#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
GFPT1	2673	broad.mit.edu	37	2	69554110	69554110	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr2:69554110C>T	ENST00000357308.4	-	19	2169	c.1991G>A	c.(1990-1992)gGc>gAc	p.G664D	GFPT1_ENST00000361060.5_Missense_Mutation_p.G646D	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	664	Isomerase.|SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GCTGAGAATGCCCTGCAAGCA	0.488																																						ENST00000357308.4																			0				endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						c.(1990-1992)gGc>gAc		glutamine--fructose-6-phosphate transaminase 1							160.0	133.0	142.0					2																	69554110		2203	4300	6503	SO:0001583	missense	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69554110C>T		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1991G>A	2.37:g.69554110C>T	ENSP00000349860:p.Gly664Asp					GFPT1_ENST00000361060.4_Missense_Mutation_p.G646D	p.G664D	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN			19	2169	-			664			SIS 2.		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.1991G>A	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	C	32	5.135452	0.94517	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.65916	-0.18;-0.18	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.85093	0.5618	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88838	0.3310	10	0.66056	D	0.02	-12.1899	17.8098	0.88612	0.0:1.0:0.0:0.0	.	646	Q06210-2	.	D	664;646	ENSP00000349860:G664D;ENSP00000354347:G646D	ENSP00000349860:G664D	G	-	2	0	GFPT1	69407614	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.523000	0.81856	2.675000	0.91044	0.563000	0.77884	GGC		0.488	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				4	131	0	0	0	0.000602	0	4	131				
SYNJ2BP	55333	broad.mit.edu	37	14	70842422	70842422	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr14:70842422A>G	ENST00000256366.4	-	3	349	c.268T>C	c.(268-270)Tat>Cat	p.Y90H	SYNJ2BP-COX16_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_5'UTR	NM_018373.2	NP_060843.2	P57105	SYJ2B_HUMAN	synaptojanin 2 binding protein	90	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular distribution of mitochondria (GO:0048312)|negative regulation of activin receptor signaling pathway (GO:0032926)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of receptor internalization (GO:0002092)	cell surface (GO:0009986)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		GACACAGCATAGCCTGCATTA	0.473																																						ENST00000256366.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5						c.(268-270)Tat>Cat		synaptojanin 2 binding protein							223.0	201.0	208.0					14																	70842422		2203	4300	6503	SO:0001583	missense	55333							g.chr14:70842422A>G	AK002133	CCDS9803.1	14q24.2	2013-05-10			ENSG00000213463	ENSG00000213463			18955	protein-coding gene	gene with protein product	"""activin receptor interacting protein 5"""	609411				11882656	Standard	NM_018373		Approved	Arip2		P57105	OTTHUMG00000171240	ENST00000256366.4:c.268T>C	14.37:g.70842422A>G	ENSP00000256366:p.Tyr90His					SYNJ2BP_ENST00000554216.1_5'UTR|RP11-718G2.3_ENST00000555276.1_RNA	p.Y90H	NM_018373.2	NP_060843.2				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)	3	349	-								Q49SH3|Q96IA4	Missense_Mutation	SNP	ENST00000256366.4	37	c.268T>C	CCDS9803.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.095075	0.56075	.	.	ENSG00000213463	ENST00000256366	T	0.26518	1.73	5.85	4.7	0.59300	PDZ/DHR/GLGF (4);	0.221665	0.32028	N	0.006696	T	0.14960	0.0361	N	0.01874	-0.695	0.26506	N	0.974685	B	0.31351	0.32	P	0.45610	0.487	T	0.22347	-1.0219	10	0.36615	T	0.2	-3.0243	6.5614	0.22489	0.7657:0.1551:0.0792:0.0	.	90	P57105	SYJ2B_HUMAN	H	90	ENSP00000256366:Y90H	ENSP00000256366:Y90H	Y	-	1	0	SYNJ2BP	69912175	0.935000	0.31712	1.000000	0.80357	0.801000	0.45260	1.857000	0.39399	1.152000	0.42452	0.533000	0.62120	TAT		0.473	SYNJ2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412472.1	NM_018373		6	195	0	0	0	0.001984	0	6	195				
PLCXD3	345557	broad.mit.edu	37	5	41381990	41381990	+	Silent	SNP	G	G	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:41381990G>T	ENST00000377801.3	-	2	824	c.750C>A	c.(748-750)acC>acA	p.T250T	PLCXD3_ENST00000328457.3_Silent_p.T250T			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	250					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TAGCTTTGGGGGTCAGCACCA	0.463																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(748-750)acC>acA		phosphatidylinositol-specific phospholipase C, X domain containing 3							82.0	88.0	86.0					5																	41381990		2203	4300	6503	SO:0001819	synonymous_variant	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41381990G>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.750C>A	5.37:g.41381990G>T						PLCXD3_ENST00000328457.3_Silent_p.T250T	p.T250T			Q63HM9	PLCX3_HUMAN			2	824	-			250					A6NL04	Silent	SNP	ENST00000377801.3	37	c.750C>A	CCDS34150.1																																																																																				0.463	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		38	130	1	0	5.44703e-19	0.002222	7.13301e-19	38	130				
CCDC185	164127	broad.mit.edu	37	1	223568185	223568185	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:223568185C>A	ENST00000366875.3	+	1	1471	c.1368C>A	c.(1366-1368)ttC>ttA	p.F456L		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		456										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AACAAAGTTTCCAGCGGTCCC	0.607																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(1366-1368)ttC>ttA		chromosome 1 open reading frame 65							39.0	40.0	40.0					1																	223568185		2203	4300	6503	SO:0001583	missense	164127							g.chr1:223568185C>A																												ENST00000366875.3:c.1368C>A	1.37:g.223568185C>A	ENSP00000355840:p.Phe456Leu						p.F456L	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	1471	+			456					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.1368C>A	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.741578	0.00675	.	.	ENSG00000178395	ENST00000366875	T	0.19250	2.16	5.7	1.72	0.24424	.	.	.	.	.	T	0.15782	0.0380	L	0.43152	1.355	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.35151	-0.9800	9	0.19590	T	0.45	.	7.0965	0.25313	0.0:0.4375:0.4096:0.1529	.	456	Q8N715	CA065_HUMAN	L	456	ENSP00000355840:F456L	ENSP00000355840:F456L	F	+	3	2	C1orf65	221634808	0.000000	0.05858	0.012000	0.15200	0.201000	0.24016	-0.194000	0.09559	0.063000	0.16370	0.655000	0.94253	TTC		0.607	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			15	55	1	0	4.7546e-09	0.004007	5.68485e-09	15	55				
HIST1H1C	3006	broad.mit.edu	37	6	26056346	26056346	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr6:26056346G>A	ENST00000343677.2	-	1	353	c.311C>T	c.(310-312)tCc>tTc	p.S104F		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	104	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GAGTTTAAAGGAGCCAGAAGC	0.527																																						ENST00000343677.2																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						c.(310-312)tCc>tTc		histone cluster 1, H1c							90.0	96.0	94.0					6																	26056346		2203	4300	6503	SO:0001583	missense	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056346G>A	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.311C>T	6.37:g.26056346G>A	ENSP00000339566:p.Ser104Phe						p.S104F	NM_005319.3	NP_005310.1	P16403	H12_HUMAN			1	353	-			104			H15.		A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	c.311C>T	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892517	0.72524	.	.	ENSG00000187837	ENST00000343677	T	0.11385	2.78	5.54	5.54	0.83059	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.41003	0.1140	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55921	-0.8064	10	0.87932	D	0	-27.9247	18.8173	0.92081	0.0:0.0:1.0:0.0	.	104	P16403	H12_HUMAN	F	104	ENSP00000339566:S104F	ENSP00000339566:S104F	S	-	2	0	HIST1H1C	26164325	1.000000	0.71417	0.963000	0.40424	0.273000	0.26683	9.595000	0.98260	2.763000	0.94921	0.655000	0.94253	TCC		0.527	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		46	164	0	0	0	0.003610	0	46	164				
GLIS3	169792	broad.mit.edu	37	9	3828287	3828287	+	Silent	SNP	G	G	C	rs199920423		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr9:3828287G>C	ENST00000324333.10	-	10	2506	c.2313C>G	c.(2311-2313)gtC>gtG	p.V771V	GLIS3_ENST00000381971.3_Silent_p.V926V|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	771					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTTCGGTGTAGACAGAGGAGA	0.562																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(2311-2313)gtC>gtG		GLIS family zinc finger 3							59.0	60.0	59.0					9																	3828287		2203	4300	6503	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3828287G>C	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2313C>G	9.37:g.3828287G>C						GLIS3_ENST00000381971.3_Silent_p.V926V|GLIS3_ENST00000461870.1_5'UTR	p.V771V	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	10	2506	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	771					B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	c.2313C>G	CCDS6451.1																																																																																				0.562	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		11	29	0	0	0	0.000978	0	11	29				
SYTL2	54843	broad.mit.edu	37	11	85436182	85436182	+	Intron	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr11:85436182C>T	ENST00000528231.1	-	7	1737				SYTL2_ENST00000525423.1_Missense_Mutation_p.V440I|SYTL2_ENST00000354566.3_Missense_Mutation_p.V440I|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.V964I|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGGCTACATACTGGCTGTACT	0.463																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2890-2892)Gta>Ata		synaptotagmin-like 2							81.0	79.0	80.0					11																	85436182		2203	4299	6502	SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85436182C>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2756G>A	11.37:g.85436182C>T						SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.V440I|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.V440I	p.V964I	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	1	2889	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	0					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.2890G>A	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	4.807	0.149985	0.09185	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.26660	1.72;1.72;1.72	5.56	1.29	0.21616	.	1.173640	0.06092	N	0.663886	T	0.12390	0.0301	N	0.08118	0	0.09310	N	1	B;B;B	0.14438	0.01;0.01;0.01	B;B;B	0.15484	0.013;0.013;0.013	T	0.33624	-0.9861	9	.	.	.	-0.0094	5.0886	0.14696	0.1239:0.6016:0.1196:0.1548	.	440;440;440	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	I	964;440;440	ENSP00000352065:V964I;ENSP00000346576:V440I;ENSP00000432694:V440I	.	V	-	1	0	SYTL2	85113830	0.000000	0.05858	0.011000	0.14972	0.078000	0.17371	-1.016000	0.03633	0.142000	0.18901	-0.808000	0.03180	GTA		0.463	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		20	86	0	0	0	0.002299	0	20	86				
SAGE1	55511	broad.mit.edu	37	X	134988650	134988650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:134988650C>T	ENST00000370709.3	+	6	676	c.676C>T	c.(676-678)Cga>Tga	p.R226*	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000535938.1_Nonsense_Mutation_p.R226*|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.R226*			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	226						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GTTGACTCTTCGACCACGGCG	0.428																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(676-678)Cga>Tga		sarcoma antigen 1							199.0	166.0	177.0					X																	134988650		2203	4300	6503	SO:0001587	stop_gained	55511							g.chrX:134988650C>T	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.676C>T	X.37:g.134988650C>T	ENSP00000359743:p.Arg226*					SAGE1_ENST00000324447.3_Nonsense_Mutation_p.R226*|SAGE1_ENST00000370709.3_Nonsense_Mutation_p.R226*|SAGE1_ENST00000537770.1_Intron	p.R226*	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			7	843	+	Acute lymphoblastic leukemia(192;0.000127)		226					Q5JNW0	Nonsense_Mutation	SNP	ENST00000370709.3	37	c.676C>T	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941128	0.34283	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	.	.	.	1.22	-1.15	0.09709	.	0.000000	0.64402	U	0.000008	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	2.4675	0.04556	0.0:0.4323:0.3184:0.2493	.	.	.	.	X	226	.	ENSP00000323191:R226X	R	+	1	2	SAGE1	134816316	0.006000	0.16342	0.001000	0.08648	0.014000	0.08584	0.146000	0.16180	-0.469000	0.06911	0.292000	0.19580	CGA		0.428	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		11	287	0	0	0	0.000978	0	11	287				
IGSF10	285313	broad.mit.edu	37	3	151163027	151163027	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr3:151163027G>T	ENST00000282466.3	-	4	4741	c.4742C>A	c.(4741-4743)tCa>tAa	p.S1581*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1581					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAATTTCTGAGTATGGTTT	0.438																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(4741-4743)tCa>tAa		immunoglobulin superfamily, member 10							160.0	158.0	158.0					3																	151163027		2203	4300	6503	SO:0001587	stop_gained	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151163027G>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4742C>A	3.37:g.151163027G>T	ENSP00000282466:p.Ser1581*						p.S1581*	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	4741	-			1581					Q86YJ9|Q8N772|Q8NA84	Nonsense_Mutation	SNP	ENST00000282466.3	37	c.4742C>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	44	10.802257	0.99470	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	.	.	.	5.76	4.89	0.63831	.	0.703505	0.12368	N	0.475057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.776	0.57448	0.0766:0.0:0.9234:0.0	.	.	.	.	X	1581;208	.	ENSP00000282466:S1581X	S	-	2	0	IGSF10	152645717	0.982000	0.34865	0.818000	0.32626	0.784000	0.44337	4.924000	0.63418	1.441000	0.47550	0.650000	0.86243	TCA		0.438	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		22	187	1	0	2.37509e-13	0.001523	2.96886e-13	22	187				
WWC1	23286	broad.mit.edu	37	5	167858267	167858267	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:167858267G>A	ENST00000265293.4	+	15	2600	c.2098G>A	c.(2098-2100)Gtg>Atg	p.V700M	WWC1_ENST00000521089.1_Missense_Mutation_p.V700M	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	700	C2.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAATATCCGCGTGGCTGTCCT	0.532																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(2098-2100)Gtg>Atg		WW and C2 domain containing 1							86.0	70.0	75.0					5																	167858267		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167858267G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2098G>A	5.37:g.167858267G>A	ENSP00000265293:p.Val700Met					WWC1_ENST00000521089.1_Missense_Mutation_p.V700M	p.V700M	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	15	2600	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	700			C2.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.2098G>A	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.41|15.41	2.825396|2.825396	0.50739|0.50739	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000393895;ENST00000524228|ENST00000265293;ENST00000521089;ENST00000524038	T;T|T;T;T	0.25579|0.52057	1.79;1.79|0.68;0.68;0.68	5.08|5.08	4.22|4.22	0.49857|0.49857	.|C2 calcium/lipid-binding domain, CaLB (1);	.|0.229124	.|0.35805	.|N	.|0.002967	T|T	0.69842|0.69842	0.3156|0.3156	M|M	0.84326|0.84326	2.69|2.69	0.52501|0.52501	D|D	0.999955|0.999955	.|D;D;D;D	.|0.89917	.|0.996;1.0;1.0;0.997	.|P;D;D;P	.|0.79108	.|0.659;0.991;0.992;0.764	T|T	0.75230|0.75230	-0.3391|-0.3391	7|10	0.87932|0.87932	D|D	0|0	.|.	13.7278|13.7278	0.62769|0.62769	0.0743:0.0:0.9257:0.0|0.0743:0.0:0.9257:0.0	.|.	.|700;606;606;700	.|Q8IX03-2;F5H498;B3KX05;Q8IX03	.|.;.;.;KIBRA_HUMAN	H|M	661;476|700;700;26	ENSP00000377473:R661H;ENSP00000429339:R476H|ENSP00000265293:V700M;ENSP00000427772:V700M;ENSP00000428084:V26M	ENSP00000377473:R661H|ENSP00000265293:V700M	R|V	+|+	2|1	0|0	WWC1|WWC1	167790845|167790845	1.000000|1.000000	0.71417|0.71417	0.097000|0.097000	0.21041|0.21041	0.456000|0.456000	0.32438|0.32438	3.322000|3.322000	0.52007|0.52007	1.145000|1.145000	0.42336|0.42336	-0.137000|-0.137000	0.14449|0.14449	CGT|GTG		0.532	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		7	125	0	0	0	0.001984	0	7	125				
SDK1	221935	broad.mit.edu	37	7	4259754	4259754	+	Silent	SNP	G	G	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr7:4259754G>T	ENST00000404826.2	+	39	5692	c.5553G>T	c.(5551-5553)gtG>gtT	p.V1851V	SDK1_ENST00000389531.3_Silent_p.V1831V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1851	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V1851V(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGAGCAAGGTGGTGACCGTGG	0.567																																						ENST00000404826.2																			1	Substitution - coding silent(1)	p.V1851V(1)	large_intestine(1)	NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(5551-5553)gtG>gtT		sidekick cell adhesion molecule 1							80.0	80.0	80.0					7																	4259754		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4259754G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5553G>T	7.37:g.4259754G>T						SDK1_ENST00000389531.3_Silent_p.V1831V	p.V1851V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	39	5692	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1851			Fibronectin type-III 12.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.5553G>T	CCDS34590.1																																																																																				0.567	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		22	114	1	0	5.26018e-13	0.001882	6.42911e-13	22	114				
IGHV3-38	28429	broad.mit.edu	37	14	106866707	106866707	+	RNA	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr14:106866707C>T	ENST00000390618.2	-	0	124									immunoglobulin heavy variable 3-38 (non-functional)																		ACACTGGACACCTGCAAACAC	0.537																																						ENST00000390618.2																			0																				160.0	118.0	132.0					14																	106866707		2015	4128	6143			0							g.chr14:106866707C>T	M99669		14q32.33	2012-02-08	2008-08-22		ENSG00000211958	ENSG00000211958		"""Immunoglobulins / IGH locus"""	5601	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-38"""				Standard	NG_001019		Approved				OTTHUMG00000152093		14.37:g.106866707C>T														0	124	-									RNA	SNP	ENST00000390618.2	37																																																																																						0.537	IGHV3-38-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325190.1	NG_001019		4	220	0	0	0	0.000248	0	4	220				
SLC4A4	8671	broad.mit.edu	37	4	72121038	72121038	+	Silent	SNP	A	A	C	rs560219064		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr4:72121038A>C	ENST00000264485.5	+	3	292	c.175A>C	c.(175-177)Aga>Cga	p.R59R	SLC4A4_ENST00000351898.6_Silent_p.R59R|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Silent_p.R59R	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	59					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GGAAAAGGAGAGAATCTCTGA	0.448																																						ENST00000425175.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(175-177)Aga>Cga		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							146.0	151.0	150.0					4																	72121038		1937	4126	6063	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72121038A>C	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.175A>C	4.37:g.72121038A>C						SLC4A4_ENST00000264485.5_Silent_p.R59R|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Silent_p.R59R	p.R59R	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		3	292	+			59					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.175A>C	CCDS43236.1																																																																																				0.448	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		7	130	0	0	0	0.001984	0	7	130				
PPIF	10105	broad.mit.edu	37	10	81113478	81113478	+	Silent	SNP	T	T	C			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr10:81113478T>C	ENST00000225174.3	+	6	575	c.504T>C	c.(502-504)caT>caC	p.H168H	PPIF_ENST00000394579.3_Missense_Mutation_p.M143T	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	168	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic mitochondrial changes (GO:0008637)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ATPase activity (GO:0032780)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein folding (GO:0006457)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of necrotic cell death (GO:0010939)|regulation of proton-transporting ATPase activity, rotational mechanism (GO:0010849)|response to ischemia (GO:0002931)	membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Cyclosporine(DB00091)|L-Proline(DB00172)	ATGGCAAGCATGTTGTGTTCG	0.502																																						ENST00000394579.3																			0				endometrium(2)|lung(2)|skin(2)	6						c.(427-429)aTg>aCg		peptidylprolyl isomerase F	Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)						189.0	165.0	173.0					10																	81113478		2203	4300	6503	SO:0001819	synonymous_variant	10105				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity	g.chr10:81113478T>C	M80254	CCDS7358.1	10q22-q23	2008-10-24	2008-10-24		ENSG00000108179	ENSG00000108179	5.2.1.8		9259	protein-coding gene	gene with protein product	"""cyclophilin D"""	604486	"""peptidylprolyl isomerase F (cyclophilin F)"""			1744118	Standard	NM_005729		Approved	hCyP3, Cyp-D	uc001kai.3	P30405	OTTHUMG00000018562	ENST00000225174.3:c.504T>C	10.37:g.81113478T>C						PPIF_ENST00000225174.3_Silent_p.H168H	p.M143T			P30405	PPIF_HUMAN	Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		5	506	+	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		0			PPIase cyclophilin-type.		Q2YDB7|Q5W131	Missense_Mutation	SNP	ENST00000225174.3	37	c.428T>C	CCDS7358.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.14|14.14	2.446674|2.446674	0.43429|0.43429	.|.	.|.	ENSG00000108179|ENSG00000108179	ENST00000448165|ENST00000394579	.|T	.|0.35236	.|1.32	6.07|6.07	-2.01|-2.01	0.07410|0.07410	.|.	.|.	.|.	.|.	.|.	T|T	0.24661|0.24661	0.0598|0.0598	.|.	.|.	.|.	0.25315|0.25315	N|N	0.98917|0.98917	.|B	.|0.02656	.|0.0	.|B	.|0.08055	.|0.003	T|T	0.29274|0.29274	-1.0017|-1.0017	4|8	.|0.87932	.|D	.|0	-12.5751|-12.5751	7.5647|7.5647	0.27872|0.27872	0.104:0.3903:0.0:0.5056|0.104:0.3903:0.0:0.5056	.|.	.|143	.|Q2YDB7	.|.	R|T	153|143	.|ENSP00000378080:M143T	.|ENSP00000378080:M143T	C|M	+|+	1|2	0|0	PPIF|PPIF	80783484|80783484	0.169000|0.169000	0.23002|0.23002	0.728000|0.728000	0.30774|0.30774	0.991000|0.991000	0.79684|0.79684	-0.566000|-0.566000	0.05922|0.05922	-0.292000|-0.292000	0.08999|0.08999	0.533000|0.533000	0.62120|0.62120	TGT|ATG		0.502	PPIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048949.1	NM_005729		37	132	0	0	0	0.002852	0	37	132				
COL4A5	1287	broad.mit.edu	37	X	107840717	107840717	+	Silent	SNP	T	T	C	rs143442986		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:107840717T>C	ENST00000361603.2	+	24	1942	c.1698T>C	c.(1696-1698)ccT>ccC	p.P566P	COL4A5_ENST00000328300.6_Silent_p.P566P	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	566	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGGTTCCCCTGGAGCTCCAG	0.537									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(1696-1698)ccT>ccC		collagen, type IV, alpha 5		T	,	1,3834		0,1,1631,571	65.0	63.0	64.0		1698,1698	3.2	1.0	X	dbSNP_134	64	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	COL4A5	NM_000495.3,NM_033380.1	,	0,1,4059,2443	CC,CT,TT,T		0.0,0.0261,0.0095	,	566/1686,566/1692	107840717	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107840717T>C	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1698T>C	X.37:g.107840717T>C						COL4A5_ENST00000361603.2_Silent_p.P566P	p.P566P	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			24	1942	+			566			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.1698T>C	CCDS14543.1																																																																																				0.537	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			6	96	0	0	0	0.001984	0	6	96				
PYGL	5836	broad.mit.edu	37	14	51378916	51378916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr14:51378916G>A	ENST00000216392.7	-	14	2058	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000532462.1_Nonsense_Mutation_p.R576*|PYGL_ENST00000544180.2_Nonsense_Mutation_p.R542*	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	576					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	AAGAGCTGTCGCTTGTACTCA	0.493																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(1726-1728)Cga>Tga		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						197.0	177.0	184.0					14																	51378916		2203	4300	6503	SO:0001587	stop_gained	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51378916G>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1726C>T	14.37:g.51378916G>A	ENSP00000216392:p.Arg576*					PYGL_ENST00000544180.2_Nonsense_Mutation_p.R542*|PYGL_ENST00000532462.1_Nonsense_Mutation_p.R576*	p.R576*	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			14	2058	-	all_epithelial(31;0.00825)|Breast(41;0.148)		576					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Nonsense_Mutation	SNP	ENST00000216392.7	37	c.1726C>T	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	G	43	10.397878	0.99397	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	.	.	.	5.74	3.86	0.44501	.	0.067303	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8526	14.6499	0.68789	0.0:0.0:0.7619:0.2381	.	.	.	.	X	576;542;576	.	ENSP00000216392:R576X	R	-	1	2	PYGL	50448666	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.208000	0.42797	0.721000	0.32231	0.563000	0.77884	CGA		0.493	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		6	238	0	0	0	0.001168	0	6	238				
CTR9	9646	broad.mit.edu	37	11	10783517	10783517	+	Silent	SNP	C	C	T	rs574272777		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr11:10783517C>T	ENST00000361367.2	+	7	1191	c.765C>T	c.(763-765)gtC>gtT	p.V255V		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	255					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAAATGGTGTCCAGCTTCTTT	0.343																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(763-765)gtC>gtT		CTR9, Paf1/RNA polymerase II complex component							125.0	122.0	123.0					11																	10783517		2201	4294	6495	SO:0001819	synonymous_variant	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10783517C>T	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.765C>T	11.37:g.10783517C>T							p.V255V	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	7	1191	+			255					D3DQV8|Q15015	Silent	SNP	ENST00000361367.2	37	c.765C>T	CCDS7805.1																																																																																				0.343	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		10	55	0	0	0	0.000978	0	10	55				
NRCAM	4897	broad.mit.edu	37	7	107791186	107791186	+	Intron	SNP	A	A	C			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr7:107791186A>C	ENST00000425651.2	-	30	3677				NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000379028.3_Intron|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.F1230L|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000413765.2_Intron	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CAGAAGAAACAAATGAAAACA	0.289																																						ENST00000379022.4																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(3688-3690)ttT>ttG		neuronal cell adhesion molecule																																				SO:0001627	intron_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107791186A>C		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3678-594T>G	7.37:g.107791186A>C						NRCAM_ENST00000425651.2_Intron|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000379028.3_Intron|NRCAM_ENST00000351718.4_Intron	p.F1230L			Q92823	NRCAM_HUMAN			34	4160	-			0					A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.3690T>G	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.299328	0.40694	.	.	ENSG00000091129	ENST00000379022	T	0.56941	0.43	5.79	4.61	0.57282	.	.	.	.	.	T	0.56746	0.2006	.	.	.	0.23138	N	0.998231	.	.	.	.	.	.	T	0.51965	-0.8638	6	0.72032	D	0.01	.	10.7333	0.46109	0.927:0.0:0.073:0.0	.	.	.	.	L	1230	ENSP00000368308:F1230L	ENSP00000368308:F1230L	F	-	3	2	NRCAM	107578422	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.119000	0.64679	0.969000	0.38237	0.454000	0.30748	TTT		0.289	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		10	31	0	0	0	0.000978	0	10	31				
GPR176	11245	broad.mit.edu	37	15	40093791	40093791	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr15:40093791G>A	ENST00000561100.1	-	3	1955	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C	GPR176_ENST00000560729.1_5'Flank|GPR176_ENST00000299092.3_Missense_Mutation_p.R363C|RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000543580.1_Missense_Mutation_p.R319C	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	364					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTACCCGAGCGTATGCTGGGT	0.567																																						ENST00000299092.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23						c.(1087-1089)Cgc>Tgc		G protein-coupled receptor 176							108.0	100.0	103.0					15																	40093791		2203	4300	6503	SO:0001583	missense	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40093791G>A	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1090C>T	15.37:g.40093791G>A	ENSP00000453076:p.Arg364Cys					GPR176_ENST00000543580.1_Missense_Mutation_p.R319C|GPR176_ENST00000561100.1_Missense_Mutation_p.R364C	p.R363C	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	4	1285	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	364					Q6NXF6	Missense_Mutation	SNP	ENST00000561100.1	37	c.1087C>T	CCDS10051.1	.	.	.	.	.	.	.	.	.	.	g	16.46	3.128172	0.56721	.	.	ENSG00000166073	ENST00000299092;ENST00000543580	D	0.82526	-1.62	6.17	5.27	0.74061	.	0.049670	0.85682	D	0.000000	D	0.88640	0.6491	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	P	0.62885	0.908	D	0.89865	0.4019	10	0.87932	D	0	-16.3214	17.8654	0.88794	0.0:0.1216:0.8784:0.0	.	364	Q14439	GP176_HUMAN	C	364;319	ENSP00000439361:R319C	ENSP00000299092:R364C	R	-	1	0	GPR176	37881083	1.000000	0.71417	0.979000	0.43373	0.278000	0.26855	9.624000	0.98398	1.643000	0.50594	-0.121000	0.15023	CGC		0.567	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		4	164	0	0	0	0.000248	0	4	164				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		4	157	0	0	0	0.000248	0	4	157				
MTCL1	23255	broad.mit.edu	37	18	8825636	8825636	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr18:8825636G>T	ENST00000306329.11	+	13	5085	c.5085G>T	c.(5083-5085)aaG>aaT	p.K1695N	SOGA2_ENST00000518815.1_Missense_Mutation_p.K701N|SOGA2_ENST00000306285.7_Missense_Mutation_p.K701N|SOGA2_ENST00000400050.3_Missense_Mutation_p.K1335N|SOGA2_ENST00000517570.1_Missense_Mutation_p.K1335N|SOGA2_ENST00000359865.3_Missense_Mutation_p.K1376N																							CCATCGAGAAGGTGCAGGCCA	0.602																																						ENST00000359865.3																			0											c.(4126-4128)aaG>aaT		SOGA family member 2							40.0	35.0	36.0					18																	8825636		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8825636G>T																												ENST00000306329.11:c.5085G>T	18.37:g.8825636G>T	ENSP00000305027:p.Lys1695Asn					SOGA2_ENST00000306329.11_Missense_Mutation_p.K1695N|SOGA2_ENST00000518815.1_Missense_Mutation_p.K701N|SOGA2_ENST00000306285.7_Missense_Mutation_p.K701N|SOGA2_ENST00000517570.1_Missense_Mutation_p.K1335N|SOGA2_ENST00000400050.3_Missense_Mutation_p.K1335N	p.K1376N	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			15	4270	+			1686						Missense_Mutation	SNP	ENST00000306329.11	37	c.4128G>T		.	.	.	.	.	.	.	.	.	.	G	22.1	4.245914	0.80024	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.52295	1.72;1.68;1.72;0.67	5.54	5.54	0.83059	.	0.493570	0.17644	N	0.166935	T	0.71417	0.3337	M	0.75264	2.295	0.46823	D	0.999216	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	T	0.73316	-0.4021	10	0.87932	D	0	-46.7953	19.4821	0.95014	0.0:0.0:1.0:0.0	.	1686;1376	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	N	1397;1335;1376;1335;701	ENSP00000429556:K1335N;ENSP00000352927:K1376N;ENSP00000382924:K1335N;ENSP00000303670:K701N	ENSP00000303670:K701N	K	+	3	2	CCDC165	8815636	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.654000	0.46699	2.612000	0.88384	0.563000	0.77884	AAG		0.602	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			8	25	1	0	0.000274275	0.004482	0.00032096	8	25				
CDH12	1010	broad.mit.edu	37	5	21752212	21752212	+	Silent	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:21752212G>A	ENST00000382254.1	-	15	3105	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	CDH12_ENST00000522262.1_Silent_p.F633F|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Silent_p.F673F|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	673					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCCCGATGTCGAAAGCCTGGG	0.463										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2017-2019)ttC>ttT		cadherin 12, type 2 (N-cadherin 2)							122.0	109.0	113.0					5																	21752212		2203	4300	6503	SO:0001819	synonymous_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21752212G>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2019C>T	5.37:g.21752212G>A		HNSCC(59;0.17)				CDH12_ENST00000522262.1_Silent_p.F633F|CDH12_ENST00000504376.2_Silent_p.F673F|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA	p.F673F	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			15	3105	-			673					B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	c.2019C>T	CCDS3890.1																																																																																				0.463	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		14	83	0	0	0	0.003163	0	14	83				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	71	0	0	0	0.004656	0	25	71				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	19	0	0	0	0.004007	0	17	19				
ZC3H12B	340554	broad.mit.edu	37	X	64719804	64719804	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:64719804G>T	ENST00000338957.4	+	4	1092	c.1025G>T	c.(1024-1026)aGc>aTc	p.S342I	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.S331I	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	342							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACGGCCCAAGCCTTGAAAAT	0.443																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1024-1026)aGc>aTc		zinc finger CCCH-type containing 12B							180.0	168.0	172.0					X																	64719804		1933	4131	6064	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64719804G>T	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1025G>T	X.37:g.64719804G>T	ENSP00000340839:p.Ser342Ile					ZC3H12B_ENST00000423889.3_Missense_Mutation_p.S331I	p.S342I	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			4	1092	+			331					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.1025G>T	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345374	0.82022	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.45276	0.9;0.9	5.62	4.73	0.59995	Ribonuclease Zc3h12a-like (1);	0.037102	0.85682	D	0.000000	T	0.55673	0.1935	M	0.62723	1.935	0.49389	D	0.999781	P	0.42483	0.781	P	0.54965	0.765	T	0.57585	-0.7786	10	0.87932	D	0	-1.8553	11.6044	0.51024	0.0924:0.0:0.9076:0.0	.	331	Q5HYM0	ZC12B_HUMAN	I	342;331;278	ENSP00000340839:S342I;ENSP00000408077:S331I	ENSP00000218172:S278I	S	+	2	0	ZC3H12B	64636529	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.333000	0.72939	1.075000	0.40932	0.544000	0.68410	AGC		0.443	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		59	261	1	0	1.42676e-28	0.003610	1.91395e-28	59	261				
CNGB3	54714	broad.mit.edu	37	8	87683282	87683282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr8:87683282G>A	ENST00000320005.5	-	4	430	c.383C>T	c.(382-384)gCc>gTc	p.A128V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	128					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTGGGCATCGGCATACTCATT	0.453																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(382-384)gCc>gTc		cyclic nucleotide gated channel beta 3							211.0	222.0	218.0					8																	87683282		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87683282G>A	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.383C>T	8.37:g.87683282G>A	ENSP00000316605:p.Ala128Val						p.A128V	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			4	430	-			128					C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.383C>T	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023895	0.35701	.	.	ENSG00000170289	ENST00000320005	T	0.61627	0.09	5.68	2.87	0.33458	.	0.379531	0.25941	N	0.027307	T	0.40347	0.1113	L	0.36672	1.1	0.09310	N	1	B	0.16396	0.017	B	0.19148	0.024	T	0.18840	-1.0324	10	0.13108	T	0.6	.	6.9572	0.24578	0.1973:0.0:0.6796:0.123	.	128	Q9NQW8	CNGB3_HUMAN	V	128	ENSP00000316605:A128V	ENSP00000316605:A128V	A	-	2	0	CNGB3	87752398	0.965000	0.33210	0.018000	0.16275	0.909000	0.53808	3.359000	0.52292	0.741000	0.32674	0.591000	0.81541	GCC		0.453	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		6	443	0	0	0	0.001984	0	6	443				
NLGN1	22871	broad.mit.edu	37	3	173997002	173997002	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr3:173997002A>T	ENST00000457714.1	+	6	1640	c.1211A>T	c.(1210-1212)gAt>gTt	p.D404V	NLGN1_ENST00000361589.4_Missense_Mutation_p.D404V|NLGN1_ENST00000401917.3_Missense_Mutation_p.D444V|NLGN1_ENST00000545397.1_Missense_Mutation_p.D404V|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	421					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GATAGCGATGATGGTATATCA	0.328																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1210-1212)gAt>gTt		neuroligin 1							122.0	130.0	128.0					3																	173997002		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173997002A>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1211A>T	3.37:g.173997002A>T	ENSP00000392500:p.Asp404Val					NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.D444V|NLGN1_ENST00000361589.4_Missense_Mutation_p.D404V|NLGN1_ENST00000545397.1_Missense_Mutation_p.D404V	p.D404V	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1640	+	Ovarian(172;0.0025)		421					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1211A>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.691897	0.68271	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.62	5.62	0.85841	.	0.051717	0.85682	D	0.000000	T	0.75347	0.3837	L	0.54323	1.7	0.80722	D	1	D;P	0.53745	0.962;0.804	P;B	0.57776	0.827;0.238	T	0.76812	-0.2821	10	0.54805	T	0.06	.	15.837	0.78805	1.0:0.0:0.0:0.0	.	444;404	D2X2H5;Q8N2Q7-2	.;.	V	404;404;404;444	ENSP00000392500:D404V;ENSP00000354541:D404V;ENSP00000441108:D404V;ENSP00000385750:D444V	ENSP00000354541:D404V	D	+	2	0	NLGN1	175479696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.140000	0.66376	0.460000	0.39030	GAT		0.328	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		4	115	0	0	0	0.000602	0	4	115				
KANSL3	55683	broad.mit.edu	37	2	97267954	97267954	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr2:97267954C>T	ENST00000431828.1	-	19	2457	c.2381G>A	c.(2380-2382)gGt>gAt	p.G794D	KANSL3_ENST00000599854.1_Missense_Mutation_p.G707D|KANSL3_ENST00000487070.1_Intron|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.G614D			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	820					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGGCTTCCCACCAGGAGTGGC	0.617																																						ENST00000599854.1																			0											c.(2119-2121)gGt>gAt		KAT8 regulatory NSL complex subunit 3							35.0	37.0	36.0					2																	97267954		2038	4197	6235	SO:0001583	missense	55683							g.chr2:97267954C>T	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.2381G>A	2.37:g.97267954C>T	ENSP00000396749:p.Gly794Asp					KANSL3_ENST00000487070.1_Intron|KANSL3_ENST00000431828.1_Missense_Mutation_p.G794D|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.G614D	p.G707D	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN			19	2587	-			820		V -> I (in dbSNP:rs34406082).	Ser-rich.		A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.2120G>A	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222133	0.79464	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000440133;ENST00000444759	T;T	0.53423	0.62;0.68	5.66	4.79	0.61399	.	0.118034	0.56097	D	0.000027	T	0.32704	0.0838	N	0.14661	0.345	0.80722	D	1	B;B;B;P;B	0.44139	0.005;0.024;0.008;0.827;0.008	B;B;B;B;B	0.40864	0.003;0.021;0.007;0.342;0.007	T	0.25710	-1.0124	10	0.66056	D	0.02	.	12.3674	0.55236	0.0:0.9182:0.0:0.0818	.	588;820;794;705;680	B4E1W4;Q9P2N6;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;K1310_HUMAN;.;.;.	D	707;680;794;614;588	ENSP00000396749:G794D;ENSP00000406207:G614D	ENSP00000346144:G707D	G	-	2	0	KIAA1310	96631681	0.971000	0.33674	1.000000	0.80357	0.999000	0.98932	4.903000	0.63272	1.392000	0.46585	0.655000	0.94253	GGT		0.617	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		8	17	0	0	0	0.003080	0	8	17				
BORA	79866	broad.mit.edu	37	13	73303185	73303185	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr13:73303185A>C	ENST00000390667.5	+	2	204	c.107A>C	c.(106-108)gAa>gCa	p.E36A	BORA_ENST00000377815.3_Missense_Mutation_p.N2H|MZT1_ENST00000377818.3_5'Flank|BORA_ENST00000464754.1_3'UTR	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	36					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										AATCTCCATGAACAAACTCTC	0.328																																						ENST00000390667.5																			0											c.(106-108)gAa>gCa		bora, aurora kinase A activator							148.0	154.0	152.0					13																	73303185		1795	4071	5866	SO:0001583	missense	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73303185A>C	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.107A>C	13.37:g.73303185A>C	ENSP00000375082:p.Glu36Ala					BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Missense_Mutation_p.N2H	p.E36A	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN			2	204	+			36					B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	ENST00000390667.5	37	c.107A>C	CCDS9446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.968498|3.968498	0.74131|0.74131	.|.	.|.	ENSG00000136122|ENSG00000136122	ENST00000390667|ENST00000377815	T|T	0.33865|0.31769	1.39|1.48	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49133|0.49133	0.1539|0.1539	M|M	0.68952|0.68952	2.095|2.095	0.32293|0.32293	N|N	0.566081|0.566081	P;P;P|D	0.47545|0.60575	0.897;0.897;0.897|0.988	B;B;B|P	0.42214|0.55999	0.38;0.287;0.38|0.789	T|T	0.62258|0.62258	-0.6892|-0.6892	10|9	0.42905|0.66056	T|D	0.14|0.02	-21.6349|-21.6349	15.8816|15.8816	0.79208|0.79208	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	36;96;36|2	A8K631;B5LMG6;Q6PGQ7|B4DQ30	.;.;BORA_HUMAN|.	A|H	36|2	ENSP00000375082:E36A|ENSP00000367046:N2H	ENSP00000375082:E36A|ENSP00000367046:N2H	E|N	+|+	2|1	0|0	BORA|BORA	72201186|72201186	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.794000|8.794000	0.91867|0.91867	2.146000|2.146000	0.66826|0.66826	0.533000|0.533000	0.62120|0.62120	GAA|AAC		0.328	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		61	264	0	0	0	0.003610	0	61	264				
COL24A1	255631	broad.mit.edu	37	1	86590808	86590808	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:86590808G>T	ENST00000370571.2	-	3	1577	c.1211C>A	c.(1210-1212)aCa>aAa	p.T404K	COL24A1_ENST00000436319.1_Missense_Mutation_p.T404K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	404					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTAGTAATTGTATCTTGTTT	0.348																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(1210-1212)aCa>aAa		collagen, type XXIV, alpha 1							130.0	112.0	118.0					1																	86590808		1880	4098	5978	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590808G>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1211C>A	1.37:g.86590808G>T	ENSP00000359603:p.Thr404Lys					COL24A1_ENST00000436319.1_Missense_Mutation_p.T404K	p.T404K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1577	-			404					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1211C>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	4.270	0.049118	0.08243	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.16196	2.36;2.36	5.45	-1.8	0.07907	.	0.644541	0.12949	N	0.425928	T	0.01592	0.0051	N	0.17082	0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44982	-0.9292	10	0.06891	T	0.86	.	2.4757	0.04575	0.1637:0.1017:0.2126:0.522	.	404;404	F8WDM8;Q17RW2	.;COOA1_HUMAN	K	404	ENSP00000359603:T404K;ENSP00000392531:T404K	ENSP00000359603:T404K	T	-	2	0	COL24A1	86363396	0.000000	0.05858	0.000000	0.03702	0.659000	0.38960	0.507000	0.22675	-0.015000	0.14150	0.563000	0.77884	ACA		0.348	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		14	61	1	0	2.62699e-14	0.003163	3.3601e-14	14	61				
FCGR1A	2209	broad.mit.edu	37	1	149755784	149755784	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:149755784G>A	ENST00000369168.4	+	3	332	c.278G>A	c.(277-279)aGt>aAt	p.S93N	RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	93	Ig-like C2-type 1.				antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCAGGGCGAAGTGACCCCATA	0.547																																						ENST00000369168.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10						c.(277-279)aGt>aAt		Fc fragment of IgG, high affinity Ia, receptor (CD64)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						17.0	22.0	20.0					1																	149755784		1722	3574	5296	SO:0001583	missense	2209				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity	g.chr1:149755784G>A	BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.278G>A	1.37:g.149755784G>A	ENSP00000358165:p.Ser93Asn					HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.21_ENST00000420462.1_RNA	p.S93N	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN			3	332	+	Breast(34;0.0124)|all_hematologic(923;0.127)		93			Ig-like C2-type 1.		P12315|Q5QNW7|Q92495|Q92663	Missense_Mutation	SNP	ENST00000369168.4	37	c.278G>A	CCDS933.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539672	0.27563	.	.	ENSG00000150337	ENST00000369168	T	0.19806	2.12	3.13	3.13	0.36017	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000008	T	0.48333	0.1494	H	0.96111	3.77	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	T	0.62464	-0.6849	10	0.87932	D	0	.	10.4383	0.44450	0.0:0.0:1.0:0.0	.	93	P12314	FCGR1_HUMAN	N	93	ENSP00000358165:S93N	ENSP00000358165:S93N	S	+	2	0	FCGR1A	148022408	1.000000	0.71417	0.969000	0.41365	0.266000	0.26442	4.285000	0.58989	1.700000	0.51204	0.411000	0.27672	AGT		0.547	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033446.1	NM_000566		30	105	0	0	0	0.004289	0	30	105				
FASTKD1	79675	broad.mit.edu	37	2	170428527	170428527	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr2:170428527G>C	ENST00000453153.2	-	2	359	c.13C>G	c.(13-15)Cct>Gct	p.P5A	FASTKD1_ENST00000453929.2_Missense_Mutation_p.P5A	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	5					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AGGAAAACAGGTGTTTTTTTC	0.373																																						ENST00000453153.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						c.(13-15)Cct>Gct		FAST kinase domains 1							40.0	41.0	41.0					2																	170428527		2201	4298	6499	SO:0001583	missense	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170428527G>C	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.13C>G	2.37:g.170428527G>C	ENSP00000400513:p.Pro5Ala					FASTKD1_ENST00000453929.2_Missense_Mutation_p.P5A	p.P5A	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN			2	359	-			5					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	c.13C>G	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	G	2.346	-0.350087	0.05173	.	.	ENSG00000138399	ENST00000453153;ENST00000453929;ENST00000438035;ENST00000445210	T;T	0.20200	2.12;2.09	4.13	-0.455	0.12193	.	3.421720	0.01001	N	0.003666	T	0.13372	0.0324	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.22661	-1.0210	10	0.33940	T	0.23	.	6.7583	0.23526	0.6351:0.0:0.3649:0.0	.	5	Q53R41	FAKD1_HUMAN	A	5	ENSP00000400513:P5A;ENSP00000403229:P5A	ENSP00000396769:P5A	P	-	1	0	FASTKD1	170136773	0.055000	0.20627	0.000000	0.03702	0.013000	0.08279	2.735000	0.47377	0.015000	0.14971	0.585000	0.79938	CCT		0.373	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		10	41	0	0	0	0.006214	0	10	41				
RADIL	55698	broad.mit.edu	37	7	4855893	4855893	+	Silent	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr7:4855893G>A	ENST00000399583.3	-	8	2119	c.1932C>T	c.(1930-1932)tcC>tcT	p.S644S	RADIL_ENST00000538469.1_Silent_p.S404S|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	644	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCAGTGTCCCGGAGAAGAAGA	0.657																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1930-1932)tcC>tcT		Ras association and DIL domains							30.0	39.0	36.0					7																	4855893		2023	4165	6188	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4855893G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1932C>T	7.37:g.4855893G>A						RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Silent_p.S404S	p.S644S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	8	2119	-		Ovarian(82;0.0175)	644			Dilute.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.1932C>T	CCDS43544.1																																																																																				0.657	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		16	49	0	0	0	0.006122	0	16	49				
MXRA5	25878	broad.mit.edu	37	X	3240116	3240116	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:3240116C>T	ENST00000217939.6	-	5	3764	c.3610G>A	c.(3610-3612)Gct>Act	p.A1204T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1204						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCACCCAAGCTGTAGGAACC	0.458																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(3610-3612)Gct>Act		matrix-remodelling associated 5							119.0	112.0	115.0					X																	3240116		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240116C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3610G>A	X.37:g.3240116C>T	ENSP00000217939:p.Ala1204Thr						p.A1204T	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	3764	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1204					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3610G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	0.491	-0.875554	0.02550	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62639	0.01	3.34	-6.67	0.01783	.	1.462580	0.05111	N	0.488988	T	0.30603	0.0770	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33523	-0.9865	10	0.05620	T	0.96	.	2.0268	0.03520	0.2679:0.2281:0.3799:0.1241	.	1204	Q9NR99	MXRA5_HUMAN	T	1204	ENSP00000217939:A1204T	ENSP00000217939:A1204T	A	-	1	0	MXRA5	3250116	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.235000	0.02928	-2.092000	0.00857	-0.554000	0.04202	GCT		0.458	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		5	182	0	0	0	0.000602	0	5	182				
SERPINB12	89777	broad.mit.edu	37	18	61225658	61225658	+	Splice_Site	SNP	A	A	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr18:61225658A>T	ENST00000269491.1	+	2	242	c.242A>T	c.(241-243)aAa>aTa	p.K81I	SERPINB12_ENST00000382768.1_Missense_Mutation_p.K81I	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	81					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AACAAACAAAAAGTGCTGGCT	0.463																																						ENST00000382768.1																			0				kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(241-243)aAa>aTa		serpin peptidase inhibitor, clade B (ovalbumin), member 12							68.0	68.0	68.0					18																	61225658		2203	4300	6503	SO:0001630	splice_region_variant	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61225658A>T	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.243+1A>T	18.37:g.61225658A>T						SERPINB12_ENST00000269491.1_Splice_Site_p.K81_splice	p.K81I			Q96P63	SPB12_HUMAN			2	242	+			81					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.242A>T	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.685924	0.29962	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84589	-1.85;-1.87	5.2	1.44	0.22558	Serpin domain (3);	2.426480	0.01650	N	0.024503	T	0.76162	0.3949	N	0.19112	0.55	0.09310	N	1	B;B	0.19935	0.04;0.04	B;B	0.22152	0.038;0.038	T	0.60919	-0.7167	10	0.49607	T	0.09	.	4.1361	0.10170	0.6199:0.1868:0.1933:0.0	.	81;81	Q3SYB4;Q96P63	.;SPB12_HUMAN	I	81	ENSP00000269491:K81I;ENSP00000372218:K81I	ENSP00000269491:K81I	K	+	2	0	SERPINB12	59376638	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.334000	0.19787	0.013000	0.14918	0.460000	0.39030	AAA		0.463	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474	Missense_Mutation	23	76	0	0	0	0.004656	0	23	76				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		7	78	0	0	0	0.003080	0	7	78				
AZIN2	113451	broad.mit.edu	37	1	33560160	33560160	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:33560160G>C	ENST00000294517.6	+	8	1186	c.599G>C	c.(598-600)gGc>gCc	p.G200A	ADC_ENST00000373440.1_Intron|ADC_ENST00000373443.3_Missense_Mutation_p.G200A|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Missense_Mutation_p.G200A|ADC_ENST00000373441.1_Missense_Mutation_p.G200A|ADC_ENST00000358680.3_Intron	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		200					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	TTTCACATTGGCAGTGGCTGT	0.587																																						ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(598-600)gGc>gCc		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)						72.0	69.0	70.0					1																	33560160		2203	4300	6503	SO:0001583	missense	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33560160G>C																												ENST00000294517.6:c.599G>C	1.37:g.33560160G>C	ENSP00000294517:p.Gly200Ala					ADC_ENST00000373443.3_Missense_Mutation_p.G200A|ADC_ENST00000358680.3_Intron|ADC_ENST00000373440.1_Intron|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Missense_Mutation_p.G200A|ADC_ENST00000398167.1_Missense_Mutation_p.G200A	p.G200A	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			8	1186	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	200					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	c.599G>C	CCDS375.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204294	0.79127	.	.	ENSG00000142920	ENST00000294517;ENST00000341637;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.64085	-0.08;-0.08;0.06;0.06	5.23	4.32	0.51571	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.142769	0.48767	D	0.000172	T	0.78336	0.4267	H	0.96015	3.755	0.80722	D	1	D;D;D;P	0.57571	0.97;0.976;0.98;0.951	P;P;P;P	0.49451	0.537;0.6;0.611;0.611	D	0.84828	0.0800	10	0.59425	D	0.04	-11.97	12.9244	0.58252	0.0804:0.0:0.9196:0.0	.	200;200;105;200	Q96A70-2;Q96A70-3;D3DPR0;Q96A70	.;.;.;ADC_HUMAN	A	200;212;200;200;200	ENSP00000294517:G200A;ENSP00000362542:G200A;ENSP00000381233:G200A;ENSP00000362540:G200A	ENSP00000294517:G200A	G	+	2	0	ADC	33332747	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	5.364000	0.66110	1.354000	0.45846	0.591000	0.81541	GGC		0.587	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			24	90	0	0	0	0.003330	0	24	90				
AHNAK2	113146	broad.mit.edu	37	14	105413659	105413659	+	Missense_Mutation	SNP	C	C	T	rs572748733		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr14:105413659C>T	ENST00000333244.5	-	7	8248	c.8129G>A	c.(8128-8130)gGc>gAc	p.G2710D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2710						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCCACCTGGCCAGCCTGGAC	0.607													.|||	1	0.000199681	0.0	0.0	5008	,	,		17345	0.0		0.0	False		,,,				2504	0.001					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8128-8130)gGc>gAc		AHNAK nucleoprotein 2							134.0	148.0	144.0					14																	105413659		1947	4130	6077	SO:0001583	missense	113146					nucleus		g.chr14:105413659C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8129G>A	14.37:g.105413659C>T	ENSP00000353114:p.Gly2710Asp					AHNAK2_ENST00000557457.1_Intron	p.G2710D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8248	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2710					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8129G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	9.161	1.018698	0.19355	.	.	ENSG00000185567	ENST00000333244	T	0.06068	3.35	2.96	-4.43	0.03568	.	.	.	.	.	T	0.13415	0.0325	M	0.69823	2.125	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.08534	-1.0717	9	0.17369	T	0.5	-6.5419	1.4652	0.02404	0.1941:0.2895:0.3212:0.1952	.	2710	Q8IVF2	AHNK2_HUMAN	D	2710	ENSP00000353114:G2710D	ENSP00000353114:G2710D	G	-	2	0	AHNAK2	104484704	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.030000	0.03581	-1.386000	0.02098	-2.281000	0.00270	GGC		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		88	234	0	0	0	0.003610	0	88	234				
LY9	4063	broad.mit.edu	37	1	160783602	160783602	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:160783602C>T	ENST00000263285.6	+	3	661	c.631C>T	c.(631-633)Cga>Tga	p.R211*	LY9_ENST00000341032.4_Nonsense_Mutation_p.R211*|LY9_ENST00000368041.2_Nonsense_Mutation_p.R171*|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000392203.4_Nonsense_Mutation_p.R211*|LY9_ENST00000368037.5_Nonsense_Mutation_p.R211*|LY9_ENST00000471816.1_3'UTR			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	211	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TACCGTCTCCCGAACACCATG	0.572																																						ENST00000263285.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(631-633)Cga>Tga		lymphocyte antigen 9							173.0	166.0	168.0					1																	160783602		2203	4300	6503	SO:0001587	stop_gained	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160783602C>T	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.631C>T	1.37:g.160783602C>T	ENSP00000263285:p.Arg211*					LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Nonsense_Mutation_p.R171*|LY9_ENST00000341032.4_Nonsense_Mutation_p.R211*|LY9_ENST00000368040.1_5'UTR	p.R211*	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	661	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		211			Ig-like C2-type 1.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Nonsense_Mutation	SNP	ENST00000263285.6	37	c.631C>T	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438466	0.25900	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000392203;ENST00000368037;ENST00000368036	.	.	.	4.12	0.45	0.16624	.	0.819622	0.10833	N	0.629067	.	.	.	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0638	6.1715	0.20421	0.0:0.49:0.0:0.51	.	.	.	.	X	211;211;211;211;171;171;113	.	ENSP00000263285:R211X	R	+	1	2	LY9	159050226	0.001000	0.12720	0.001000	0.08648	0.021000	0.10359	-0.213000	0.09305	0.000000	0.14550	0.557000	0.71058	CGA		0.572	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		65	266	0	0	0	0.003610	0	65	266				
BTNL8	79908	broad.mit.edu	37	5	180338425	180338425	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:180338425C>T	ENST00000340184.4	+	3	690	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	BTNL8_ENST00000511704.1_Missense_Mutation_p.R46W|BTNL8_ENST00000508408.1_Missense_Mutation_p.R162W|Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000400707.3_Missense_Mutation_p.R37W|BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000231229.4_Missense_Mutation_p.R162W|BTNL8_ENST00000505126.1_5'UTR	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	162	Ig-like V-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGTTCCCCCGGCCCACAGC	0.527																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(484-486)Cgg>Tgg		butyrophilin-like 8							158.0	171.0	167.0					5																	180338425		2203	4296	6499	SO:0001583	missense	79908					integral to membrane		g.chr5:180338425C>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.484C>T	5.37:g.180338425C>T	ENSP00000342197:p.Arg162Trp					BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000340184.4_Missense_Mutation_p.R162W|BTNL8_ENST00000400707.3_Missense_Mutation_p.R37W|BTNL8_ENST00000508408.1_Missense_Mutation_p.R162W|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.R46W	p.R162W	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	718	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	162			Ig-like V-type 2.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.484C>T	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517006	0.44763	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704	T;T;T;T;T	0.06933	3.24;3.24;3.24;3.24;3.24	3.86	-7.72	0.01250	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14442	0.0349	L	0.42245	1.32	0.09310	N	0.999999	D;D;D;D;D	0.89917	0.993;0.993;1.0;0.999;0.989	P;P;P;P;P	0.61874	0.539;0.672;0.895;0.841;0.522	T	0.22906	-1.0203	9	0.87932	D	0	.	10.9616	0.47389	0.7563:0.1597:0.0:0.084	.	37;46;162;162;162	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	W	162;162;37;162;46	ENSP00000231229:R162W;ENSP00000342197:R162W;ENSP00000383543:R37W;ENSP00000424585:R162W;ENSP00000425207:R46W	ENSP00000231229:R162W	R	+	1	2	BTNL8	180271031	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	-2.569000	0.00915	-2.537000	0.00488	0.205000	0.17691	CGG		0.527	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		80	358	0	0	0	0.003610	0	80	358				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			0							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			7	15						7	15	---	---	---	---
ERBB2IP	55914	broad.mit.edu	37	5	65349867	65349867	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:65349867delA	ENST00000284037.5	+	21	3110	c.2721delA	c.(2719-2721)ggafs	p.G907fs	ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	907					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CTGTTGATGGAAAAAATATAG	0.378																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(2719-2721)ggfs		erbb2 interacting protein							571.0	551.0	558.0					5																	65349867		2203	4300	6503	SO:0001589	frameshift_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65349867delA		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2721delA	5.37:g.65349867delA	ENSP00000284037:p.Gly907fs					ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron	p.G907fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3110	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	907					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Frame_Shift_Del	DEL	ENST00000284037.5	37	c.2721delA	CCDS58953.1																																																																																				0.378	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		7	2068						7	2068	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs548576417|rs552289081|rs56022003	byFrequency	TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr11:89106662_89106663insA	ENST00000263317.4	-	12	1313		c.e12-2		NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													?|AAAAAAAAA|AAAAAAAAAA|unsure	31	0.0061901	0.0227	0.0014	5008	,	,		14064	0.0		0.0	False		,,,				2504	0.0					ENST00000535633.1																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e12-2		NADPH oxidase 4			,,	92,4164		2,88,2038					,,	5.2	1.0		dbSNP_129	80	7,8213		0,7,4103	no	splice-3,splice-3,splice-3	NOX4	NM_016931.3,NM_001143837.1,NM_001143836.1	,,	2,95,6141	A1A1,A1R,RR		0.0852,2.1617,0.7935	,,	,,		99,12377				SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89106662_89106663insA	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1075-2->T	11.37:g.89106671_89106671dupA						NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site		NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			12	1313	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	INS	ENST00000263317.4	37		CCDS8285.1																																																																																				0.292	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	9	206						9	206	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438																																						ENST00000429810.2																			0																																																			0							g.chr16:74372915delT																													16.37:g.74372915delT														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.438	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			5	10						5	10	---	---	---	---
C17orf82	388407	broad.mit.edu	37	17	59489871	59489877	+	Frame_Shift_Del	DEL	GGCCTCG	GGCCTCG	-	rs201168857	byFrequency	TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr17:59489871_59489877delGGCCTCG	ENST00000335108.2	+	1	760_766	c.535_541delGGCCTCG	c.(535-543)ggcctcgggfs	p.GLG179fs	RP11-332H18.4_ENST00000592009.1_RNA	NM_203425.1	NP_982249	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	179										cervix(1)|lung(1)	2						AGCCCGCCCAGGCCTCGGGCCTCGGCA	0.734														18	0.00359425	0.0	0.0072	5008	,	,		13586	0.0		0.0099	False		,,,				2504	0.0031					ENST00000335108.2																			0				cervix(1)|lung(1)	2						c.(535-543)ggfs		chromosome 17 open reading frame 82				15,3697		5,5,1846						-5.8	0.0			6	89,7483		12,65,3709	no	frameshift	C17orf82	NM_203425.1		17,70,5555	A1A1,A1R,RR		1.1754,0.4041,0.9217				104,11180				SO:0001589	frameshift_variant	388407							g.chr17:59489871_59489877delGGCCTCG	BC046200	CCDS11628.1	17q23.2	2012-10-23			ENSG00000187013	ENSG00000187013			32699	protein-coding gene	gene with protein product							Standard	NM_203425		Approved		uc002izh.1	Q86X59	OTTHUMG00000180077	ENST00000335108.2:c.535_541delGGCCTCG	17.37:g.59489878_59489884delGGCCTCG	ENSP00000335229:p.Gly179fs						p.GLG179fs	NM_203425.1	NP_982249.1	Q86X59	CQ082_HUMAN			1	760_766	+			179						Frame_Shift_Del	DEL	ENST00000335108.2	37	c.535_541delGGCCTCG	CCDS11628.1																																																																																				0.734	C17orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449646.1	NM_203425		4	4						4	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76939056	76939060	+	Frame_Shift_Del	DEL	ATTTA	ATTTA	-			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:76939056_76939060delATTTA	ENST00000373344.5	-	9	1902_1906	c.1688_1692delTAAAT	c.(1687-1692)ttaaatfs	p.LN563fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.LN525fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	563					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTGAAGAAATATTTAATTTTACAGA	0.351			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1687-1692)tfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			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:76939056_76939060delATTTA	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.1688_1692delTAAAT	X.37:g.76939056_76939060delATTTA	ENSP00000362441:p.Leu563fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.LN525fs|ATRX_ENST00000480283.1_5'UTR	p.LN563fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1902_1906	-			563					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1688_1692delTAAAT	CCDS14434.1																																																																																				0.351	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		75	356						75	356	---	---	---	---
