#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
C12orf42	374470	broad.mit.edu	37	12	103700092	103700092	+	Silent	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr12:103700092C>T	ENST00000378113.2	-	5	516	c.291G>A	c.(289-291)gcG>gcA	p.A97A	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Silent_p.A97A|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Silent_p.A30A	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	97								p.A97A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GTCTTTTACACGCCATTGAAT	0.378																																						ENST00000548048.1																			1	Substitution - coding silent(1)	p.A97A(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(88-90)gcG>gcA		chromosome 12 open reading frame 42							48.0	48.0	48.0					12																	103700092		1828	4092	5920	SO:0001819	synonymous_variant	374470							g.chr12:103700092C>T	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.291G>A	12.37:g.103700092C>T						C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Silent_p.A97A|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Silent_p.A97A	p.A30A			Q96LP6	CL042_HUMAN			8	586	-			97					Q49A64|Q4G0S2	Silent	SNP	ENST00000378113.2	37	c.90G>A	CCDS44963.1																																																																																				0.378	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		3	17	0	0	0	1	0	3	17				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000413193.2_Splice_Site_p.H228R|AGAP10_ENST00000355232.3_Splice_Site_p.H157R|RP11-144G6.12_ENST00000605970.1_RNA			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	3	40	0	0	0	1	0	3	40				
MCC	4163	broad.mit.edu	37	5	112437491	112437491	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr5:112437491C>T	ENST00000302475.4	-	6	1336	c.773G>A	c.(772-774)cGg>cAg	p.R258Q	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.R448Q|MCC_ENST00000515367.2_Missense_Mutation_p.R195Q	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	258					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGCCTTAGTCCGGTTCAGTTC	0.597																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(772-774)cGg>cAg		mutated in colorectal cancers							144.0	136.0	139.0					5																	112437491		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112437491C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.773G>A	5.37:g.112437491C>T	ENSP00000305617:p.Arg258Gln					MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.R195Q|MCC_ENST00000408903.3_Missense_Mutation_p.R448Q	p.R258Q	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	6	1336	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	258					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.773G>A	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357808	0.82243	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.40225	1.04;1.04;1.04	5.4	5.4	0.78164	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	N	0.12182	0.205	0.58432	D	0.999997	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.70227	0.968;0.968;0.964;0.968	T	0.38457	-0.9660	10	0.18710	T	0.47	-28.2816	19.5418	0.95277	0.0:1.0:0.0:0.0	.	258;220;448;258	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	Q	258;195;448	ENSP00000305617:R258Q;ENSP00000421615:R195Q;ENSP00000386227:R448Q	ENSP00000305617:R258Q	R	-	2	0	MCC	112465390	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.180000	0.71981	2.684000	0.91462	0.655000	0.94253	CGG		0.597	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		8	69	0	0	0	1	0	8	69				
STEAP3	55240	broad.mit.edu	37	2	120005702	120005702	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr2:120005702G>A	ENST00000354888.5	+	4	1444	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393108.2_Missense_Mutation_p.A314T|STEAP3_ENST00000450943.2_Missense_Mutation_p.A314T|STEAP3_ENST00000393106.2_Missense_Mutation_p.A314T|STEAP3_ENST00000409811.1_Missense_Mutation_p.A314T|STEAP3_ENST00000425223.2_Missense_Mutation_p.A314T|STEAP3_ENST00000393107.2_Missense_Mutation_p.A314T|STEAP3_ENST00000393110.2_Missense_Mutation_p.A324T	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	314	Ferric oxidoreductase.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CTTCTGCGCCGCCCTGCACGC	0.672																																						ENST00000354888.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(940-942)Gcc>Acc		STEAP family member 3, metalloreductase							31.0	28.0	29.0					2																	120005702		2193	4285	6478	SO:0001583	missense	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120005702G>A	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.940G>A	2.37:g.120005702G>A	ENSP00000346961:p.Ala314Thr					STEAP3_ENST00000450943.2_Missense_Mutation_p.A314T|STEAP3_ENST00000409811.1_Missense_Mutation_p.A314T|STEAP3_ENST00000425223.2_Missense_Mutation_p.A314T|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393108.2_Missense_Mutation_p.A314T|STEAP3_ENST00000393110.2_Missense_Mutation_p.A324T|STEAP3_ENST00000393107.2_Missense_Mutation_p.A314T|STEAP3_ENST00000393106.2_Missense_Mutation_p.A314T	p.A314T	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN			4	1444	+			314			Ferric oxidoreductase.		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.940G>A	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908504	0.33721	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	D;D;D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	4.49	1.65	0.23941	Flavoprotein transmembrane component (1);	0.383991	0.25561	N	0.029821	T	0.79452	0.4448	N	0.19112	0.55	0.23831	N	0.99672	B;B;B	0.17268	0.021;0.011;0.008	B;B;B	0.21917	0.037;0.008;0.005	T	0.63278	-0.6673	9	.	.	.	-13.6584	5.3892	0.16234	0.1635:0.0:0.5827:0.2538	.	314;324;314	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	T	314;314;314;324;314;314;314;314	ENSP00000376820:A314T;ENSP00000346961:A314T;ENSP00000396873:A314T;ENSP00000376822:A324T;ENSP00000376818:A314T;ENSP00000386510:A314T;ENSP00000376819:A314T;ENSP00000396214:A314T	.	A	+	1	0	STEAP3	119722172	0.001000	0.12720	0.965000	0.40720	0.985000	0.73830	0.893000	0.28336	0.657000	0.30906	0.462000	0.41574	GCC		0.672	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		3	26	0	0	0	1	0	3	26				
SI	6476	broad.mit.edu	37	3	164714349	164714349	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr3:164714349T>C	ENST00000264382.3	-	40	4728	c.4666A>G	c.(4666-4668)Agg>Ggg	p.R1556G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1556	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTGTGATTCCTTGAGTATGGA	0.353										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4666-4668)Agg>Ggg		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						86.0	84.0	85.0					3																	164714349		2202	4297	6499	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164714349T>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4666A>G	3.37:g.164714349T>C	ENSP00000264382:p.Arg1556Gly	HNSCC(35;0.089)					p.R1556G	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			40	4728	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1556			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4666A>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.903715	0.52333	.	.	ENSG00000090402	ENST00000264382	D	0.95307	-3.67	4.69	3.49	0.39957	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98175	0.9397	H	0.98487	4.245	0.46954	D	0.999261	D	0.89917	1.0	D	0.97110	1.0	D	0.97869	1.0285	10	0.87932	D	0	.	10.9061	0.47081	0.0:0.0:0.2982:0.7018	.	1556	P14410	SUIS_HUMAN	G	1556	ENSP00000264382:R1556G	ENSP00000264382:R1556G	R	-	1	2	SI	166197043	1.000000	0.71417	0.970000	0.41538	0.769000	0.43574	3.046000	0.49846	0.894000	0.36317	0.477000	0.44152	AGG		0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		54	146	0	0	0	1	0	54	146				
PMPCA	23203	broad.mit.edu	37	9	139313550	139313550	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr9:139313550G>A	ENST00000371717.3	+	11	1264	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	PMPCA_ENST00000399219.3_Missense_Mutation_p.V288M|PMPCA_ENST00000462616.1_3'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	419					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GGGCGGAACCGTGGACACGGT	0.557																																						ENST00000371717.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(1255-1257)Gtg>Atg		peptidase (mitochondrial processing) alpha							101.0	100.0	100.0					9																	139313550		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139313550G>A	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.1255G>A	9.37:g.139313550G>A	ENSP00000360782:p.Val419Met					PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.V288M	p.V419M	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	11	1264	+		Myeloproliferative disorder(178;0.0821)	419					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.1255G>A	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398706	0.42512	.	.	ENSG00000165688	ENST00000371717;ENST00000399219;ENST00000444897	T;T;T	0.09255	3.0;3.0;3.0	4.91	4.91	0.64330	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.165226	0.53938	D	0.000060	T	0.29652	0.0740	M	0.74881	2.28	0.41765	D	0.989733	D;D;D;D	0.69078	0.973;0.986;0.997;0.986	P;P;D;P	0.66847	0.625;0.833;0.947;0.833	T	0.01739	-1.1284	10	0.66056	D	0.02	.	11.242	0.48974	0.0884:0.0:0.9116:0.0	.	288;419;127;419	B4DKL3;Q5SXM9;Q5SXN9;Q10713	.;.;.;MPPA_HUMAN	M	419;288;127	ENSP00000360782:V419M;ENSP00000416702:V288M;ENSP00000408393:V127M	ENSP00000360782:V419M	V	+	1	0	PMPCA	138433371	1.000000	0.71417	0.862000	0.33874	0.005000	0.04900	4.008000	0.57103	2.428000	0.82296	0.655000	0.94253	GTG		0.557	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		32	47	0	0	0	1	0	32	47				
SRCAP	10847	broad.mit.edu	37	16	30732587	30732587	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr16:30732587C>T	ENST00000262518.4	+	21	3716	c.3331C>T	c.(3331-3333)Cct>Tct	p.P1111S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1111S|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1111	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCAACACCACCTGCCCCAGT	0.632																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(3331-3333)Cct>Tct		Snf2-related CREBBP activator protein							115.0	122.0	120.0					16																	30732587		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30732587C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3331C>T	16.37:g.30732587C>T	ENSP00000262518:p.Pro1111Ser					SRCAP_ENST00000395059.2_Missense_Mutation_p.P1111S|SRCAP_ENST00000344771.4_Intron	p.P1111S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		21	3716	+			1111			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.3331C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027531	0.35797	.	.	ENSG00000080603	ENST00000262518;ENST00000395059	D;D	0.91740	-2.9;-2.74	5.36	5.36	0.76844	.	.	.	.	.	D	0.86514	0.5951	N	0.14661	0.345	0.80722	D	1	P;P	0.45715	0.865;0.787	B;B	0.43478	0.421;0.241	D	0.86680	0.1916	9	0.37606	T	0.19	-9.5073	16.1243	0.81382	0.0:1.0:0.0:0.0	.	1111;1111	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	1111	ENSP00000262518:P1111S;ENSP00000378499:P1111S	ENSP00000262518:P1111S	P	+	1	0	SRCAP	30640088	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.886000	0.63149	2.788000	0.95919	0.557000	0.71058	CCT		0.632	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		22	54	0	0	0	1	0	22	54				
WDFY3	23001	broad.mit.edu	37	4	85656271	85656271	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr4:85656271C>A	ENST00000295888.4	-	43	7325	c.6918G>T	c.(6916-6918)gaG>gaT	p.E2306D	WDFY3_ENST00000322366.6_Missense_Mutation_p.E2306D	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2306	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACTGCGAAATCTCCTAACAAT	0.299																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(6916-6918)gaG>gaT		WD repeat and FYVE domain containing 3							105.0	101.0	102.0					4																	85656271		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85656271C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.6918G>T	4.37:g.85656271C>A	ENSP00000295888:p.Glu2306Asp					WDFY3_ENST00000295888.4_Missense_Mutation_p.E2306D	p.E2306D			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	43	7325	-		Hepatocellular(203;0.114)	2306					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.6918G>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911740	0.33721	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.63913	-0.07;-0.0	5.5	4.67	0.58626	.	0.047781	0.85682	D	0.000000	T	0.39627	0.1085	N	0.25286	0.73	0.58432	D	0.999999	B	0.33000	0.393	B	0.26770	0.073	T	0.23547	-1.0185	10	0.11182	T	0.66	.	8.3787	0.32457	0.0:0.7595:0.0:0.2405	.	2306	Q8IZQ1	WDFY3_HUMAN	D	2306	ENSP00000318466:E2306D;ENSP00000295888:E2306D	ENSP00000295888:E2306D	E	-	3	2	WDFY3	85875295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.949000	0.29109	1.557000	0.49525	0.655000	0.94253	GAG		0.299	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		18	38	1	0	0.00074312	1	0.000774742	18	38				
GALNT15	117248	broad.mit.edu	37	3	16237352	16237352	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr3:16237352C>T	ENST00000339732.5	+	2	1128	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	GALNT15_ENST00000437509.1_Missense_Mutation_p.R209W	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	209	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CACTCTCCTGCGGACTGTACA	0.607																																						ENST00000339732.5																			0											c.(625-627)Cgg>Tgg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							103.0	77.0	86.0					3																	16237352		2203	4300	6503	SO:0001583	missense	117248							g.chr3:16237352C>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.625C>T	3.37:g.16237352C>T	ENSP00000344260:p.Arg209Trp					GALNT15_ENST00000437509.1_Missense_Mutation_p.R209W	p.R209W	NM_054110.4	NP_473451.3					2	1128	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.625C>T	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	c	19.06	3.753121	0.69648	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.63913	-0.07;-0.07	4.88	3.72	0.42706	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.86024	0.5834	H	0.98682	4.3	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.88998	0.3419	10	0.87932	D	0	.	11.9178	0.52776	0.8539:0.1461:0.0:0.0	.	209	Q8N3T1	GLTL2_HUMAN	W	209	ENSP00000344260:R209W;ENSP00000395873:R209W	ENSP00000344260:R209W	R	+	1	2	GALNTL2	16212356	1.000000	0.71417	0.995000	0.50966	0.944000	0.59088	1.566000	0.36396	0.715000	0.32103	-0.387000	0.06579	CGG		0.607	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		3	42	0	0	0	1	0	3	42				
DNAH17	8632	broad.mit.edu	37	17	76457691	76457691	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:76457691C>T	ENST00000585328.1	-	58	9383	c.9259G>A	c.(9259-9261)Gag>Aag	p.E3087K	DNAH17_ENST00000389840.5_Missense_Mutation_p.E3078K|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3078	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTGACCTTCTCGGCCTCGATG	0.542																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9232-9234)Gag>Aag		dynein, axonemal, heavy chain 17																																				SO:0001583	missense	8632							g.chr17:76457691C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9259G>A	17.37:g.76457691C>T	ENSP00000465516:p.Glu3087Lys					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E3087K	p.E3078K					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		58	9356	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.9232G>A		.	.	.	.	.	.	.	.	.	.	C	17.47	3.398430	0.62177	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.77489	-1.1	4.35	4.35	0.52113	.	0.788560	0.09927	U	0.737642	T	0.79598	0.4473	L	0.56124	1.755	0.44711	D	0.997705	P	0.46277	0.875	P	0.45428	0.48	T	0.79227	-0.1890	10	0.62326	D	0.03	.	16.4756	0.84131	0.0:1.0:0.0:0.0	.	3087	E7EUM8	.	K	3087;3078	ENSP00000374490:E3078K	ENSP00000300671:E3087K	E	-	1	0	DNAH17	73969286	1.000000	0.71417	0.958000	0.39756	0.354000	0.29330	4.528000	0.60580	1.960000	0.56953	0.563000	0.77884	GAG		0.542	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		8	15	0	0	0	1	0	8	15				
RBM12	10137	broad.mit.edu	37	20	34240454	34240454	+	Silent	SNP	A	A	G			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr20:34240454A>G	ENST00000374114.3	-	3	3054	c.2791T>C	c.(2791-2793)Tta>Cta	p.L931L	RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Silent_p.L931L|RBM12_ENST00000359646.1_Silent_p.L931L|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	931	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGCTACCCTAATACAAGTTTT	0.403																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2791-2793)Tta>Cta		RNA binding motif protein 12							84.0	83.0	83.0					20																	34240454		2203	4300	6503	SO:0001819	synonymous_variant	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34240454A>G	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2791T>C	20.37:g.34240454A>G						RBM12_ENST00000359646.1_Silent_p.L931L|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Silent_p.L931L|CPNE1_ENST00000397445.1_Intron	p.L931L	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	3054	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		931			RRM 3.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	c.2791T>C	CCDS13261.1																																																																																				0.403	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		11	77	0	0	0	1	0	11	77				
TENM4	26011	broad.mit.edu	37	11	78380123	78380123	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr11:78380123C>A	ENST00000278550.7	-	32	7729	c.7267G>T	c.(7267-7269)Gtg>Ttg	p.V2423L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2423					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CCGGCCAGCACATCATAATCT	0.498																																						ENST00000278550.7																			0											c.(7267-7269)Gtg>Ttg		teneurin transmembrane protein 4							80.0	81.0	80.0					11																	78380123		2047	4176	6223	SO:0001583	missense	26011							g.chr11:78380123C>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7267G>T	11.37:g.78380123C>A	ENSP00000278550:p.Val2423Leu						p.V2423L	NM_001098816.2	NP_001092286.2					32	7729	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7267G>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060133	0.76074	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89617	-2.54;0.95	5.67	4.75	0.60458	Rhs repeat-associated core (1);	0.000000	0.85682	D	0.000000	D	0.92835	0.7721	M	0.65498	2.005	0.58432	D	0.999997	D	0.64830	0.994	D	0.70716	0.97	D	0.92020	0.5625	9	.	.	.	.	14.0324	0.64624	0.0:0.9283:0.0:0.0717	.	2423	Q6N022	TEN4_HUMAN	L	2423;887	ENSP00000278550:V2423L;ENSP00000431711:V887L	.	V	-	1	0	ODZ4	78057771	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.073000	0.57570	2.677000	0.91161	0.655000	0.94253	GTG		0.498	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			8	19	1	0	3.09899e-07	1	3.37445e-07	8	19				
CROCCP2	84809	broad.mit.edu	37	1	16956534	16956534	+	lincRNA	SNP	C	C	T	rs572780641	byFrequency	TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr1:16956534C>T	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GACGGCGCCACGCAGGTGTTC	0.602													.|||	124	0.0247604	0.0106	0.0447	5008	,	,		57354	0.0		0.0567	False		,,,				2504	0.0225					ENST00000412962.1																			0																																																			0							g.chr1:16956534C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956534C>T														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.602	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	27	0	0	0	1	0	4	27				
GHRL	51738	broad.mit.edu	37	3	10331494	10331494	+	Silent	SNP	C	C	T	rs113751742	byFrequency	TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr3:10331494C>T	ENST00000335542.8	-	4	1047	c.177G>A	c.(175-177)ccG>ccA	p.P59P	GHRL_ENST00000437422.2_Silent_p.P47P|GHRL_ENST00000450603.1_Silent_p.P59P|GHRL_ENST00000449238.2_Silent_p.P46P|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000449554.2_Silent_p.P58P|GHRL_ENST00000446937.2_Intron|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000457360.1_Silent_p.P59P|GHRL_ENST00000476283.1_5'Flank|GHRL_ENST00000430179.1_Silent_p.P58P|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000287656.7_Silent_p.P58P|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000429122.1_Silent_p.P59P|GHRL_ENST00000422159.1_Silent_p.P59P|GHRL_ENST00000439975.2_Intron			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	59					actin polymerization or depolymerization (GO:0008154)|activation of MAPK activity (GO:0000187)|adult feeding behavior (GO:0008343)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|cortisol secretion (GO:0043400)|decidualization (GO:0046697)|dendrite development (GO:0016358)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|glucose metabolic process (GO:0006006)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of locomotion (GO:0040013)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of synapse assembly (GO:0051965)|regulation of cell proliferation (GO:0042127)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to estrogen (GO:0043627)|response to hormone (GO:0009725)	axon (GO:0030424)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|ghrelin receptor binding (GO:0031768)|growth hormone-releasing hormone activity (GO:0016608)|protein tyrosine kinase activator activity (GO:0030296)			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						CTCCATCTTCCGGGCGGAGCC	0.587													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17449	0.001		0.0	False		,,,				2504	0.0					ENST00000335542.8																			0				breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						c.(175-177)ccG>ccA		ghrelin/obestatin prepropeptide		C	,,,,	2,4404	4.2+/-10.8	0,2,2201	146.0	155.0	152.0		174,141,138,,177	-3.8	0.0	3	dbSNP_132	152	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	GHRL	NM_001134941.1,NM_001134944.1,NM_001134945.1,NM_001134946.1,NM_016362.3	,,,,	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	,,,,	58/117,47/106,46/105,,59/118	10331494	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	51738				actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity	g.chr3:10331494C>T	AF296558	CCDS33700.1, CCDS46747.1, CCDS46748.1, CCDS46749.1, CCDS46750.1	3p26-p25	2013-02-26	2008-07-02		ENSG00000157017	ENSG00000157017		"""Endogenous ligands"""	18129	protein-coding gene	gene with protein product	"""prepro-appetite regulatory hormone"""	605353	"""ghrelin, growth hormone secretagogue receptor ligand"""			10930375, 10604470, 16284174	Standard	NR_024133		Approved	MTLRP, ghrelin, obestatin	uc010hdj.2	Q9UBU3	OTTHUMG00000155360	ENST00000335542.8:c.177G>A	3.37:g.10331494C>T						GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000449554.2_Silent_p.P58P|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000429122.1_Silent_p.P59P|GHRL_ENST00000437422.2_Silent_p.P47P|GHRL_ENST00000287656.7_Silent_p.P58P|GHRL_ENST00000439975.2_Intron|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000430179.1_Silent_p.P58P|GHRL_ENST00000450603.1_Silent_p.P59P|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000457360.1_Silent_p.P59P|GHRL_ENST00000422159.1_Silent_p.P59P|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000449238.2_Silent_p.P46P	p.P59P			Q9UBU3	GHRL_HUMAN			4	1047	-			59					A8CF34|A8CF38|A8CF42|A8DN29|A8DN30|Q86YP8|Q8TAT9|Q9H3R3	Silent	SNP	ENST00000335542.8	37	c.177G>A	CCDS33700.1																																																																																				0.587	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000339625.1	NM_016362		5	130	0	0	0	1	0	5	130				
IL1A	3552	broad.mit.edu	37	2	113535636	113535636	+	Silent	SNP	G	G	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr2:113535636G>A	ENST00000263339.3	-	6	698	c.543C>T	c.(541-543)acC>acT	p.T181T		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	181					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)	p.T181T(1)		breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	TTAGAATCACGGTAATTTTAG	0.373																																						ENST00000263339.3																			1	Substitution - coding silent(1)	p.T181T(1)	lung(1)	breast(2)|large_intestine(1)|lung(9)	12						c.(541-543)acC>acT		interleukin 1, alpha							169.0	154.0	160.0					2																	113535636		2203	4300	6503	SO:0001819	synonymous_variant	3552				anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	g.chr2:113535636G>A	M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5991	protein-coding gene	gene with protein product	"""preinterleukin 1 alpha"", ""hematopoietin-1"", ""pro-interleukin-1-alpha"""	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.543C>T	2.37:g.113535636G>A							p.T181T	NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN			6	698	-			181					Q53QF9|Q7RU02	Silent	SNP	ENST00000263339.3	37	c.543C>T	CCDS2101.1																																																																																				0.373	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1	NM_000575		15	64	0	0	0	1	0	15	64				
TGM6	343641	broad.mit.edu	37	20	2375142	2375142	+	Missense_Mutation	SNP	G	G	A	rs202247258		TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr20:2375142G>A	ENST00000202625.2	+	2	113	c.52G>A	c.(52-54)Gct>Act	p.A18T	TGM6_ENST00000381423.1_Missense_Mutation_p.A18T|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	18					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GAGGAATGGCGCTGCCCACCA	0.647																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(52-54)Gct>Act		transglutaminase 6	L-Glutamine(DB00130)	G	THR/ALA	0,4406		0,0,2203	43.0	39.0	41.0		52	-4.4	0.0	20		41	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TGM6	NM_198994.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	18/707	2375142	1,13005	2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2375142G>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.52G>A	20.37:g.2375142G>A	ENSP00000202625:p.Ala18Thr					TGM6_ENST00000381423.1_Missense_Mutation_p.A18T|TGM6_ENST00000477505.1_3'UTR	p.A18T	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			2	113	+			18					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.52G>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	5.616	0.298404	0.10622	0.0	1.16E-4	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.85171	-1.95;-1.95	4.49	-4.41	0.03590	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.977622	0.08404	N	0.950995	T	0.71813	0.3384	L	0.29908	0.895	0.09310	N	1	B;B	0.25235	0.099;0.121	B;B	0.21546	0.035;0.025	T	0.56171	-0.8023	10	0.30854	T	0.27	0.8027	6.5075	0.22204	0.5907:0.1453:0.2639:0.0	.	18;18	O95932-2;O95932	.;TGM3L_HUMAN	T	18	ENSP00000202625:A18T;ENSP00000370831:A18T	ENSP00000202625:A18T	A	+	1	0	TGM6	2323142	0.000000	0.05858	0.004000	0.12327	0.074000	0.17049	-1.740000	0.01839	-0.574000	0.05990	-1.244000	0.01528	GCT		0.647	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		11	25	0	0	0	1	0	11	25				
ALOX12B	242	broad.mit.edu	37	17	7983166	7983166	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:7983166A>T	ENST00000319144.4	-	7	1108	c.848T>A	c.(847-849)aTc>aAc	p.I283N	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	283	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CTTGTCTGGGATCCGCGTGCA	0.657										Multiple Myeloma(8;0.094)																												ENST00000319144.4																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(847-849)aTc>aAc		arachidonate 12-lipoxygenase, 12R type							36.0	35.0	35.0					17																	7983166		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7983166A>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.848T>A	17.37:g.7983166A>T	ENSP00000315167:p.Ile283Asn	Multiple Myeloma(8;0.094)				AC129492.6_ENST00000399413.3_5'UTR	p.I283N	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN			7	1108	-			283			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.848T>A	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857536	0.91433	.	.	ENSG00000179477	ENST00000319144	T	0.77098	-1.07	4.25	4.25	0.50352	Lipoxygenase, C-terminal (3);	0.364262	0.28653	N	0.014589	D	0.85613	0.5737	M	0.70595	2.14	0.43863	D	0.996464	P	0.52842	0.956	D	0.65573	0.936	D	0.87273	0.2287	10	0.87932	D	0	-13.6646	12.7906	0.57530	1.0:0.0:0.0:0.0	.	283	O75342	LX12B_HUMAN	N	283	ENSP00000315167:I283N	ENSP00000315167:I283N	I	-	2	0	ALOX12B	7923891	0.998000	0.40836	0.917000	0.36280	0.994000	0.84299	8.879000	0.92398	1.931000	0.55961	0.454000	0.30748	ATC		0.657	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			5	11	0	0	0	1	0	5	11				
TCEB3C	162699	broad.mit.edu	37	18	44554578	44554578	+	Nonsense_Mutation	SNP	G	G	A	rs367618346		TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr18:44554578G>A	ENST00000330682.2	-	1	1871	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TGAGTTTATCGTCGGGAGAAT	0.567																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(1636-1638)Cga>Tga		transcription elongation factor B polypeptide 3C (elongin A3)		G	,stop/ARG	0,3634		0,0,1817	189.0	184.0	186.0		,1636	-2.2	0.0	18		186	1,6991		0,1,3495	no	intron,stop-gained	KATNAL2,TCEB3C	NM_031303.2,NM_145653.3	,	0,1,5312	AA,AG,GG		0.0143,0.0,0.0094	,	,546/547	44554578	1,10625	1817	3496	5313	SO:0001587	stop_gained	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44554578G>A	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1636C>T	18.37:g.44554578G>A	ENSP00000328232:p.Arg546*					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	p.R546*	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1871	-			546						Nonsense_Mutation	SNP	ENST00000330682.2	37	c.1636C>T	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	g	15.16	2.752208	0.49362	0.0	1.43E-4	ENSG00000183791	ENST00000330682	.	.	.	1.35	-2.15	0.07102	.	0.411091	0.17258	U	0.180893	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.243	0.04024	0.2244:0.0:0.3637:0.4119	.	.	.	.	X	546	.	ENSP00000328232:R546X	R	-	1	2	TCEB3C	42808576	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	-1.800000	0.01744	-0.597000	0.05813	-0.350000	0.07774	CGA		0.567	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		11	1121	0	0	0	1	0	11	1121				
GRM1	2911	broad.mit.edu	37	6	146755853	146755853	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr6:146755853C>T	ENST00000282753.1	+	8	3741	c.3506C>T	c.(3505-3507)tCg>tTg	p.S1169L	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.S1169L|GRM1_ENST00000507907.1_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1169	Ser-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GTGTCCGAGTCGGTGCTCTGC	0.627																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3505-3507)tCg>tTg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						41.0	43.0	42.0					6																	146755853		2201	4299	6500	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755853C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3506C>T	6.37:g.146755853C>T	ENSP00000282753:p.Ser1169Leu					GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.S1169L|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR	p.S1169L	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3976	+		Ovarian(120;0.0387)	1169			Ser-rich.		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3506C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615640	0.87359	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.90197	-2.63;-2.63	5.63	5.63	0.86233	Metabotropic glutamate receptor, Homer-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90539	0.7035	L	0.49350	1.555	0.80722	D	1	D	0.57257	0.979	P	0.51999	0.687	D	0.90633	0.4568	10	0.56958	D	0.05	.	19.6648	0.95889	0.0:1.0:0.0:0.0	.	1169	Q13255	GRM1_HUMAN	L	1169	ENSP00000354896:S1169L;ENSP00000282753:S1169L	ENSP00000282753:S1169L	S	+	2	0	GRM1	146797546	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.487000	0.81328	2.651000	0.90000	0.655000	0.94253	TCG		0.627	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		16	34	0	0	0	1	0	16	34				
NPTX2	4885	broad.mit.edu	37	7	98257788	98257788	+	Silent	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr7:98257788C>T	ENST00000265634.3	+	5	1308	c.1143C>T	c.(1141-1143)cgC>cgT	p.R381R		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	381	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TATGGGACCGCGTCCTTCGCG	0.557																																						ENST00000265634.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1141-1143)cgC>cgT		neuronal pentraxin II							96.0	75.0	82.0					7																	98257788		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98257788C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1143C>T	7.37:g.98257788C>T							p.R381R	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	1308	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		381			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.1143C>T	CCDS5657.1																																																																																				0.557	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		4	8	0	0	0	1	0	4	8				
ZNF571	51276	broad.mit.edu	37	19	38056651	38056651	+	Missense_Mutation	SNP	C	C	T	rs115491718	byFrequency	TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr19:38056651C>T	ENST00000328550.2	-	4	778	c.679G>A	c.(679-681)Gca>Aca	p.A227T	ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.A227T|ZNF571_ENST00000451802.2_Missense_Mutation_p.A227T|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.A227T|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A227T(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCCACATGCGTTACACTGA	0.383													C|||	5	0.000998403	0.003	0.0	5008	,	,		20874	0.0		0.0	False		,,,				2504	0.001					ENST00000328550.2																			1	Substitution - Missense(1)	p.A227T(1)	large_intestine(1)	breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(679-681)Gca>Aca		zinc finger protein 571		C	THR/ALA	11,4395	16.8+/-37.8	0,11,2192	84.0	80.0	82.0		679	1.4	0.0	19	dbSNP_132	82	0,8598		0,0,4299	yes	missense	ZNF571	NM_016536.3	58	0,11,6491	TT,TC,CC		0.0,0.2497,0.0846	possibly-damaging	227/610	38056651	11,12993	2203	4299	6502	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056651C>T	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.679G>A	19.37:g.38056651C>T	ENSP00000333660:p.Ala227Thr					ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.A227T|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.A227T|ZNF571_ENST00000358744.3_Missense_Mutation_p.A227T	p.A227T			Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	778	-			227					Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.679G>A	CCDS12505.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.26	2.482662	0.44147	0.002497	0.0	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.07567	3.18;3.18;3.18	3.76	1.43	0.22495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03959	0.0111	N	0.02674	-0.535	0.09310	N	1	P	0.48764	0.915	P	0.45998	0.5	T	0.32214	-0.9915	9	0.72032	D	0.01	.	3.8066	0.08780	0.1646:0.5757:0.1608:0.0989	.	227	Q7Z3V5	ZN571_HUMAN	T	227	ENSP00000333660:A227T;ENSP00000392638:A227T;ENSP00000351594:A227T	ENSP00000333660:A227T	A	-	1	0	ZNF571	42748491	0.000000	0.05858	0.000000	0.03702	0.687000	0.40016	-0.056000	0.11787	0.209000	0.20645	0.313000	0.20887	GCA		0.383	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		17	44	0	0	0	1	0	17	44				
NKX6-2	84504	broad.mit.edu	37	10	134598510	134598510	+	Silent	SNP	G	G	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr10:134598510G>A	ENST00000368592.5	-	3	847	c.744C>T	c.(742-744)gaC>gaT	p.D248D	RP11-288G11.3_ENST00000441365.2_lincRNA	NM_177400.2	NP_796374	Q9C056	NKX62_HUMAN	NK6 homeobox 2	248					central nervous system myelination (GO:0022010)|endocrine pancreas development (GO:0031018)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of glial cell differentiation (GO:0045687)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		TGATCTTCTCGTCGTCCGAGT	0.672																																						ENST00000368592.5																			0				endometrium(1)|lung(2)	3						c.(742-744)gaC>gaT		NK6 homeobox 2							95.0	71.0	79.0					10																	134598510		2199	4299	6498	SO:0001819	synonymous_variant	84504					nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:134598510G>A	AF184215	CCDS7670.1	10q26.3	2012-03-09	2007-07-09		ENSG00000148826	ENSG00000148826		"""Homeoboxes / ANTP class : NKL subclass"""	19321	protein-coding gene	gene with protein product		605955	"""NK6 transcription factor related, locus 2 (Drosophila)"""			11210186	Standard	NM_177400		Approved	NKX6B, GTX, NKX6.1	uc001llr.2	Q9C056	OTTHUMG00000019294	ENST00000368592.5:c.744C>T	10.37:g.134598510G>A							p.D248D	NM_177400.2	NP_796374.1	Q9C056	NKX62_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)	3	847	-		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)	248					Q5JSF3	Silent	SNP	ENST00000368592.5	37	c.744C>T	CCDS7670.1																																																																																				0.672	NKX6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051093.2			3	24	0	0	0	1	0	3	24				
PLB1	151056	broad.mit.edu	37	2	28752252	28752252	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr2:28752252G>T	ENST00000327757.5	+	7	438	c.394G>T	c.(394-396)Gtc>Ttc	p.V132F	PLB1_ENST00000422425.2_Missense_Mutation_p.V132F	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	132	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGGAAAGAGAGTCATACCCCA	0.483																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(394-396)Gtc>Ttc		phospholipase B1							223.0	200.0	208.0					2																	28752252		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28752252G>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.394G>T	2.37:g.28752252G>T	ENSP00000330442:p.Val132Phe					PLB1_ENST00000327757.5_Missense_Mutation_p.V132F	p.V132F	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			7	438	+	Acute lymphoblastic leukemia(172;0.155)		132			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.394G>T	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.55|14.55	2.570188|2.570188	0.45798|0.45798	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000416713;ENST00000327757;ENST00000422425	.|T;T;T	.|0.22743	.|1.94;2.67;2.65	5.58|5.58	-5.5|-5.5	0.02576|0.02576	.|.	.|2.471040	.|0.01379	.|N	.|0.012844	T|T	0.18257|0.18257	0.0438|0.0438	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|P;P	.|0.36683	.|0.517;0.565	.|B;B	.|0.32864	.|0.154;0.101	T|T	0.33240|0.33240	-0.9876|-0.9876	5|10	.|0.72032	.|D	.|0.01	2.6794|2.6794	7.3361|7.3361	0.26611|0.26611	0.3652:0.437:0.1978:0.0|0.3652:0.437:0.1978:0.0	.|.	.|132;132	.|Q6P1J6-3;Q6P1J6	.|.;PLB1_HUMAN	D|F	130|76;132;132	.|ENSP00000407076:V76F;ENSP00000330442:V132F;ENSP00000416440:V132F	.|ENSP00000330442:V132F	E|V	+|+	3|1	2|0	PLB1|PLB1	28605756|28605756	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.779000|-0.779000	0.04659|0.04659	-1.334000|-1.334000	0.02244|0.02244	-0.208000|-0.208000	0.12717|0.12717	GAG|GTC		0.483	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			8	53	1	0	0.0381472	1	0.0381472	8	53				
C9orf43	257169	broad.mit.edu	37	9	116187645	116187645	+	Missense_Mutation	SNP	G	G	A	rs527300639|rs371732185		TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr9:116187645G>A	ENST00000288462.4	+	10	1333	c.887G>A	c.(886-888)cGg>cAg	p.R296Q	C9orf43_ENST00000374165.1_Missense_Mutation_p.R296Q	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	296	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						cagcagcagcggcagcagcag	0.547																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(886-888)cGg>cAg		chromosome 9 open reading frame 43							62.0	64.0	63.0					9																	116187645		2203	4300	6503	SO:0001583	missense	257169							g.chr9:116187645G>A	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.887G>A	9.37:g.116187645G>A	ENSP00000288462:p.Arg296Gln					C9orf43_ENST00000374165.1_Missense_Mutation_p.R296Q	p.R296Q	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			10	1333	+			296			Gln-rich.			Missense_Mutation	SNP	ENST00000288462.4	37	c.887G>A	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	0.045	-1.269215	0.01421	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.41758	0.99;0.99	2.74	-2.81	0.05805	.	3.844300	0.00357	N	0.000029	T	0.22936	0.0554	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.01281	0.0	T	0.14117	-1.0484	10	0.22109	T	0.4	.	8.4134	0.32657	0.3379:0.0:0.6621:0.0	.	296	Q8TAL5	CI043_HUMAN	Q	296	ENSP00000363280:R296Q;ENSP00000288462:R296Q	ENSP00000288462:R296Q	R	+	2	0	C9orf43	115227466	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-0.501000	0.06398	-0.639000	0.05502	-0.379000	0.06801	CGG		0.547	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		3	59	0	0	0	1	0	3	59				
PSORS1C1	170679	broad.mit.edu	37	6	31084297	31084297	+	Intron	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr6:31084297C>T	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Silent_p.S365S	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						ATGCAATGGCCGAGGAAGCTG	0.642																																						ENST00000376288.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						c.(1093-1095)tcG>tcA		corneodesmosin							17.0	18.0	18.0					6																	31084297		2200	4300	6500	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31084297C>T	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1629C>T	6.37:g.31084297C>T						PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	p.S365S	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN			2	1121	-			365			Ser-rich.		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	c.1095G>A	CCDS34390.1																																																																																				0.642	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		8	15	0	0	0	1	0	8	15				
UNK	85451	broad.mit.edu	37	17	73809210	73809210	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:73809210C>T	ENST00000589666.1	+	5	784	c.674C>T	c.(673-675)cCg>cTg	p.P225L	UNK_ENST00000293218.3_Missense_Mutation_p.P301L	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	225							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P225L(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGAAGCCCCCGCGGCTGTGC	0.632																																						ENST00000293218.3																			1	Substitution - Missense(1)	p.P225L(1)	large_intestine(1)	cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(901-903)cCg>cTg		unkempt family zinc finger							21.0	26.0	24.0					17																	73809210		1884	4103	5987	SO:0001583	missense	85451						nucleic acid binding|zinc ion binding	g.chr17:73809210C>T	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.674C>T	17.37:g.73809210C>T	ENSP00000464893:p.Pro225Leu					UNK_ENST00000589666.1_Missense_Mutation_p.P225L	p.P301L			Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	902	+			225						Missense_Mutation	SNP	ENST00000589666.1	37	c.902C>T	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	C	33	5.230069	0.95207	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.84	4.84	0.62591	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.80347	0.4606	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80979	-0.1140	9	0.44086	T	0.13	-15.673	18.1613	0.89708	0.0:1.0:0.0:0.0	.	225	Q9C0B0	UNK_HUMAN	L	301	.	ENSP00000293218:P301L	P	+	2	0	UNK	71320805	1.000000	0.71417	0.994000	0.49952	1.000000	0.99986	7.520000	0.81821	2.523000	0.85059	0.655000	0.94253	CCG		0.632	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		3	5	0	0	0	1	0	3	5				
FRMD5	84978	broad.mit.edu	37	15	44166604	44166604	+	Missense_Mutation	SNP	C	C	T	rs372366104		TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr15:44166604C>T	ENST00000417257.1	-	14	1368	c.1192G>A	c.(1192-1194)Ggg>Agg	p.G398R	FRMD5_ENST00000402883.1_Missense_Mutation_p.G398R|FRMD5_ENST00000484674.1_Missense_Mutation_p.G304R	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	398						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		AAGGTGTCCCCATGGGAAGTG	0.562																																						ENST00000417257.1																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1192-1194)Ggg>Agg		FERM domain containing 5							71.0	66.0	68.0					15																	44166604		2198	4298	6496	SO:0001583	missense	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44166604C>T	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.1192G>A	15.37:g.44166604C>T	ENSP00000403067:p.Gly398Arg					FRMD5_ENST00000484674.1_Missense_Mutation_p.G304R|FRMD5_ENST00000402883.1_Missense_Mutation_p.G398R	p.G398R	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	14	1368	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	398					Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	37	c.1192G>A	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216213	0.39201	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.84944	-1.71;-1.85;-1.92	5.87	4.78	0.61160	.	0.238047	0.42821	D	0.000656	T	0.77698	0.4169	L	0.44542	1.39	0.41871	D	0.990278	B;B;B;B	0.33919	0.432;0.148;0.407;0.27	B;B;B;B	0.33521	0.165;0.08;0.088;0.143	T	0.72253	-0.4347	10	0.17369	T	0.5	.	10.9522	0.47336	0.0:0.8426:0.0:0.1574	.	383;398;398;71	Q7Z6J6-2;Q7Z6J6;B5MC67;A8K1U8	.;FRMD5_HUMAN;.;.	R	398;398;364	ENSP00000403067:G398R;ENSP00000384142:G398R;ENSP00000399684:G364R	ENSP00000384142:G398R	G	-	1	0	FRMD5	41953896	0.993000	0.37304	0.998000	0.56505	0.996000	0.88848	2.997000	0.49457	2.780000	0.95670	0.655000	0.94253	GGG		0.562	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		10	38	0	0	0	1	0	10	38				
SMCR8	140775	broad.mit.edu	37	17	18219934	18219934	+	Silent	SNP	G	G	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:18219934G>A	ENST00000406438.3	+	1	1311	c.831G>A	c.(829-831)caG>caA	p.Q277Q	TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	277						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCCAGGATCAGGCCAGCCAGG	0.512																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(829-831)caG>caA		Smith-Magenis syndrome chromosome region, candidate 8							77.0	63.0	68.0					17																	18219934		2203	4300	6503	SO:0001819	synonymous_variant	140775							g.chr17:18219934G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.831G>A	17.37:g.18219934G>A							p.Q277Q	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	1311	+			277					A5PKZ5|Q3ZCN0|Q6PJL3	Silent	SNP	ENST00000406438.3	37	c.831G>A	CCDS11195.2																																																																																				0.512	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		7	27	0	0	0	1	0	7	27				
CLDN20	49861	broad.mit.edu	37	6	155597385	155597385	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr6:155597385G>A	ENST00000367165.3	+	2	912	c.532G>A	c.(532-534)Ggc>Agc	p.G178S	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	178					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		GTTTATCTCTGGCATGATTTT	0.438																																						ENST00000367165.3																			0				endometrium(1)|lung(2)	3						c.(532-534)Ggc>Agc		claudin 20							75.0	69.0	71.0					6																	155597385		2203	4300	6503	SO:0001583	missense	49861				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr6:155597385G>A	BC020838	CCDS5249.1	6q25	2008-08-01			ENSG00000171217	ENSG00000171217		"""Claudins"""	2042	protein-coding gene	gene with protein product						16836752	Standard	NM_001001346		Approved		uc003qql.2	P56880	OTTHUMG00000015882	ENST00000367165.3:c.532G>A	6.37:g.155597385G>A	ENSP00000356133:p.Gly178Ser					TFB1M_ENST00000367166.4_Intron	p.G178S	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)	2	912	+			178						Missense_Mutation	SNP	ENST00000367165.3	37	c.532G>A	CCDS5249.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417706	0.83449	.	.	ENSG00000171217	ENST00000367165	D	0.98684	-5.07	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.99524	0.9830	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98340	1.0538	10	0.87932	D	0	.	19.85	0.96736	0.0:0.0:1.0:0.0	.	178	P56880	CLD20_HUMAN	S	178	ENSP00000356133:G178S	ENSP00000356133:G178S	G	+	1	0	CLDN20	155639077	1.000000	0.71417	0.887000	0.34795	0.322000	0.28314	7.660000	0.83776	2.697000	0.92050	0.563000	0.77884	GGC		0.438	CLDN20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042818.1	NM_001001346		18	58	0	0	0	1	0	18	58				
SHOX2	6474	broad.mit.edu	37	3	157820524	157820524	+	Silent	SNP	G	G	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr3:157820524G>A	ENST00000425436.3	-	2	523	c.498C>T	c.(496-498)gaC>gaT	p.D166D	SHOX2_ENST00000389589.4_Silent_p.D190D|SHOX2_ENST00000483851.2_Silent_p.D166D|SHOX2_ENST00000490689.2_Silent_p.D37D|SHOX2_ENST00000441443.2_Silent_p.D37D|SHOX2_ENST00000554685.1_5'UTR	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	166					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCATGAAGGCGTCGGGATAGT	0.592																																						ENST00000490689.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20						c.(109-111)gaC>gaT		short stature homeobox 2							131.0	111.0	117.0					3																	157820524		2203	4300	6503	SO:0001819	synonymous_variant	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157820524G>A	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.498C>T	3.37:g.157820524G>A						SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000425436.3_Silent_p.D166D|SHOX2_ENST00000483851.2_Silent_p.D166D|SHOX2_ENST00000441443.2_Silent_p.D37D|SHOX2_ENST00000389589.4_Silent_p.D190D	p.D37D			O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		2	1644	-			166					O60465|O60467|O60903	Silent	SNP	ENST00000425436.3	37	c.111C>T	CCDS43164.1	.	.	.	.	.	.	.	.	.	.	G	9.842	1.191252	0.21954	.	.	ENSG00000168779	ENST00000555977	.	.	.	5.49	-0.868	0.10652	.	.	.	.	.	T	0.57036	0.2026	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52102	-0.8620	4	.	.	.	.	10.2376	0.43292	0.4989:0.0:0.5011:0.0	.	.	.	.	C	70	.	.	R	-	1	0	SHOX2	159303218	1.000000	0.71417	0.989000	0.46669	0.960000	0.62799	0.615000	0.24329	-0.212000	0.10109	-0.345000	0.07892	CGC		0.592	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			6	65	0	0	0	1	0	6	65				
NRAP	4892	broad.mit.edu	37	10	115364399	115364399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr10:115364399C>T	ENST00000359988.3	-	35	4440	c.4196G>A	c.(4195-4197)tGg>tAg	p.W1399*	NRAP_ENST00000369358.4_Nonsense_Mutation_p.W1407*|NRAP_ENST00000360478.3_Nonsense_Mutation_p.W1364*|NRAP_ENST00000369360.3_Nonsense_Mutation_p.W1372*	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTTCTTGGCCCAGGCCATCTT	0.582																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(4219-4221)tGg>tAg		nebulin-related anchoring protein							90.0	84.0	86.0					10																	115364399		2203	4300	6503	SO:0001587	stop_gained	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115364399C>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4196G>A	10.37:g.115364399C>T	ENSP00000353078:p.Trp1399*					NRAP_ENST00000369360.3_Nonsense_Mutation_p.W1372*|NRAP_ENST00000360478.3_Nonsense_Mutation_p.W1364*|NRAP_ENST00000359988.3_Nonsense_Mutation_p.W1399*	p.W1407*			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	35	4464	-		Colorectal(252;0.0233)|Breast(234;0.188)	1399						Nonsense_Mutation	SNP	ENST00000359988.3	37	c.4220G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	41	8.951241	0.99014	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	.	.	.	5.54	5.54	0.83059	.	0.059875	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.4903	0.95047	0.0:1.0:0.0:0.0	.	.	.	.	X	1407;1372;1399;1364;557	.	ENSP00000353078:W1399X	W	-	2	0	NRAP	115354389	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	4.970000	0.63742	2.622000	0.88805	0.555000	0.69702	TGG		0.582	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		15	20	0	0	0	1	0	15	20				
SLC15A1	6564	broad.mit.edu	37	13	99362008	99362008	+	Silent	SNP	G	G	A	rs141847035		TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr13:99362008G>A	ENST00000376503.5	-	13	1021	c.966C>T	c.(964-966)ccC>ccT	p.P322P		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	322					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GCATCTGATCGGGCTGAATTT	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21561	0.0		0.0	False		,,,				2504	0.0					ENST00000376503.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(964-966)ccC>ccT		solute carrier family 15 (oligopeptide transporter), member 1	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	G		3,4403	6.2+/-15.9	0,3,2200	109.0	103.0	105.0		966	-10.0	0.5	13	dbSNP_134	105	0,8600		0,0,4300	no	coding-synonymous	SLC15A1	NM_005073.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		322/709	99362008	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99362008G>A	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.966C>T	13.37:g.99362008G>A							p.P322P	NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN			13	1021	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		322					Q5VW82	Silent	SNP	ENST00000376503.5	37	c.966C>T	CCDS9489.1																																																																																				0.423	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		15	38	0	0	0	1	0	15	38				
KIAA1468	57614	broad.mit.edu	37	18	59894681	59894681	+	Missense_Mutation	SNP	A	A	G	rs369238556		TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr18:59894681A>G	ENST00000398130.2	+	6	1250	c.1018A>G	c.(1018-1020)Ata>Gta	p.I340V	KIAA1468_ENST00000256858.6_Missense_Mutation_p.I340V	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	340										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TACACCAATTATAAGCAACCT	0.403													A|||	1	0.000199681	0.0008	0.0	5008	,	,		14909	0.0		0.0	False		,,,				2504	0.0					ENST00000256858.6																			0				autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1018-1020)Ata>Gta		KIAA1468		A	VAL/ILE	1,4143		0,1,2071	106.0	110.0	109.0		1018	-1.4	0.8	18		109	1,8453		0,1,4226	no	missense	KIAA1468	NM_020854.3	29	0,2,6297	GG,GA,AA		0.0118,0.0241,0.0159	benign	340/1217	59894681	2,12596	2072	4227	6299	SO:0001583	missense	57614						binding	g.chr18:59894681A>G	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1018A>G	18.37:g.59894681A>G	ENSP00000381198:p.Ile340Val					KIAA1468_ENST00000398130.2_Missense_Mutation_p.I340V	p.I340V			Q9P260	K1468_HUMAN			6	1266	+		Colorectal(73;0.186)	340						Missense_Mutation	SNP	ENST00000398130.2	37	c.1018A>G	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	A	0.234	-1.018771	0.02078	2.41E-4	1.18E-4	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.35	-1.38	0.09027	.	0.688458	0.13242	N	0.402796	T	0.11410	0.0278	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.14023	0.001;0.01	T	0.23655	-1.0182	8	.	.	.	-0.0028	1.5889	0.02650	0.1434:0.3321:0.1361:0.3884	.	340;340	Q9P260-2;Q9P260	.;K1468_HUMAN	V	340	.	.	I	+	1	0	KIAA1468	58045661	0.013000	0.17824	0.833000	0.33012	0.815000	0.46073	0.126000	0.15769	-0.221000	0.09973	-0.646000	0.03943	ATA		0.403	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		10	77	0	0	0	1	0	10	77				
SYNE1	23345	broad.mit.edu	37	6	152847287	152847287	+	Silent	SNP	G	G	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr6:152847287G>A	ENST00000367255.5	-	5	754	c.153C>T	c.(151-153)gaC>gaT	p.D51D	SYNE1_ENST00000466159.2_Silent_p.D51D|SYNE1_ENST00000413186.2_Silent_p.D51D|SYNE1_ENST00000367248.3_Silent_p.D51D|SYNE1_ENST00000341594.5_Silent_p.D51D|SYNE1_ENST00000423061.1_Silent_p.D51D|SYNE1_ENST00000448038.1_Silent_p.D51D|SYNE1_ENST00000367253.4_Silent_p.D51D|SYNE1_ENST00000265368.4_Silent_p.D51D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	51	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAAAAAGATCGTCCACCACCA	0.418										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(151-153)gaC>gaT		spectrin repeat containing, nuclear envelope 1							104.0	93.0	97.0					6																	152847287		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152847287G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.153C>T	6.37:g.152847287G>A		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Silent_p.D51D|SYNE1_ENST00000265368.4_Silent_p.D51D|SYNE1_ENST00000367253.4_Silent_p.D51D|SYNE1_ENST00000423061.1_Silent_p.D51D|SYNE1_ENST00000413186.2_Silent_p.D51D|SYNE1_ENST00000466159.2_Silent_p.D51D|SYNE1_ENST00000341594.5_Silent_p.D51D|SYNE1_ENST00000367248.3_Silent_p.D51D	p.D51D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	5	754	-		Ovarian(120;0.0955)	51			Actin-binding.|CH 1.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.153C>T	CCDS5236.2																																																																																				0.418	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		24	81	0	0	0	1	0	24	81				
OR11L1	391189	broad.mit.edu	37	1	248004453	248004453	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr1:248004453G>C	ENST00000355784.2	-	1	801	c.746C>G	c.(745-747)aCt>aGt	p.T249S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	249						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTAGTAGAGAGTGACAACAGC	0.498																																						ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(745-747)aCt>aGt		olfactory receptor, family 11, subfamily L, member 1							114.0	110.0	111.0					1																	248004453		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004453G>C	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.746C>G	1.37:g.248004453G>C	ENSP00000348033:p.Thr249Ser						p.T249S	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	801	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		249						Missense_Mutation	SNP	ENST00000355784.2	37	c.746C>G	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.477376	0.01035	.	.	ENSG00000197591	ENST00000355784	T	0.38240	1.15	4.42	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31589	U	0.007387	T	0.17109	0.0411	N	0.12569	0.235	0.21719	N	0.999579	B	0.24618	0.107	B	0.28305	0.088	T	0.31392	-0.9945	10	0.05436	T	0.98	.	10.0658	0.42303	0.0:0.4162:0.4416:0.1422	.	249	Q8NGX0	O11L1_HUMAN	S	249	ENSP00000348033:T249S	ENSP00000348033:T249S	T	-	2	0	OR11L1	246071076	0.000000	0.05858	0.964000	0.40570	0.483000	0.33249	-0.061000	0.11693	0.565000	0.29255	-0.386000	0.06593	ACT		0.498	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		9	28	0	0	0	1	0	9	28				
MOV10L1	54456	broad.mit.edu	37	22	50581567	50581567	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr22:50581567G>T	ENST00000262794.5	+	17	2358	c.2275G>T	c.(2275-2277)Ggt>Tgt	p.G759C	MOV10L1_ENST00000545383.1_Missense_Mutation_p.G759C|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G759C|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G739C|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	759					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GATTCTGAGTGGTGACTGCCG	0.443																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(2275-2277)Ggt>Tgt		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							136.0	141.0	139.0					22																	50581567		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50581567G>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2275G>T	22.37:g.50581567G>T	ENSP00000262794:p.Gly759Cys					MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G759C|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G759C|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G739C	p.G759C	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	17	2358	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	759					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.2275G>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580130	0.65992	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.86053	0.5841	N	0.20401	0.57	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	D	0.87538	0.2457	10	0.59425	D	0.04	-36.8932	19.6476	0.95789	0.0:0.0:1.0:0.0	.	520;739;759;759	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	C	759;759;759;739	ENSP00000438978:G759C;ENSP00000262794:G759C;ENSP00000379199:G759C;ENSP00000438542:G739C	ENSP00000262794:G759C	G	+	1	0	MOV10L1	48923694	1.000000	0.71417	0.986000	0.45419	0.102000	0.19082	9.191000	0.94940	2.647000	0.89833	0.655000	0.94253	GGT		0.443	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		6	122	1	0	3.59834e-05	1	3.83301e-05	6	122				
ITPR2	3709	broad.mit.edu	37	12	26596569	26596569	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr12:26596569A>C	ENST00000381340.3	-	46	6773	c.6357T>G	c.(6355-6357)aaT>aaG	p.N2119K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2119					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GCAACAGTTTATTGTGGCGGG	0.423																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(6355-6357)aaT>aaG		inositol 1,4,5-trisphosphate receptor, type 2							135.0	127.0	129.0					12																	26596569		1885	4118	6003	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26596569A>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6357T>G	12.37:g.26596569A>C	ENSP00000370744:p.Asn2119Lys						p.N2119K	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			46	6773	-	Colorectal(261;0.0847)		2119					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.6357T>G	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.323202	0.60634	.	.	ENSG00000123104	ENST00000381340	D	0.93307	-3.2	4.87	-3.24	0.05094	.	0.050146	0.85682	D	0.000000	D	0.94729	0.8299	M	0.89904	3.07	0.80722	D	1	P	0.45474	0.859	P	0.48770	0.589	D	0.93809	0.7108	10	0.87932	D	0	.	14.7015	0.69160	0.2693:0.0:0.7307:0.0	.	2119	Q14571	ITPR2_HUMAN	K	2119	ENSP00000370744:N2119K	ENSP00000370744:N2119K	N	-	3	2	ITPR2	26487836	0.989000	0.36119	0.747000	0.31113	0.743000	0.42351	0.344000	0.19962	-0.620000	0.05641	-0.408000	0.06270	AAT		0.423	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		13	24	0	0	0	1	0	13	24				
VSNL1	7447	broad.mit.edu	37	2	17830730	17830730	+	Silent	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr2:17830730C>T	ENST00000406397.1	+	3	741	c.216C>T	c.(214-216)ttC>ttT	p.F72F	VSNL1_ENST00000295156.4_Silent_p.F72F|VSNL1_ENST00000404666.2_Silent_p.F72F			P62760	VISL1_HUMAN	visinin-like 1	72	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCGAACCTTCGACAAGAATG	0.557																																						ENST00000406397.1																			0				NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(214-216)ttC>ttT		visinin-like 1							158.0	149.0	152.0					2																	17830730		2203	4300	6503	SO:0001819	synonymous_variant	7447						calcium ion binding	g.chr2:17830730C>T		CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"""EF-hand domain containing"""	12722	protein-coding gene	gene with protein product	"""hippocalcin-like protein 3"""	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.216C>T	2.37:g.17830730C>T						VSNL1_ENST00000295156.4_Silent_p.F72F|VSNL1_ENST00000404666.2_Silent_p.F72F	p.F72F			P62760	VISL1_HUMAN			3	741	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		72			EF-hand 2.		D6W515|P28677|P29103|P42323|Q9UM20	Silent	SNP	ENST00000406397.1	37	c.216C>T	CCDS1689.1																																																																																				0.557	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	NM_003385		6	67	0	0	0	1	0	6	67				
PFKFB1	5207	broad.mit.edu	37	X	54989723	54989723	+	Nonsense_Mutation	SNP	G	G	A	rs372795411		TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chrX:54989723G>A	ENST00000375006.3	-	2	260	c.190C>T	c.(190-192)Cga>Tga	p.R64*	PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.R64*|PFKFB1_ENST00000545676.1_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	64	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTGAGATATCGTGTGAGCTTT	0.438																																						ENST00000375006.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(190-192)Cga>Tga		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1		G	stop/ARG	0,3835		0,0,1632,571	235.0	190.0	205.0		190	-5.6	0.0	X		205	1,6727		0,1,2427,1872	no	stop-gained	PFKFB1	NM_002625.2		0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095		64/472	54989723	1,10562	2203	4300	6503	SO:0001587	stop_gained	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54989723G>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.190C>T	X.37:g.54989723G>A	ENSP00000364145:p.Arg64*					PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.R64*|PFKFB1_ENST00000545676.1_Intron	p.R64*	NM_002625.2	NP_002616.2	P16118	F261_HUMAN			2	260	-			64			6-phosphofructo-2-kinase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Nonsense_Mutation	SNP	ENST00000375006.3	37	c.190C>T	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301160	0.81136	0.0	1.49E-4	ENSG00000158571	ENST00000375006;ENST00000374992	.	.	.	5.51	-5.55	0.02536	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7994	13.0478	0.58937	0.0615:0.0:0.2421:0.6964	.	.	.	.	X	64	.	ENSP00000364131:R64X	R	-	1	2	PFKFB1	55006448	0.964000	0.33143	0.001000	0.08648	0.936000	0.57629	0.699000	0.25586	-1.174000	0.02754	-0.237000	0.12165	CGA		0.438	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			32	92	0	0	0	1	0	32	92				
NBPF10	100132406	broad.mit.edu	37	1	145293478	145293478	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr1:145293478C>T	ENST00000369339.3	+	3	326	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.R25C			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	296						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CGAGACATTGCGCCCCCAGCT	0.502																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(73-75)Cgc>Tgc		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145293478C>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.73C>T	1.37:g.145293478C>T	ENSP00000358345:p.Arg25Cys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Missense_Mutation_p.R25C|RP11-458D21.5_ENST00000468030.1_3'UTR	p.R25C	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	108	+	all_hematologic(923;0.032)		25					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.73C>T		.	.	.	.	.	.	.	.	.	.	.	7.184	0.590223	0.13812	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.03441	3.93	1.06	-1.21	0.09524	.	.	.	.	.	T	0.01092	0.0036	L	0.51914	1.62	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.44711	-0.9310	9	0.39692	T	0.17	.	3.9047	0.09177	0.0:0.4611:0.0:0.5389	.	25	A8MQ30	.	C	25	ENSP00000345684:R25C	ENSP00000345684:R25C	R	+	1	0	NBPF10	144004835	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.505000	0.06367	-0.464000	0.06963	0.184000	0.17185	CGC		0.502	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		7	802	0	0	0	1	0	7	802				
ANKRD20A8P	729171	broad.mit.edu	37	2	95497792	95497792	+	RNA	SNP	C	C	A	rs28521748		TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr2:95497792C>A	ENST00000432432.2	-	0	1051					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		CTTTTTCATGCGAAGGTCCAG	0.413																																						ENST00000432432.2																			0																																																			0							g.chr2:95497792C>A			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95497792C>A								NR_040113.1						0	1051	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.413	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	257	1	0	0.00909568	1	0.00928517	4	257				
MUC4	4585	broad.mit.edu	37	3	195511638	195511638	+	Silent	SNP	G	G	A	rs201456042	byFrequency	TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr3:195511638G>A	ENST00000463781.3	-	2	7272	c.6813C>T	c.(6811-6813)acC>acT	p.T2271T	MUC4_ENST00000475231.1_Silent_p.T2271T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGGAAGAGAGGTGGCGTGAC	0.592													.|||	208	0.0415335	0.0348	0.0418	5008	,	,		10413	0.0		0.0994	False		,,,				2504	0.0337					ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6811-6813)acC>acT		mucin 4, cell surface associated							41.0	38.0	39.0					3																	195511638		675	1585	2260	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511638G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6813C>T	3.37:g.195511638G>A						MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2271T	p.T2271T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7272	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	40					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.6813C>T	CCDS54700.1																																																																																				0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	4	0	0	0	1	0	3	4				
CADM1	23705	broad.mit.edu	37	11	115109289	115109289	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr11:115109289C>T	ENST00000452722.3	-	3	375	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000542447.2_Missense_Mutation_p.E119K|CADM1_ENST00000331581.6_Missense_Mutation_p.E119K|CADM1_ENST00000536727.1_Missense_Mutation_p.E119K|CADM1_ENST00000537058.1_Missense_Mutation_p.E119K	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TATCTTCCTTCATCAGAAATT	0.448																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(355-357)Gaa>Aaa		cell adhesion molecule 1							128.0	122.0	124.0					11																	115109289		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115109289C>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.355G>A	11.37:g.115109289C>T	ENSP00000395359:p.Glu119Lys					CADM1_ENST00000452722.2_Missense_Mutation_p.E119K|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Missense_Mutation_p.E119K|CADM1_ENST00000536727.1_Missense_Mutation_p.E119K|CADM1_ENST00000331581.6_Missense_Mutation_p.E119K	p.E119K	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	3	483	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	119			Ig-like V-type.			Missense_Mutation	SNP	ENST00000452722.3	37	c.355G>A	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.059381|5.059381	0.93846|0.93846	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000545094|ENST00000543249	T;T;T;T;T;T|.	0.67171|.	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.046598|.	0.85682|.	D|.	0.000000|.	T|T	0.78451|0.78451	0.4285|0.4285	M|M	0.78916|0.78916	2.43|2.43	0.80722|0.80722	D|D	1|1	P;D;D;D;D|.	0.76494|.	0.925;0.998;0.996;0.999;0.997|.	P;D;D;D;D|.	0.85130|.	0.616;0.942;0.926;0.997;0.989|.	T|T	0.77892|0.77892	-0.2418|-0.2418	10|5	0.39692|.	T|.	0.17|.	.|.	19.3366|19.3366	0.94322|0.94322	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	119;119;120;119;119|.	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1|.	.;.;.;CADM1_HUMAN;.|.	K|I	119;119;119;119;78;119;86|102	ENSP00000439176:E119K;ENSP00000395359:E119K;ENSP00000439817:E119K;ENSP00000440322:E119K;ENSP00000329797:E119K;ENSP00000439696:E86K|.	ENSP00000329797:E119K|.	E|M	-|-	1|3	0|0	CADM1|CADM1	114614499|114614499	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.289000|7.289000	0.78701|0.78701	2.799000|2.799000	0.96334|0.96334	0.650000|0.650000	0.86243|0.86243	GAA|ATG		0.448	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		14	80	0	0	0	1	0	14	80				
ADRA2B	151	broad.mit.edu	37	2	96780975	96780977	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr2:96780975_96780977delTCC	ENST00000409345.3	-	1	1007_1009	c.912_914delGGA	c.(910-915)gaggaa>gaa	p.304_305EE>E		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	304	Asp/Glu-rich (acidic).				activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTCACActcttcctcctcctcct	0.655																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(910-915)gaa>ga		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)																																			SO:0001651	inframe_deletion	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96780975_96780977delTCC	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.912_914delGGA	2.37:g.96780984_96780986delTCC	ENSP00000387281:p.Glu306del						p.EE304del	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	1007_1009	-			307			Asp/Glu-rich (acidic).		Q4TUH9|Q53RF2|Q9BZK0	In_Frame_Del	DEL	ENST00000409345.3	37	c.912_914delGGA	CCDS56129.1																																																																																				0.655	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			3	3						3	3	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			0							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	5						3	5	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578435	7578436	+	Frame_Shift_Ins	INS	-	-	AGCA			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:7578435_7578436insAGCA	ENST00000269305.4	-	5	683_684	c.494_495insTGCT	c.(493-495)cagfs	p.Q165fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Q165fs	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	165	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Q165L(3)|p.Q165R(2)|p.S166fs*15(2)|p.Q165P(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q165fs*4(1)|p.Q165del(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.K164fs*5(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q165H(1)|p.Q165fs*16(1)|p.Q165_S166insXXX(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)	TGTGCTGTGACTGCTTGTAGAT	0.629		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		33	Whole gene deletion(8)|Substitution - Missense(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(3)|Insertion - In frame(1)	p.0?(8)|p.Q165L(3)|p.Q165R(2)|p.S166fs*15(2)|p.Q165P(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q165fs*4(1)|p.Q165del(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.K164fs*5(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q165H(1)|p.Q165fs*16(1)|p.Q165_S166insXXX(1)	haematopoietic_and_lymphoid_tissue(5)|stomach(4)|breast(4)|oesophagus(4)|bone(4)|central_nervous_system(3)|lung(3)|upper_aerodigestive_tract(1)|cervix(1)|large_intestine(1)|soft_tissue(1)|salivary_gland(1)|ovary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(493-495)ctcfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578435_7578436insAGCA	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.494_495insTGCT	17.37:g.7578435_7578436insAGCA	ENSP00000269305:p.Gln165fs	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_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Frame_Shift_Ins_p.L165fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.L165fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.L165fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.L165fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.L165fs	p.L165fs	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)	5	626_627	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	165		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.494_495insTGCT	CCDS11118.1																																																																																				0.629	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	46						16	46	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50113411	50113412	+	RNA	INS	-	-	G			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chrX:50113411_50113412insG	ENST00000376025.2	-	0	3795							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CCTCTGCCTGTGGGGGAGACTT	0.49																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa																																						139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50113411_50113412insG	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50113416_50113416dupG										Q5KSL6	DGKK_HUMAN			0	3795	-	Ovarian(276;0.236)							B2RP91	RNA	INS	ENST00000376025.2	37																																																																																						0.490	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		2	4						2	4	---	---	---	---
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-	rs373540942		TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chrY:10037863delC	ENST00000515896.1	+	0	100									RNA, 5.8S ribosomal pseudogene 6																		ATCGACACTTCGAACGCACTT	0.552																																						ENST00000515896.1																			0																																																			0							g.chrY:10037863delC			Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037863delC														0	100	+									RNA	DEL	ENST00000515896.1	37																																																																																						0.552	RNA5-8SP6-201	KNOWN	basic	rRNA	rRNA				3	5						3	5	---	---	---	---
