#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			3	55	0	0	0	1	0	3	55				
MAGI1	9223	broad.mit.edu	37	3	65376868	65376868	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr3:65376868G>T	ENST00000497477.2	-	14	2364	c.2365C>A	c.(2365-2367)Cca>Aca	p.P789T	MAGI1_ENST00000483466.1_Missense_Mutation_p.P789T|MAGI1_ENST00000402939.2_Missense_Mutation_p.P789T|MAGI1_ENST00000330909.8_Missense_Mutation_p.P789T			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	789					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.P789T(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AAAGGATCTGGTTTTTTCTGG	0.567																																						ENST00000330909.8																			2	Substitution - Missense(2)	p.P789T(2)	large_intestine(2)	breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2365-2367)Cca>Aca		membrane associated guanylate kinase, WW and PDZ domain containing 1							96.0	96.0	96.0					3																	65376868		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65376868G>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2365C>A	3.37:g.65376868G>T	ENSP00000424369:p.Pro789Thr					MAGI1_ENST00000497477.2_Missense_Mutation_p.P789T|MAGI1_ENST00000402939.2_Missense_Mutation_p.P789T|MAGI1_ENST00000483466.1_Missense_Mutation_p.P789T	p.P789T	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	14	2364	-		Lung NSC(201;0.0016)	789					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.2365C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.516730|4.516730	0.85495|0.85495	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.24908	.|2.42;2.21;2.21;2.22;1.83;2.02	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.103697	.|0.64402	.|D	.|0.000002	T|T	0.51278|0.51278	0.1665|0.1665	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;B;D;D;D	.|0.89917	.|0.998;0.033;1.0;1.0;0.998	.|D;B;D;D;D	.|0.87578	.|0.96;0.04;0.992;0.998;0.974	T|T	0.20472|0.20472	-1.0274|-1.0274	5|10	.|0.35671	.|T	.|0.21	-8.0913|-8.0913	20.5407|20.5407	0.99260|0.99260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|789;789;789;789;789	.|A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.;.	K|T	669|789;789;685;664;789;789;575	.|ENSP00000385450:P789T;ENSP00000331157:P789T;ENSP00000418177:P664T;ENSP00000420323:P789T;ENSP00000424369:P789T;ENSP00000420796:P575T	.|ENSP00000331157:P789T	N|P	-|-	3|1	2|0	MAGI1|MAGI1	65351908|65351908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	9.476000|9.476000	0.97823|0.97823	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	AAC|CCA		0.567	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		9	79	1	0	0.000274275	1	0.000274275	9	79				
DENND2C	163259	broad.mit.edu	37	1	115130509	115130509	+	Silent	SNP	A	A	G			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:115130509A>G	ENST00000393274.1	-	19	3121	c.2496T>C	c.(2494-2496)caT>caC	p.H832H	DENND2C_ENST00000393276.3_Silent_p.H775H|DENND2C_ENST00000393277.1_Silent_p.H720H|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	832	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAAAGAATAATGTCCTACCA	0.453																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(2494-2496)caT>caC		DENN/MADD domain containing 2C							81.0	73.0	75.0					1																	115130509		2203	4300	6503	SO:0001819	synonymous_variant	163259							g.chr1:115130509A>G		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2496T>C	1.37:g.115130509A>G						DENND2C_ENST00000393277.1_Silent_p.H720H|DENND2C_ENST00000393276.3_Silent_p.H775H|DENND2C_ENST00000481894.1_5'UTR	p.H832H	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	3121	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	832			dDENN.		B1AL26|Q5TCX6|Q6P3R3	Silent	SNP	ENST00000393274.1	37	c.2496T>C	CCDS58018.1																																																																																				0.453	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		9	42	0	0	0	1	0	9	42				
TESPA1	9840	broad.mit.edu	37	12	55357560	55357560	+	Silent	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr12:55357560C>T	ENST00000449076.1	-	8	753	c.621G>A	c.(619-621)agG>agA	p.R207R	TESPA1_ENST00000532804.1_Silent_p.R69R|TESPA1_ENST00000524622.1_Silent_p.R69R|TESPA1_ENST00000316577.8_Silent_p.R207R|TESPA1_ENST00000531122.1_Silent_p.R69R|TESPA1_ENST00000524959.1_5'UTR	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	207					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											CCATTTCAATCCTCCGCACCT	0.542																																						ENST00000524622.1																			0											c.(205-207)agG>agA		thymocyte expressed, positive selection associated 1							52.0	56.0	55.0					12																	55357560		1913	4126	6039	SO:0001819	synonymous_variant	9840							g.chr12:55357560C>T	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.621G>A	12.37:g.55357560C>T						TESPA1_ENST00000531122.1_Silent_p.R69R|TESPA1_ENST00000532804.1_Silent_p.R69R|TESPA1_ENST00000449076.1_Silent_p.R207R|TESPA1_ENST00000316577.8_Silent_p.R207R|TESPA1_ENST00000524959.1_5'UTR	p.R69R	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN			6	868	-			207					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Silent	SNP	ENST00000449076.1	37	c.207G>A	CCDS44913.1																																																																																				0.542	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		14	18	0	0	0	1	0	14	18				
AMZ1	155185	broad.mit.edu	37	7	2752024	2752024	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr7:2752024C>T	ENST00000312371.4	+	7	1377	c.1009C>T	c.(1009-1011)Ccg>Tcg	p.P337S	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Missense_Mutation_p.A280V	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	337							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GGCGGGGGAGCCGTCAGTGTG	0.672																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(1009-1011)Ccg>Tcg		archaelysin family metallopeptidase 1							24.0	28.0	27.0					7																	2752024		2200	4299	6499	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2752024C>T	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1009C>T	7.37:g.2752024C>T	ENSP00000308149:p.Pro337Ser					AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Missense_Mutation_p.A280V	p.P337S	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	7	1377	+		Ovarian(82;0.0779)	337					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.1009C>T	CCDS34589.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.201|4.201	0.036042|0.036042	0.08148|0.08148	.|.	.|.	ENSG00000174945|ENSG00000174945	ENST00000407112|ENST00000312371	T|T	0.36878|0.23552	1.23|1.9	4.66|4.66	2.44|2.44	0.29823|0.29823	.|.	.|0.247616	.|0.28130	.|N	.|0.016489	T|T	0.15955|0.15955	0.0384|0.0384	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B|B	0.06786|0.14438	0.001|0.01	B|B	0.09377|0.08055	0.004|0.003	T|T	0.26950|0.26950	-1.0088|-1.0088	9|10	0.52906|0.10636	T|T	0.07|0.68	-30.2079|-30.2079	8.629|8.629	0.33908|0.33908	0.0:0.7156:0.0:0.2844|0.0:0.7156:0.0:0.2844	.|.	280|337	B3KRS0|Q400G9	.|AMZ1_HUMAN	V|S	280|337	ENSP00000386020:A280V|ENSP00000308149:P337S	ENSP00000386020:A280V|ENSP00000308149:P337S	A|P	+|+	2|1	0|0	AMZ1|AMZ1	2718550|2718550	0.000000|0.000000	0.05858|0.05858	0.029000|0.029000	0.17559|0.17559	0.074000|0.074000	0.17049|0.17049	-0.545000|-0.545000	0.06069|0.06069	0.946000|0.946000	0.37632|0.37632	0.462000|0.462000	0.41574|0.41574	GCC|CCG		0.672	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		7	17	0	0	0	1	0	7	17				
CEP68	23177	broad.mit.edu	37	2	65299194	65299194	+	Missense_Mutation	SNP	C	C	T	rs201157959		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:65299194C>T	ENST00000377990.2	+	3	1167	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C	CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.R322C|CEP68_ENST00000546106.1_Missense_Mutation_p.R322C	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	322					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCTTGATAGCCGTGTGCCAGC	0.547																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(964-966)Cgt>Tgt		centrosomal protein 68kDa							84.0	94.0	91.0					2																	65299194		2203	4300	6503	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65299194C>T	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.964C>T	2.37:g.65299194C>T	ENSP00000367229:p.Arg322Cys					CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000546106.1_Missense_Mutation_p.R322C|CEP68_ENST00000260569.4_Missense_Mutation_p.R322C|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_5'UTR	p.R322C	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN			3	1167	+			322					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.964C>T	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052970	0.55218	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.15718	2.41;2.4;2.4	5.65	3.81	0.43845	.	0.812653	0.11540	N	0.553841	T	0.21103	0.0508	L	0.29908	0.895	0.09310	N	0.999998	D;D;D;D;D	0.76494	0.998;0.996;0.998;0.999;0.996	P;P;P;P;P	0.57776	0.731;0.648;0.731;0.827;0.736	T	0.13683	-1.0500	10	0.72032	D	0.01	-0.4907	3.9653	0.09429	0.1696:0.5808:0.1636:0.086	.	310;322;322;322;322	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	C	322;322;322;310	ENSP00000367229:R322C;ENSP00000438306:R322C;ENSP00000260569:R322C	ENSP00000260569:R322C	R	+	1	0	CEP68	65152698	0.000000	0.05858	0.090000	0.20809	0.680000	0.39746	0.369000	0.20416	1.344000	0.45657	0.484000	0.47621	CGT		0.547	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		20	74	0	0	0	1	0	20	74				
GLB1L	79411	broad.mit.edu	37	2	220108252	220108252	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:220108252G>A	ENST00000295759.7	-	2	357	c.44C>T	c.(43-45)cCg>cTg	p.P15L	STK16_ENST00000409516.3_5'Flank|STK16_ENST00000409260.1_5'Flank|STK16_ENST00000409638.3_5'Flank|STK16_ENST00000409743.1_5'Flank|GLB1L_ENST00000409640.1_Missense_Mutation_p.P15L|GLB1L_ENST00000392089.2_Missense_Mutation_p.P15L|GLB1L_ENST00000356283.3_Missense_Mutation_p.P15L|STK16_ENST00000396738.2_5'Flank			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	15					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGCTGAGCGGCAGCAGCAG	0.612																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(43-45)cCg>cTg		galactosidase, beta 1-like							77.0	67.0	70.0					2																	220108252		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220108252G>A		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.44C>T	2.37:g.220108252G>A	ENSP00000295759:p.Pro15Leu					GLB1L_ENST00000356283.3_Missense_Mutation_p.P15L|GLB1L_ENST00000409640.1_Missense_Mutation_p.P15L|GLB1L_ENST00000392089.2_Missense_Mutation_p.P15L	p.P15L			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	357	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	15					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.44C>T	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571796	0.45798	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283;ENST00000428427;ENST00000424620	D;D;D;D;D	0.96745	-4.11;-3.88;-4.11;-3.88;-3.15	4.97	-8.37	0.00976	.	1.389420	0.04151	N	0.321248	D	0.86301	0.5900	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.81709	-0.0809	10	0.11182	T	0.66	1.4498	4.5354	0.12026	0.5913:0.099:0.1192:0.1905	.	15;15	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	L	15	ENSP00000295759:P15L;ENSP00000386354:P15L;ENSP00000375939:P15L;ENSP00000348628:P15L;ENSP00000400738:P15L	ENSP00000295759:P15L	P	-	2	0	GLB1L	219816496	0.002000	0.14202	0.001000	0.08648	0.660000	0.38997	-0.805000	0.04530	-1.875000	0.01132	0.563000	0.77884	CCG		0.612	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		12	36	0	0	0	1	0	12	36				
FBXO47	494188	broad.mit.edu	37	17	37118156	37118156	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:37118156G>A	ENST00000378079.2	-	3	525	c.326C>T	c.(325-327)gCt>gTt	p.A109V		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	109								p.A109V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CTCCAGTATAGCAGAGTCTTG	0.358																																						ENST00000378079.2																			1	Substitution - Missense(1)	p.A109V(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						c.(325-327)gCt>gTt		F-box protein 47							165.0	154.0	158.0					17																	37118156		2203	4300	6503	SO:0001583	missense	494188							g.chr17:37118156G>A		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.326C>T	17.37:g.37118156G>A	ENSP00000367319:p.Ala109Val						p.A109V	NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN			3	525	-			109					B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	37	c.326C>T	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426281	0.25726	.	.	ENSG00000204952	ENST00000378079	T	0.69306	-0.39	5.59	-1.86	0.07760	.	1.082310	0.06882	N	0.802676	T	0.49406	0.1555	L	0.40543	1.245	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.28776	-1.0033	10	0.27082	T	0.32	0.2948	1.4144	0.02299	0.1587:0.3129:0.2276:0.3008	.	109	Q5MNV8	FBX47_HUMAN	V	109	ENSP00000367319:A109V	ENSP00000367319:A109V	A	-	2	0	FBXO47	34371682	0.000000	0.05858	0.001000	0.08648	0.953000	0.61014	-1.413000	0.02473	0.026000	0.15269	0.462000	0.41574	GCT		0.358	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		40	41	0	0	0	1	0	40	41				
ABCA3	21	broad.mit.edu	37	16	2338249	2338249	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr16:2338249C>A	ENST00000301732.5	-	21	3482	c.2782G>T	c.(2782-2784)Gca>Tca	p.A928S	ABCA3_ENST00000382381.3_Missense_Mutation_p.A870S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	928					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AGGACCTGTGCCGCCACCATT	0.637																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(2782-2784)Gca>Tca		ATP-binding cassette, sub-family A (ABC1), member 3							40.0	34.0	36.0					16																	2338249		2197	4298	6495	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2338249C>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2782G>T	16.37:g.2338249C>A	ENSP00000301732:p.Ala928Ser					ABCA3_ENST00000382381.3_Missense_Mutation_p.A870S	p.A928S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			21	3482	-		Ovarian(90;0.17)	928					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.2782G>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658173	0.47467	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.86694	-2.16	5.54	3.52	0.40303	.	0.057553	0.64402	D	0.000002	T	0.78842	0.4347	N	0.21617	0.685	0.80722	D	1	B;B	0.29341	0.036;0.242	B;B	0.29353	0.03;0.101	T	0.72347	-0.4321	10	0.26408	T	0.33	.	14.7946	0.69868	0.0:0.7254:0.2746:0.0	.	932;928	Q4LE27;Q99758	.;ABCA3_HUMAN	S	928;932	ENSP00000301732:A928S	ENSP00000301732:A928S	A	-	1	0	ABCA3	2278250	1.000000	0.71417	0.010000	0.14722	0.531000	0.34715	7.402000	0.79972	0.833000	0.34828	0.655000	0.94253	GCA		0.637	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		5	14	1	0	2.0095e-06	1	2.06308e-06	5	14				
CACNA1I	8911	broad.mit.edu	37	22	40037050	40037050	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr22:40037050C>T	ENST00000402142.3	+	6	919	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	CACNA1I_ENST00000407673.1_Missense_Mutation_p.R307C|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R307C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R307C|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R307C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R307C	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	307					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGGCGGGGCGCCAGGACCT	0.617																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(919-921)Cgc>Tgc		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						59.0	65.0	63.0					22																	40037050		2046	4190	6236	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40037050C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.919C>T	22.37:g.40037050C>T	ENSP00000385019:p.Arg307Cys					CACNA1I_ENST00000400164.3_Missense_Mutation_p.R307C|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R307C|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R307C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R307C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R307C	p.R307C			Q9P0X4	CAC1I_HUMAN			8	919	+	Melanoma(58;0.0749)		307					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.919C>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750068	0.69533	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96967	-4.17;-4.11;-4.16;-4.12;-4.19;-4.08	5.21	5.21	0.72293	Ion transport (1);	0.204000	0.43416	D	0.000572	D	0.93769	0.8008	N	0.03050	-0.425	0.44736	D	0.99773	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;P;D;P	0.62955	0.909;0.854;0.909;0.877	D	0.95224	0.8336	10	0.56958	D	0.05	.	14.4848	0.67609	0.1475:0.8525:0.0:0.0	.	307;307;307;307	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	C	307	ENSP00000385019:R307C;ENSP00000384093:R307C;ENSP00000383887:R307C;ENSP00000385680:R307C;ENSP00000337829:R307C;ENSP00000383028:R307C	ENSP00000337829:R307C	R	+	1	0	CACNA1I	38366996	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.716000	0.37981	2.445000	0.82738	0.563000	0.77884	CGC		0.617	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		4	101	0	0	0	1	0	4	101				
MIR526B	574468	broad.mit.edu	37	19	54198493	54198493	+	RNA	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:54198493G>A	ENST00000384848.1	+	0	83				MIR519B_ENST00000385090.1_RNA|MIR525_ENST00000384978.1_RNA	NR_030190.1				microRNA 526b																		AGAGGGAAGCGCTTTCTGTTG	0.403																																						ENST00000385090.1																			0																				142.0	132.0	135.0					19																	54198493		1568	3582	5150			0							g.chr19:54198493G>A			19q13.42	2011-09-12		2008-12-18	ENSG00000207580	ENSG00000207580		"""ncRNAs / Micro RNAs"""	32100	non-coding RNA	RNA, micro				MIRN526B			Standard	NR_030190		Approved	hsa-mir-526b	uc021uzt.1				19.37:g.54198493G>A								NR_030191.1						0	27	+									RNA	SNP	ENST00000384848.1	37																																																																																						0.403	MIR526B-201	KNOWN	basic	miRNA	miRNA		NR_030190		94	76	0	0	0	1	0	94	76				
TENM2	57451	broad.mit.edu	37	5	167675300	167675300	+	Silent	SNP	G	G	A	rs372106540	byFrequency	TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr5:167675300G>A	ENST00000518659.1	+	27	7395	c.7356G>A	c.(7354-7356)ccG>ccA	p.P2452P	TENM2_ENST00000545108.1_Silent_p.P2451P|TENM2_ENST00000520394.1_Silent_p.P2213P|TENM2_ENST00000403607.2_Silent_p.P2276P|TENM2_ENST00000519204.1_Silent_p.P2331P	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2452					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GCAAGGAGCCGGCCCCCTTTA	0.507													G|||	5	0.000998403	0.0038	0.0	5008	,	,		19632	0.0		0.0	False		,,,				2504	0.0					ENST00000519204.1																			0											c.(6991-6993)ccG>ccA		teneurin transmembrane protein 2		G		3,3879		0,3,1938	62.0	62.0	62.0		7329	-8.7	0.7	5		62	0,8276		0,0,4138	no	coding-synonymous	ODZ2	NM_001122679.1		0,3,6076	AA,AG,GG		0.0,0.0773,0.0247		2443/2766	167675300	3,12155	1941	4138	6079	SO:0001819	synonymous_variant	57451							g.chr5:167675300G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7356G>A	5.37:g.167675300G>A						TENM2_ENST00000403607.2_Silent_p.P2276P|TENM2_ENST00000518659.1_Silent_p.P2452P|TENM2_ENST00000520394.1_Silent_p.P2213P|TENM2_ENST00000545108.1_Silent_p.P2451P	p.P2331P							26	7111	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.6993G>A																																																																																					0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		8	35	0	0	0	1	0	8	35				
PRR12	57479	broad.mit.edu	37	19	50099877	50099877	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:50099877A>G	ENST00000418929.2	+	4	2297	c.2285A>G	c.(2284-2286)aAg>aGg	p.K762R		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TTCTTGCAAAAGAGCCCTCCG	0.697																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(2284-2286)aAg>aGg		proline rich 12							10.0	13.0	12.0					19																	50099877		1873	4043	5916	SO:0001583	missense	57479						DNA binding	g.chr19:50099877A>G	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2285A>G	19.37:g.50099877A>G	ENSP00000394510:p.Lys762Arg						p.K762R	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	2297	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	470					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.2285A>G	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	A	5.051	0.195094	0.09599	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.66	3.66	0.41972	.	.	.	.	.	T	0.24928	0.0605	.	.	.	0.25888	N	0.983511	B	0.23128	0.08	B	0.19946	0.027	T	0.13791	-1.0496	7	0.14252	T	0.57	.	10.1899	0.43019	1.0:0.0:0.0:0.0	.	762	Q9ULL5-3	.	R	762	.	ENSP00000394510:K762R	K	+	2	0	PRR12	54791689	0.986000	0.35501	1.000000	0.80357	0.265000	0.26407	1.874000	0.39568	1.673000	0.50895	0.260000	0.18958	AAG		0.697	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		9	13	0	0	0	1	0	9	13				
GGCX	2677	broad.mit.edu	37	2	85780433	85780433	+	Silent	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:85780433G>A	ENST00000233838.4	-	8	1157	c.1077C>T	c.(1075-1077)cgC>cgT	p.R359R	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Silent_p.R302R	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	359					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	CCAGCTGATGGCGCAGCCCTG	0.577																																						ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(1075-1077)cgC>cgT		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						73.0	80.0	78.0					2																	85780433		2203	4300	6503	SO:0001819	synonymous_variant	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85780433G>A		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1077C>T	2.37:g.85780433G>A						GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Silent_p.R302R	p.R359R	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN			8	1157	-			359					B4DMC5|E9PEE1|Q14415|Q6GU45	Silent	SNP	ENST00000233838.4	37	c.1077C>T	CCDS1978.1																																																																																				0.577	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		17	105	0	0	0	1	0	17	105				
PCDHAC1	56135	broad.mit.edu	37	5	140307730	140307730	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr5:140307730C>T	ENST00000253807.2	+	1	1253	c.1253C>T	c.(1252-1254)tCa>tTa	p.S418L	PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S418L|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACGGCCTCAGATAGTGGC	0.517																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(1252-1254)tCa>tTa									76.0	75.0	76.0					5																	140307730		2203	4300	6503	SO:0001583	missense	0							g.chr5:140307730C>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1253C>T	5.37:g.140307730C>T	ENSP00000253807:p.Ser418Leu					PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S418L|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.S418L	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1253	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.1253C>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645779	0.29246	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.01787	4.64;4.64	5.81	3.0	0.34707	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.02727	0.0082	L	0.41415	1.275	0.18873	N	0.999987	P;P	0.48998	0.918;0.728	P;B	0.45712	0.491;0.343	T	0.47898	-0.9081	9	0.54805	T	0.06	.	9.7401	0.40413	0.0:0.7556:0.1151:0.1293	.	418;418	Q9H158;Q9H158-2	PCDC1_HUMAN;.	L	418	ENSP00000386356:S418L;ENSP00000253807:S418L	ENSP00000253807:S418L	S	+	2	0	PCDHAC1	140287914	0.000000	0.05858	0.540000	0.28089	0.452000	0.32318	0.802000	0.27069	0.775000	0.33450	0.462000	0.41574	TCA		0.517	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		19	46	0	0	0	1	0	19	46				
IGHV1-18	28468	broad.mit.edu	37	14	106641975	106641975	+	RNA	SNP	A	A	G			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr14:106641975A>G	ENST00000390605.2	-	0	81									immunoglobulin heavy variable 1-18																		CACCAAGAAAAGGATGCTCCA	0.557																																						ENST00000390605.2																			0																				57.0	55.0	55.0					14																	106641975		1914	4117	6031			0							g.chr14:106641975A>G	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641975A>G														0	81	-									RNA	SNP	ENST00000390605.2	37																																																																																						0.557	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		5	50	0	0	0	1	0	5	50				
DNAH9	1770	broad.mit.edu	37	17	11835397	11835397	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:11835397C>T	ENST00000262442.4	+	64	12240	c.12172C>T	c.(12172-12174)Cat>Tat	p.H4058Y	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.H370Y|DNAH9_ENST00000454412.2_Missense_Mutation_p.H3982Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4058	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGTTACTTCCATGCGGTGGT	0.483																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(12172-12174)Cat>Tat		dynein, axonemal, heavy chain 9							282.0	258.0	266.0					17																	11835397		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11835397C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12172C>T	17.37:g.11835397C>T	ENSP00000262442:p.His4058Tyr					DNAH9_ENST00000454412.2_Missense_Mutation_p.H3982Y|DNAH9_ENST00000396001.2_Missense_Mutation_p.H370Y	p.H4058Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	64	12240	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4058			AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.12172C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508519	0.64410	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.34072	1.38;1.38;1.38	4.96	4.96	0.65561	Dynein heavy chain (1);	0.052528	0.64402	D	0.000001	T	0.78960	0.4366	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89114	0.3498	10	0.87932	D	0	.	18.4116	0.90554	0.0:1.0:0.0:0.0	.	4058	Q9NYC9	DYH9_HUMAN	Y	4058;3982;2564;370	ENSP00000262442:H4058Y;ENSP00000414874:H3982Y;ENSP00000379323:H370Y	ENSP00000262442:H4058Y	H	+	1	0	DNAH9	11776122	1.000000	0.71417	0.841000	0.33234	0.061000	0.15899	7.609000	0.82925	2.564000	0.86499	0.563000	0.77884	CAT		0.483	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		54	192	0	0	0	1	0	54	192				
WASH6P	653440	broad.mit.edu	37	X	155255062	155255062	+	RNA	SNP	C	C	G			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chrX:155255062C>G	ENST00000461007.1	+	0	3978				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CACCTTCCCCCCCAGACCCAG	0.627																																						ENST00000285718.7																			0																																																			0							g.chrX:155255062C>G	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255062C>G						WASH6P_ENST00000461007.1_RNA								0	1367	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.627	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		5	28	0	0	0	1	0	5	28				
BCL9	607	broad.mit.edu	37	1	147091685	147091685	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:147091685G>A	ENST00000234739.3	+	8	2464	c.1724G>A	c.(1723-1725)gGg>gAg	p.G575E		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	575	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.G575V(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GAAATGGAAGGGCCGAATGTC	0.557			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		1	Substitution - Missense(1)	p.G575V(1)	lung(1)	breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1723-1725)gGg>gAg		B-cell CLL/lymphoma 9							81.0	88.0	85.0					1																	147091685		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091685G>A	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1724G>A	1.37:g.147091685G>A	ENSP00000234739:p.Gly575Glu						p.G575E	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2464	+	all_hematologic(923;0.115)		575			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.1724G>A	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295898	0.60086	.	.	ENSG00000116128	ENST00000234739	T	0.50277	0.75	5.41	4.48	0.54585	.	0.047714	0.85682	D	0.000000	T	0.51618	0.1685	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.993;0.999	P;D	0.63597	0.861;0.916	T	0.55903	-0.8067	10	0.51188	T	0.08	-5.1965	16.2793	0.82664	0.0:0.1326:0.8674:0.0	.	575;575	Q1JQ81;O00512	.;BCL9_HUMAN	E	575	ENSP00000234739:G575E	ENSP00000234739:G575E	G	+	2	0	BCL9	145558309	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.789000	0.85783	1.489000	0.48450	0.561000	0.74099	GGG		0.557	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		4	108	0	0	0	1	0	4	108				
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	50								p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L50P(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(148-150)cTt>cCt																																						SO:0001583	missense	0							g.chr20:29625905T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.149T>C	20.37:g.29625905T>C	ENSP00000278882:p.Leu50Pro					FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P	p.L50P							5	529	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.149T>C		.	.	.	.	.	.	.	.	.	.	t	10.74	1.434729	0.25813	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56611	0.45	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	55	F5H5R5	.	P	50;55;50	ENSP00000408863:L55P	ENSP00000278882:L50P	L	+	2	0	FRG1B	28239566	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	CTT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	121	0	0	0	1	0	5	121				
TP53	7157	broad.mit.edu	37	17	7578458	7578458	+	Missense_Mutation	SNP	G	G	T	rs587780068		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:7578458G>T	ENST00000269305.4	-	5	661	c.472C>A	c.(472-474)Cgc>Agc	p.R158S	TP53_ENST00000413465.2_Missense_Mutation_p.R158S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R158S|TP53_ENST00000455263.2_Missense_Mutation_p.R158S|TP53_ENST00000359597.4_Missense_Mutation_p.R158S|TP53_ENST00000445888.2_Missense_Mutation_p.R158S	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	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)	GCCATGGCGCGGACGCGGGTG	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		98	Substitution - Missense(38)|Deletion - Frameshift(26)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Complex - frameshift(2)|Insertion - Frameshift(1)	p.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(25)|central_nervous_system(21)|stomach(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|upper_aerodigestive_tract(5)|breast(4)|oesophagus(4)|bone(4)|urinary_tract(3)|ovary(2)|pancreas(2)|liver(2)|soft_tissue(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004341	TP53	M		c.(472-474)Cgc>Agc	Other conserved DNA damage response genes	tumor protein p53							51.0	52.0	51.0					17																	7578458		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578458G>T	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.472C>A	17.37:g.7578458G>T	ENSP00000269305:p.Arg158Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.R158S|TP53_ENST00000445888.2_Missense_Mutation_p.R158S|TP53_ENST00000455263.2_Missense_Mutation_p.R158S|TP53_ENST00000359597.4_Missense_Mutation_p.R158S|TP53_ENST00000269305.4_Missense_Mutation_p.R158S	p.R158S	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	604	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	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	Missense_Mutation	SNP	ENST00000269305.4	37	c.472C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843183	0.51057	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99865	-7.29;-7.29;-7.29;-7.29;-7.29;-7.29;-7.29;-7.29;-7.29	5.59	3.57	0.40892	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	N	0.000010	D	0.99851	0.9931	M	0.92026	3.265	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.993;0.994;0.998;0.996;0.991;1.0	D	0.97453	1.0029	10	0.87932	D	0	-10.4795	9.778	0.40632	0.0776:0.1408:0.7816:0.0	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158S;ENSP00000352610:R158S;ENSP00000269305:R158S;ENSP00000398846:R158S;ENSP00000391127:R158S;ENSP00000391478:R158S;ENSP00000425104:R26S;ENSP00000423862:R65S;ENSP00000424104:R158S	ENSP00000269305:R158S	R	-	1	0	TP53	7519183	1.000000	0.71417	0.034000	0.17996	0.178000	0.23041	2.597000	0.46214	0.818000	0.34468	0.655000	0.94253	CGC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	3	1	0	3.90053e-15	1	4.11425e-15	29	3				
ZNF671	79891	broad.mit.edu	37	19	58232671	58232671	+	Silent	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:58232671G>A	ENST00000317398.6	-	4	878	c.783C>T	c.(781-783)gcC>gcT	p.A261A	ZNF671_ENST00000335820.3_Silent_p.A163A|ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGCTGAGAGAGGCCTGATGCT	0.517																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(781-783)gcC>gcT		zinc finger protein 671							77.0	71.0	73.0					19																	58232671		2203	4300	6503	SO:0001819	synonymous_variant	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232671G>A		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.783C>T	19.37:g.58232671G>A						AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.A163A	p.A261A	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	878	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	261					A6NF07|Q9H5E9	Silent	SNP	ENST00000317398.6	37	c.783C>T	CCDS12961.1																																																																																				0.517	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		12	52	0	0	0	1	0	12	52				
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29231546	29231546	+	lincRNA	SNP	G	G	A	rs369399120		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr6:29231546G>A	ENST00000441381.1	+	0	79																											CGTGCATAGCGTCACATTAGT	0.433													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19301	0.0		0.0	False		,,,				2504	0.0					ENST00000441381.1																			0															G		2,3974		0,2,1986	206.0	195.0	199.0			0.7	0.0	6		199	0,8370		0,0,4185	no	intergenic				0,2,6171	AA,AG,GG		0.0,0.0503,0.0162			29231546	2,12344	1988	4185	6173			0							g.chr6:29231546G>A																													6.37:g.29231546G>A														0	79	+									RNA	SNP	ENST00000441381.1	37																																																																																						0.433	XXbac-BPG308J9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000192829.1			49	182	0	0	0	1	0	49	182				
FAM213B	127281	broad.mit.edu	37	1	2519968	2519968	+	Intron	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:2519968G>A	ENST00000378425.5	+	5	460				FAM213B_ENST00000444521.2_Intron|FAM213B_ENST00000378424.4_Intron|FAM213B_ENST00000419916.2_Intron|FAM213B_ENST00000484099.1_Splice_Site|FAM213B_ENST00000537325.1_Intron			Q8TBF2	PGFS_HUMAN	family with sequence similarity 213, member B						arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|myelin sheath (GO:0043209)	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|prostaglandin-F synthase activity (GO:0047017)										GATTGACTCAGGCTGTACCCA	0.632																																						ENST00000484099.1																			0											c.e4-1		family with sequence similarity 213, member B							113.0	132.0	126.0					1																	2519968		2203	4300	6503	SO:0001627	intron_variant	127281				prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr1:2519968G>A	AK075273	CCDS44.1, CCDS44.2, CCDS55564.1, CCDS72690.1, CCDS72691.1	1p36.32	2011-12-08	2011-11-24	2011-11-24	ENSG00000157870	ENSG00000157870	1.11.1.20		28390	protein-coding gene	gene with protein product	"""prostamide/prostaglandin F synthase"""		"""chromosome 1 open reading frame 93"""	C1orf93		18006499	Standard	NM_152371		Approved	MGC26818	uc001ajv.2	Q8TBF2	OTTHUMG00000000847	ENST00000378425.5:c.385-21G>A	1.37:g.2519968G>A						FAM213B_ENST00000378424.4_Intron|FAM213B_ENST00000419916.2_Intron|FAM213B_ENST00000378425.5_Intron|FAM213B_ENST00000537325.1_Intron|FAM213B_ENST00000444521.2_Intron		NR_036638.1		Q8TBF2	PGFS_HUMAN			4	334	+								A8K793|B3KPY3|B4DQR9|B4E0S5|B7ZAC8|B9DI90|B9DI92|J3KQD0|Q8N2H0	Splice_Site	SNP	ENST00000378425.5	37																																																																																						0.632	FAM213B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152371		66	90	0	0	0	1	0	66	90				
WASH6P	653440	broad.mit.edu	37	X	155255043	155255043	+	RNA	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chrX:155255043G>A	ENST00000461007.1	+	0	3959				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										ATCCTAGGGGGCTCCATGACA	0.642																																						ENST00000285718.7																			0																																																			0							g.chrX:155255043G>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255043G>A						WASH6P_ENST00000461007.1_RNA								0	1348	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.642	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		5	33	0	0	0	1	0	5	33				
ATXN2L	11273	broad.mit.edu	37	16	28846701	28846701	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr16:28846701C>T	ENST00000336783.4	+	20	2833	c.2666C>T	c.(2665-2667)gCg>gTg	p.A889V	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.A889V|ATXN2L_ENST00000340394.8_Missense_Mutation_p.A889V|ATXN2L_ENST00000564304.1_Missense_Mutation_p.A895V|ATXN2L_ENST00000382686.4_Missense_Mutation_p.A889V|ATXN2L_ENST00000325215.6_Missense_Mutation_p.A889V|ATXN2L_ENST00000395547.2_Missense_Mutation_p.A889V	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	889					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCCAGCATGCGGCCCCCAGT	0.632																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2665-2667)gCg>gTg		ataxin 2-like							45.0	44.0	44.0					16																	28846701		2197	4299	6496	SO:0001583	missense	11273					membrane		g.chr16:28846701C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2666C>T	16.37:g.28846701C>T	ENSP00000338718:p.Ala889Val					ATXN2L_ENST00000395547.2_Missense_Mutation_p.A889V|ATXN2L_ENST00000382686.4_Missense_Mutation_p.A889V|ATXN2L_ENST00000340394.8_Missense_Mutation_p.A889V|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Missense_Mutation_p.A889V|ATXN2L_ENST00000570200.1_Missense_Mutation_p.A889V|ATXN2L_ENST00000564304.1_Missense_Mutation_p.A895V	p.A889V	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			20	2833	+			889					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.2666C>T	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	11.14	1.552144	0.27739	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.50548	0.74;0.76;0.74;0.74;0.75	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000006	T	0.55862	0.1947	N	0.24115	0.695	0.51012	D	0.999907	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.78314	0.991;0.98;0.98;0.991;0.991;0.98;0.991	T	0.57596	-0.7784	10	0.48119	T	0.1	-10.6994	17.2962	0.87171	0.0:1.0:0.0:0.0	.	889;889;889;889;889;889;889	Q8WWM7-6;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;ATX2L_HUMAN;.;.;.;.	V	889	ENSP00000341459:A889V;ENSP00000378917:A889V;ENSP00000338718:A889V;ENSP00000372133:A889V;ENSP00000315650:A889V	ENSP00000315650:A889V	A	+	2	0	ATXN2L	28754202	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.609000	0.61148	2.613000	0.88420	0.563000	0.77884	GCG		0.632	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		3	34	0	0	0	1	0	3	34				
LPHN2	23266	broad.mit.edu	37	1	82421687	82421687	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:82421687G>T	ENST00000370728.1	+	13	2593	c.1948G>T	c.(1948-1950)Gtc>Ttc	p.V650F	LPHN2_ENST00000394879.1_Missense_Mutation_p.V637F|LPHN2_ENST00000370725.1_Missense_Mutation_p.V650F|LPHN2_ENST00000370713.1_Missense_Mutation_p.V637F|LPHN2_ENST00000370723.1_Missense_Mutation_p.V637F|LPHN2_ENST00000271029.4_Missense_Mutation_p.V650F|LPHN2_ENST00000319517.6_Missense_Mutation_p.V637F|LPHN2_ENST00000370717.2_Missense_Mutation_p.V650F|LPHN2_ENST00000370727.1_Missense_Mutation_p.V650F|LPHN2_ENST00000370730.1_Missense_Mutation_p.V650F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Missense_Mutation_p.V637F|LPHN2_ENST00000335786.5_Missense_Mutation_p.V650F|LPHN2_ENST00000370721.1_Missense_Mutation_p.V575F|LPHN2_ENST00000370715.1_Missense_Mutation_p.V637F			O95490	LPHN2_HUMAN	latrophilin 2	650					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGGAGCTTTTGTCCTAGCTGA	0.368																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(1948-1950)Gtc>Ttc		latrophilin 2							109.0	101.0	104.0					1																	82421687		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82421687G>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1948G>T	1.37:g.82421687G>T	ENSP00000359763:p.Val650Phe					LPHN2_ENST00000271029.4_Missense_Mutation_p.V650F|LPHN2_ENST00000370730.1_Missense_Mutation_p.V650F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.V637F|LPHN2_ENST00000370721.1_Missense_Mutation_p.V575F|LPHN2_ENST00000394879.1_Missense_Mutation_p.V637F|LPHN2_ENST00000370725.1_Missense_Mutation_p.V650F|LPHN2_ENST00000370715.1_Missense_Mutation_p.V637F|LPHN2_ENST00000359929.3_Missense_Mutation_p.V637F|LPHN2_ENST00000370717.2_Missense_Mutation_p.V650F|LPHN2_ENST00000370713.1_Missense_Mutation_p.V637F|LPHN2_ENST00000335786.5_Missense_Mutation_p.V650F|LPHN2_ENST00000370723.1_Missense_Mutation_p.V637F|LPHN2_ENST00000370727.1_Missense_Mutation_p.V650F	p.V650F			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	13	2593	+			650					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1948G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.619543|4.619543	0.87460|0.87460	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.10960	.|2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24198|0.24198	0.0586|0.0586	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.76494	.|0.948;0.999;0.991	.|P;D;P	.|0.69307	.|0.747;0.963;0.804	T|T	0.00891|0.00891	-1.1525|-1.1525	5|10	.|0.72032	.|D	.|0.01	.|.	19.3323|19.3323	0.94295|0.94295	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|637;637;637	.|O95490-3;O95490-4;O95490-2	.|.;.;.	F|F	517|575;650;650;650;650;637;637;637;637;637;650;637;650;650	.|ENSP00000359756:V575F;ENSP00000359763:V650F;ENSP00000359765:V650F;ENSP00000359762:V650F;ENSP00000359760:V650F;ENSP00000359758:V637F;ENSP00000353006:V637F;ENSP00000359750:V637F;ENSP00000359748:V637F;ENSP00000322270:V637F;ENSP00000359752:V650F;ENSP00000378344:V637F;ENSP00000271029:V650F;ENSP00000337306:V650F	.|ENSP00000271029:V650F	L|V	+|+	3|1	2|0	LPHN2|LPHN2	82194275|82194275	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.476000|9.476000	0.97823|0.97823	2.568000|2.568000	0.86640|0.86640	0.467000|0.467000	0.42956|0.42956	TTG|GTC		0.368	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		27	34	1	0	1.16021e-09	1	1.20724e-09	27	34				
TRPV1	7442	broad.mit.edu	37	17	3491593	3491593	+	Silent	SNP	G	G	A	rs568215049	byFrequency	TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:3491593G>A	ENST00000571088.1	-	7	1326	c.1113C>T	c.(1111-1113)acC>acT	p.T371T	TRPV1_ENST00000310522.5_Intron|TRPV1_ENST00000399759.3_Silent_p.T371T|TRPV1_ENST00000425167.2_Silent_p.T382T|TRPV1_ENST00000174621.6_Silent_p.T369T|TRPV1_ENST00000399756.4_Silent_p.T371T|SHPK_ENST00000572705.1_Silent_p.T371T|TRPV1_ENST00000576351.1_Silent_p.T371T	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	371					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGGCCCACTCGGTGAACTTCC	0.637													G|||	2	0.000399361	0.0	0.0	5008	,	,		17453	0.0		0.0	False		,,,				2504	0.002				Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1105-1107)acC>acT		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						27.0	34.0	31.0					17																	3491593		2049	4196	6245	SO:0001819	synonymous_variant	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3491593G>A	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1113C>T	17.37:g.3491593G>A						TRPV1_ENST00000399756.4_Silent_p.T371T|TRPV1_ENST00000425167.2_Silent_p.T382T|TRPV1_ENST00000571088.1_Silent_p.T371T|TRPV1_ENST00000399759.3_Silent_p.T371T|SHPK_ENST00000572705.1_Silent_p.T371T|TRPV1_ENST00000310522.5_Intron|TRPV1_ENST00000576351.1_Silent_p.T371T	p.T369T			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	6	1396	-			371					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Silent	SNP	ENST00000571088.1	37	c.1107C>T	CCDS45576.1																																																																																				0.637	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		5	3	0	0	0	1	0	5	3				
NDST1	3340	broad.mit.edu	37	5	149915331	149915331	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr5:149915331G>A	ENST00000261797.6	+	6	1823	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	NDST1_ENST00000523767.1_Missense_Mutation_p.V441M	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	441	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCGTGCACGTGCAGCTGTA	0.647																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1321-1323)Gtg>Atg		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1							88.0	72.0	77.0					5																	149915331		2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149915331G>A	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1321G>A	5.37:g.149915331G>A	ENSP00000261797:p.Val441Met					NDST1_ENST00000523767.1_Missense_Mutation_p.V441M	p.V441M	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1823	+		all_hematologic(541;0.224)	441			Heparan sulfate N-deacetylase 1.		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.1321G>A	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066559	0.36470	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.43294	0.95;1.27	4.79	2.97	0.34412	.	0.311519	0.38111	N	0.001811	T	0.24275	0.0588	N	0.11560	0.145	0.42796	D	0.993914	B;B;B	0.21821	0.056;0.061;0.056	B;B;B	0.21151	0.027;0.033;0.027	T	0.08534	-1.0717	10	0.49607	T	0.09	.	11.8995	0.52675	0.1505:0.0:0.8495:0.0	.	441;441;441	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	M	441	ENSP00000428604:V441M;ENSP00000261797:V441M	ENSP00000261797:V441M	V	+	1	0	NDST1	149895524	0.981000	0.34729	0.872000	0.34217	0.861000	0.49209	2.010000	0.40913	1.152000	0.42452	-0.137000	0.14449	GTG		0.647	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		12	22	0	0	0	1	0	12	22				
C12orf42	374470	broad.mit.edu	37	12	103700000	103700000	+	Missense_Mutation	SNP	C	C	T	rs199701137		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr12:103700000C>T	ENST00000378113.2	-	5	608	c.383G>A	c.(382-384)cGt>cAt	p.R128H	C12orf42_ENST00000548048.1_Missense_Mutation_p.R61H|C12orf42_ENST00000548883.1_Missense_Mutation_p.R128H|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548789.1_5'UTR	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	128								p.R128H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TGGAGAGGAACGGAATTCTTC	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18183	0.0		0.0	False		,,,				2504	0.0					ENST00000548048.1																			1	Substitution - Missense(1)	p.R128H(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(181-183)cGt>cAt		chromosome 12 open reading frame 42		C	HIS/ARG,HIS/ARG	3,3703		0,3,1850	83.0	84.0	84.0		383,383	0.2	0.0	12		84	1,8195		0,1,4097	no	missense,missense	C12orf42	NM_001099336.1,NM_198521.2	29,29	0,4,5947	TT,TC,CC		0.0122,0.0809,0.0336	possibly-damaging,possibly-damaging	128/361,128/361	103700000	4,11898	1853	4098	5951	SO:0001583	missense	374470							g.chr12:103700000C>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.383G>A	12.37:g.103700000C>T	ENSP00000367353:p.Arg128His					C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000378113.2_Missense_Mutation_p.R128H|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.R128H	p.R61H			Q96LP6	CL042_HUMAN			8	678	-			128					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.182G>A	CCDS44963.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.155	0.027219	0.08054	8.09E-4	1.22E-4	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113;ENST00000552578	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.22	0.188	0.15114	.	2.752080	0.01310	N	0.010595	T	0.19248	0.0462	N	0.08118	0	0.09310	N	1	P	0.52692	0.955	B	0.38562	0.276	T	0.15093	-1.0449	10	0.12766	T	0.61	2.5403	3.721	0.08456	0.3678:0.4415:0.0:0.1907	.	128	Q96LP6	CL042_HUMAN	H	128;61;128;128	ENSP00000447908:R128H;ENSP00000449362:R61H;ENSP00000367353:R128H;ENSP00000447795:R128H	ENSP00000367353:R128H	R	-	2	0	C12orf42	102224130	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.991000	0.03728	0.034000	0.15491	-0.242000	0.12053	CGT		0.468	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		11	24	0	0	0	1	0	11	24				
MRPL27	51264	broad.mit.edu	37	17	48447454	48447454	+	Missense_Mutation	SNP	T	T	C	rs148980265		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:48447454T>C	ENST00000225969.4	-	3	222	c.179A>G	c.(178-180)tAt>tGt	p.Y60C	MRPL27_ENST00000503633.1_Missense_Mutation_p.Y60C|MRPL27_ENST00000511860.1_Missense_Mutation_p.Y5C|MRPL27_ENST00000507088.1_Missense_Mutation_p.Y5C|MRPL27_ENST00000442592.3_Missense_Mutation_p.Y60C	NM_016504.2	NP_057588.1	Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	60					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			AGCATGAACATAGTGACCTAG	0.527													T|||	1	0.000199681	0.0008	0.0	5008	,	,		22366	0.0		0.0	False		,,,				2504	0.0					ENST00000442592.3																			0				endometrium(1)|large_intestine(2)|urinary_tract(1)	4						c.(178-180)tAt>tGt		mitochondrial ribosomal protein L27		T	CYS/TYR	1,4405		0,1,2202	96.0	88.0	90.0		179	5.8	1.0	17	dbSNP_134	90	0,8600		0,0,4300	no	missense	MRPL27	NM_016504.2	194	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	60/149	48447454	1,13005	2203	4300	6503	SO:0001583	missense	51264				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:48447454T>C	AB049647	CCDS11564.1	17q21.3-q22	2012-09-13			ENSG00000108826	ENSG00000108826		"""Mitochondrial ribosomal proteins / large subunits"""	14483	protein-coding gene	gene with protein product		611837					Standard	NM_016504		Approved		uc002iqq.3	Q9P0M9	OTTHUMG00000162062	ENST00000225969.4:c.179A>G	17.37:g.48447454T>C	ENSP00000225969:p.Tyr60Cys					MRPL27_ENST00000503633.1_Missense_Mutation_p.Y60C|MRPL27_ENST00000507088.1_Missense_Mutation_p.Y5C|MRPL27_ENST00000511860.1_Missense_Mutation_p.Y5C|MRPL27_ENST00000225969.4_Missense_Mutation_p.Y60C	p.Y60C			Q9P0M9	RM27_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.73e-07)		3	215	-	Breast(11;5.62e-19)		60					B2RE14	Missense_Mutation	SNP	ENST00000225969.4	37	c.179A>G	CCDS11564.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528125	0.64860	2.27E-4	0.0	ENSG00000108826	ENST00000507088;ENST00000225969;ENST00000503633;ENST00000442592;ENST00000511860	T;T;T	0.48201	0.85;0.82;0.83	5.79	5.79	0.91817	.	0.053142	0.85682	D	0.000000	T	0.65260	0.2674	M	0.73372	2.23	0.49915	D	0.999835	D;D	0.89917	1.0;0.992	D;P	0.77004	0.989;0.89	T	0.67329	-0.5698	10	0.52906	T	0.07	-0.8239	10.6303	0.45532	0.2641:0.0:0.0:0.7359	.	60;60	B3KN43;Q9P0M9	.;RM27_HUMAN	C	5;60;60;60;5	ENSP00000225969:Y60C;ENSP00000425126:Y60C;ENSP00000388915:Y60C	ENSP00000225969:Y60C	Y	-	2	0	MRPL27	45802453	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.330000	0.59266	2.205000	0.71048	0.528000	0.53228	TAT		0.527	MRPL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367057.1			24	25	0	0	0	1	0	24	25				
LRP2	4036	broad.mit.edu	37	2	170031819	170031819	+	Missense_Mutation	SNP	C	C	T	rs545303364		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:170031819C>T	ENST00000263816.3	-	55	10937	c.10652G>A	c.(10651-10653)cGc>cAc	p.R3551H	LRP2_ENST00000461418.1_5'Flank	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3551	LDL-receptor class A 27. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R3551H(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCGGCAGAAGCGCTGCGGGCA	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		16743	0.0		0.0	False		,,,				2504	0.001					ENST00000263816.3																			2	Substitution - Missense(2)	p.R3551H(2)	biliary_tract(1)|breast(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(10651-10653)cGc>cAc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						82.0	79.0	80.0					2																	170031819		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170031819C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10652G>A	2.37:g.170031819C>T	ENSP00000263816:p.Arg3551His						p.R3551H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	55	10937	-			3551			LDL-receptor class A 27.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.10652G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398154	0.83120	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.91407	-2.84	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.95686	0.8597	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95232	0.8343	10	0.54805	T	0.06	.	19.8706	0.96849	0.0:1.0:0.0:0.0	.	3551	P98164	LRP2_HUMAN	H	3551;246	ENSP00000263816:R3551H	ENSP00000263816:R3551H	R	-	2	0	LRP2	169740065	1.000000	0.71417	0.962000	0.40283	0.143000	0.21401	7.629000	0.83207	2.691000	0.91804	0.563000	0.77884	CGC		0.532	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		28	25	0	0	0	1	0	28	25				
UBE2F	140739	broad.mit.edu	37	2	238925257	238925257	+	Silent	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:238925257C>T	ENST00000272930.4	+	5	458	c.264C>T	c.(262-264)ccC>ccT	p.P88P	UBE2F-SCLY_ENST00000449191.1_Silent_p.P88P|UBE2F_ENST00000409633.1_Silent_p.P88P|UBE2F_ENST00000409953.1_Silent_p.P64P|UBE2F_ENST00000409332.1_Silent_p.P66P|UBE2F_ENST00000414443.1_Silent_p.P56P	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	88					protein neddylation (GO:0045116)		ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		CTGAAGTTCCCGATGCGTACA	0.458																																						ENST00000272930.4																			0				endometrium(1)|large_intestine(1)	2						c.(262-264)ccC>ccT		ubiquitin-conjugating enzyme E2F (putative)							135.0	139.0	138.0					2																	238925257		2203	4300	6503	SO:0001819	synonymous_variant	140739				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding	g.chr2:238925257C>T	BC010549	CCDS2523.1, CCDS63175.1, CCDS63176.1, CCDS63177.1	2q37.3	2008-02-05	2005-12-15		ENSG00000184182	ENSG00000184182		"""Ubiquitin-conjugating enzymes E2"""	12480	protein-coding gene	gene with protein product	"""NEDD8 conjugating enzyme"""					12477932	Standard	NM_080678		Approved	NCE2	uc031rrz.1	Q969M7	OTTHUMG00000133341	ENST00000272930.4:c.264C>T	2.37:g.238925257C>T						UBE2F_ENST00000409332.1_Silent_p.P66P|UBE2F-SCLY_ENST00000449191.1_Silent_p.P88P|UBE2F_ENST00000409633.1_Silent_p.P88P|UBE2F_ENST00000414443.1_Silent_p.P56P|UBE2F_ENST00000409953.1_Silent_p.P64P	p.P88P	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)	5	458	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	88					A8K1Z8|B4DDT9|B4DFI1|B4DMK3|B4DZU2|B8ZZG2|C9J212|H9KVB9	Silent	SNP	ENST00000272930.4	37	c.264C>T	CCDS2523.1																																																																																				0.458	UBE2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257171.2	NM_080678		16	116	0	0	0	1	0	16	116				
MUC17	140453	broad.mit.edu	37	7	100683876	100683876	+	Missense_Mutation	SNP	T	T	G	rs145514577		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr7:100683876T>G	ENST00000306151.4	+	3	9243	c.9179T>G	c.(9178-9180)aTt>aGt	p.I3060S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3060	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGTGGCCATTCCTGAGGCT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		25521	0.0		0.001	False		,,,				2504	0.0					ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9178-9180)aTt>aGt		mucin 17, cell surface associated							275.0	283.0	280.0					7																	100683876		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683876T>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9179T>G	7.37:g.100683876T>G	ENSP00000302716:p.Ile3060Ser						p.I3060S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9243	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3060			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9179T>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.327	-0.958208	0.02267	.	.	ENSG00000169876	ENST00000306151	T	0.02197	4.4	0.814	-0.258	0.12975	.	.	.	.	.	T	0.00998	0.0033	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.48681	-0.9014	9	0.17369	T	0.5	.	3.7091	0.08413	0.0:0.5408:0.2591:0.2001	.	3060	Q685J3	MUC17_HUMAN	S	3060	ENSP00000302716:I3060S	ENSP00000302716:I3060S	I	+	2	0	MUC17	100470596	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.610000	0.00209	-0.661000	0.05345	-2.058000	0.00401	ATT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		4	242	0	0	0	1	0	4	242				
TRBV5-7	28608	broad.mit.edu	37	7	142111483	142111483	+	RNA	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr7:142111483C>T	ENST00000390378.1	-	0	252									T cell receptor beta variable 5-7 (non-functional)																		AACTGGTGACCTGAGAATTGA	0.522																																						ENST00000390378.1																			0																				108.0	105.0	106.0					7																	142111483		1879	4109	5988			0							g.chr7:142111483C>T	L36092		7q34	2012-02-07	2008-09-11		ENSG00000211731	ENSG00000211731		"""T cell receptors / TRB locus"""	12224	other	T cell receptor gene			"""T cell receptor beta variable 5-7"""			8650574	Standard	NG_001333		Approved	TRBV57, TCRBV5S7, TCRBV5S7P			OTTHUMG00000158897		7.37:g.142111483C>T														0	252	-									RNA	SNP	ENST00000390378.1	37																																																																																						0.522	TRBV5-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352509.1	NG_001333		57	61	0	0	0	1	0	57	61				
DENND4A	10260	broad.mit.edu	37	15	65960387	65960387	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr15:65960387G>C	ENST00000431932.2	-	27	4938	c.4730C>G	c.(4729-4731)tCt>tGt	p.S1577C	DENND4A_ENST00000443035.3_Missense_Mutation_p.S1620C	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1577					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGGACATTTAGACATAGCTGT	0.398																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(4858-4860)tCt>tGt		DENN/MADD domain containing 4A							92.0	86.0	88.0					15																	65960387		1827	4081	5908	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65960387G>C	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4730C>G	15.37:g.65960387G>C	ENSP00000396830:p.Ser1577Cys					DENND4A_ENST00000431932.2_Missense_Mutation_p.S1577C	p.S1620C	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			28	5074	-			1577					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.4859C>G	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939021	0.73557	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.06294	3.34;3.32	5.41	5.41	0.78517	.	0.539211	0.17304	N	0.179144	T	0.11067	0.0270	L	0.51422	1.61	0.48901	D	0.999728	P;P	0.51791	0.948;0.833	B;B	0.42422	0.293;0.387	T	0.03034	-1.1080	10	0.72032	D	0.01	.	19.5488	0.95310	0.0:0.0:1.0:0.0	.	1620;1577	E7EPL3;Q7Z401	.;MYCPP_HUMAN	C	1620;1577	ENSP00000391167:S1620C;ENSP00000396830:S1577C	ENSP00000396830:S1577C	S	-	2	0	DENND4A	63747441	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	4.908000	0.63307	2.680000	0.91292	0.650000	0.86243	TCT		0.398	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		30	22	0	0	0	1	0	30	22				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	27	0	0	0	1	0	3	27				
ASNS	440	broad.mit.edu	37	7	97482450	97482450	+	Silent	SNP	T	T	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr7:97482450T>C	ENST00000394309.3	-	12	1869	c.1398A>G	c.(1396-1398)ccA>ccG	p.P466P	ASNS_ENST00000455086.1_Silent_p.P383P|ASNS_ENST00000437628.1_Silent_p.P383P|ASNS_ENST00000175506.4_Silent_p.P466P|ASNS_ENST00000394308.3_Silent_p.P466P|ASNS_ENST00000444334.1_Silent_p.P445P|ASNS_ENST00000422745.1_Silent_p.P445P	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	466	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGGCTTCTTTTGGTCGCCAGA	0.373																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(1396-1398)ccA>ccG		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						45.0	43.0	43.0					7																	97482450		2203	4300	6503	SO:0001819	synonymous_variant	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97482450T>C	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1398A>G	7.37:g.97482450T>C						ASNS_ENST00000422745.1_Silent_p.P445P|ASNS_ENST00000394308.3_Silent_p.P466P|ASNS_ENST00000437628.1_Silent_p.P383P|ASNS_ENST00000444334.1_Silent_p.P445P|ASNS_ENST00000394309.3_Silent_p.P466P|ASNS_ENST00000455086.1_Silent_p.P383P	p.P466P	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN			13	1926	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		466			Asparagine synthetase.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Silent	SNP	ENST00000394309.3	37	c.1398A>G	CCDS5652.1																																																																																				0.373	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		13	58	0	0	0	1	0	13	58				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	173	0	0	0	1	0	5	173				
AP3D1	8943	broad.mit.edu	37	19	2129435	2129435	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:2129435T>C	ENST00000345016.5	-	7	845	c.614A>G	c.(613-615)aAt>aGt	p.N205S	AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000355272.6_Missense_Mutation_p.N205S|AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000590683.1_5'Flank	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	205					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGATGACATTGACGGCAGC	0.577																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(613-615)aAt>aGt		adaptor-related protein complex 3, delta 1 subunit							99.0	105.0	103.0					19																	2129435		1983	4162	6145	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2129435T>C	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.614A>G	19.37:g.2129435T>C	ENSP00000344055:p.Asn205Ser					AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000345016.5_Missense_Mutation_p.N205S|AP3D1_ENST00000356926.4_Intron	p.N205S	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	820	-		Hepatocellular(1079;0.137)	205					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.614A>G	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.586684	0.66105	.	.	ENSG00000065000	ENST00000345016;ENST00000355272;ENST00000343722	T;T	0.12039	2.72;2.72	4.58	4.58	0.56647	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	M	0.62154	1.92	0.80722	D	1	D;D	0.71674	0.998;0.972	D;P	0.80764	0.994;0.896	T	0.03121	-1.1070	10	0.48119	T	0.1	-50.3823	13.4298	0.61049	0.0:0.0:0.0:1.0	.	205;205	O14617-5;O14617	.;AP3D1_HUMAN	S	205	ENSP00000344055:N205S;ENSP00000347416:N205S	ENSP00000341579:N205S	N	-	2	0	AP3D1	2080435	1.000000	0.71417	0.975000	0.42487	0.298000	0.27526	7.775000	0.85489	1.828000	0.53243	0.533000	0.62120	AAT		0.577	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			11	28	0	0	0	1	0	11	28				
NISCH	11188	broad.mit.edu	37	3	52525405	52525405	+	Silent	SNP	G	G	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr3:52525405G>T	ENST00000479054.1	+	21	3852	c.3780G>T	c.(3778-3780)cgG>cgT	p.R1260R	NISCH_ENST00000345716.4_Silent_p.R1260R			Q9Y2I1	NISCH_HUMAN	nischarin	1260					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GCTTGACGCGGGACAGCTACC	0.647																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(3778-3780)cgG>cgT		nischarin							87.0	65.0	73.0					3																	52525405		2203	4300	6503	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52525405G>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3780G>T	3.37:g.52525405G>T						NISCH_ENST00000479054.1_Silent_p.R1260R	p.R1260R	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	20	3914	+			1260					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.3780G>T	CCDS33767.1																																																																																				0.647	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		6	27	1	0	3.59834e-05	1	3.64568e-05	6	27				
SIRT7	51547	broad.mit.edu	37	17	79872257	79872257	+	Silent	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:79872257C>T	ENST00000328666.6	-	7	791	c.729G>A	c.(727-729)ggG>ggA	p.G243G	PCYT2_ENST00000538936.2_5'Flank|PCYT2_ENST00000538721.2_5'Flank|PCYT2_ENST00000571105.1_5'Flank	NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	243	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)	p.G243G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCCCCAACGTCCCCCTCTCCC	0.637																																						ENST00000328666.6																			1	Substitution - coding silent(1)	p.G243G(1)	endometrium(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(727-729)ggG>ggA		sirtuin 7							46.0	42.0	44.0					17																	79872257		2203	4300	6503	SO:0001819	synonymous_variant	51547				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	g.chr17:79872257C>T	AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.729G>A	17.37:g.79872257C>T							p.G243G	NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	791	-	all_neural(118;0.0878)|Ovarian(332;0.12)		243			Deacetylase sirtuin-type.		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Silent	SNP	ENST00000328666.6	37	c.729G>A	CCDS11792.1																																																																																				0.637	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		17	22	0	0	0	1	0	17	22				
HIST3H2BB	128312	broad.mit.edu	37	1	228646048	228646048	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:228646048G>A	ENST00000369160.2	+	1	241	c.218G>A	c.(217-219)cGc>cAc	p.R73H	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	73					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R73L(1)		skin(1)	1		Prostate(94;0.183)				ATCTTCGAGCGCATCGCCAGC	0.622																																						ENST00000369160.2																			1	Substitution - Missense(1)	p.R73L(1)	lung(1)	skin(1)	1						c.(217-219)cGc>cAc		histone cluster 3, H2bb							86.0	81.0	83.0					1																	228646048		2203	4300	6503	SO:0001583	missense	128312				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228646048G>A	AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"""Histones / Replication-dependent"""	20514	protein-coding gene	gene with protein product		615046	"""histone 3, H2bb"""			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.218G>A	1.37:g.228646048G>A	ENSP00000375736:p.Arg73His						p.R73H	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN			1	241	+		Prostate(94;0.183)	73					A4FU05|Q3ZCP6|Q5TA30	Missense_Mutation	SNP	ENST00000369160.2	37	c.218G>A	CCDS1574.1	.	.	.	.	.	.	.	.	.	.	.	18.08	3.544449	0.65198	.	.	ENSG00000196890	ENST00000369160	T	0.69561	-0.41	3.94	3.94	0.45596	Histone-fold (2);Histone core (1);	0.141869	0.32134	N	0.006534	T	0.67524	0.2902	M	0.79258	2.445	0.50632	D	0.999887	B	0.17038	0.02	B	0.19391	0.025	T	0.69202	-0.5207	10	0.49607	T	0.09	.	14.354	0.66724	0.0:0.0:1.0:0.0	.	73	Q8N257	H2B3B_HUMAN	H	73	ENSP00000375736:R73H	ENSP00000375736:R73H	R	+	2	0	HIST3H2BB	226712671	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.967000	0.93402	2.491000	0.84063	0.586000	0.80456	CGC		0.622	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	NM_175055		4	133	0	0	0	1	0	4	133				
CDC123	8872	broad.mit.edu	37	10	12238313	12238313	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:12238313C>G	ENST00000281141.4	+	1	349	c.69C>G	c.(67-69)atC>atG	p.I23M	CDC123_ENST00000455773.3_3'UTR|NUDT5_ENST00000378952.3_5'Flank|CDC123_ENST00000378900.2_Missense_Mutation_p.I23M|NUDT5_ENST00000537776.1_5'Flank|NUDT5_ENST00000378940.3_5'Flank|NUDT5_ENST00000491614.1_5'Flank|NUDT5_ENST00000378927.3_5'Flank|NUDT5_ENST00000378937.3_5'Flank	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	23					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						GCGTTACCATCAAGAGGTGAG	0.567																																						ENST00000281141.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(67-69)atC>atG		cell division cycle 123							94.0	81.0	86.0					10																	12238313		2203	4300	6503	SO:0001583	missense	8872				cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm		g.chr10:12238313C>G	BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.69C>G	10.37:g.12238313C>G	ENSP00000281141:p.Ile23Met					CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Missense_Mutation_p.I23M	p.I23M	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN			1	349	+			23					A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Missense_Mutation	SNP	ENST00000281141.4	37	c.69C>G	CCDS7090.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639183	0.67244	.	.	ENSG00000151465	ENST00000429258;ENST00000281141;ENST00000378900;ENST00000442050	.	.	.	4.58	3.68	0.42216	.	0.043988	0.85682	D	0.000000	T	0.77025	0.4070	M	0.86268	2.805	0.51012	D	0.999903	P	0.49307	0.922	P	0.59546	0.859	T	0.79564	-0.1751	9	0.52906	T	0.07	-20.2787	12.053	0.53518	0.0:0.9141:0.0:0.0859	.	23	O75794	CD123_HUMAN	M	23	.	ENSP00000281141:I23M	I	+	3	3	CDC123	12278319	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.888000	0.39708	1.282000	0.44496	0.561000	0.74099	ATC		0.567	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046801.1	NM_006023		76	683	0	0	0	1	0	76	683				
CYP4A22	284541	broad.mit.edu	37	1	47608994	47608994	+	Silent	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:47608994C>T	ENST00000371891.3	+	5	595	c.564C>T	c.(562-564)caC>caT	p.H188H	CYP4A22_ENST00000371890.3_Silent_p.H188H|CYP4A22_ENST00000294337.3_Silent_p.H188H|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	188						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTTCAGCACGTCTCCTTGA	0.567																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(562-564)caC>caT		cytochrome P450, family 4, subfamily A, polypeptide 22							88.0	78.0	81.0					1																	47608994		2203	4300	6503	SO:0001819	synonymous_variant	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47608994C>T		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.564C>T	1.37:g.47608994C>T						CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Silent_p.H188H|CYP4A22_ENST00000294337.3_Silent_p.H188H	p.H188H	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			5	595	+			188					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP	ENST00000371891.3	37	c.564C>T	CCDS30707.1																																																																																				0.567	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		9	38	0	0	0	1	0	9	38				
FAM76B	143684	broad.mit.edu	37	11	95512069	95512069	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr11:95512069T>C	ENST00000358780.5	-	8	1057	c.745A>G	c.(745-747)Ata>Gta	p.I249V	FAM76B_ENST00000536839.1_Missense_Mutation_p.I248V	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	249						nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATTGACTTATAAGGACAAAA	0.333																																						ENST00000358780.5																			0				breast(1)|kidney(1)|lung(1)	3						c.(745-747)Ata>Gta		family with sequence similarity 76, member B							102.0	94.0	96.0					11																	95512069		1840	4086	5926	SO:0001583	missense	143684							g.chr11:95512069T>C		CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.745A>G	11.37:g.95512069T>C	ENSP00000351631:p.Ile249Val					FAM76B_ENST00000536839.1_Missense_Mutation_p.I248V	p.I249V	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN			8	1057	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	249					Q6PIU3|Q8TC53	Missense_Mutation	SNP	ENST00000358780.5	37	c.745A>G	CCDS41700.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404938	0.62288	.	.	ENSG00000077458	ENST00000358780;ENST00000536839	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	L	0.47716	1.5	0.80722	D	1	B	0.25904	0.137	B	0.25140	0.058	T	0.53272	-0.8462	9	0.32370	T	0.25	-0.3793	16.1611	0.81712	0.0:0.0:0.0:1.0	.	249	Q5HYJ3	FA76B_HUMAN	V	249;248	.	ENSP00000351631:I249V	I	-	1	0	FAM76B	95151717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.932000	0.87634	2.272000	0.75746	0.460000	0.39030	ATA		0.333	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395969.1	NM_144664		23	43	0	0	0	1	0	23	43				
OR2T27	403239	broad.mit.edu	37	1	248813322	248813322	+	Silent	SNP	G	G	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:248813322G>C	ENST00000344889.3	-	1	863	c.864C>G	c.(862-864)ctC>ctG	p.L288L		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCTGTAAATGAGTGGATTGA	0.483																																						ENST00000344889.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(862-864)ctC>ctG		olfactory receptor, family 2, subfamily T, member 27							77.0	77.0	77.0					1																	248813322		2172	4269	6441	SO:0001819	synonymous_variant	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813322G>C		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.864C>G	1.37:g.248813322G>C							p.L288L	NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	863	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	288						Silent	SNP	ENST00000344889.3	37	c.864C>G	CCDS31124.1																																																																																				0.483	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		10	19	0	0	0	1	0	10	19				
DNAJC12	56521	broad.mit.edu	37	10	69571296	69571296	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:69571296C>G	ENST00000225171.2	-	3	435	c.283G>C	c.(283-285)Gac>Cac	p.D95H	DNAJC12_ENST00000339758.7_Missense_Mutation_p.D95H|RNU6-1250P_ENST00000391218.1_RNA|DNAJC12_ENST00000483798.2_Missense_Mutation_p.D125H	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	95										breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TTCACTGAGTCATTCAAAGCT	0.502																																						ENST00000225171.2																			0				breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						c.(283-285)Gac>Cac		DnaJ (Hsp40) homolog, subfamily C, member 12							193.0	153.0	166.0					10																	69571296		2203	4300	6503	SO:0001583	missense	56521				protein folding		heat shock protein binding|unfolded protein binding	g.chr10:69571296C>G	AF176012	CCDS7271.1, CCDS7272.1	10q21.3	2011-09-02			ENSG00000108176	ENSG00000108176		"""Heat shock proteins / DNAJ (HSP40)"""	28908	protein-coding gene	gene with protein product	"""J domain protein 1"""	606060				10760603	Standard	NM_021800		Approved	JDP1	uc001jnb.3	Q9UKB3	OTTHUMG00000018339	ENST00000225171.2:c.283G>C	10.37:g.69571296C>G	ENSP00000225171:p.Asp95His					DNAJC12_ENST00000339758.7_Missense_Mutation_p.D95H|DNAJC12_ENST00000483798.2_Missense_Mutation_p.D125H	p.D95H	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN			3	435	-			95					Q5JVQ1|Q9UKB2	Missense_Mutation	SNP	ENST00000225171.2	37	c.283G>C	CCDS7271.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.175201	0.57692	.	.	ENSG00000108176	ENST00000225171;ENST00000339758	T;T	0.35236	1.55;1.32	6.07	5.0	0.66597	.	0.154695	0.56097	D	0.000021	T	0.51312	0.1667	M	0.69823	2.125	0.58432	D	0.999999	D;D	0.62365	0.985;0.991	P;P	0.56865	0.764;0.808	T	0.50558	-0.8814	10	0.54805	T	0.06	-16.879	11.9554	0.52978	0.0:0.8725:0.0:0.1275	.	95;95	Q9UKB3-2;Q9UKB3	.;DJC12_HUMAN	H	95	ENSP00000225171:D95H;ENSP00000343575:D95H	ENSP00000225171:D95H	D	-	1	0	DNAJC12	69241302	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	1.608000	0.36847	2.885000	0.99019	0.655000	0.94253	GAC		0.502	DNAJC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048291.1	NM_021800		20	57	0	0	0	1	0	20	57				
NCAPD3	23310	broad.mit.edu	37	11	134080162	134080162	+	Splice_Site	SNP	A	A	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr11:134080162A>C	ENST00000534548.2	-	4	632		c.e4+1			NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3						mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTTACTTCTTACCTCAATATC	0.383																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.e4+1		non-SMC condensin II complex, subunit D3							143.0	133.0	137.0					11																	134080162		2201	4297	6498	SO:0001630	splice_region_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134080162A>C	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.567+1T>G	11.37:g.134080162A>C								NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	4	632	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)						A6NFS2|Q4KMQ9	Splice_Site	SNP	ENST00000534548.2	37		CCDS31723.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.639217	0.47153	.	.	ENSG00000151503	ENST00000534548	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6661	0.77230	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCAPD3	133585372	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	6.884000	0.75600	2.285000	0.76669	0.533000	0.62120	.		0.383	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	Intron	31	66	0	0	0	1	0	31	66				
FAM114A1	92689	broad.mit.edu	37	4	38893436	38893436	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr4:38893436G>A	ENST00000358869.2	+	4	597	c.421G>A	c.(421-423)Gca>Aca	p.A141T	FAM114A1_ENST00000515037.1_5'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	141						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCTGTCGTCAGCATCTGCCAC	0.473																																						ENST00000358869.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(421-423)Gca>Aca		family with sequence similarity 114, member A1							122.0	116.0	118.0					4																	38893436		2203	4300	6503	SO:0001583	missense	92689					cytoplasm		g.chr4:38893436G>A		CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.421G>A	4.37:g.38893436G>A	ENSP00000351740:p.Ala141Thr					FAM114A1_ENST00000515037.1_5'UTR	p.A141T	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN			4	597	+			141					A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	c.421G>A	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686808	0.68157	.	.	ENSG00000197712	ENST00000358869	T	0.61510	0.1	5.96	5.96	0.96718	.	0.051893	0.85682	D	0.000000	T	0.78194	0.4245	M	0.83483	2.645	0.58432	D	0.999991	D	0.76494	0.999	D	0.75020	0.985	T	0.78879	-0.2030	9	.	.	.	-18.7984	17.336	0.87281	0.0:0.0:1.0:0.0	.	141	Q8IWE2	NXP20_HUMAN	T	141	ENSP00000351740:A141T	.	A	+	1	0	FAM114A1	38569831	1.000000	0.71417	0.964000	0.40570	0.054000	0.15201	5.437000	0.66544	2.831000	0.97527	0.650000	0.86243	GCA		0.473	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389		21	30	0	0	0	1	0	21	30				
CD163L1	283316	broad.mit.edu	37	12	7522052	7522052	+	Missense_Mutation	SNP	G	G	A	rs372730324		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr12:7522052G>A	ENST00000313599.3	-	15	3997	c.3940C>T	c.(3940-3942)Cgg>Tgg	p.R1314W	CD163L1_ENST00000416109.2_Missense_Mutation_p.R1324W|CD163L1_ENST00000396630.1_Missense_Mutation_p.R1314W			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1314	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCTTTGCACCGCATGTCATCC	0.572													G|||	3	0.000599042	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0031					ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3940-3942)Cgg>Tgg		CD163 molecule-like 1							146.0	133.0	137.0					12																	7522052		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7522052G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3940C>T	12.37:g.7522052G>A	ENSP00000315945:p.Arg1314Trp					CD163L1_ENST00000396630.1_Missense_Mutation_p.R1314W|CD163L1_ENST00000416109.2_Missense_Mutation_p.R1324W	p.R1314W			Q9NR16	C163B_HUMAN			15	3997	-			1314			SRCR 12.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3940C>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026180	0.35701	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.37752	1.18;1.18;1.18	2.67	-2.55	0.06288	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.561810	0.04732	U	0.421283	T	0.49218	0.1544	M	0.76727	2.345	0.09310	N	1	P;P	0.45428	0.858;0.754	P;B	0.49301	0.606;0.109	T	0.56956	-0.7893	10	0.72032	D	0.01	.	11.2601	0.49078	0.0:0.0:0.2165:0.7835	.	1324;1314	E7EVK4;Q9NR16	.;C163B_HUMAN	W	1314;1324;1314	ENSP00000315945:R1314W;ENSP00000393474:R1324W;ENSP00000379871:R1314W	ENSP00000315945:R1314W	R	-	1	2	CD163L1	7413319	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.786000	0.00366	-0.608000	0.05731	0.563000	0.77884	CGG		0.572	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		4	120	0	0	0	1	0	4	120				
IPP	3652	broad.mit.edu	37	1	46179946	46179946	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:46179946T>C	ENST00000396478.3	-	8	1604	c.1502A>G	c.(1501-1503)cAt>cGt	p.H501R	IPP_ENST00000495072.1_5'Flank	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	501						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TTCTACAGTATGAAGAGCATC	0.408																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1501-1503)cAt>cGt		intracisternal A particle-promoted polypeptide							110.0	100.0	103.0					1																	46179946		2203	4300	6503	SO:0001583	missense	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46179946T>C	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1502A>G	1.37:g.46179946T>C	ENSP00000379739:p.His501Arg						p.H501R	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			8	1604	-	Acute lymphoblastic leukemia(166;0.155)		501					A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	c.1502A>G	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	T	5.463	0.270478	0.10349	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.76709	-1.04;-1.04	4.85	2.56	0.30785	Galactose oxidase, beta-propeller (1);	0.799771	0.11912	N	0.517556	T	0.43678	0.1258	N	0.00599	-1.345	0.29785	N	0.833707	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.42682	-0.9437	10	0.40728	T	0.16	.	5.3275	0.15915	0.0:0.1785:0.2043:0.6172	.	501;501	Q9Y573;A2A6V3	IPP_HUMAN;.	R	501	ENSP00000353024:H501R;ENSP00000379739:H501R	ENSP00000353024:H501R	H	-	2	0	IPP	45952534	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.160000	0.42348	0.710000	0.31997	0.454000	0.30748	CAT		0.408	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		32	35	0	0	0	1	0	32	35				
APOL5	80831	broad.mit.edu	37	22	36116679	36116679	+	Silent	SNP	G	G	A	rs369749894		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr22:36116679G>A	ENST00000249044.2	+	2	120	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	40					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGGTCTGGGGGAAGTCCccag	0.512																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.(118-120)ggG>ggA		apolipoprotein L, 5							70.0	61.0	64.0					22																	36116679		2203	4300	6503	SO:0001819	synonymous_variant	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36116679G>A	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.120G>A	22.37:g.36116679G>A							p.G40G	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			2	120	+			40					Q5TFL9|Q9UGW5	Silent	SNP	ENST00000249044.2	37	c.120G>A	CCDS13920.1																																																																																				0.512	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		181	191	0	0	0	1	0	181	191				
FABP4	2167	broad.mit.edu	37	8	82392665	82392665	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr8:82392665A>G	ENST00000256104.4	-	2	337	c.242T>C	c.(241-243)gTc>gCc	p.V81A	RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	81					brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			TCTCACCTTGACTTTCCTGTC	0.378																																					NSCLC(35;550 1252 19644 48360)	ENST00000256104.4																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6						c.(241-243)gTc>gCc		fatty acid binding protein 4, adipocyte							115.0	116.0	115.0					8																	82392665		2203	4300	6503	SO:0001583	missense	2167				triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity	g.chr8:82392665A>G	J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"""Fatty acid binding protein family"""	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.242T>C	8.37:g.82392665A>G	ENSP00000256104:p.Val81Ala					RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	p.V81A	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	Epithelial(68;0.213)		2	337	-			81					Q6IBA1	Missense_Mutation	SNP	ENST00000256104.4	37	c.242T>C	CCDS6230.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.280524	0.40294	.	.	ENSG00000170323	ENST00000256104	T	0.10099	2.91	5.21	5.21	0.72293	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.227157	0.43260	D	0.000590	T	0.16938	0.0407	M	0.78285	2.405	0.28255	N	0.925095	B	0.22909	0.077	B	0.34991	0.193	T	0.12967	-1.0527	10	0.44086	T	0.13	.	6.2093	0.20619	0.7495:0.1639:0.0866:0.0	.	81	P15090	FABP4_HUMAN	A	81	ENSP00000256104:V81A	ENSP00000256104:V81A	V	-	2	0	FABP4	82555220	0.000000	0.05858	1.000000	0.80357	0.944000	0.59088	-0.744000	0.04839	2.202000	0.70862	0.529000	0.55759	GTC		0.378	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379368.1	NM_001442		20	85	0	0	0	1	0	20	85				
ZNF124	7678	broad.mit.edu	37	1	247323000	247323000	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:247323000A>G	ENST00000543802.2	-	2	235	c.146T>C	c.(145-147)cTg>cCg	p.L49P	ZNF124_ENST00000491356.1_Missense_Mutation_p.L49P|ZNF124_ENST00000472531.1_Missense_Mutation_p.L49P|ZNF124_ENST00000340684.6_Missense_Mutation_p.L49P|ZNF124_ENST00000491848.1_5'UTR			Q15973	ZN124_HUMAN	zinc finger protein 124	49	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TATGGAAGCCAGATTCCTGAA	0.413																																						ENST00000472531.1																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14						c.(145-147)cTg>cCg		zinc finger protein 124							115.0	113.0	113.0					1																	247323000		2203	4300	6503	SO:0001583	missense	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247323000A>G	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.146T>C	1.37:g.247323000A>G	ENSP00000440365:p.Leu49Pro					ZNF124_ENST00000340684.6_Missense_Mutation_p.L49P|ZNF124_ENST00000491356.1_Missense_Mutation_p.L49P|ZNF124_ENST00000543802.2_Missense_Mutation_p.L49P|ZNF124_ENST00000491848.1_5'UTR	p.L49P	NM_001243740.1	NP_001230669.1	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		2	273	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		49			KRAB.		B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	37	c.146T>C		.	.	.	.	.	.	.	.	.	.	A	8.626	0.892451	0.17613	.	.	ENSG00000196418	ENST00000340684	T	0.03920	3.76	0.646	0.646	0.17789	Krueppel-associated box (4);	.	.	.	.	T	0.17746	0.0426	.	.	.	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.91635	0.999;0.955	T	0.01702	-1.1292	7	0.87932	D	0	.	.	.	.	.	49;49	Q15973;Q15973-4	ZN124_HUMAN;.	P	49	ENSP00000340749:L49P	ENSP00000340749:L49P	L	-	2	0	ZNF124	245389623	0.003000	0.15002	0.921000	0.36526	0.793000	0.44817	2.493000	0.45320	0.516000	0.28340	0.383000	0.25322	CTG		0.413	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431		17	61	0	0	0	1	0	17	61				
DCHS2	54798	broad.mit.edu	37	4	155180800	155180800	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr4:155180800G>A	ENST00000357232.4	-	20	5320	c.5321C>T	c.(5320-5322)gCa>gTa	p.A1774V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1774	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TATCAAGACTGCTACTTTGCA	0.393																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(5320-5322)gCa>gTa		dachsous cadherin-related 2							185.0	163.0	171.0					4																	155180800		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155180800G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5321C>T	4.37:g.155180800G>A	ENSP00000349768:p.Ala1774Val						p.A1774V	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	20	5320	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1774			Cadherin 15.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.5321C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	7.790	0.711310	0.15239	.	.	ENSG00000197410	ENST00000357232	T	0.36699	1.24	5.52	0.487	0.16842	Cadherin (3);Cadherin-like (1);	0.753321	0.12478	N	0.465386	T	0.19644	0.0472	N	0.12920	0.275	0.09310	N	1	B	0.17667	0.023	B	0.17433	0.018	T	0.19484	-1.0304	10	0.49607	T	0.09	.	6.4899	0.22109	0.2159:0.2555:0.5285:0.0	.	1774	Q6V1P9	PCD23_HUMAN	V	1774	ENSP00000349768:A1774V	ENSP00000349768:A1774V	A	-	2	0	DCHS2	155400250	0.368000	0.25031	0.003000	0.11579	0.367000	0.29736	1.375000	0.34295	0.096000	0.17463	0.655000	0.94253	GCA		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		21	67	0	0	0	1	0	21	67				
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						ENST00000406386.3																			6	Substitution - coding silent(6)	p.C432C(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)tgC>tgT		TRIO and F-actin binding protein																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.C432C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1551	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	120	0	0	0	1	0	6	120				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	184	0	0	0	1	0	5	184				
PKD2L1	9033	broad.mit.edu	37	10	102057259	102057259	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:102057259T>C	ENST00000318222.3	-	5	1218	c.836A>G	c.(835-837)cAg>cGg	p.Q279R	PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Missense_Mutation_p.Q279R	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	279					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGCACTACCCTGTCGGGATCC	0.597																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(835-837)cAg>cGg		polycystic kidney disease 2-like 1							61.0	58.0	59.0					10																	102057259		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102057259T>C	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.836A>G	10.37:g.102057259T>C	ENSP00000325296:p.Gln279Arg					PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Missense_Mutation_p.Q279R	p.Q279R	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	5	1218	-		Colorectal(252;0.117)	279					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.836A>G	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.372412	0.42003	.	.	ENSG00000107593	ENST00000353274;ENST00000318222;ENST00000339977	T;T	0.69561	-0.41;-0.41	5.53	4.4	0.53042	Polycystin cation channel, PKD1/PKD2 (1);	0.280340	0.39615	N	0.001317	T	0.43523	0.1251	N	0.10874	0.06	0.26537	N	0.974153	B;B	0.06786	0.001;0.0	B;B	0.12837	0.003;0.008	T	0.25222	-1.0138	10	0.25751	T	0.34	-4.1846	8.0502	0.30572	0.0:0.1566:0.0:0.8434	.	232;279	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	R	279	ENSP00000266049:Q279R;ENSP00000325296:Q279R	ENSP00000325296:Q279R	Q	-	2	0	PKD2L1	102047249	0.997000	0.39634	1.000000	0.80357	0.961000	0.63080	3.232000	0.51302	0.931000	0.37242	0.459000	0.35465	CAG		0.597	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		11	1149	0	0	0	1	0	11	1149				
TANC2	26115	broad.mit.edu	37	17	61483616	61483616	+	Silent	SNP	C	C	T	rs372775570		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:61483616C>T	ENST00000424789.2	+	19	3349	c.3345C>T	c.(3343-3345)acC>acT	p.T1115T	TANC2_ENST00000389520.4_Silent_p.T1115T|AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1115					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ATCTAGGAACCGTGGACTTTC	0.502											OREG0024637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(3343-3345)acC>acT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2		C		0,3866		0,0,1933	159.0	153.0	155.0		3345	-5.3	1.0	17		155	1,8297		0,1,4148	no	coding-synonymous	TANC2	NM_025185.3		0,1,6081	TT,TC,CC		0.0121,0.0,0.0082		1115/1991	61483616	1,12163	1933	4149	6082	SO:0001819	synonymous_variant	26115						binding	g.chr17:61483616C>T	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3345C>T	17.37:g.61483616C>T			OREG0024637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1054	AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Silent_p.T1115T|RP11-269G24.3_ENST00000583552.1_RNA	p.T1115T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			19	3349	+			1115					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	c.3345C>T	CCDS45754.1																																																																																				0.502	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			64	64	0	0	0	1	0	64	64				
AQP2	359	broad.mit.edu	37	12	50349300	50349300	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr12:50349300C>T	ENST00000199280.3	+	4	810	c.725C>T	c.(724-726)cCg>cTg	p.P242L	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	242					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GGCCTGGAGCCGGACACCGAT	0.692																																						ENST00000199280.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						c.(724-726)cCg>cTg		aquaporin 2 (collecting duct)							18.0	21.0	20.0					12																	50349300		2202	4300	6502	SO:0001583	missense	359				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	g.chr12:50349300C>T		CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"""Ion channels / Aquaporins"""	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.725C>T	12.37:g.50349300C>T	ENSP00000199280:p.Pro242Leu					RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	p.P242L	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN			4	810	+			242					Q9UD68	Missense_Mutation	SNP	ENST00000199280.3	37	c.725C>T	CCDS8792.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528662	0.85706	.	.	ENSG00000167580	ENST00000199280	D	0.87103	-2.21	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000009	D	0.91290	0.7254	M	0.69358	2.11	0.58432	D	0.999998	D	0.89917	1.0	P	0.61328	0.887	D	0.91188	0.4981	9	.	.	.	-38.469	15.5365	0.76007	0.0:1.0:0.0:0.0	.	242	P41181	AQP2_HUMAN	L	242	ENSP00000199280:P242L	.	P	+	2	0	AQP2	48635567	0.997000	0.39634	0.972000	0.41901	0.965000	0.64279	3.652000	0.54439	2.345000	0.79718	0.561000	0.74099	CCG		0.692	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		8	13	0	0	0	1	0	8	13				
TDP1	55775	broad.mit.edu	37	14	90509453	90509453	+	Missense_Mutation	SNP	C	C	T	rs113382706		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr14:90509453C>T	ENST00000335725.4	+	17	2043	c.1793C>T	c.(1792-1794)cCg>cTg	p.P598L	TDP1_ENST00000555880.1_Missense_Mutation_p.R562W|TDP1_ENST00000357382.3_Missense_Mutation_p.P359L|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000393454.2_Missense_Mutation_p.P598L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	598					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GTCAAAGCACCGGATACGCAT	0.423								Repair of DNA-protein crosslinks																														ENST00000335725.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(1792-1794)cCg>cTg	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1							118.0	105.0	110.0					14																	90509453		2203	4300	6503	SO:0001583	missense	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90509453C>T	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1793C>T	14.37:g.90509453C>T	ENSP00000337353:p.Pro598Leu					TDP1_ENST00000555880.1_Missense_Mutation_p.R562W|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000393454.2_Missense_Mutation_p.P598L|TDP1_ENST00000357382.3_Missense_Mutation_p.P359L	p.P598L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	17	2043	+		all_cancers(154;0.185)	598					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.1793C>T	CCDS9888.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.91|17.91	3.503935|3.503935	0.64410|0.64410	.|.	.|.	ENSG00000042088|ENSG00000042088	ENST00000393454;ENST00000335725;ENST00000357382|ENST00000555880	T;T;T|T	0.64803|0.34472	-0.12;-0.12;-0.12|1.36	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.42154|0.42154	0.1190|0.1190	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	D;D|P	0.89917|0.51653	1.0;1.0|0.947	D;D|B	0.97110|0.40101	1.0;1.0|0.319	T|T	0.50206|0.50206	-0.8855|-0.8855	10|8	0.59425|.	D|.	0.04|.	-2.9392|-2.9392	15.0181|15.0181	0.71605|0.71605	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	359;598|562	Q86TV8;Q9NUW8|G3V2F4	.;TYDP1_HUMAN|.	L|W	598;598;359|562	ENSP00000377099:P598L;ENSP00000337353:P598L;ENSP00000349952:P359L|ENSP00000450628:R562W	ENSP00000337353:P598L|.	P|R	+|+	2|1	0|2	TDP1|TDP1	89579206|89579206	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.791000|4.791000	0.62460|0.62460	2.615000|2.615000	0.88500|0.88500	0.650000|0.650000	0.86243|0.86243	CCG|CGG		0.423	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		10	34	0	0	0	1	0	10	34				
ABCA7	10347	broad.mit.edu	37	19	1041546	1041546	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:1041546T>C	ENST00000263094.6	+	3	335	c.104T>C	c.(103-105)cTc>cCc	p.L35P	ABCA7_ENST00000435683.2_5'Flank|ABCA7_ENST00000433129.1_Missense_Mutation_p.L35P|AC011558.5_ENST00000585757.1_RNA	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	35					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCTCTTCCTCTTCTTCATC	0.647																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(103-105)cTc>cCc		ATP-binding cassette, sub-family A (ABC1), member 7							114.0	116.0	116.0					19																	1041546		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1041546T>C	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.104T>C	19.37:g.1041546T>C	ENSP00000263094:p.Leu35Pro					ABCA7_ENST00000433129.1_Missense_Mutation_p.L35P	p.L35P	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	335	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	35					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.104T>C	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288400	0.80803	.	.	ENSG00000064687	ENST00000263094;ENST00000524850;ENST00000531467;ENST00000433129	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	4.78	4.78	0.61160	.	.	.	.	.	D	0.95500	0.8538	M	0.63208	1.945	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.987	D	0.95732	0.8775	9	0.87932	D	0	.	12.2354	0.54512	0.0:0.0:0.0:1.0	.	35;35	B4DVJ5;Q8IZY2	.;ABCA7_HUMAN	P	35;35;33;35	ENSP00000263094:L35P;ENSP00000431473:L35P;ENSP00000433545:L33P;ENSP00000414062:L35P	ENSP00000263094:L35P	L	+	2	0	ABCA7	992546	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	7.741000	0.84997	1.794000	0.52575	0.460000	0.39030	CTC		0.647	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		13	59	0	0	0	1	0	13	59				
ZNF146	7705	broad.mit.edu	37	19	36727929	36727929	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:36727929G>A	ENST00000443387.2	+	4	1579	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Missense_Mutation_p.R196Q	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	196					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TTCTCTCAGCGAACATCACTT	0.418																																						ENST00000456324.1																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(586-588)cGa>cAa		zinc finger protein 146							195.0	154.0	168.0					19																	36727929		2203	4300	6503	SO:0001583	missense	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36727929G>A	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"""Zinc fingers, C2H2-type"""	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.587G>A	19.37:g.36727929G>A	ENSP00000392095:p.Arg196Gln					ZNF146_ENST00000443387.2_Missense_Mutation_p.R196Q|ZNF565_ENST00000355114.5_Intron	p.R196Q	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN			3	2036	+	Esophageal squamous(110;0.162)		196					Q2TB94	Missense_Mutation	SNP	ENST00000443387.2	37	c.587G>A	CCDS12492.1	.	.	.	.	.	.	.	.	.	.	G	7.785	0.710390	0.15239	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	T;T	0.30448	1.53;1.53	4.3	3.26	0.37387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32753	N	0.005698	T	0.16471	0.0396	N	0.13140	0.3	0.24901	N	0.992107	B	0.17038	0.02	B	0.04013	0.001	T	0.13229	-1.0517	10	0.42905	T	0.14	-2.2378	8.2916	0.31960	0.189:0.0:0.811:0.0	.	196	Q15072	OZF_HUMAN	Q	196	ENSP00000392095:R196Q;ENSP00000400391:R196Q	ENSP00000392095:R196Q	R	+	2	0	ZNF146	41419769	0.000000	0.05858	0.949000	0.38748	0.214000	0.24535	0.047000	0.14056	1.402000	0.46780	0.561000	0.74099	CGA		0.418	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145		4	99	0	0	0	1	0	4	99				
MYO3A	53904	broad.mit.edu	37	10	26482183	26482183	+	Silent	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:26482183C>T	ENST00000265944.5	+	32	4654	c.4488C>T	c.(4486-4488)ccC>ccT	p.P1496P	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1496					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAGACGACCCCGGAAACCCA	0.378																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4486-4488)ccC>ccT		myosin IIIA							80.0	78.0	78.0					10																	26482183		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26482183C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4488C>T	10.37:g.26482183C>T						MYO3A_ENST00000543632.1_Intron	p.P1496P	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			32	4654	+			1496					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.4488C>T	CCDS7148.1																																																																																				0.378	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		13	32	0	0	0	1	0	13	32				
DCST2	127579	broad.mit.edu	37	1	155004069	155004069	+	Silent	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:155004069C>T	ENST00000368424.3	-	4	778	c.720G>A	c.(718-720)gcG>gcA	p.A240A	DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000392480.1_5'Flank|DCST2_ENST00000295536.5_Silent_p.A240A|DCST1_ENST00000423025.2_5'Flank|DCST1_ENST00000295542.1_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	240						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCCACAGAGCGCCAGTTTGA	0.592																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(718-720)gcG>gcA		DC-STAMP domain containing 2							111.0	91.0	98.0					1																	155004069		2203	4300	6503	SO:0001819	synonymous_variant	127579					integral to membrane		g.chr1:155004069C>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.720G>A	1.37:g.155004069C>T						DCST2_ENST00000295536.5_Silent_p.A240A	p.A240A	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	778	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		240					Q2M2R2|Q8N810|Q96M03	Silent	SNP	ENST00000368424.3	37	c.720G>A	CCDS1082.2																																																																																				0.592	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		11	51	0	0	0	1	0	11	51				
PRCC	5546	broad.mit.edu	37	1	156761535	156761536	+	Frame_Shift_Ins	INS	-	-	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:156761535_156761536insC	ENST00000271526.4	+	4	1402_1403	c.1130_1131insC	c.(1129-1134)gtccccfs	p.VP377fs	PRCC_ENST00000353233.3_Intron|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	377					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.Q380fs*12(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGCCCTGGTCCCCCCCCAGG	0.53			T	TFE3	papillary renal																																	ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	1	Insertion - Frameshift(1)	p.Q380fs*12(1)	lung(1)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1129-1131)gccfs		papillary renal cell carcinoma (translocation-associated)				24,4242		0,24,2109						4.4	0.9			74	14,8240		0,14,4113	no	frameshift	PRCC	NM_005973.4		0,38,6222	A1A1,A1R,RR		0.1696,0.5626,0.3035				38,12482				SO:0001589	frameshift_variant	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156761535_156761536insC	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1138dupC	1.37:g.156761543_156761543dupC	ENSP00000271526:p.Val377fs					PRCC_ENST00000353233.3_Intron|PRCC_ENST00000491853.1_3'UTR	p.A377fs	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			4	1402_1403	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		377					A8K1F7|O00665|O00724|Q5SZ06	Frame_Shift_Ins	INS	ENST00000271526.4	37	c.1130_1131insC	CCDS1157.1																																																																																				0.530	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		8	364						8	364	---	---	---	---
DNM1	1759	broad.mit.edu	37	9	130982298	130982298	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr9:130982298delG	ENST00000372923.3	+	5	713	c.621delG	c.(619-621)ctgfs	p.L207fs	DNM1_ENST00000486160.1_Frame_Shift_Del_p.L207fs|DNM1_ENST00000393594.3_Frame_Shift_Del_p.L207fs|DNM1_ENST00000341179.7_Frame_Shift_Del_p.L207fs|DNM1_ENST00000475805.1_Frame_Shift_Del_p.L207fs	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	207	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TCACCAAGCTGGACCTGATGG	0.632																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(619-621)ctfs		dynamin 1							72.0	56.0	62.0					9																	130982298		2203	4300	6503	SO:0001589	frameshift_variant	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130982298delG	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.621delG	9.37:g.130982298delG	ENSP00000362014:p.Leu207fs					DNM1_ENST00000486160.1_Frame_Shift_Del_p.L207fs|DNM1_ENST00000475805.1_Frame_Shift_Del_p.L207fs|DNM1_ENST00000393594.3_Frame_Shift_Del_p.L207fs|DNM1_ENST00000372923.3_Frame_Shift_Del_p.L207fs	p.L207fs	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			5	713	+			207					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Frame_Shift_Del	DEL	ENST00000372923.3	37	c.621delG	CCDS6895.1																																																																																				0.632	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		2	4						2	4	---	---	---	---
UPF2	26019	broad.mit.edu	37	10	11990430	11990432	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:11990430_11990432delCTT	ENST00000356352.2	-	15	3583_3585	c.3110_3112delAAG	c.(3109-3114)gaaggt>ggt	p.E1037del	UPF2_ENST00000357604.5_In_Frame_Del_p.E1037del|UPF2_ENST00000397053.2_In_Frame_Del_p.E1037del			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1037	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				tcagccccaccttcttcttcttc	0.374																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(3109-3114)ggt>g		UPF2 regulator of nonsense transcripts homolog (yeast)																																				SO:0001651	inframe_deletion	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11990430_11990432delCTT	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3110_3112delAAG	10.37:g.11990439_11990441delCTT	ENSP00000348708:p.Glu1037del					UPF2_ENST00000397053.2_In_Frame_Del_p.EG1037del|UPF2_ENST00000357604.5_In_Frame_Del_p.EG1037del	p.EG1037del			Q9HAU5	RENT2_HUMAN			15	3583_3585	-		Renal(717;0.228)	1037			Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	In_Frame_Del	DEL	ENST00000356352.2	37	c.3110_3112delAAG	CCDS7086.1																																																																																				0.374	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			7	477						7	477	---	---	---	---
DUSP5	1847	broad.mit.edu	37	10	112262511	112262512	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:112262511_112262512delGA	ENST00000369583.3	+	2	696_697	c.412_413delGA	c.(412-414)gagfs	p.E138fs	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	138	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GGAATATCCTGAGTGTTGCGTG	0.431																																						ENST00000369583.3																			0				kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(412-414)gfs		dual specificity phosphatase 5																																				SO:0001589	frameshift_variant	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112262511_112262512delGA	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.412_413delGA	10.37:g.112262511_112262512delGA	ENSP00000358596:p.Glu138fs					DUSP5_ENST00000468749.1_3'UTR	p.E138fs	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	2	696_697	+		Breast(234;0.0848)	138			Rhodanese.		Q12997|Q5T603	Frame_Shift_Del	DEL	ENST00000369583.3	37	c.412_413delGA	CCDS7566.1																																																																																				0.431	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		55	37						55	37	---	---	---	---
ATM	472	broad.mit.edu	37	11	108158380	108158382	+	In_Frame_Del	DEL	GAC	GAC	-	rs587781785		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr11:108158380_108158382delGAC	ENST00000452508.2	+	28	4236_4238	c.4047_4049delGAC	c.(4045-4050)atgacg>atg	p.T1350del	ATM_ENST00000278616.4_In_Frame_Del_p.T1350del			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1350					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGTTATTGATGACGTTACATGAG	0.345			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(4045-4050)atg>at	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated																																				SO:0001651	inframe_deletion	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108158380_108158382delGAC	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4047_4049delGAC	11.37:g.108158380_108158382delGAC	ENSP00000388058:p.Thr1350del	TSP Lung(14;0.12)				ATM_ENST00000452508.2_In_Frame_Del_p.MT1349del	p.MT1349del	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	27	4432_4434	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1349					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	In_Frame_Del	DEL	ENST00000452508.2	37	c.4047_4049delGAC	CCDS31669.1																																																																																				0.345	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		71	7						71	7	---	---	---	---
CCT2	10576	broad.mit.edu	37	12	69979304	69979304	+	Start_Codon_Del	DEL	G	G	-			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr12:69979304delG	ENST00000299300.6	+	0	191				CCT2_ENST00000543146.2_5'Flank|CCT2_ENST00000544368.2_Start_Codon_Del|MIR3913-2_ENST00000577744.1_RNA	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)						'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TCGGAACCATGGTGAGCCTGA	0.622											OREG0021987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000299300.6																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24								chaperonin containing TCP1, subunit 2 (beta)							135.0	89.0	105.0					12																	69979304		2201	4295	6496	SO:0001582	initiator_codon_variant	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69979304delG	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383		12.37:g.69979304delG			OREG0021987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1118	CCT2_ENST00000544368.2_Start_Codon_Del		NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		0	191	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)							A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Translation_Start_Site	DEL	ENST00000299300.6	37		CCDS8991.1																																																																																				0.622	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		2	4						2	4	---	---	---	---
FAM98C	147965	broad.mit.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-	rs372349446		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:38899502_38899504delAAG	ENST00000252530.5	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)aagdel	p.K349del	FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606																																						ENST00000252530.5																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1030-1032)del		family with sequence similarity 98, member C				414,186,2888		21,2,370,1,182,1168						-2.6	0.1		dbSNP_134	37	186,506,7042		7,0,172,3,500,3185	no	codingComplex	FAM98C	NM_174905.3		28,2,542,4,682,4353	A1A1,A1A2,A1R,A2A2,A2R,RR		8.9475,17.2018,11.5131				600,692,9930				SO:0001651	inframe_deletion	147965							g.chr19:38899502_38899504delAAG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.1030_1032delAAG	19.37:g.38899511_38899513delAAG	ENSP00000252530:p.Lys349del					FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR	p.K349del	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	1049_1051	+	all_cancers(60;3.95e-06)		349					A6NMW3|Q66K45	In_Frame_Del	DEL	ENST00000252530.5	37	c.1030_1032delAAG	CCDS42562.1																																																																																				0.606	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		8	50						8	50	---	---	---	---
ZNF446	55663	broad.mit.edu	37	19	58991631	58991631	+	Frame_Shift_Del	DEL	T	T	-	rs551383550		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:58991631delT	ENST00000594369.1	+	7	1272	c.891delT	c.(889-891)gctfs	p.A298fs	ZNF446_ENST00000596341.1_Intron|ZNF446_ENST00000335841.4_Frame_Shift_Del_p.L269fs	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	298	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TGTCTGGGGCTGCCACTCCTG	0.721																																						ENST00000594369.1																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(889-891)gcfs		zinc finger protein 446							6.0	7.0	6.0					19																	58991631		2092	4146	6238	SO:0001589	frameshift_variant	55663				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58991631delT		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.891delT	19.37:g.58991631delT	ENSP00000472802:p.Ala298fs					ZNF446_ENST00000596341.1_Intron|ZNF446_ENST00000335841.4_Frame_Shift_Del_p.L269fs	p.A298fs	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	7	1272	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	298			Pro-rich.			Frame_Shift_Del	DEL	ENST00000594369.1	37	c.891delT	CCDS12982.1																																																																																				0.721	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908		3	5						3	5	---	---	---	---
