000295767.5																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(340-342)tAc>tCc		coiled-coil-helix-coiled-coil-helix domain containing 4							98.0	89.0	92.0					3																	14154514		2203	4300	6503	SO:0001583	missense	131474				protein transport|transmembrane transport	mitochondrial intermembrane space		g.chr3:14154514T>G	BC017082	CCDS2617.1, CCDS43054.1	3p25.1	2012-10-15			ENSG00000163528	ENSG00000163528		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	26467	protein-coding gene	gene with protein product	"""translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae)"", ""mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)"""	611077				22214851	Standard	NM_001098502		Approved	FLJ31709, TIMM40, MIA40	uc003byj.4	Q8N4Q1	OTTHUMG00000129805	ENST00000396914.3:c.302A>C	3.37:g.14154514T>G	ENSP00000380122:p.Tyr101Ser					CHCHD4_ENST00000396914.3_Missense_Mutation_p.Y101S	p.Y114S	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN			4	665	-			101			Asp/Glu-rich (acidic).		A8K3Z9|Q96AI2|Q96MY6	Missense_Mutation	SNP	ENST00000396914.3	37	c.341A>C	CCDS43054.1	.	.	.	.	.	.	.	.	.	.	.	22.7	4.321574	0.81580	.	.	ENSG00000163528	ENST00000295767;ENST00000396914	.	.	.	5.61	5.61	0.85477	.	0.054513	0.85682	D	0.000000	T	0.76357	0.3976	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.91635	0.852;0.999	T	0.78196	-0.2298	9	0.62326	D	0.03	-32.705	15.8055	0.78501	0.0:0.0:0.0:1.0	.	101;114	Q8N4Q1;Q8N4Q1-2	MIA40_HUMAN;.	S	114;101	.	ENSP00000295767:Y114S	Y	-	2	0	CHCHD4	14129515	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.883000	0.63128	2.134000	0.65973	0.482000	0.46254	TAC		0.507	CHCHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340423.1	NM_144636		37	56	0	0	0	1	0	37	56				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			0							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	348	0	0	0	1	0	5	348				
RBBP5	5929	broad.mit.edu	37	1	205068185	205068185	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:205068185A>G	ENST00000264515.6	-	10	1169	c.1028T>C	c.(1027-1029)gTa>gCa	p.V343A	RBBP5_ENST00000367164.1_Missense_Mutation_p.V343A	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	343					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTCGTATTCTACATTTTCATC	0.353																																						ENST00000264515.6																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1027-1029)gTa>gCa		retinoblastoma binding protein 5							190.0	180.0	183.0					1																	205068185		2202	4300	6502	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205068185A>G	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.1028T>C	1.37:g.205068185A>G	ENSP00000264515:p.Val343Ala					RBBP5_ENST00000367164.1_Missense_Mutation_p.V343A	p.V343A	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		10	1169	-	Breast(84;0.0505)		343					A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.1028T>C	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.029525	0.75504	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.63580	-0.05;-0.03	5.63	5.63	0.86233	.	0.116680	0.64402	D	0.000019	T	0.67887	0.2941	M	0.78285	2.405	0.80722	D	1	P;P;P;P	0.45044	0.849;0.765;0.849;0.765	P;B;B;B	0.44623	0.455;0.243;0.425;0.287	T	0.69617	-0.5097	10	0.35671	T	0.21	.	15.5124	0.75793	1.0:0.0:0.0:0.0	.	216;378;343;343	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	A	343	ENSP00000264515:V343A;ENSP00000356132:V343A	ENSP00000264515:V343A	V	-	2	0	RBBP5	203334808	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.244000	0.95423	2.145000	0.66743	0.455000	0.32223	GTA		0.353	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		57	78	0	0	0	1	0	57	78				
EP300	2033	broad.mit.edu	37	22	41523588	41523588	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr22:41523588G>A	ENST00000263253.7	+	4	2223	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	335					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAGAGAAGCGCAAGCTCATC	0.602			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(1003-1005)cGc>cAc		E1A binding protein p300							107.0	103.0	104.0					22																	41523588		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41523588G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1004G>A	22.37:g.41523588G>A	ENSP00000263253:p.Arg335His						p.R335H	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			4	2223	+			335					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.1004G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	36	5.717908	0.96839	.	.	ENSG00000100393	ENST00000263253	D	0.86164	-2.08	6.02	6.02	0.97574	Zinc finger, TAZ-type (4);	0.000000	0.48767	D	0.000176	D	0.93396	0.7894	M	0.78456	2.415	0.58432	D	0.999992	D	0.64830	0.994	P	0.62885	0.908	D	0.93138	0.6539	10	0.72032	D	0.01	-8.0858	20.5373	0.99239	0.0:0.0:1.0:0.0	.	335	Q09472	EP300_HUMAN	H	335	ENSP00000263253:R335H	ENSP00000263253:R335H	R	+	2	0	EP300	39853534	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.857000	0.98124	0.650000	0.86243	CGC		0.602	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		6	267	0	0	0	1	0	6	267				
ITGA4	3676	broad.mit.edu	37	2	182358103	182358103	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr2:182358103T>C	ENST00000397033.2	+	11	1635	c.1205T>C	c.(1204-1206)aTt>aCt	p.I402T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	402					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.I402S(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GCTATTTATATTTACAATGGC	0.348																																						ENST00000397033.2																			1	Substitution - Missense(1)	p.I402S(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1204-1206)aTt>aCt		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						113.0	106.0	109.0					2																	182358103		1859	4102	5961	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182358103T>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1205T>C	2.37:g.182358103T>C	ENSP00000380227:p.Ile402Thr						p.I402T	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		11	1635	+			402					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1205T>C	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.358042	0.82243	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.62232	0.04;0.04	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.85004	0.5598	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89256	0.3594	10	0.87932	D	0	.	16.2005	0.82071	0.0:0.0:0.0:1.0	.	402	P13612	ITA4_HUMAN	T	402	ENSP00000380227:I402T;ENSP00000233573:I402T	ENSP00000233573:I402T	I	+	2	0	ITGA4	182066348	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.929000	0.75852	2.227000	0.72691	0.528000	0.53228	ATT		0.348	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			71	96	0	0	0	1	0	71	96				
KEAP1	9817	broad.mit.edu	37	19	10602360	10602360	+	Silent	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:10602360G>A	ENST00000171111.5	-	3	1765	c.1218C>T	c.(1216-1218)tgC>tgT	p.C406C	KEAP1_ENST00000588024.1_5'Flank|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Silent_p.C406C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	406					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	TCATGGGGGCGCAGGGCGACC	0.652																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(1216-1218)tgC>tgT		kelch-like ECH-associated protein 1							34.0	29.0	31.0					19																	10602360		2202	4299	6501	SO:0001819	synonymous_variant	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602360G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1218C>T	19.37:g.10602360G>A						KEAP1_ENST00000393623.2_Silent_p.C406C	p.C406C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1765	-			406					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP	ENST00000171111.5	37	c.1218C>T	CCDS12239.1																																																																																				0.652	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		12	18	0	0	0	1	0	12	18				
KCNJ9	3765	broad.mit.edu	37	1	160054019	160054019	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:160054019G>C	ENST00000368088.3	+	2	441	c.199G>C	c.(199-201)Gcc>Ccc	p.A67P		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	67					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCGTCCTGGCCTACGCGCT	0.667																																						ENST00000368088.3																			0				biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16						c.(199-201)Gcc>Ccc		potassium inwardly-rectifying channel, subfamily J, member 9							69.0	48.0	55.0					1																	160054019		2203	4300	6503	SO:0001583	missense	3765				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr1:160054019G>C	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.199G>C	1.37:g.160054019G>C	ENSP00000357067:p.Ala67Pro						p.A67P	NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	441	+	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		67					Q5JW75	Missense_Mutation	SNP	ENST00000368088.3	37	c.199G>C	CCDS1194.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211028	0.79240	.	.	ENSG00000162728	ENST00000368088	D	0.94966	-3.57	4.71	4.71	0.59529	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.94958	0.8369	M	0.78344	2.41	0.54753	D	0.99998	P	0.50528	0.936	P	0.51266	0.664	D	0.95546	0.8616	10	0.72032	D	0.01	.	16.4326	0.83859	0.0:0.0:1.0:0.0	.	67	Q92806	IRK9_HUMAN	P	67	ENSP00000357067:A67P	ENSP00000357067:A67P	A	+	1	0	KCNJ9	158320643	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	7.886000	0.87288	2.151000	0.67156	0.430000	0.28490	GCC		0.667	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983		4	38	0	0	0	1	0	4	38				
FRAS1	80144	broad.mit.edu	37	4	79240069	79240069	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr4:79240069G>A	ENST00000325942.6	+	18	2506	c.2066G>A	c.(2065-2067)gGc>gAc	p.G689D	FRAS1_ENST00000264899.6_Missense_Mutation_p.G689D|FRAS1_ENST00000264895.6_Missense_Mutation_p.G689D	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	689					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTGACGTGGGCATCCCCTCT	0.532																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(2065-2067)gGc>gAc		Fraser syndrome 1							135.0	138.0	137.0					4																	79240069		1983	4162	6145	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79240069G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.2066G>A	4.37:g.79240069G>A	ENSP00000326330:p.Gly689Asp					FRAS1_ENST00000325942.6_Missense_Mutation_p.G689D|FRAS1_ENST00000264899.6_Missense_Mutation_p.G689D	p.G689D	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			18	2506	+			689					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.2066G>A	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.443|3.443	-0.113716|-0.113716	0.06881|0.06881	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000325942;ENST00000264895;ENST00000264899	.|T;T;T	.|0.18338	.|2.22;2.6;2.36	5.11|5.11	2.58|2.58	0.30949|0.30949	.|Growth factor, receptor (1);	.|1.362840	.|0.04543	.|N	.|0.388571	T|T	0.12390|0.12390	0.0301|0.0301	N|N	0.21142|0.21142	0.635|0.635	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.10296	.|0.001;0.003;0.001;0.001	.|B;B;B;B	.|0.10450	.|0.005;0.003;0.003;0.002	T|T	0.30736|0.30736	-0.9968|-0.9968	5|10	.|0.33940	.|T	.|0.23	.|.	4.4279|4.4279	0.11513|0.11513	0.6792:0.1929:0.1278:0.0|0.6792:0.1929:0.1278:0.0	.|.	.|689;689;689;689	.|E9PHH6;Q86XX4;E7EWM9;A2RRR8	.|.;FRAS1_HUMAN;.;.	T|D	618|689	.|ENSP00000326330:G689D;ENSP00000264895:G689D;ENSP00000264899:G689D	.|ENSP00000264895:G689D	A|G	+|+	1|2	0|0	FRAS1|FRAS1	79459093|79459093	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	0.782000|0.782000	0.26788|0.26788	0.454000|0.454000	0.26884|0.26884	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.532	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			4	167	0	0	0	1	0	4	167				
TOP2B	7155	broad.mit.edu	37	3	25646328	25646328	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:25646328G>C	ENST00000264331.4	-	33	4411	c.4412C>G	c.(4411-4413)tCt>tGt	p.S1471C	TOP2B_ENST00000435706.2_Missense_Mutation_p.S1466C|TOP2B_ENST00000542520.1_Missense_Mutation_p.S323C|TOP2B_ENST00000540199.1_Missense_Mutation_p.S323C	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1471					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	AACAGAAGCAGAATCTTCTTC	0.323																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(4396-4398)tCt>tGt		topoisomerase (DNA) II beta 180kDa							120.0	112.0	115.0					3																	25646328		1809	4068	5877	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25646328G>C	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4412C>G	3.37:g.25646328G>C	ENSP00000264331:p.Ser1471Cys					TOP2B_ENST00000264331.4_Missense_Mutation_p.S1471C|TOP2B_ENST00000540199.1_Missense_Mutation_p.S323C|TOP2B_ENST00000542520.1_Missense_Mutation_p.S323C	p.S1466C			Q02880	TOP2B_HUMAN			33	4598	-			1471					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.4397C>G		.	.	.	.	.	.	.	.	.	.	G	20.7	4.028144	0.75390	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.48836	0.8;0.87;0.87;0.8	5.48	5.48	0.80851	.	0.592967	0.18912	N	0.127729	T	0.45538	0.1347	N	0.08118	0	0.43517	D	0.995781	P;D	0.61697	0.577;0.99	B;P	0.55824	0.334;0.785	T	0.54490	-0.8286	10	0.59425	D	0.04	-11.8199	17.9046	0.88914	0.0:0.0:1.0:0.0	.	1471;1466	Q02880;Q02880-2	TOP2B_HUMAN;.	C	323;1466;1471;323	ENSP00000446023:S323C;ENSP00000396704:S1466C;ENSP00000264331:S1471C;ENSP00000437352:S323C	ENSP00000264331:S1471C	S	-	2	0	TOP2B	25621332	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.786000	0.62425	2.722000	0.93159	0.563000	0.77884	TCT		0.323	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				39	143	0	0	0	1	0	39	143				
MUC4	4585	broad.mit.edu	37	3	195505859	195505859	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:195505859T>C	ENST00000463781.3	-	2	13051	c.12592A>G	c.(12592-12594)Act>Gct	p.T4198A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T4198A|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T4198A(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGTGTCGGTGACA	0.602																																						ENST00000463781.3																			2	Substitution - Missense(2)	p.T4198A(2)	endometrium(1)|kidney(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12592-12594)Act>Gct		mucin 4, cell surface associated							19.0	15.0	16.0					3																	195505859		689	1576	2265	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505859T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12592A>G	3.37:g.195505859T>C	ENSP00000417498:p.Thr4198Ala					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T4198A	p.T4198A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13051	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	961					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12592A>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	1.310	-0.602470	0.03744	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35789	1.42;1.29	.	.	.	.	.	.	.	.	T	0.15739	0.0379	N	0.14661	0.345	0.18873	N	0.999989	B	0.14438	0.01	B	0.15870	0.014	T	0.21827	-1.0234	7	.	.	.	.	4.4479	0.11606	0.0:0.2715:0.0:0.7285	.	4070	E7ESK3	.	A	4198	ENSP00000417498:T4198A;ENSP00000420243:T4198A	.	T	-	1	0	MUC4	196990638	0.000000	0.05858	0.008000	0.14137	0.030000	0.12068	-0.602000	0.05680	-1.729000	0.01364	-1.976000	0.00459	ACT		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	7	0	0	0	1	0	3	7				
ARHGAP20	57569	broad.mit.edu	37	11	110479714	110479714	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr11:110479714G>C	ENST00000260283.4	-	9	1053	c.769C>G	c.(769-771)Ctc>Gtc	p.L257V	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L231V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L221V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L234V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L221V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L231V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	257	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTACCAATGAGTGGGTATGGA	0.358																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(769-771)Ctc>Gtc		Rho GTPase activating protein 20							115.0	126.0	122.0					11																	110479714		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110479714G>C	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.769C>G	11.37:g.110479714G>C	ENSP00000260283:p.Leu257Val					ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L221V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L231V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L221V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L234V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L231V	p.L257V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	9	1053	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	257			Ras-associating.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.769C>G	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688895	0.68271	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.76	5.76	0.90799	Ras-association (2);	0.000000	0.85682	D	0.000000	T	0.71273	0.3320	M	0.79011	2.435	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70487	0.969;0.948	T	0.72997	-0.4121	10	0.87932	D	0	.	19.9345	0.97131	0.0:0.0:1.0:0.0	.	257;234	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	V	257;231;234;221;231;221	ENSP00000260283:L257V;ENSP00000349660:L231V;ENSP00000432076:L234V;ENSP00000436319:L221V;ENSP00000436522:L231V;ENSP00000431399:L221V	ENSP00000260283:L257V	L	-	1	0	ARHGAP20	109984924	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	8.305000	0.89960	2.882000	0.98803	0.655000	0.94253	CTC		0.358	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		13	381	0	0	0	1	0	13	381				
ERICH3	127254	broad.mit.edu	37	1	75072290	75072290	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:75072290T>C	ENST00000326665.5	-	10	1702	c.1484A>G	c.(1483-1485)aAa>aGa	p.K495R	C1orf173_ENST00000420661.2_Missense_Mutation_p.K298R|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		495	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATTACCATATTTTAAAGTATT	0.353																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(1483-1485)aAa>aGa		chromosome 1 open reading frame 173							146.0	147.0	147.0					1																	75072290		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75072290T>C																												ENST00000326665.5:c.1484A>G	1.37:g.75072290T>C	ENSP00000322609:p.Lys495Arg					RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.K298R	p.K495R	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			10	1702	-			495			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1484A>G	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.385837	0.42308	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.20200	2.49;2.09	5.01	5.01	0.66863	.	.	.	.	.	T	0.25082	0.0609	L	0.43152	1.355	0.30366	N	0.783308	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.03503	-1.1030	9	0.31617	T	0.26	-18.2449	14.6773	0.68989	0.0:0.0:0.0:1.0	.	298;495	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	R	495;298	ENSP00000322609:K495R;ENSP00000398581:K298R	ENSP00000322609:K495R	K	-	2	0	C1orf173	74844878	1.000000	0.71417	0.850000	0.33497	0.188000	0.23474	2.304000	0.43655	2.008000	0.58898	0.533000	0.62120	AAA		0.353	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			97	126	0	0	0	1	0	97	126				
USP6	9098	broad.mit.edu	37	17	5039223	5039223	+	Splice_Site	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:5039223G>A	ENST00000574788.1	+	17	2894	c.664G>A	c.(664-666)Gga>Aga	p.G222R	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Splice_Site_p.G222R|USP6_ENST00000332776.4_Splice_Site_p.G222R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	222	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTCCCTGCCAGGTAGGTGAAC	0.617			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.e17+1		ubiquitin specific peptidase 6 (Tre-2 oncogene)							61.0	52.0	55.0					17																	5039223		2203	4300	6503	SO:0001630	splice_region_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5039223G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.664+1G>A	17.37:g.5039223G>A						USP6_ENST00000332776.4_Splice_Site_p.G222_splice|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Splice_Site_p.G222_splice	p.G222_splice			P35125	UBP6_HUMAN			17	2894	+			222			Rab-GAP TBC.		Q15634|Q86WP6|Q8IWT4	Splice_Site	SNP	ENST00000574788.1	37	c.664_splice	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	18.13	3.556377	0.65425	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.42131	0.98;0.98	0.862	0.862	0.19056	Rab-GAP/TBC domain (4);	0.150642	0.64402	D	0.000019	T	0.56321	0.1977	M	0.75264	2.295	0.80722	D	1	D	0.69078	0.997	D	0.76575	0.988	T	0.53899	-0.8373	10	0.87932	D	0	.	5.4	0.16291	0.0:0.0:1.0:0.0	.	222	P35125	UBP6_HUMAN	R	222	ENSP00000328010:G222R;ENSP00000250066:G222R	ENSP00000250066:G222R	G	+	1	0	USP6	4979947	1.000000	0.71417	0.266000	0.24541	0.269000	0.26545	5.860000	0.69546	0.132000	0.18615	0.134000	0.15878	GGA		0.617	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	Missense_Mutation	17	65	0	0	0	1	0	17	65				
SORCS2	57537	broad.mit.edu	37	4	7728538	7728538	+	Missense_Mutation	SNP	C	C	A	rs373844040		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr4:7728538C>A	ENST00000507866.2	+	21	2886	c.2777C>A	c.(2776-2778)aCg>aAg	p.T926K	SORCS2_ENST00000329016.9_Missense_Mutation_p.T754K	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	926					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTGTGACAACGCGGTTTTCG	0.657																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2776-2778)aCg>aAg		sortilin-related VPS10 domain containing receptor 2							90.0	102.0	98.0					4																	7728538		2068	4169	6237	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7728538C>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2777C>A	4.37:g.7728538C>A	ENSP00000422185:p.Thr926Lys					SORCS2_ENST00000329016.9_Missense_Mutation_p.T754K	p.T926K	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			21	2886	+			926					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2777C>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858230	0.32791	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.15139	2.45;2.48	4.25	3.41	0.39046	.	0.293859	0.30649	N	0.009173	T	0.30916	0.0780	M	0.61703	1.905	0.53005	D	0.999968	D;D	0.63046	0.977;0.992	P;P	0.56960	0.638;0.81	T	0.02860	-1.1101	10	0.46703	T	0.11	.	12.3069	0.54908	0.0:0.9158:0.0:0.0842	.	754;926	B5MED8;Q96PQ0	.;SORC2_HUMAN	K	926;754	ENSP00000422185:T926K;ENSP00000329124:T754K	ENSP00000329124:T754K	T	+	2	0	SORCS2	7779438	0.999000	0.42202	0.008000	0.14137	0.001000	0.01503	4.675000	0.61619	0.920000	0.36970	-0.396000	0.06452	ACG		0.657	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		4	280	1	0	1	1	1	4	280				
LRP1B	53353	broad.mit.edu	37	2	141291650	141291650	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr2:141291650C>A	ENST00000389484.3	-	47	8673	c.7702G>T	c.(7702-7704)Ggc>Tgc	p.G2568C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2568	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)		CATAACTTGCCATGAGGAATG	0.383										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.(7702-7704)Ggc>Tgc		low density lipoprotein receptor-related protein 1B							100.0	96.0	97.0					2																	141291650		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141291650C>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.7702G>T	2.37:g.141291650C>A	ENSP00000374135:p.Gly2568Cys	TSP Lung(27;0.18)					p.G2568C	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)	47	8673	-		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)	2568			LDL-receptor class A 12.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7702G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124499	0.37533	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95447	-3.71	5.42	-1.5	0.08691	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.247257	0.38272	U	0.001743	D	0.92103	0.7497	L	0.49126	1.545	0.09310	N	1	P	0.37955	0.612	B	0.38500	0.275	D	0.86342	0.1705	10	0.59425	D	0.04	.	11.7969	0.52104	0.0:0.302:0.0:0.698	.	2568	Q9NZR2	LRP1B_HUMAN	C	2568;2506	ENSP00000374135:G2568C	ENSP00000374135:G2568C	G	-	1	0	LRP1B	141008120	0.002000	0.14202	0.186000	0.23195	0.864000	0.49448	0.125000	0.15749	-0.134000	0.11516	0.563000	0.77884	GGC		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		74	96	1	0	8.09925e-49	1	9.09608e-49	74	96				
TOP2B	7155	broad.mit.edu	37	3	25646358	25646358	+	Nonsense_Mutation	SNP	G	G	C	rs370666167		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:25646358G>C	ENST00000264331.4	-	33	4381	c.4382C>G	c.(4381-4383)tCa>tGa	p.S1461*	TOP2B_ENST00000435706.2_Nonsense_Mutation_p.S1456*|TOP2B_ENST00000542520.1_Nonsense_Mutation_p.S313*|TOP2B_ENST00000540199.1_Nonsense_Mutation_p.S313*	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1461					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	AAATTTAGCTGAATCTAAAAA	0.338																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(4366-4368)tCa>tGa		topoisomerase (DNA) II beta 180kDa							79.0	72.0	74.0					3																	25646358		1799	4065	5864	SO:0001587	stop_gained	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25646358G>C	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4382C>G	3.37:g.25646358G>C	ENSP00000264331:p.Ser1461*					TOP2B_ENST00000264331.4_Nonsense_Mutation_p.S1461*|TOP2B_ENST00000540199.1_Nonsense_Mutation_p.S313*|TOP2B_ENST00000542520.1_Nonsense_Mutation_p.S313*	p.S1456*			Q02880	TOP2B_HUMAN			33	4568	-			1461					Q13600|Q9UMG8|Q9UQP8	Nonsense_Mutation	SNP	ENST00000264331.4	37	c.4367C>G		.	.	.	.	.	.	.	.	.	.	G	42	9.677581	0.99236	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	.	.	.	5.48	4.56	0.56223	.	0.660178	0.14654	N	0.306392	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-10.491	15.2936	0.73885	0.0:0.1389:0.8611:0.0	.	.	.	.	X	313;1456;1461;313	.	ENSP00000264331:S1461X	S	-	2	0	TOP2B	25621362	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.704000	0.54815	2.722000	0.93159	0.563000	0.77884	TCA		0.338	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				22	112	0	0	0	1	0	22	112				
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AGGTTCTTGCGCAGAATTCTG	0.383																																						ENST00000442266.1																			0																																																			0							g.chr7:65226641G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226641G>T														0	1167	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		4	73	1	0	0.00909568	1	0.0093519	4	73				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	68	0	0	0	1	0	4	68				
WDR19	57728	broad.mit.edu	37	4	39271708	39271708	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr4:39271708T>A	ENST00000399820.3	+	31	3625	c.3471T>A	c.(3469-3471)taT>taA	p.Y1157*	WDR19_ENST00000288634.7_Nonsense_Mutation_p.Y997*	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1157					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TGCACAGCTATATACTAGTAA	0.473																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(3469-3471)taT>taA		WD repeat domain 19							110.0	102.0	104.0					4																	39271708		1904	4140	6044	SO:0001587	stop_gained	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39271708T>A	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3471T>A	4.37:g.39271708T>A	ENSP00000382717:p.Tyr1157*					WDR19_ENST00000288634.7_Nonsense_Mutation_p.Y997*	p.Y1157*	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN			31	3625	+			1157					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Nonsense_Mutation	SNP	ENST00000399820.3	37	c.3471T>A	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	T	45	11.378299	0.99554	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	.	.	.	5.63	-0.262	0.12958	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4427	10.4572	0.44557	0.0:0.3739:0.0:0.6261	.	.	.	.	X	1157;997	.	ENSP00000288634:Y997X	Y	+	3	2	WDR19	38948103	0.972000	0.33761	0.337000	0.25536	0.862000	0.49288	0.161000	0.16481	0.083000	0.17047	0.460000	0.39030	TAT		0.473	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			24	100	0	0	0	1	0	24	100				
MOGAT3	346606	broad.mit.edu	37	7	100839297	100839297	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:100839297A>G	ENST00000223114.4	-	7	1122	c.956T>C	c.(955-957)cTg>cCg	p.L319P	MOGAT3_ENST00000379423.3_Silent_p.P251P|MOGAT3_ENST00000440203.2_3'UTR	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	319					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGCTGCTCCAGGGCCGTCAT	0.662																																						ENST00000223114.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(955-957)cTg>cCg		monoacylglycerol O-acyltransferase 3							66.0	63.0	64.0					7																	100839297		2203	4300	6503	SO:0001583	missense	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100839297A>G	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.956T>C	7.37:g.100839297A>G	ENSP00000223114:p.Leu319Pro					MOGAT3_ENST00000440203.2_3'UTR|MOGAT3_ENST00000379423.3_Silent_p.P251P	p.L319P	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN			7	1122	-	Lung NSC(181;0.168)|all_lung(186;0.215)		319					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.956T>C	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.842255	0.32513	.	.	ENSG00000106384	ENST00000223114	D	0.94417	-3.42	4.96	3.76	0.43208	.	0.160731	0.40818	N	0.001008	D	0.97736	0.9257	H	0.96996	3.92	0.35352	D	0.787454	D	0.89917	1.0	D	0.74348	0.983	D	0.98417	1.0575	10	0.87932	D	0	.	7.7183	0.28717	0.901:0.0:0.099:0.0	.	319	Q86VF5	MOGT3_HUMAN	P	319	ENSP00000223114:L319P	ENSP00000223114:L319P	L	-	2	0	MOGAT3	100626017	0.980000	0.34600	0.053000	0.19242	0.023000	0.10783	6.831000	0.75324	0.689000	0.31550	0.528000	0.53228	CTG		0.662	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		4	135	0	0	0	1	0	4	135				
OR2A2	442361	broad.mit.edu	37	7	143807373	143807373	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:143807373G>A	ENST00000408979.2	+	1	767	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AAGGAGGGCCGCATAAAGGCC	0.522																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(697-699)cGc>cAc		olfactory receptor, family 2, subfamily A, member 2							104.0	108.0	107.0					7																	143807373		2071	4233	6304	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807373G>A		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.698G>A	7.37:g.143807373G>A	ENSP00000386209:p.Arg233His						p.R233H	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	767	+	Melanoma(164;0.0783)		233					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.698G>A	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880455	0.33255	.	.	ENSG00000221989	ENST00000408979	T	0.00333	8.07	3.47	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33327	U	0.005027	T	0.00524	0.0017	M	0.89904	3.07	0.09310	N	1	P	0.35821	0.523	B	0.40940	0.344	T	0.08027	-1.0742	10	0.72032	D	0.01	-4.2634	12.7847	0.57498	0.0:0.0:1.0:0.0	.	233	Q6IF42	OR2A2_HUMAN	H	233	ENSP00000386209:R233H	ENSP00000386209:R233H	R	+	2	0	OR2A2	143438306	0.000000	0.05858	0.365000	0.25901	0.643000	0.38383	0.412000	0.21131	1.938000	0.56188	0.511000	0.50034	CGC		0.522	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			5	367	0	0	0	1	0	5	367				
C10orf12	26148	broad.mit.edu	37	10	98741872	98741872	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr10:98741872G>C	ENST00000286067.2	+	1	832	c.725G>C	c.(724-726)aGa>aCa	p.R242T		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	242										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCAGCCCCTAGACATACAGTA	0.498																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(724-726)aGa>aCa		chromosome 10 open reading frame 12							96.0	96.0	96.0					10																	98741872		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98741872G>C	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.725G>C	10.37:g.98741872G>C	ENSP00000286067:p.Arg242Thr						p.R242T	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	832	+		Colorectal(252;0.172)	242					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.725G>C	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	1.001	-0.690998	0.03303	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.06933	3.24	6.05	-0.792	0.10925	.	0.968065	0.08459	N	0.942732	T	0.04092	0.0114	N	0.14661	0.345	0.09310	N	1	B;B	0.26708	0.157;0.157	B;B	0.21917	0.037;0.037	T	0.47636	-0.9102	10	0.15952	T	0.53	-1.1171	5.2383	0.15458	0.3099:0.2464:0.4436:0.0	.	76;242	A0PJI9;Q8N655	.;CJ012_HUMAN	T	242;76	ENSP00000286067:R242T	ENSP00000286067:R242T	R	+	2	0	C10orf12	98731862	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.683000	0.25349	-0.424000	0.07382	-0.150000	0.13652	AGA		0.498	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		21	155	0	0	0	1	0	21	155				
ST7	7982	broad.mit.edu	37	7	116739883	116739883	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:116739883A>G	ENST00000393446.2	+	2	522	c.219A>G	c.(217-219)atA>atG	p.I73M	ST7_ENST00000393447.4_Missense_Mutation_p.I30M|ST7_ENST00000393444.3_Missense_Mutation_p.I30M|ST7_ENST00000393449.1_Missense_Mutation_p.I73M|ST7_ENST00000393451.3_Missense_Mutation_p.I73M|ST7_ENST00000432298.1_Missense_Mutation_p.I27M|ST7_ENST00000323984.3_Missense_Mutation_p.I73M|ST7-AS2_ENST00000432541.1_RNA|ST7_ENST00000265437.5_Missense_Mutation_p.I73M|ST7_ENST00000393443.1_Missense_Mutation_p.I23M|ST7_ENST00000422922.1_Missense_Mutation_p.I27M|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000465133.1_Missense_Mutation_p.I30M			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	503	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.I73I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCTCACTAATATCAGGGCTTA	0.373																																						ENST00000265437.5																			1	Substitution - coding silent(1)	p.I73I(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21						c.(217-219)atA>atG		suppression of tumorigenicity 7							133.0	120.0	124.0					7																	116739883		2203	4300	6503	SO:0001583	missense	7982					integral to membrane	binding	g.chr7:116739883A>G	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.219A>G	7.37:g.116739883A>G	ENSP00000377092:p.Ile73Met					ST7-AS2_ENST00000432541.1_RNA|ST7_ENST00000393447.4_Missense_Mutation_p.I30M|ST7_ENST00000393443.1_Missense_Mutation_p.I23M|ST7_ENST00000393444.3_Missense_Mutation_p.I30M|ST7_ENST00000422922.1_Missense_Mutation_p.I27M|ST7_ENST00000393449.1_Missense_Mutation_p.I73M|ST7_ENST00000393451.3_Missense_Mutation_p.I73M|ST7_ENST00000393446.2_Missense_Mutation_p.I73M|ST7_ENST00000432298.1_Missense_Mutation_p.I27M|ST7_ENST00000323984.3_Missense_Mutation_p.I73M|ST7_ENST00000465133.1_Missense_Mutation_p.I30M|ST7_ENST00000487459.1_3'UTR	p.I73M	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	2	433	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		73					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37	c.219A>G		.	.	.	.	.	.	.	.	.	.	A	19.72	3.880785	0.72294	.	.	ENSG00000004866	ENST00000393446;ENST00000265437;ENST00000393451;ENST00000323984;ENST00000393449;ENST00000417919;ENST00000446490;ENST00000421345;ENST00000432298;ENST00000422922;ENST00000449366;ENST00000434836;ENST00000393443;ENST00000465133;ENST00000477742;ENST00000393447;ENST00000393444;ENST00000420755;ENST00000490039	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.83	4.73	0.59995	.	0.095008	0.64402	D	0.000001	T	0.47040	0.1424	M	0.77103	2.36	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	0.996;0.996;0.996;0.985;0.979;0.988;1.0	D;D;D;P;D;D;D	0.97110	0.991;0.97;0.991;0.861;0.952;0.977;1.0	T	0.50233	-0.8852	10	0.87932	D	0	-16.6449	6.2681	0.20939	0.5707:0.3019:0.0:0.1275	.	21;30;73;23;27;73;73	C9JU30;B7Z4L1;B7Z573;Q9NRC1-6;B7Z4U3;Q9NRC1-2;Q9NRC1	.;.;.;.;.;.;ST7_HUMAN	M	73;73;73;73;73;23;73;21;27;27;23;21;23;30;21;30;30;21;21	ENSP00000377092:I73M;ENSP00000265437:I73M;ENSP00000377097:I73M;ENSP00000325673:I73M;ENSP00000377095:I73M;ENSP00000391444:I23M;ENSP00000402934:I73M;ENSP00000416858:I21M;ENSP00000411118:I27M;ENSP00000414031:I27M;ENSP00000413601:I23M;ENSP00000393040:I21M;ENSP00000377089:I23M;ENSP00000420052:I30M;ENSP00000419715:I21M;ENSP00000377093:I30M;ENSP00000377090:I30M;ENSP00000388698:I21M;ENSP00000419516:I21M	ENSP00000265437:I73M	I	+	3	3	ST7	116527119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.637000	0.46553	2.219000	0.72066	0.533000	0.62120	ATA		0.373	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908		4	186	0	0	0	1	0	4	186				
PPM1K	152926	broad.mit.edu	37	4	89190005	89190005	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr4:89190005T>C	ENST00000608933.1	-	4	984	c.595A>G	c.(595-597)Att>Gtt	p.I199V	PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000295908.7_Missense_Mutation_p.I199V|PPM1K_ENST00000508256.1_5'UTR	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	199	PP2C-like.				protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		ACCAGTTCAATACCATCTCGC	0.428																																						ENST00000295908.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13						c.(595-597)Att>Gtt		protein phosphatase, Mg2+/Mn2+ dependent, 1K							129.0	126.0	127.0					4																	89190005		2203	4300	6503	SO:0001583	missense	152926				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr4:89190005T>C	BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.595A>G	4.37:g.89190005T>C	ENSP00000477341:p.Ile199Val					PPM1K_ENST00000513546.2_5'UTR|PPM1K_ENST00000506423.1_3'UTR	p.I199V	NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	4	984	-		Hepatocellular(203;0.114)	199			PP2C-like.		B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	ENST00000608933.1	37	c.595A>G	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	T	7.528	0.658154	0.14645	.	.	ENSG00000163644	ENST00000295908	T	0.16597	2.33	5.31	4.14	0.48551	Protein phosphatase 2C-like (5);	0.097482	0.64402	N	0.000001	T	0.10465	0.0256	N	0.21448	0.665	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14643	-1.0465	10	0.15952	T	0.53	-15.2444	9.8072	0.40801	0.0:0.0832:0.0:0.9168	.	199	Q8N3J5	PPM1K_HUMAN	V	199	ENSP00000295908:I199V	ENSP00000295908:I199V	I	-	1	0	PPM1K	89409029	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	4.916000	0.63362	1.165000	0.42670	0.528000	0.53228	ATT		0.428	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542		65	147	0	0	0	1	0	65	147				
INTS10	55174	broad.mit.edu	37	8	19701703	19701703	+	Silent	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr8:19701703C>T	ENST00000397977.3	+	15	2234	c.1836C>T	c.(1834-1836)tgC>tgT	p.C612C		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	612					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		ATAAAATTTGCCAACAAGGAA	0.368																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(1834-1836)tgC>tgT		integrator complex subunit 10							63.0	62.0	62.0					8																	19701703		1834	4098	5932	SO:0001819	synonymous_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19701703C>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1836C>T	8.37:g.19701703C>T							p.C612C	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	15	2234	+			612					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	c.1836C>T	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276169	0.23307	.	.	ENSG00000104613	ENST00000523772	.	.	.	6.06	2.98	0.34508	.	.	.	.	.	T	0.56337	0.1978	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51036	-0.8756	4	.	.	.	-17.047	7.7918	0.29125	0.0:0.6285:0.0:0.3715	.	.	.	.	V	49	.	.	A	+	2	0	INTS10	19745983	0.994000	0.37717	1.000000	0.80357	0.992000	0.81027	0.306000	0.19279	0.910000	0.36722	-0.145000	0.13849	GCC		0.368	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		4	163	0	0	0	1	0	4	163				
RP1	6101	broad.mit.edu	37	8	55534814	55534814	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr8:55534814C>G	ENST00000220676.1	+	3	901	c.753C>G	c.(751-753)taC>taG	p.Y251*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	251			Y -> C (in dbSNP:rs16920614).		axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGCGTGTGTACCCCAAGGGAA	0.433																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(751-753)taC>taG		retinitis pigmentosa 1 (autosomal dominant)							85.0	87.0	86.0					8																	55534814		2203	4300	6503	SO:0001587	stop_gained	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55534814C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.753C>G	8.37:g.55534814C>G	ENSP00000220676:p.Tyr251*						p.Y251*	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		3	901	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	251		Y -> C (in dbSNP:rs16920614).				Nonsense_Mutation	SNP	ENST00000220676.1	37	c.753C>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	35	5.430719	0.96150	.	.	ENSG00000104237	ENST00000427058;ENST00000220676	.	.	.	5.91	1.03	0.20045	.	1.052510	0.07417	N	0.893404	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.192	10.0823	0.42397	0.0:0.5966:0.0:0.4034	.	.	.	.	X	61;251	.	ENSP00000220676:Y251X	Y	+	3	2	RP1	55697367	0.000000	0.05858	0.060000	0.19600	0.797000	0.45037	-0.295000	0.08298	-0.090000	0.12462	0.655000	0.94253	TAC		0.433	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		55	115	0	0	0	1	0	55	115				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			8	124	1	0	5.18039e-06	1	5.4807e-06	8	124				
ZC2HC1A	51101	broad.mit.edu	37	8	79601604	79601604	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr8:79601604A>G	ENST00000263849.4	+	5	602	c.500A>G	c.(499-501)cAg>cGg	p.Q167R	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	167							metal ion binding (GO:0046872)										TCTCGGACACAGGTGGTAAGT	0.323																																						ENST00000263849.4																			0											c.(499-501)cAg>cGg		zinc finger, C2HC-type containing 1A							65.0	67.0	67.0					8																	79601604		2203	4299	6502	SO:0001583	missense	51101							g.chr8:79601604A>G		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.500A>G	8.37:g.79601604A>G	ENSP00000263849:p.Gln167Arg					ZC2HC1A_ENST00000521176.1_3'UTR	p.Q167R	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			5	602	+			167					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.500A>G	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.041286	0.75732	.	.	ENSG00000104427	ENST00000263849	T	0.47869	0.83	5.06	5.06	0.68205	.	0.051933	0.85682	D	0.000000	T	0.65281	0.2676	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65578	-0.6134	9	.	.	.	-7.1245	14.8005	0.69913	1.0:0.0:0.0:0.0	.	167	Q96GY0	F164A_HUMAN	R	167	ENSP00000263849:Q167R	.	Q	+	2	0	FAM164A	79764159	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	8.593000	0.90832	1.910000	0.55303	0.260000	0.18958	CAG		0.323	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		4	183	0	0	0	1	0	4	183				
PTPRK	5796	broad.mit.edu	37	6	128312442	128312442	+	Silent	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr6:128312442G>A	ENST00000368215.3	-	20	2972	c.2973C>T	c.(2971-2973)ggC>ggT	p.G991G	PTPRK_ENST00000368207.3_Silent_p.G1024G|PTPRK_ENST00000532331.1_Silent_p.G1014G|PTPRK_ENST00000368213.5_Silent_p.G998G|PTPRK_ENST00000368210.3_Silent_p.G1010G|PTPRK_ENST00000368227.3_Silent_p.G1009G|PTPRK_ENST00000368226.4_Silent_p.G992G			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	991	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTCTTACCCGGCCAACCTCAA	0.348																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(3025-3027)ggC>ggT		protein tyrosine phosphatase, receptor type, K							87.0	84.0	85.0					6																	128312442		2203	4300	6503	SO:0001819	synonymous_variant	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128312442G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2973C>T	6.37:g.128312442G>A						PTPRK_ENST00000368226.4_Silent_p.G992G|PTPRK_ENST00000532331.1_Silent_p.G1014G|PTPRK_ENST00000368210.3_Silent_p.G1010G|PTPRK_ENST00000368215.3_Silent_p.G991G|PTPRK_ENST00000368207.3_Silent_p.G1024G|PTPRK_ENST00000368213.5_Silent_p.G998G	p.G1009G			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	21	3393	-			991			Tyrosine-protein phosphatase 1.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	ENST00000368215.3	37	c.3027C>T		.	.	.	.	.	.	.	.	.	.	G	9.209	1.030410	0.19512	.	.	ENSG00000152894	ENST00000415046	.	.	.	6.07	4.18	0.49190	.	.	.	.	.	T	0.49064	0.1535	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50056	-0.8872	4	.	.	.	.	10.8046	0.46509	0.0:0.1087:0.5602:0.3311	.	.	.	.	V	285	.	.	A	-	2	0	PTPRK	128354135	0.980000	0.34600	1.000000	0.80357	0.977000	0.68977	0.129000	0.15830	1.554000	0.49487	0.650000	0.86243	GCC		0.348	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			4	149	0	0	0	1	0	4	149				
FAM111B	374393	broad.mit.edu	37	11	58892666	58892666	+	Missense_Mutation	SNP	C	C	T	rs374133736		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr11:58892666C>T	ENST00000343597.3	+	4	1287	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	FAM111B_ENST00000529618.1_Missense_Mutation_p.R336W|FAM111B_ENST00000411426.1_Missense_Mutation_p.R336W	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	366							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						ACAAGTTAGACGGAGGCCGCA	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		18536	0.001		0.0	False		,,,				2504	0.0					ENST00000343597.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(1096-1098)Cgg>Tgg		family with sequence similarity 111, member B		C	TRP/ARG,TRP/ARG,TRP/ARG	1,4399	2.1+/-5.4	0,1,2199	66.0	74.0	71.0		1006,1006,1096	1.2	0.0	11		71	3,8585	3.0+/-9.4	0,3,4291	no	missense,missense,missense	FAM111B	NM_001142703.1,NM_001142704.1,NM_198947.3	101,101,101	0,4,6490	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging,probably-damaging,probably-damaging	336/705,336/705,366/735	58892666	4,12984	2200	4294	6494	SO:0001583	missense	374393						catalytic activity	g.chr11:58892666C>T	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1096C>T	11.37:g.58892666C>T	ENSP00000341565:p.Arg366Trp					FAM111B_ENST00000411426.1_Missense_Mutation_p.R336W|FAM111B_ENST00000529618.1_Missense_Mutation_p.R336W	p.R366W	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN			4	1287	+			366					B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	c.1096C>T	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622551	0.28889	2.27E-4	3.49E-4	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.35236	1.32;1.32;1.32	2.17	1.2	0.21068	.	.	.	.	.	T	0.16214	0.0390	N	0.14661	0.345	0.09310	N	1	D	0.63880	0.993	B	0.38106	0.265	T	0.14643	-1.0465	9	0.66056	D	0.02	.	2.6583	0.05018	0.2892:0.547:0.0:0.1639	.	366	Q6SJ93	F111B_HUMAN	W	336;336;366	ENSP00000393855:R336W;ENSP00000432875:R336W;ENSP00000341565:R366W	ENSP00000341565:R366W	R	+	1	2	FAM111B	58649242	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	0.266000	0.18534	0.463000	0.27118	0.655000	0.94253	CGG		0.363	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		46	226	0	0	0	1	0	46	226				
GPRIN1	114787	broad.mit.edu	37	5	176026278	176026278	+	Silent	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr5:176026278C>T	ENST00000303991.4	-	2	735	c.558G>A	c.(556-558)gaG>gaA	p.E186E		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	186					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATTTCAGGCTCTGCCTTTC	0.502																																						ENST00000303991.4																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(556-558)gaG>gaA		G protein regulated inducer of neurite outgrowth 1							56.0	59.0	58.0					5																	176026278		2203	4300	6503	SO:0001819	synonymous_variant	114787					growth cone|plasma membrane		g.chr5:176026278C>T	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.558G>A	5.37:g.176026278C>T							p.E186E	NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	735	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	186					C9JM70|Q8ND74|Q96PZ4	Silent	SNP	ENST00000303991.4	37	c.558G>A	CCDS4405.1																																																																																				0.502	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		63	109	0	0	0	1	0	63	109				
KDM5A	5927	broad.mit.edu	37	12	419090	419090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr12:419090C>T	ENST00000399788.2	-	22	3619	c.3257G>A	c.(3256-3258)gGc>gAc	p.G1086D	KDM5A_ENST00000382815.4_Missense_Mutation_p.G1086D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1086					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CCTATTTTTGCCACTCCCATA	0.378			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3256-3258)gGc>gAc		lysine (K)-specific demethylase 5A							70.0	67.0	68.0					12																	419090		1801	4062	5863	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:419090C>T		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3257G>A	12.37:g.419090C>T	ENSP00000382688:p.Gly1086Asp					KDM5A_ENST00000382815.4_Missense_Mutation_p.G1086D	p.G1086D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			22	3619	-			1086					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.3257G>A	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291897	0.40594	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	D;D;T	0.84516	-1.86;-1.67;-1.49	5.92	5.92	0.95590	.	0.085531	0.85682	D	0.000000	T	0.74283	0.3696	N	0.08118	0	0.45852	D	0.998711	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.66724	-0.5851	10	0.23891	T	0.37	-10.5019	20.3081	0.98638	0.0:1.0:0.0:0.0	.	1086;1086;1086	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	D	705;1045;1086;1086;705	ENSP00000382688:G1086D;ENSP00000372265:G1086D;ENSP00000440622:G705D	ENSP00000261253:G705D	G	-	2	0	KDM5A	289351	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.882000	0.69714	2.795000	0.96236	0.655000	0.94253	GGC		0.378	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		5	309	0	0	0	1	0	5	309				
PTGS2	5743	broad.mit.edu	37	1	186645672	186645672	+	Silent	SNP	G	G	A	rs201011990		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:186645672G>A	ENST00000367468.5	-	7	1033	c.897C>T	c.(895-897)tgC>tgT	p.C299C	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	299					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TAAGCACATCGCATACTCTGT	0.463																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(895-897)tgC>tgT		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						154.0	144.0	147.0					1																	186645672		2203	4300	6503	SO:0001819	synonymous_variant	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186645672G>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.897C>T	1.37:g.186645672G>A						PTGS2_ENST00000490885.2_5'UTR	p.C299C	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			7	1033	-			299					A8K802|Q16876	Silent	SNP	ENST00000367468.5	37	c.897C>T	CCDS1371.1																																																																																				0.463	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		59	222	0	0	0	1	0	59	222				
ARAP3	64411	broad.mit.edu	37	5	141051740	141051740	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr5:141051740G>A	ENST00000239440.4	-	10	1579	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V|ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	505	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCACAGTCCGCACACTGCCG	0.612																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1513-1515)gCg>gTg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							137.0	136.0	136.0					5																	141051740		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141051740G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1514C>T	5.37:g.141051740G>A	ENSP00000239440:p.Ala505Val					ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V|ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V	p.A505V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			10	1579	-			505			Arf-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1514C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142199	0.77775	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.51071	0.72;0.72;0.72	3.51	3.51	0.40186	.	0.151693	0.41500	U	0.000870	T	0.63640	0.2528	L	0.59436	1.845	0.51012	D	0.999906	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.941;0.99	T	0.68633	-0.5357	10	0.87932	D	0	.	13.9666	0.64213	0.0:0.0:1.0:0.0	.	167;427;505	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	V	427;505;167	ENSP00000421826:A427V;ENSP00000239440:A505V;ENSP00000421468:A167V	ENSP00000239440:A505V	A	-	2	0	ARAP3	141031924	1.000000	0.71417	0.976000	0.42696	0.538000	0.34931	9.611000	0.98342	1.789000	0.52484	0.563000	0.77884	GCG		0.612	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		7	435	0	0	0	1	0	7	435				
MLLT4	4301	broad.mit.edu	37	6	168315910	168315910	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr6:168315910G>A	ENST00000447894.2	+	18	2341	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T	MLLT4_ENST00000392108.3_Missense_Mutation_p.A781T|MLLT4_ENST00000366806.2_Missense_Mutation_p.A781T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A788T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A765T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A780T|MLLT4_ENST00000344191.4_Missense_Mutation_p.A781T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	781	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGTCAATGCCGCCCTGACCAT	0.537			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2341-2343)Gcc>Acc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							141.0	110.0	121.0					6																	168315910		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168315910G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2341G>A	6.37:g.168315910G>A	ENSP00000404595:p.Ala781Thr					MLLT4_ENST00000392108.3_Missense_Mutation_p.A781T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A765T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A780T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A788T|MLLT4_ENST00000447894.2_Missense_Mutation_p.A781T|MLLT4_ENST00000344191.4_Missense_Mutation_p.A781T	p.A781T			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	18	2483	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	781			Dilute.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.2341G>A		.	.	.	.	.	.	.	.	.	.	G	17.20	3.329136	0.60743	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.05925	3.57;3.48;3.57;3.57;3.37;3.47;3.46	5.79	4.93	0.64822	Dilute (1);	0.132210	0.51477	N	0.000085	T	0.19805	0.0476	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.999;0.994;0.994	T	0.03166	-1.1065	10	0.72032	D	0.01	-11.6067	14.8889	0.70590	0.0685:0.0:0.9314:0.0	.	781;780;781;765	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	T	781;788;781;781;765;781;780;781	ENSP00000341118:A781T;ENSP00000252692:A788T;ENSP00000375956:A781T;ENSP00000355771:A781T;ENSP00000375960:A765T;ENSP00000383623:A780T;ENSP00000404595:A781T	ENSP00000345834:A781T	A	+	1	0	MLLT4	168058759	1.000000	0.71417	0.023000	0.16930	0.017000	0.09413	9.660000	0.98599	1.452000	0.47756	-0.145000	0.13849	GCC		0.537	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		4	175	0	0	0	1	0	4	175				
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	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.S188S(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				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502			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		1	Substitution - coding silent(1)	p.S188S(1)	large_intestine(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.(562-564)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							77.0	84.0	82.0					9																	20414280		2203	4300	6503	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414280G>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.564C>T	9.37:g.20414280G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR	p.S188S	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	850	-			188			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.564C>T	CCDS6494.1																																																																																				0.502	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	284	0	0	0	1	0	5	284				
TUBA3C	7278	broad.mit.edu	37	13	19751462	19751462	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr13:19751462G>T	ENST00000400113.3	-	4	765	c.661C>A	c.(661-663)Cgt>Agt	p.R221S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	221					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TACGTGGGACGCTCGATGTCC	0.562																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(661-663)Cgt>Agt		tubulin, alpha 3c							229.0	191.0	204.0					13																	19751462		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751462G>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.661C>A	13.37:g.19751462G>T	ENSP00000382982:p.Arg221Ser						p.R221S	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	765	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	221					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.661C>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	5.764	0.325301	0.10900	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.68903	-0.36	1.21	0.295	0.15752	.	0.000000	0.45606	U	0.000349	T	0.67924	0.2945	.	.	.	0.40253	D	0.978091	.	.	.	.	.	.	T	0.65919	-0.6051	7	0.87932	D	0	.	5.6914	0.17831	0.2073:0.0:0.7927:0.0	.	.	.	.	S	221	ENSP00000382982:R221S	ENSP00000354037:R221S	R	-	1	0	TUBA3C	18649462	1.000000	0.71417	0.984000	0.44739	0.464000	0.32679	3.327000	0.52045	0.076000	0.16826	0.184000	0.17185	CGT		0.562	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		7	262	1	0	0.0293803	1	0.0297884	7	262				
MUC16	94025	broad.mit.edu	37	19	9049380	9049380	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:9049380T>C	ENST00000397910.4	-	5	32454	c.32251A>G	c.(32251-32253)Act>Gct	p.T10751A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10753	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGGAATAGTCATATTTCTG	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32251-32253)Act>Gct		mucin 16, cell surface associated							159.0	145.0	149.0					19																	9049380		1911	4125	6036	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049380T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32251A>G	19.37:g.9049380T>C	ENSP00000381008:p.Thr10751Ala						p.T10751A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32454	-			10753			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32251A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	6.349	0.432544	0.12045	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	3.0	-6.01	0.02199	.	.	.	.	.	T	0.01627	0.0052	N	0.20986	0.625	.	.	.	B	0.14012	0.009	B	0.11329	0.006	T	0.46911	-0.9157	8	0.87932	D	0	.	6.2381	0.20774	0.0:0.1767:0.152:0.6712	.	10751	B5ME49	.	A	10751	ENSP00000381008:T10751A	ENSP00000381008:T10751A	T	-	1	0	MUC16	8910380	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.492000	0.00973	-1.310000	0.02312	-0.638000	0.03974	ACT		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		125	179	0	0	0	1	0	125	179				
TMEM256-PLSCR3	100529211	broad.mit.edu	37	17	7296183	7296183	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:7296183G>A	ENST00000576362.1	-	5	681	c.524C>T	c.(523-525)gCc>gTc	p.A175V	TMEM256-PLSCR3_ENST00000324822.11_Missense_Mutation_p.A199V|TMEM256-PLSCR3_ENST00000574401.1_Missense_Mutation_p.A199V|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000576201.1_Missense_Mutation_p.A199V|TMEM256-PLSCR3_ENST00000535512.1_Missense_Mutation_p.A199V					TMEM256-PLSCR3 readthrough (NMD candidate)																		CTGGCGATCGGCATCCTGGAT	0.587																																						ENST00000535512.1																			0				endometrium(1)|kidney(2)|urinary_tract(1)	4						c.(595-597)gCc>gTc		phospholipid scramblase 3							214.0	236.0	229.0					17																	7296183		2089	4206	6295	SO:0001583	missense	57048				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding	g.chr17:7296183G>A			17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.524C>T	17.37:g.7296183G>A	ENSP00000460800:p.Ala175Val					PLSCR3_ENST00000324822.11_Missense_Mutation_p.A199V|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000574401.1_Missense_Mutation_p.A199V|PLSCR3_ENST00000576201.1_Missense_Mutation_p.A199V|PLSCR3_ENST00000576362.1_Missense_Mutation_p.A175V	p.A199V			Q9NRY6	PLS3_HUMAN			9	1613	-		Prostate(122;0.173)	199						Missense_Mutation	SNP	ENST00000576362.1	37	c.596C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.793830|4.793830	0.90453|0.90453	.|.	.|.	ENSG00000187838|ENSG00000187838	ENST00000535512;ENST00000324822|ENST00000380658	T;T|.	0.32023|.	1.47;1.47|.	5.69|5.69	4.72|4.72	0.59763|0.59763	.|.	0.193957|.	0.44285|.	N|.	0.000472|.	T|T	0.56688|0.56688	0.2002|0.2002	L|L	0.45422|0.45422	1.42|1.42	0.41806|0.41806	D|D	0.98994|0.98994	P;P|.	0.39094|.	0.659;0.476|.	B;B|.	0.42882|.	0.401;0.223|.	T|T	0.60403|0.60403	-0.7270|-0.7270	10|6	0.34782|0.87932	T|D	0.22|0	-8.8642|-8.8642	7.3178|7.3178	0.26511|0.26511	0.0852:0.0:0.7473:0.1674|0.0852:0.0:0.7473:0.1674	.|.	199;254|.	Q9NRY6;D3DTP7|.	PLS3_HUMAN;.|.	V|S	199|199	ENSP00000438547:A199V;ENSP00000316021:A199V|.	ENSP00000316021:A199V|ENSP00000370033:P199S	A|P	-|-	2|1	0|0	PLSCR3|PLSCR3	7236907|7236907	0.974000|0.974000	0.33945|0.33945	0.842000|0.842000	0.33263|0.33263	0.991000|0.991000	0.79684|0.79684	3.347000|3.347000	0.52200|0.52200	1.405000|1.405000	0.46838|0.46838	0.591000|0.591000	0.81541|0.81541	GCC|CCG		0.587	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440808.1			5	488	0	0	0	1	0	5	488				
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	A	rs121913503		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr15:90631838C>A	ENST00000330062.3	-	4	628	c.515G>T	c.(514-516)aGg>aTg	p.R172M	IDH2_ENST00000539790.1_Missense_Mutation_p.R42M|IDH2_ENST00000540499.2_Missense_Mutation_p.R120M|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aTg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85.0	81.0	82.0					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>A		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>T	15.37:g.90631838C>A	ENSP00000331897:p.Arg172Met					IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120M|IDH2_ENST00000539790.1_Missense_Mutation_p.R42M	p.R172M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>T	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325761	0.41197	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.87029	-2.2;-2.2;-2.2	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95720	0.8608	H	0.98487	4.245	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.95498	0.8575	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	M	172;42;120	ENSP00000331897:R172M;ENSP00000438457:R42M;ENSP00000446147:R120M	ENSP00000331897:R172M	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			49	73	1	0	1.89013e-27	1	2.09059e-27	49	73				
ERMN	57471	broad.mit.edu	37	2	158178296	158178296	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr2:158178296C>G	ENST00000410096.1	-	3	633	c.342G>C	c.(340-342)caG>caC	p.Q114H	ERMN_ENST00000409925.1_3'UTR|ERMN_ENST00000409216.1_3'UTR|ERMN_ENST00000397283.2_Missense_Mutation_p.Q127H|ERMN_ENST00000535935.1_Missense_Mutation_p.Q8H|ERMN_ENST00000420719.2_Missense_Mutation_p.Q94H	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	114					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TCTTCTCCCACTGATGCCCTG	0.413																																						ENST00000410096.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(340-342)caG>caC		ermin, ERM-like protein							42.0	40.0	41.0					2																	158178296		1882	4119	6001	SO:0001583	missense	57471					cytoplasm|cytoskeleton		g.chr2:158178296C>G	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.342G>C	2.37:g.158178296C>G	ENSP00000387047:p.Gln114His					ERMN_ENST00000409216.1_3'UTR|ERMN_ENST00000409925.1_3'UTR|ERMN_ENST00000535935.1_Missense_Mutation_p.Q8H|ERMN_ENST00000420719.2_Missense_Mutation_p.Q94H|ERMN_ENST00000397283.2_Missense_Mutation_p.Q127H	p.Q114H	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN			3	633	-			114					B4DKA6|Q9ULN1	Missense_Mutation	SNP	ENST00000410096.1	37	c.342G>C	CCDS46431.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395733	0.42512	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000535935;ENST00000420719;ENST00000420317;ENST00000411762;ENST00000419116	.	.	.	5.77	0.647	0.17796	.	0.486586	0.19589	N	0.110662	T	0.34366	0.0895	L	0.27053	0.805	0.21897	N	0.999487	D;D;D	0.65815	0.995;0.995;0.995	P;P;P	0.58873	0.847;0.847;0.847	T	0.14337	-1.0476	9	0.56958	D	0.05	-25.1761	5.0372	0.14440	0.1324:0.4741:0.0:0.3934	.	94;127;114	B4DIZ1;Q8TAM6-2;Q8TAM6	.;.;ERMIN_HUMAN	H	114;127;8;94;114;114;111	.	ENSP00000380453:Q127H	Q	-	3	2	ERMN	157886542	0.053000	0.20554	0.898000	0.35279	0.968000	0.65278	-0.308000	0.08156	-0.165000	0.10908	0.561000	0.74099	CAG		0.413	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		21	78	0	0	0	1	0	21	78				
DBR1	51163	broad.mit.edu	37	3	137885942	137885942	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:137885942G>A	ENST00000260803.4	-	5	848	c.695C>T	c.(694-696)gCc>gTc	p.A232V	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	232					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CATCAAGGCGGCAAACTTCAC	0.393																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(694-696)gCc>gTc		debranching RNA lariats 1							85.0	79.0	81.0					3																	137885942		2203	4300	6503	SO:0001583	missense	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137885942G>A	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.695C>T	3.37:g.137885942G>A	ENSP00000260803:p.Ala232Val					DBR1_ENST00000505015.2_5'UTR	p.A232V	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			5	848	-			232					Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	c.695C>T	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079363	0.76528	.	.	ENSG00000138231	ENST00000260803	T	0.42131	0.98	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.53302	0.1788	M	0.77313	2.365	0.80722	D	1	P	0.46512	0.879	P	0.45881	0.496	T	0.59762	-0.7393	10	0.59425	D	0.04	-1.8686	16.8747	0.86048	0.0:0.0:1.0:0.0	.	232	Q9UK59	DBR1_HUMAN	V	232	ENSP00000260803:A232V	ENSP00000260803:A232V	A	-	2	0	DBR1	139368632	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.869000	0.99810	2.578000	0.87016	0.655000	0.94253	GCC		0.393	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			4	148	0	0	0	1	0	4	148				
FAM86C1	55199	broad.mit.edu	37	11	71507263	71507263	+	Intron	SNP	A	A	G	rs374470969		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr11:71507263A>G	ENST00000359244.4	+	4	434				FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1											lung(1)	1						CTGTCCCTACAGGACTCCAGT	0.627																																						ENST00000528685.1																			0				lung(1)	1						c.(358-360)acA>acG		family with sequence similarity 86, member C1							54.0	63.0	60.0					11																	71507263		2200	4293	6493	SO:0001627	intron_variant	55199							g.chr11:71507263A>G	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.411+51A>G	11.37:g.71507263A>G						FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron	p.T120T			Q9NVL1	FA86C_HUMAN			3	360	+			0					Q8N5D3	Silent	SNP	ENST00000359244.4	37	c.360A>G	CCDS41686.1																																																																																				0.627	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		5	237	0	0	0	1	0	5	237				
PCLO	27445	broad.mit.edu	37	7	82784468	82784468	+	Missense_Mutation	SNP	C	C	T	rs201660744	byFrequency	TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:82784468C>T	ENST00000333891.9	-	2	1826	c.1489G>A	c.(1489-1491)Gca>Aca	p.A497T	PCLO_ENST00000423517.2_Missense_Mutation_p.A497T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGGGCTTTGCTGAGCCAGGC	0.612													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		12144	0.0		0.0	False		,,,				2504	0.0					ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1489-1491)Gca>Aca		piccolo presynaptic cytomatrix protein							92.0	100.0	97.0					7																	82784468		1946	4135	6081	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784468C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1489G>A	7.37:g.82784468C>T	ENSP00000334319:p.Ala497Thr					PCLO_ENST00000333891.8_Missense_Mutation_p.A497T	p.A497T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	1826	-			443			10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1489G>A	CCDS47630.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.192|7.192	0.591653|0.591653	0.13812|0.13812	.|.	.|.	ENSG00000186472|ENSG00000186472	ENST00000431819|ENST00000333891;ENST00000423517	.|T;T	.|0.16324	.|2.35;2.36	4.64|4.64	1.63|1.63	0.23807|0.23807	.|.	.|.	.|.	.|.	.|.	.|T	.|0.10121	.|0.0248	N|N	0.16656|0.16656	0.425|0.425	0.22639|0.22639	N|N	0.998905|0.998905	.|B;B	.|0.23806	.|0.091;0.091	.|B;B	.|0.22386	.|0.039;0.039	.|T	.|0.29181	.|-1.0020	.|9	.|0.87932	.|D	.|0	.|.	5.9415|5.9415	0.19196|0.19196	0.2522:0.5969:0.0:0.1508|0.2522:0.5969:0.0:0.1508	.|.	.|497;497	.|Q9Y6V0-5;Q9Y6V0-6	.|.;.	.|T	-1|497	.|ENSP00000334319:A497T;ENSP00000388393:A497T	.|ENSP00000334319:A497T	.|A	-|-	.|1	.|0	PCLO|PCLO	82622404|82622404	0.000000|0.000000	0.05858|0.05858	0.028000|0.028000	0.17463|0.17463	0.096000|0.096000	0.18686|0.18686	-0.716000|-0.716000	0.04991|0.04991	0.508000|0.508000	0.28173|0.28173	-0.224000|-0.224000	0.12420|0.12420	.|GCA		0.612	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	544	0	0	0	1	0	7	544				
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622																																						ENST00000327064.4																			2	Substitution - Missense(2)	p.A202V(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(604-606)gCc>gTc		coactivator-associated arginine methyltransferase 1							319.0	260.0	280.0					19																	11022906		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022906C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.605C>T	19.37:g.11022906C>T	ENSP00000325690:p.Ala202Val					CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			5	795	+			202					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.605C>T	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061915	0.93846	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.28666	1.6;1.6	5.67	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	H	0.96142	3.775	0.80722	D	1	D	0.57571	0.98	P	0.53809	0.735	T	0.76482	-0.2943	10	0.87932	D	0	-2.6238	14.9481	0.71047	0.1444:0.8556:0.0:0.0	.	202	Q86X55	CARM1_HUMAN	V	202	ENSP00000325690:A202V;ENSP00000340934:A202V	ENSP00000325690:A202V	A	+	2	0	CARM1	10883906	1.000000	0.71417	0.005000	0.12908	0.991000	0.79684	7.335000	0.79234	1.386000	0.46466	0.655000	0.94253	GCC		0.622	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		5	508	0	0	0	1	0	5	508				
ATP13A5	344905	broad.mit.edu	37	3	193036786	193036786	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:193036786A>C	ENST00000342358.4	-	17	2144	c.2027T>G	c.(2026-2028)tTa>tGa	p.L676*		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	676						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTACCTGGCTAAGTGCTCGAC	0.483																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2026-2028)tTa>tGa		ATPase type 13A5							105.0	106.0	106.0					3																	193036786		2203	4300	6503	SO:0001587	stop_gained	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193036786A>C	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2027T>G	3.37:g.193036786A>C	ENSP00000341942:p.Leu676*						p.L676*	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	17	2144	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		676					Q6UWS4|Q6ZWL0	Nonsense_Mutation	SNP	ENST00000342358.4	37	c.2027T>G	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.905867	0.92107	.	.	ENSG00000187527	ENST00000342358	.	.	.	5.89	4.62	0.57501	.	0.703659	0.12887	N	0.430941	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4031	9.7238	0.40320	0.8349:0.0:0.0:0.1651	.	.	.	.	X	676	.	ENSP00000341942:L676X	L	-	2	0	ATP13A5	194519480	0.039000	0.19947	0.011000	0.14972	0.012000	0.07955	3.393000	0.52544	2.251000	0.74343	0.533000	0.62120	TTA		0.483	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		112	151	0	0	0	1	0	112	151				
SPACA4	171169	broad.mit.edu	37	19	49110580	49110580	+	Silent	SNP	G	G	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:49110580G>T	ENST00000321762.1	+	1	581	c.345G>T	c.(343-345)ctG>ctT	p.L115L	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	115					cell adhesion (GO:0007155)	anchored component of membrane (GO:0031225)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CACTGGGGCTGGGTATGCTGC	0.642																																						ENST00000321762.1																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5						c.(343-345)ctG>ctT		sperm acrosome associated 4							15.0	13.0	14.0					19																	49110580		2200	4297	6497	SO:0001819	synonymous_variant	171169				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane		g.chr19:49110580G>T		CCDS12725.1	19q13.33	2013-10-24			ENSG00000177202	ENSG00000177202			16441	protein-coding gene	gene with protein product		609932					Standard	NM_133498		Approved	SAMP14	uc002pjo.3	Q8TDM5	OTTHUMG00000183316	ENST00000321762.1:c.345G>T	19.37:g.49110580G>T						FAM83E_ENST00000263266.3_Intron	p.L115L	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	1	581	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	115						Silent	SNP	ENST00000321762.1	37	c.345G>T	CCDS12725.1																																																																																				0.642	SPACA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466149.1	NM_133498		3	18	1	0	6.4e-05	1	6.67429e-05	3	18				
ZSCAN5A	79149	broad.mit.edu	37	19	56733663	56733663	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:56733663G>C	ENST00000587340.1	-	7	1467	c.772C>G	c.(772-774)Ccc>Gcc	p.P258A	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.P141A|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.P258A|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.P112A|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.P257A			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	258					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATTTTTGGGGGGTCCTTCCCC	0.502																																						ENST00000587340.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(772-774)Ccc>Gcc		zinc finger and SCAN domain containing 5A							83.0	85.0	84.0					19																	56733663		2203	4300	6503	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56733663G>C	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.772C>G	19.37:g.56733663G>C	ENSP00000467631:p.Pro258Ala					ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.P258A|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.P257A|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.P112A|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.P141A	p.P258A			Q9BUG6	ZSA5A_HUMAN			7	1467	-			258					B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.772C>G	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	G	3.549	-0.091980	0.07053	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06933	3.31;3.24	1.94	1.94	0.25998	.	.	.	.	.	T	0.10078	0.0247	M	0.73598	2.24	0.09310	N	1	B;B	0.31077	0.307;0.199	B;B	0.27380	0.079;0.079	T	0.23261	-1.0193	9	0.59425	D	0.04	.	4.4486	0.11609	0.195:0.0:0.805:0.0	.	141;258	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	A	258;141	ENSP00000375593:P258A;ENSP00000254165:P141A	ENSP00000254165:P141A	P	-	1	0	ZSCAN5A	61425475	0.002000	0.14202	0.004000	0.12327	0.007000	0.05969	1.048000	0.30379	1.395000	0.46643	0.561000	0.74099	CCC		0.502	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		61	158	0	0	0	1	0	61	158				
NUAK1	9891	broad.mit.edu	37	12	106480621	106480621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr12:106480621G>A	ENST00000261402.2	-	3	1783	c.404C>T	c.(403-405)gCc>gTc	p.A135V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CCCTTTGCTGGCATATTCCAT	0.493																																						ENST00000261402.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(403-405)gCc>gTc		NUAK family, SNF1-like kinase, 1							162.0	136.0	145.0					12																	106480621		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106480621G>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.404C>T	12.37:g.106480621G>A	ENSP00000261402:p.Ala135Val						p.A135V	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			3	1783	-			135			Protein kinase.		A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.404C>T	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580459	0.86645	.	.	ENSG00000074590	ENST00000261402;ENST00000359413;ENST00000548902	T;T	0.22945	1.93;1.93	5.92	5.92	0.95590	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000018	T	0.35480	0.0933	N	0.12502	0.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.19128	-1.0315	10	0.28530	T	0.3	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	135	O60285	NUAK1_HUMAN	V	135;135;4	ENSP00000261402:A135V;ENSP00000448288:A4V	ENSP00000261402:A135V	A	-	2	0	NUAK1	105004751	1.000000	0.71417	0.939000	0.37840	0.660000	0.38997	9.476000	0.97823	2.804000	0.96469	0.655000	0.94253	GCC		0.493	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		5	277	0	0	0	1	0	5	277				
SMURF1	57154	broad.mit.edu	37	7	98655082	98655082	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:98655082C>T	ENST00000361125.1	-	4	615	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	SMURF1_ENST00000361368.2_Missense_Mutation_p.R99Q|SMURF1_ENST00000480055.1_5'UTR	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	99	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GGAGAGCAGCCGCACACAGCC	0.458																																						ENST00000361125.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25						c.(295-297)cGg>cAg		SMAD specific E3 ubiquitin protein ligase 1							118.0	126.0	123.0					7																	98655082		2203	4300	6503	SO:0001583	missense	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98655082C>T	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.296G>A	7.37:g.98655082C>T	ENSP00000354621:p.Arg99Gln					SMURF1_ENST00000361368.2_Missense_Mutation_p.R99Q|SMURF1_ENST00000480055.1_5'UTR	p.R99Q	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		4	615	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		99			C2.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	c.296G>A	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487717	0.96323	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.67345	-0.26;-0.26	6.02	6.02	0.97574	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.052345	0.85682	D	0.000000	T	0.80325	0.4602	M	0.86953	2.85	0.80722	D	1	D;D;D	0.61697	0.987;0.99;0.982	B;P;P	0.51866	0.399;0.682;0.503	T	0.80372	-0.1410	10	0.40728	T	0.16	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	99;99;99	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	Q	99	ENSP00000355326:R99Q;ENSP00000354621:R99Q	ENSP00000354621:R99Q	R	-	2	0	SMURF1	98493018	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	CGG		0.458	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		8	252	0	0	0	1	0	8	252				
PTPRC	5788	broad.mit.edu	37	1	198703524	198703524	+	Silent	SNP	C	C	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:198703524C>A	ENST00000367376.2	+	22	2412	c.2241C>A	c.(2239-2241)gtC>gtA	p.V747V	PTPRC_ENST00000352140.3_Silent_p.V699V|PTPRC_ENST00000348564.6_Silent_p.V588V|PTPRC_ENST00000442510.2_Silent_p.V749V|PTPRC_ENST00000594404.1_Silent_p.V586V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	747	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CAGTTATTGTCATGGTCACTC	0.408																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(2239-2241)gtC>gtA		protein tyrosine phosphatase, receptor type, C							272.0	281.0	278.0					1																	198703524		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198703524C>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2241C>A	1.37:g.198703524C>A						PTPRC_ENST00000352140.3_Silent_p.V699V|PTPRC_ENST00000594404.1_Silent_p.V586V|PTPRC_ENST00000442510.2_Silent_p.V749V|PTPRC_ENST00000348564.6_Silent_p.V588V	p.V747V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			22	2412	+			747			Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.2241C>A																																																																																					0.408	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				15	641	1	0	1.3612e-06	1	1.4831e-06	15	641				
PRSS8	5652	broad.mit.edu	37	16	31143813	31143813	+	Silent	SNP	C	C	T	rs536976001		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr16:31143813C>T	ENST00000317508.6	-	5	905	c.642G>A	c.(640-642)ccG>ccA	p.P214P	PRSS8_ENST00000568261.1_Silent_p.P160P|RP11-388M20.2_ENST00000563605.1_RNA	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	214	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						GGACAAAGTGCGGCTCCTCAG	0.612																																						ENST00000317508.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(640-642)ccG>ccA		protease, serine, 8							97.0	103.0	101.0					16																	31143813		2108	4225	6333	SO:0001819	synonymous_variant	5652				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr16:31143813C>T	U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"""Serine peptidases / Serine peptidases"""	9491	protein-coding gene	gene with protein product	"""prostasin"""	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.642G>A	16.37:g.31143813C>T						PRSS8_ENST00000568261.1_Silent_p.P160P	p.P214P	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN			5	905	-			214			Peptidase S1.		B4DWP2|Q9UCA3	Silent	SNP	ENST00000317508.6	37	c.642G>A	CCDS45469.1																																																																																				0.612	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433536.1	NM_002773		4	176	0	0	0	1	0	4	176				
CCDC132	55610	broad.mit.edu	37	7	92887696	92887696	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:92887696A>G	ENST00000305866.5	+	8	696	c.568A>G	c.(568-570)Atg>Gtg	p.M190V	CCDC132_ENST00000251739.5_Missense_Mutation_p.M190V|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_Start_Codon_SNP_p.M1V|CCDC132_ENST00000544910.1_Missense_Mutation_p.M160V|CCDC132_ENST00000317751.6_5'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	190						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTAAGTGAAATGCTGGAGGT	0.313																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(478-480)Atg>Gtg		coiled-coil domain containing 132							119.0	123.0	121.0					7																	92887696		2203	4300	6503	SO:0001583	missense	55610							g.chr7:92887696A>G	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.568A>G	7.37:g.92887696A>G	ENSP00000307666:p.Met190Val					CCDC132_ENST00000541136.1_Start_Codon_SNP_p.M1V|CCDC132_ENST00000305866.5_Missense_Mutation_p.M190V|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.M190V|CCDC132_ENST00000535481.1_Intron	p.M160V	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		9	698	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		190					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.478A>G	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928968	0.52759	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000541136;ENST00000458530	.	.	.	5.5	4.32	0.51571	Vacuolar protein sorting-associated protein 54 (1);	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	L	0.36672	1.1	0.80722	D	1	B;B;B	0.22080	0.001;0.001;0.064	B;B;B	0.23852	0.006;0.011;0.049	T	0.39057	-0.9632	9	0.42905	T	0.14	-5.6096	11.9448	0.52922	0.8696:0.0:0.0:0.1304	.	160;190;190	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	V	190;190;160;1;189	.	ENSP00000251739:M190V	M	+	1	0	CCDC132	92725632	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.463000	0.80869	0.992000	0.38840	0.477000	0.44152	ATG		0.313	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		50	286	0	0	0	1	0	50	286				
MOGAT3	346606	broad.mit.edu	37	7	100839296	100839296	+	Silent	SNP	C	C	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:100839296C>A	ENST00000223114.4	-	7	1123	c.957G>T	c.(955-957)ctG>ctT	p.L319L	MOGAT3_ENST00000379423.3_Nonsense_Mutation_p.G252*|MOGAT3_ENST00000440203.2_3'UTR	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	319					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AGAGCTGCTCCAGGGCCGTCA	0.657																																						ENST00000379423.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(754-756)Gga>Tga		monoacylglycerol O-acyltransferase 3							66.0	63.0	64.0					7																	100839296		2203	4300	6503	SO:0001819	synonymous_variant	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100839296C>A	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.957G>T	7.37:g.100839296C>A						MOGAT3_ENST00000440203.2_3'UTR|MOGAT3_ENST00000223114.4_Silent_p.L319L	p.G252*			Q86VF5	MOGT3_HUMAN			6	814	-	Lung NSC(181;0.168)|all_lung(186;0.215)		0					Q496A6|Q496A7|Q496A8|Q9UDW7	Nonsense_Mutation	SNP	ENST00000223114.4	37	c.754G>T	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	C	9.780	1.175137	0.21704	.	.	ENSG00000106384	ENST00000379423	.	.	.	4.85	1.55	0.23275	.	.	.	.	.	.	.	.	.	.	.	0.27320	N	0.957054	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.5375	0.04717	0.2296:0.4904:0.0:0.28	.	.	.	.	X	252	.	ENSP00000368734:G252X	G	-	1	0	MOGAT3	100626016	0.008000	0.16893	0.031000	0.17742	0.008000	0.06430	0.349000	0.20055	0.478000	0.27488	-0.127000	0.14921	GGA		0.657	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		4	138	1	0	2.56e-06	1	2.74824e-06	4	138				
ATP2B2	491	broad.mit.edu	37	3	10379897	10379897	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:10379897A>C	ENST00000352432.4	-	21	3452	c.3383T>G	c.(3382-3384)aTc>aGc	p.I1128S	ATP2B2_ENST00000360273.2_Missense_Mutation_p.I1128S|ATP2B2_ENST00000343816.4_Missense_Mutation_p.I1114S|ATP2B2_ENST00000397077.1_Missense_Mutation_p.I1083S|ATP2B2_ENST00000383800.4_Missense_Mutation_p.I1083S|ATP2B2_ENST00000467702.2_5'Flank			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1128	Calmodulin-binding subdomain A. {ECO:0000250}.				auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GAACCACAGGATCTGGCCCCG	0.682																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(3247-3249)aTc>aGc		ATPase, Ca++ transporting, plasma membrane 2							57.0	59.0	58.0					3																	10379897		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10379897A>C	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.3383T>G	3.37:g.10379897A>C	ENSP00000324172:p.Ile1128Ser					ATP2B2_ENST00000383800.4_Missense_Mutation_p.I1083S|ATP2B2_ENST00000352432.4_Missense_Mutation_p.I1128S|ATP2B2_ENST00000343816.4_Missense_Mutation_p.I1114S|ATP2B2_ENST00000360273.2_Missense_Mutation_p.I1128S	p.I1083S			Q01814	AT2B2_HUMAN			21	3823	-			1128					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.3248T>G	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847484	0.71603	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	4.62	3.41	0.39046	.	0.000000	0.85682	D	0.000000	D	0.86606	0.5973	M	0.71036	2.16	0.80722	D	1	D;P;P	0.58970	0.984;0.566;0.784	D;B;P	0.69479	0.964;0.378;0.817	D	0.84685	0.0719	10	0.45353	T	0.12	-26.6336	10.2226	0.43205	0.8511:0.0:0.0:0.1489	.	1063;1095;1128	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	S	1128;1083;1083;1128;1114;1063;317;984;1128	ENSP00000324172:I1128S;ENSP00000373311:I1083S;ENSP00000380267:I1083S;ENSP00000353414:I1128S;ENSP00000344677:I1114S;ENSP00000414854:I984S	ENSP00000342954:I1128S	I	-	2	0	ATP2B2	10354897	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.477000	0.81069	0.588000	0.29660	0.459000	0.35465	ATC		0.682	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		6	100	0	0	0	1	0	6	100				
ZNF8	7554	broad.mit.edu	37	19	58805612	58805612	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:58805612G>C	ENST00000196548.5	+	4	569	c.438G>C	c.(436-438)caG>caC	p.Q146H	AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Missense_Mutation_p.Q146H			P17098	ZNF8_HUMAN	zinc finger protein 8	146					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GTCAGAGCCAGAGTCTGGCAC	0.517																																						ENST00000196548.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19						c.(436-438)caG>caC		zinc finger protein 8							58.0	47.0	51.0					19																	58805612		2203	4300	6503	SO:0001583	missense	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58805612G>C	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.438G>C	19.37:g.58805612G>C	ENSP00000196548:p.Gln146His					AC010642.1_ENST00000591325.1_3'UTR	p.Q146H	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	4	569	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	146					Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	c.438G>C	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206097	0.39003	.	.	ENSG00000083842	ENST00000196548	T	0.06768	3.26	5.02	0.518	0.17030	.	0.516702	0.16706	N	0.202916	T	0.05364	0.0142	L	0.29908	0.895	0.09310	N	1	B	0.15719	0.014	B	0.12156	0.007	T	0.33420	-0.9869	10	0.72032	D	0.01	-5.6247	2.854	0.05566	0.1702:0.1449:0.5361:0.1488	.	146	P17098	ZNF8_HUMAN	H	146	ENSP00000196548:Q146H	ENSP00000196548:Q146H	Q	+	3	2	ZNF8	63497424	0.001000	0.12720	0.059000	0.19551	0.013000	0.08279	0.723000	0.25939	0.362000	0.24319	0.650000	0.86243	CAG		0.517	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		6	34	0	0	0	1	0	6	34				
ERCC8	1161	broad.mit.edu	37	5	60170485	60170485	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr5:60170485G>A	ENST00000265038.5	-	12	1190	c.1148C>T	c.(1147-1149)cCg>cTg	p.P383L	ERCC8_ENST00000543101.1_Missense_Mutation_p.P230L|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000426742.2_Missense_Mutation_p.P325L	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	383					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TTCAAAGGCCGGATTTAATTG	0.313																																						ENST00000426742.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(973-975)cCg>cTg		excision repair cross-complementing rodent repair deficiency, complementation group 8							58.0	55.0	56.0					5																	60170485		2203	4300	6503	SO:0001583	missense	1161				positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding	g.chr5:60170485G>A	U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.1148C>T	5.37:g.60170485G>A	ENSP00000265038:p.Pro383Leu					ERCC8_ENST00000543101.1_Missense_Mutation_p.P230L|ERCC8_ENST00000265038.5_Missense_Mutation_p.P383L|ERCC8_ENST00000462279.1_5'UTR	p.P325L			Q13216	ERCC8_HUMAN			13	1408	-		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)	383					B2RB64|Q6FHX5|Q96GB9	Missense_Mutation	SNP	ENST00000265038.5	37	c.974C>T	CCDS3978.1	.	.	.	.	.	.	.	.	.	.	G	6.696	0.497057	0.12762	.	.	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000543101;ENST00000536596	T;T;T	0.71222	-0.55;-0.29;-0.11	5.64	3.84	0.44239	.	0.317287	0.33691	N	0.004650	T	0.67230	0.2871	L	0.34521	1.04	0.80722	D	1	D;P	0.71674	0.998;0.749	P;B	0.54372	0.75;0.055	T	0.65553	-0.6140	10	0.45353	T	0.12	-14.5518	8.369	0.32404	0.078:0.0:0.7689:0.1531	.	230;383	B4DGZ9;Q13216	.;ERCC8_HUMAN	L	325;383;230;382	ENSP00000400110:P325L;ENSP00000265038:P383L;ENSP00000441732:P230L	ENSP00000265038:P383L	P	-	2	0	ERCC8	60206242	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.243000	0.43115	0.914000	0.36822	-0.133000	0.14855	CCG		0.313	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214971.2	NM_000082		42	56	0	0	0	1	0	42	56				
LRRC37A	9884	broad.mit.edu	37	17	44408247	44408247	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:44408247G>A	ENST00000320254.5	+	9	3607	c.3604G>A	c.(3604-3606)Gaa>Aaa	p.E1202K	ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000575698.1_Intron|LRRC37A_ENST00000496930.1_Missense_Mutation_p.E240K|LRRC37A_ENST00000393465.3_Missense_Mutation_p.E1202K|ARL17B_ENST00000570618.1_Intron|ARL17B_ENST00000575960.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1202						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GAACGCTGCCGAAGAAAAAAG	0.587																																						ENST00000320254.5																			0				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11						c.(3604-3606)Gaa>Aaa		leucine rich repeat containing 37A							44.0	34.0	39.0					17																	44408247		1711	1902	3613	SO:0001583	missense	9884					integral to membrane		g.chr17:44408247G>A	BC040501	CCDS11504.2	17q21.31	2014-04-01			ENSG00000176681	ENSG00000176681			29069	protein-coding gene	gene with protein product						9628581, 15533724	Standard	NM_014834		Approved	KIAA0563	uc031rbr.1	A6NMS7	OTTHUMG00000149841	ENST00000320254.5:c.3604G>A	17.37:g.44408247G>A	ENSP00000326324:p.Glu1202Lys					LRRC37A_ENST00000393465.3_Missense_Mutation_p.E1202K|ARL17B_ENST00000575960.1_Intron|ARL17B_ENST00000570618.1_Intron|ARL17B_ENST00000434041.2_Intron|LRRC37A_ENST00000496930.1_Missense_Mutation_p.E240K|ARL17B_ENST00000575698.1_Intron	p.E1202K	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	9	3607	+		Melanoma(429;0.211)	1202					Q68DY2|Q8IWC7	Missense_Mutation	SNP	ENST00000320254.5	37	c.3604G>A	CCDS11504.2	.	.	.	.	.	.	.	.	.	.	g	0.009	-1.813020	0.00600	.	.	ENSG00000176681	ENST00000496930;ENST00000393466;ENST00000393465;ENST00000320254	T;T;T	0.58060	1.61;0.36;0.36	2.15	-3.74	0.04385	.	.	.	.	.	T	0.12135	0.0295	N	0.00446	-1.495	0.09310	N	1	B;B;B	0.12013	0.004;0.003;0.005	B;B;B	0.06405	0.001;0.001;0.002	T	0.23440	-1.0188	9	0.02654	T	1	.	4.194	0.10435	0.3527:0.2122:0.4351:0.0	.	240;322;1202	E9PP10;Q5YKG5;A6NMS7	.;.;L37A1_HUMAN	K	240;1202;1202;1202	ENSP00000437021:E240K;ENSP00000377108:E1202K;ENSP00000326324:E1202K	ENSP00000326324:E1202K	E	+	1	0	LRRC37A	41764008	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.800000	0.04555	-1.007000	0.03408	-1.972000	0.00464	GAA		0.587	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313519.3	NM_014834		80	16	0	0	0	1	0	80	16				
GLI3	2737	broad.mit.edu	37	7	42079655	42079655	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:42079655A>T	ENST00000395925.3	-	7	1094	c.1010T>A	c.(1009-1011)tTa>tAa	p.L337*	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	337					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACTTGCAGATAAGTGACCATA	0.413									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(1009-1011)tTa>tAa		GLI family zinc finger 3							132.0	120.0	124.0					7																	42079655		2203	4300	6503	SO:0001587	stop_gained	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42079655A>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1010T>A	7.37:g.42079655A>T	ENSP00000379258:p.Leu337*					GLI3_ENST00000479210.1_5'UTR	p.L337*	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			7	1094	-			337					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Nonsense_Mutation	SNP	ENST00000395925.3	37	c.1010T>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	A	39	7.360792	0.98235	.	.	ENSG00000106571	ENST00000395925	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8225	0.78667	1.0:0.0:0.0:0.0	.	.	.	.	X	337	.	ENSP00000379258:L337X	L	-	2	0	GLI3	42046180	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.328000	0.96403	2.138000	0.66242	0.533000	0.62120	TTA		0.413	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		55	128	0	0	0	1	0	55	128				
RGS4	5999	broad.mit.edu	37	1	163044190	163044192	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:163044190_163044192delAGA	ENST00000367909.6	+	5	798_800	c.458_460delAGA	c.(457-462)cagaag>cag	p.K155del	RGS4_ENST00000527809.1_In_Frame_Del_p.K137del|RGS4_ENST00000421743.2_In_Frame_Del_p.K252del|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367906.3_In_Frame_Del_p.K137del	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	155	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						GATGAGGCCCAGAAGAAGATTTT	0.512																																					Ovarian(76;1257 1738 3039 6086)	ENST00000421743.2																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(748-753)cag>c		regulator of G-protein signaling 4																																				SO:0001651	inframe_deletion	5999				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:163044190_163044192delAGA	BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.458_460delAGA	1.37:g.163044196_163044198delAGA	ENSP00000356885:p.Lys155del					RGS4_ENST00000527809.1_In_Frame_Del_p.QK135del|RGS4_ENST00000367909.6_In_Frame_Del_p.QK153del|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367906.3_In_Frame_Del_p.QK135del	p.QK250del	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN			6	909_911	+			153					A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	In_Frame_Del	DEL	ENST00000367909.6	37	c.749_751delAGA	CCDS1243.1																																																																																				0.512	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2	NM_005613		271	482						271	482	---	---	---	---
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC										Q86VA8	Q86VA8_HUMAN			0	245_247	+								A8MY98	RNA	DEL	ENST00000432424.2	37																																																																																						0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		4	8						4	8	---	---	---	---
TRIM23	373	broad.mit.edu	37	5	64910016	64910016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr5:64910016delT	ENST00000231524.9	-	3	646	c.275delA	c.(274-276)aatfs	p.N92fs	TRIM23_ENST00000274327.7_Frame_Shift_Del_p.N92fs|TRIM23_ENST00000381018.3_Frame_Shift_Del_p.N92fs	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	92					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N92I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TAAAGCAAAATTTTTTTTCAA	0.358																																						ENST00000231524.9																			1	Substitution - Missense(1)	p.N92I(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(274-276)atfs		tripartite motif containing 23							99.0	105.0	103.0					5																	64910016		2203	4300	6503	SO:0001589	frameshift_variant	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64910016delT	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.275delA	5.37:g.64910016delT	ENSP00000231524:p.Asn92fs					TRIM23_ENST00000274327.7_Frame_Shift_Del_p.N92fs|TRIM23_ENST00000381018.3_Frame_Shift_Del_p.N92fs	p.N92fs	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN		Lung(70;0.00473)	3	646	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	92					Q9BZY4|Q9BZY5	Frame_Shift_Del	DEL	ENST00000231524.9	37	c.275delA	CCDS3987.1																																																																																				0.358	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		7	296						7	296	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.T152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(454-459)agc>a		T-cell immunoglobulin and mucin domain containing 4																																				SO:0001651	inframe_deletion	91937					integral to membrane		g.chr5:156378745_156378747delTTG	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.455_457delCAA	5.37:g.156378754_156378756delTTG	ENSP00000274532:p.Thr152del					TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	511_513	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	152			Thr-rich.		B5MCL9	In_Frame_Del	DEL	ENST00000274532.2	37	c.455_457delCAA	CCDS4332.1																																																																																				0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		12	739						12	739	---	---	---	---
KIAA1586	57691	broad.mit.edu	37	6	56919323	56919325	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr6:56919323_56919325delAAT	ENST00000370733.4	+	4	2233_2235	c.2026_2028delAAT	c.(2026-2028)aatdel	p.N678del	KIAA1586_ENST00000545356.1_In_Frame_Del_p.N651del	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	678							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGAATTTGTAAATAATAATATAA	0.276																																						ENST00000370733.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18						c.(2026-2028)del		KIAA1586																																				SO:0001651	inframe_deletion	57691						nucleic acid binding	g.chr6:56919323_56919325delAAT	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.2026_2028delAAT	6.37:g.56919329_56919331delAAT	ENSP00000359768:p.Asn678del					KIAA1586_ENST00000545356.1_In_Frame_Del_p.N651del	p.N678del	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		4	2233_2235	+	Lung NSC(77;0.0969)		678					A8K4M3|Q8IW25	In_Frame_Del	DEL	ENST00000370733.4	37	c.2026_2028delAAT	CCDS34480.1																																																																																				0.276	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		19	59						19	59	---	---	---	---
WDR60	55112	broad.mit.edu	37	7	158669356	158669359	+	Frame_Shift_Del	DEL	AGAG	AGAG	-	rs201989761		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:158669356_158669359delAGAG	ENST00000407559.3	+	4	705_708	c.547_550delAGAG	c.(547-552)agagaafs	p.RE183fs		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	183					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AGATGAAGATAGAGAAAGAAGATA	0.348																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(547-552)aafs		WD repeat domain 60																																				SO:0001589	frameshift_variant	55112							g.chr7:158669356_158669359delAGAG		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.547_550delAGAG	7.37:g.158669356_158669359delAGAG	ENSP00000384290:p.Arg183fs						p.RE183fs	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	4	705_708	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	183					Q9NW58	Frame_Shift_Del	DEL	ENST00000407559.3	37	c.547_550delAGAG	CCDS47757.1																																																																																				0.348	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		7	13						7	13	---	---	---	---
PSIP1	11168	broad.mit.edu	37	9	15469946	15469948	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr9:15469946_15469948delCTC	ENST00000380733.4	-	11	1364_1366	c.1021_1023delGAG	c.(1021-1023)gagdel	p.E341del	PSIP1_ENST00000380738.4_In_Frame_Del_p.E341del			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	341					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CTCGCTTCTTCTCCACTTTCTTA	0.296																																						ENST00000380733.4																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9						c.(1021-1023)del		PC4 and SFRS1 interacting protein 1																																				SO:0001651	inframe_deletion	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15469946_15469948delCTC	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1021_1023delGAG	9.37:g.15469946_15469948delCTC	ENSP00000370109:p.Glu341del					PSIP1_ENST00000380738.4_In_Frame_Del_p.E341del	p.E341del			O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	11	1364_1366	-			341					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	In_Frame_Del	DEL	ENST00000380733.4	37	c.1021_1023delGAG	CCDS6479.1																																																																																				0.296	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		35	85						35	85	---	---	---	---
KIF24	347240	broad.mit.edu	37	9	34311231	34311233	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr9:34311231_34311233delCTT	ENST00000402558.2	-	1	136_138	c.112_114delAAG	c.(112-114)aagdel	p.K38del	KIF24_ENST00000379166.2_In_Frame_Del_p.K38del|KIF24_ENST00000379174.3_In_Frame_Del_p.K38del|KIF24_ENST00000345050.2_In_Frame_Del_p.K38del			Q5T7B8	KIF24_HUMAN	kinesin family member 24	38	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TGGAGTAGTCCTTCATTGTAATC	0.365																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(112-114)del		kinesin family member 24																																				SO:0001651	inframe_deletion	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34311231_34311233delCTT	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.112_114delAAG	9.37:g.34311231_34311233delCTT	ENSP00000384433:p.Lys38del					KIF24_ENST00000402558.2_In_Frame_Del_p.K38del|KIF24_ENST00000345050.2_In_Frame_Del_p.K38del|KIF24_ENST00000379174.3_In_Frame_Del_p.K38del	p.K38del	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		2	231_233	-			38			SAM.		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	In_Frame_Del	DEL	ENST00000402558.2	37	c.112_114delAAG	CCDS6551.2																																																																																				0.365	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			11	41						11	41	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(214-216)gtfs		transmembrane 9 superfamily member 3							146.0	145.0	145.0					10																	98336475		2203	4300	6503	SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98336475delT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.214delA	10.37:g.98336475delT	ENSP00000360184:p.Ser72fs						p.S72fs	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	430	-		Colorectal(252;0.158)	72					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Del	DEL	ENST00000371142.4	37	c.214delA	CCDS7450.1																																																																																				0.363	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		7	288						7	288	---	---	---	---
UGGT2	55757	broad.mit.edu	37	13	96665687	96665690	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr13:96665687_96665690delTTTG	ENST00000376747.3	-	5	601_604	c.531_534delCAAA	c.(529-534)aacaaafs	p.NK177fs	UGGT2_ENST00000376712.4_Frame_Shift_Del_p.NK177fs|UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000397618.3_Frame_Shift_Del_p.NK177fs|UGGT2_ENST00000376714.3_Frame_Shift_Del_p.NK177fs	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	177					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTAAGTTCTCTTTGTTTGTAGGAA	0.328																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(529-534)aafs		UDP-glucose glycoprotein glucosyltransferase 2				2,4260		1,0,2130						5.5	1.0			92	1,8253		0,1,4126	no	frameshift	UGGT2	NM_020121.3		1,1,6256	A1A1,A1R,RR		0.0121,0.0469,0.024				3,12513				SO:0001589	frameshift_variant	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96665687_96665690delTTTG	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.531_534delCAAA	13.37:g.96665691_96665694delTTTG	ENSP00000365938:p.Asn177fs					UGGT2_ENST00000376714.3_Frame_Shift_Del_p.NK177fs|UGGT2_ENST00000376712.4_Frame_Shift_Del_p.NK177fs|UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000397618.3_Frame_Shift_Del_p.NK177fs	p.NK177fs	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			5	601_604	-			177					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Frame_Shift_Del	DEL	ENST00000376747.3	37	c.531_534delCAAA	CCDS9480.1																																																																																				0.328	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		52	64						52	64	---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-	rs150988201		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1195-1197)afs		RNA binding motif protein 25																																				SO:0001589	frameshift_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73572607_73572608delAG	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1195_1196delAG	14.37:g.73572617_73572618delAG	ENSP00000261973:p.Arg399fs					RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	11	1480_1481	+			399			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Frame_Shift_Del	DEL	ENST00000261973.7	37	c.1195_1196delAG	CCDS32113.1																																																																																				0.446	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		9	84						9	84	---	---	---	---
LOC645752	645752	broad.mit.edu	37	15	78215586	78215587	+	lincRNA	INS	-	-	T	rs371932549	byFrequency	TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr15:78215586_78215587insT	ENST00000565869.1	+	0	706				RP11-114H24.2_ENST00000567226.1_RNA																							AAAATGAGAAATTTAAAAAAAA	0.441													tt|TTT|TTTT|cryptic_indel	51	0.0101837	0.0333	0.0029	5008	,	,		18873	0.001		0.001	False		,,,				2504	0.0031					ENST00000567226.1																			0																																																			0							g.chr15:78215586_78215587insT																													15.37:g.78215589_78215589dupT														0	225	-									RNA	INS	ENST00000565869.1	37																																																																																						0.441	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	3						4	3	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	9						4	9	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18823290	18823293	+	Frame_Shift_Del	DEL	CTGA	CTGA	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr16:18823290_18823293delCTGA	ENST00000446231.2	-	61	11190_11193	c.10778_10781delTCAG	c.(10777-10782)gtcagafs	p.VR3593fs	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Frame_Shift_Del_p.VR3594fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3593					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTAGGGTCTCTGACTGCCTTTTT	0.377																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(10777-10782)gafs		SMG1 phosphatidylinositol 3-kinase-related kinase																																				SO:0001589	frameshift_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18823290_18823293delCTGA	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10778_10781delTCAG	16.37:g.18823290_18823293delCTGA	ENSP00000402515:p.Val3593fs					RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Frame_Shift_Del_p.VR3594fs	p.VR3593fs			Q96Q15	SMG1_HUMAN			61	11190_11193	-			3593					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Frame_Shift_Del	DEL	ENST00000446231.2	37	c.10778_10781delTCAG	CCDS45430.1																																																																																				0.377	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		67	134						67	134	---	---	---	---
RP11-439I14.2	0	broad.mit.edu	37	16	64770704	64770705	+	lincRNA	INS	-	-	CCAGTGATGGTCACCT	rs200421189|rs71143515|rs377231404|rs145408521|rs140029302	byFrequency	TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr16:64770704_64770705insCCAGTGATGGTCACCT	ENST00000564293.1	+	0	453_454																											TGTCACCACTGCCACCTTGTTC	0.371														3288	0.65655	0.8434	0.5144	5008	,	,		21531	0.6052		0.5537	False		,,,				2504	0.6636					ENST00000564293.1																			0																																																			0							g.chr16:64770704_64770705insCCAGTGATGGTCACCT																													16.37:g.64770704_64770705insCCAGTGATGGTCACCT														0	453_454	+									RNA	INS	ENST00000564293.1	37																																																																																						0.371	RP11-439I14.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000422725.1			5	9						5	9	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579323	7579324	+	Frame_Shift_Ins	INS	-	-	A	rs587781495		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:7579323_7579324insA	ENST00000269305.4	-	4	552_553	c.363_364insT	c.(361-366)tctgtgfs	p.V122fs	TP53_ENST00000420246.2_Frame_Shift_Ins_p.V122fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Ins_p.V122fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.V122fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.V122fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.V122fs	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	122	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> L (in a sporadic cancer; somatic mutation).		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.G59fs*23(3)|p.S121fs*27(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.V122L(1)|p.P13fs*18(1)|p.S33fs*23(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)	GTGCAAGTCACAGACTTGGCTG	0.559		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"""		20	Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(2)|Substitution - Missense(1)	p.0?(8)|p.G59fs*23(3)|p.S121fs*27(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.V122L(1)|p.P13fs*18(1)|p.S33fs*23(1)	upper_aerodigestive_tract(4)|bone(4)|breast(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|stomach(1)|urinary_tract(1)|liver(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.(361-366)tctgacfs	Other conserved DNA damage response genes	tumor protein p53																																				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.chr17:7579323_7579324insA	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.364dupT	17.37:g.7579324_7579324dupA	ENSP00000269305:p.Val122fs	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_ENST00000445888.2_Frame_Shift_Ins_p.D122fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.D122fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.D122fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.D122fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.D122fs	p.D122fs	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)	4	495_496	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	122		V -> L (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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_Ins	INS	ENST00000269305.4	37	c.363_364insT	CCDS11118.1																																																																																				0.559	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		71	97						71	97	---	---	---	---
AATF	26574	broad.mit.edu	37	17	35306431	35306431	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:35306431delG	ENST00000225402.5	+	1	257	c.6delG	c.(4-6)gcgfs	p.A2fs		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	2				AG -> GR (in Ref. 2; AAD52016). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TGACGATGGCGGGGCCGCAGC	0.687																																					NSCLC(49;901 1159 19183 41572 46244)	ENST00000225402.5																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18						c.(4-6)gcfs		apoptosis antagonizing transcription factor							12.0	14.0	13.0					17																	35306431		2144	4230	6374	SO:0001589	frameshift_variant	26574				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	g.chr17:35306431delG	AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.6delG	17.37:g.35306431delG	ENSP00000225402:p.Ala2fs						p.A2fs	NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN			1	257	+		Breast(25;0.00607)	2	AG -> GR (in Ref. 2; AAD52016).				A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Frame_Shift_Del	DEL	ENST00000225402.5	37	c.6delG	CCDS32632.1																																																																																				0.687	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1	NM_012138		2	4						2	4	---	---	---	---
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073	byFrequency	TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(25-27)ggc>GGCggc	p.9_9G>GG		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	9	Poly-Gly.				energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772														1448	0.289137	0.0772	0.3199	5008	,	,		6733	0.3968		0.4165	False		,,,				2504	0.3119					ENST00000316249.3																			2	Insertion - In frame(2)	p.P8_G9insG(2)	upper_aerodigestive_tract(2)	breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(22-27)ccgcgg>ccGGCgcgg		potassium voltage-gated channel, subfamily G, member 2																																				SO:0001652	inframe_insertion	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77623691_77623692insGGC	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.34_36dupGGC	18.37:g.77623698_77623700dupGGC	ENSP00000315654:p.Gly13dup						p.8_9PR>PAR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	24_25	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	8						In_Frame_Ins	INS	ENST00000316249.3	37	c.24_25insGGC	CCDS12019.1																																																																																				0.772	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		3	3						3	3	---	---	---	---
MIR663AHG	284801	broad.mit.edu	37	20	26173891	26173892	+	lincRNA	DEL	AG	AG	-	rs200330559|rs138452203	byFrequency	TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr20:26173891_26173892delAG	ENST00000416638.1	+	0	67																											aaaaagaaaaagagaaaagaga	0.386														720	0.14377	0.0976	0.1585	5008	,	,		21101	0.246		0.1491	False		,,,				2504	0.0849					ENST00000416638.1																			0																																																			0							g.chr20:26173891_26173892delAG																													20.37:g.26173893_26173894delAG														0	67	+									RNA	DEL	ENST00000416638.1	37																																																																																						0.386	RP3-410C9.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078485.1			3	3						3	3	---	---	---	---
AC008132.13	0	broad.mit.edu	37	22	18842473	18842473	+	Intron	DEL	G	G	-	rs66480106	byFrequency	TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr22:18842473delG	ENST00000412938.1	+	4	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													?|GGGG|GGG|unsure	2225	0.444289	0.2716	0.4467	5008	,	,		25744	0.5079		0.5099	False		,,,				2504	0.5429					ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18842473delG																												ENST00000412938.1:c.2209-830G>-	22.37:g.18842473delG														0	2208	+									RNA	DEL	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	6						5	6	---	---	---	---
SEC14L2	23541	broad.mit.edu	37	22	30811775	30811776	+	Frame_Shift_Del	DEL	AT	AT	-	rs370008864		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr22:30811775_30811776delAT	ENST00000312932.9	+	9	952_953	c.692_693delAT	c.(691-693)catfs	p.H231fs	SEC14L2_ENST00000403484.1_Frame_Shift_Del_p.H157fs|SEC14L2_ENST00000402592.3_Frame_Shift_Del_p.H148fs|SEC14L2_ENST00000405717.3_Frame_Shift_Del_p.H231fs|RP4-539M6.19_ENST00000439838.1_Frame_Shift_Del_p.H65fs	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	231	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	TTACTGAAACATATCAGCCCTG	0.5																																						ENST00000312932.9																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10						c.(691-693)cfs		SEC14-like 2 (S. cerevisiae)	Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	23541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding	g.chr22:30811775_30811776delAT	AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"""supernatant protein factor"""	607558	"""SEC14 (S. cerevisiae)-like 2"""	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.692_693delAT	22.37:g.30811777_30811778delAT	ENSP00000316203:p.His231fs					SEC14L2_ENST00000403484.1_Frame_Shift_Del_p.H157fs|SEC14L2_ENST00000402592.3_Frame_Shift_Del_p.H148fs|SEC14L2_ENST00000405717.3_Frame_Shift_Del_p.H231fs|RP4-539M6.19_ENST00000439838.1_Frame_Shift_Del_p.H65fs	p.H231fs	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN			9	952_953	+			231			CRAL-TRIO.		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Frame_Shift_Del	DEL	ENST00000312932.9	37	c.692_693delAT	CCDS13876.1																																																																																				0.500	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	NM_012429		48	54						48	54	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76777841	76777841	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chrX:76777841delG	ENST00000373344.5	-	32	7089	c.6875delC	c.(6874-6876)ccafs	p.P2292fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.P2254fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2292					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GGTCCCAGTTGGTATGTTGAA	0.383			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6874-6876)cafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						86.0	81.0	83.0					X																	76777841		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76777841delG	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6875delC	X.37:g.76777841delG	ENSP00000362441:p.Pro2292fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.P2254fs	p.P2292fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			32	7089	-			2292					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6875delC	CCDS14434.1																																																																																				0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		158	31						158	31	---	---	---	---
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		10	212						10	212	---	---	---	---
