#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
KLHL8	57563	broad.mit.edu	37	4	88085190	88085190	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr4:88085190A>G	ENST00000273963.5	-	9	1920	c.1579T>C	c.(1579-1581)Tat>Cat	p.Y527H	KLHL8_ENST00000512111.1_Missense_Mutation_p.Y527H|KLHL8_ENST00000545252.1_Missense_Mutation_p.Y176H|KLHL8_ENST00000498875.2_Missense_Mutation_p.Y451H|KLHL8_ENST00000425278.2_Missense_Mutation_p.Y344H	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	527					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CGGGGGTCATACCGCTCAACT	0.403																																						ENST00000273963.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1579-1581)Tat>Cat		kelch-like family member 8							93.0	88.0	90.0					4																	88085190		2203	4300	6503	SO:0001583	missense	57563							g.chr4:88085190A>G	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1579T>C	4.37:g.88085190A>G	ENSP00000273963:p.Tyr527His					KLHL8_ENST00000498875.2_Missense_Mutation_p.Y451H|KLHL8_ENST00000545252.1_Missense_Mutation_p.Y176H|KLHL8_ENST00000512111.1_Missense_Mutation_p.Y527H|KLHL8_ENST00000425278.2_Missense_Mutation_p.Y344H	p.Y527H	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	9	1920	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	527					Q53XA3|Q6N018	Missense_Mutation	SNP	ENST00000273963.5	37	c.1579T>C	CCDS3617.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965483	0.74131	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.71	5.71	0.89125	Galactose oxidase, beta-propeller (1);	0.161383	0.56097	D	0.000032	D	0.96367	0.8815	H	0.98883	4.36	0.53688	D	0.999975	D;D;D	0.71674	0.975;0.998;0.968	P;D;P	0.72625	0.89;0.978;0.904	D	0.98149	1.0440	10	0.87932	D	0	.	15.9754	0.80060	1.0:0.0:0.0:0.0	.	344;451;527	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	H	527;451;344;176;527	ENSP00000273963:Y527H;ENSP00000426451:Y451H;ENSP00000408854:Y344H;ENSP00000439514:Y176H;ENSP00000424131:Y527H	ENSP00000273963:Y527H	Y	-	1	0	KLHL8	88304214	1.000000	0.71417	0.209000	0.23619	0.269000	0.26545	8.966000	0.93397	2.168000	0.68352	0.460000	0.39030	TAT		0.403	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			3	183	0	0	0	0.009096	0	3	183				
SLC39A12	221074	broad.mit.edu	37	10	18276462	18276462	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr10:18276462G>A	ENST00000377369.2	+	7	1424	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E	SLC39A12_ENST00000377371.3_Missense_Mutation_p.G384E|SLC39A12_ENST00000539911.1_Missense_Mutation_p.G250E|SLC39A12_ENST00000377374.4_Missense_Mutation_p.G384E	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	384					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCCATGCTGGGGACAGCGCTG	0.562																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1150-1152)gGg>gAg		solute carrier family 39 (zinc transporter), member 12							149.0	114.0	126.0					10																	18276462		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18276462G>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1151G>A	10.37:g.18276462G>A	ENSP00000366586:p.Gly384Glu					SLC39A12_ENST00000377374.4_Missense_Mutation_p.G384E|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G384E|SLC39A12_ENST00000539911.1_Missense_Mutation_p.G250E	p.G384E	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			7	1424	+			384					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1151G>A	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929858	0.92389	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.84	5.84	0.93424	.	0.160014	0.56097	D	0.000030	T	0.78666	0.4319	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83196	-0.0081	10	0.72032	D	0.01	-12.7755	20.1379	0.98040	0.0:0.0:1.0:0.0	.	384;384;384	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	E	384;384;384;250;304	ENSP00000366586:G384E;ENSP00000366591:G384E;ENSP00000366588:G384E;ENSP00000440445:G250E	ENSP00000366586:G384E	G	+	2	0	SLC39A12	18316468	1.000000	0.71417	0.995000	0.50966	0.871000	0.50021	9.127000	0.94417	2.779000	0.95612	0.655000	0.94253	GGG		0.562	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		4	119	0	0	0	0.009096	0	4	119				
NRN1L	123904	broad.mit.edu	37	16	67919721	67919721	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr16:67919721G>A	ENST00000339176.3	+	2	275	c.176G>A	c.(175-177)aGc>aAc	p.S59N	NRN1L_ENST00000576147.1_5'UTR|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	59					nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		TTGGGGGACAGCATGGGCCGC	0.612																																						ENST00000339176.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7						c.(175-177)aGc>aAc		neuritin 1-like							64.0	65.0	65.0					16																	67919721		2198	4300	6498	SO:0001583	missense	123904					anchored to membrane|plasma membrane		g.chr16:67919721G>A	AY358782	CCDS10850.1	16q22.1	2008-02-05			ENSG00000188038	ENSG00000188038			29811	protein-coding gene	gene with protein product						12975309	Standard	NM_198443		Approved	UNQ2446, MRCC2446	uc002euu.3	Q496H8	OTTHUMG00000137541	ENST00000339176.3:c.176G>A	16.37:g.67919721G>A	ENSP00000342411:p.Ser59Asn					NRN1L_ENST00000576147.1_5'UTR|CTC-479C5.10_ENST00000572067.1_RNA	p.S59N	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	2	275	+		Ovarian(137;0.192)	59					Q6UWH7	Missense_Mutation	SNP	ENST00000339176.3	37	c.176G>A	CCDS10850.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525923	0.85600	.	.	ENSG00000188038	ENST00000339176	.	.	.	4.78	4.78	0.61160	.	0.254901	0.37906	N	0.001886	T	0.55016	0.1894	L	0.29908	0.895	0.80722	D	1	B	0.29301	0.241	B	0.36845	0.234	T	0.53294	-0.8459	9	0.31617	T	0.26	.	15.9499	0.79827	0.0:0.0:1.0:0.0	.	59	Q496H8	NRN1L_HUMAN	N	59	.	ENSP00000342411:S59N	S	+	2	0	NRN1L	66477222	1.000000	0.71417	0.998000	0.56505	0.811000	0.45836	5.762000	0.68809	2.369000	0.80426	0.555000	0.69702	AGC		0.612	NRN1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268872.2	NM_198443		4	168	0	0	0	0.009096	0	4	168				
HLA-DQA2	3118	broad.mit.edu	37	6	32713607	32713607	+	Missense_Mutation	SNP	C	C	T	rs144060347		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr6:32713607C>T	ENST00000374940.3	+	3	473	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	124	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	TTTCCTGTGACGCTGGGTCAG	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		24198	0.0		0.0	False		,,,				2504	0.0					ENST00000374940.3																			0				endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13						c.(370-372)aCg>aTg		major histocompatibility complex, class II, DQ alpha 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C	MET/THR	1,3021		0,1,1510	193.0	152.0	167.0		371	-6.1	0.1	6	dbSNP_134	167	0,5418		0,0,2709	no	missense	HLA-DQA2	NM_020056.4	81	0,1,4219	TT,TC,CC		0.0,0.0331,0.0118	benign	124/256	32713607	1,8439	1511	2709	4220	SO:0001583	missense	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32713607C>T		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.371C>T	6.37:g.32713607C>T	ENSP00000364076:p.Thr124Met						p.T124M	NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN			3	473	+			124			Alpha-2.|Ig-like C1-type.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	c.371C>T	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	1.637	-0.517475	0.04171	3.31E-4	0.0	ENSG00000237541	ENST00000374940	T	0.02944	4.1	3.06	-6.13	0.02118	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	1.076460	0.07279	N	0.870376	T	0.00356	0.0011	N	0.03304	-0.355	0.19575	N	0.999965	B	0.12630	0.006	B	0.08055	0.003	T	0.47674	-0.9099	10	0.27785	T	0.31	.	1.4748	0.02424	0.1405:0.315:0.142:0.4025	.	124	P01906	DQA2_HUMAN	M	124	ENSP00000364076:T124M	ENSP00000364076:T124M	T	+	2	0	HLA-DQA2	32821585	0.016000	0.18221	0.086000	0.20670	0.026000	0.11368	-0.799000	0.04560	-0.954000	0.03640	0.174000	0.16983	ACG		0.507	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		121	120	0	0	0	0.139131	0	121	120				
PLIN4	729359	broad.mit.edu	37	19	4511095	4511095	+	Silent	SNP	G	G	A	rs369051267		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:4511095G>A	ENST00000301286.3	-	3	2834	c.2835C>T	c.(2833-2835)ggC>ggT	p.G945G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	945	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CATCCTTAGCGCCACTCAGCA	0.592																																						ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(2833-2835)ggC>ggT		perilipin 4		G		1,4377		0,1,2188	50.0	54.0	53.0		2835	-2.3	0.1	19		53	0,8536		0,0,4268	no	coding-synonymous	PLIN4	NM_001080400.1		0,1,6456	AA,AG,GG		0.0,0.0228,0.0077		945/1358	4511095	1,12913	2189	4268	6457	SO:0001819	synonymous_variant	729359					lipid particle|plasma membrane		g.chr19:4511095G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2835C>T	19.37:g.4511095G>A							p.G945G	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	2834	-			945			27 X 33 AA approximate tandem repeat.		A6NEI2	Silent	SNP	ENST00000301286.3	37	c.2835C>T	CCDS45927.1																																																																																				0.592	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		32	82	0	0	0	0.050027	0	32	82				
ACOXL	55289	broad.mit.edu	37	2	111562956	111562956	+	Missense_Mutation	SNP	C	C	T	rs547761662		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:111562956C>T	ENST00000389811.4	+	9	961	c.737C>T	c.(736-738)gCt>gTt	p.A246V	ACOXL_ENST00000340561.4_Missense_Mutation_p.A246V|ACOXL_ENST00000439055.1_Missense_Mutation_p.A246V			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	246					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GCTTTCCAAGCTATGGGTGCC	0.453													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22236	0.0		0.0	False		,,,				2504	0.0					ENST00000389811.4																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(736-738)gCt>gTt		acyl-CoA oxidase-like							120.0	105.0	110.0					2																	111562956		2203	4300	6503	SO:0001583	missense	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111562956C>T		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.737C>T	2.37:g.111562956C>T	ENSP00000374461:p.Ala246Val					ACOXL_ENST00000439055.1_Missense_Mutation_p.A246V|ACOXL_ENST00000340561.4_Missense_Mutation_p.A246V	p.A246V			Q9NUZ1	ACOXL_HUMAN			9	961	+			246					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37	c.737C>T		.	.	.	.	.	.	.	.	.	.	C	16.78	3.216588	0.58452	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000422487;ENST00000340561;ENST00000417074	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	5.96	2.2	0.27929	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.058444	0.64402	N	0.000003	D	0.82733	0.5101	M	0.88241	2.94	0.34503	D	0.706284	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.77004	0.989;0.974;0.989	D	0.83885	0.0281	10	0.87932	D	0	-23.2563	6.0207	0.19628	0.1332:0.6503:0.0:0.2165	.	246;246;246	E9PB20;Q9NUZ1-2;Q9NUZ1	.;.;ACOXL_HUMAN	V	246;246;97;246;84	ENSP00000374461:A246V;ENSP00000407761:A246V;ENSP00000343717:A246V;ENSP00000387832:A84V	ENSP00000343717:A246V	A	+	2	0	ACOXL	111279427	0.978000	0.34361	0.134000	0.22075	0.747000	0.42532	2.517000	0.45529	0.134000	0.18681	-0.181000	0.13052	GCT		0.453	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		75	116	0	0	0	0.139131	0	75	116				
MAML2	84441	broad.mit.edu	37	11	95712904	95712904	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr11:95712904C>G	ENST00000524717.1	-	5	3963	c.2679G>C	c.(2677-2679)caG>caC	p.Q893H		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	893					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTGGGTTTCTCTGTTGGGTCA	0.408			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"""MECT1, CRTC3"""		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2677-2679)caG>caC		mastermind-like 2 (Drosophila)							226.0	209.0	214.0					11																	95712904		1910	4119	6029	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95712904C>G	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2679G>C	11.37:g.95712904C>G	ENSP00000434552:p.Gln893His						p.Q893H	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			5	3963	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	893					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.2679G>C	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	8.056	0.767144	0.15983	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.51574	0.7;0.7	4.94	-1.2	0.09554	.	0.179096	0.38548	N	0.001656	T	0.22126	0.0533	N	0.19112	0.55	0.35768	D	0.820707	B	0.22683	0.073	B	0.19946	0.027	T	0.27502	-1.0072	10	0.06891	T	0.86	-1.1002	6.4023	0.21646	0.0:0.2675:0.3834:0.3491	.	893	Q8IZL2	MAML2_HUMAN	H	893	ENSP00000434552:Q893H;ENSP00000412394:Q893H	ENSP00000412394:Q893H	Q	-	3	2	MAML2	95352552	0.998000	0.40836	0.993000	0.49108	0.923000	0.55619	0.485000	0.22324	-0.006000	0.14370	0.555000	0.69702	CAG		0.408	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			112	90	0	0	0	0.139131	0	112	90				
CCDC40	55036	broad.mit.edu	37	17	78032380	78032380	+	Missense_Mutation	SNP	G	G	A	rs199666629		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:78032380G>A	ENST00000397545.4	+	8	1274	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	CCDC40_ENST00000269318.5_Missense_Mutation_p.R416H|CCDC40_ENST00000374877.3_Missense_Mutation_p.R416H|CCDC40_ENST00000374876.4_Missense_Mutation_p.R416H	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	416					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GACGACATCCGCGTGATGACA	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21026	0.0		0.0	False		,,,				2504	0.0					ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1246-1248)cGc>cAc		coiled-coil domain containing 40							68.0	71.0	70.0					17																	78032380		2106	4227	6333	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78032380G>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1247G>A	17.37:g.78032380G>A	ENSP00000380679:p.Arg416His					CCDC40_ENST00000374876.4_Missense_Mutation_p.R416H|CCDC40_ENST00000374877.3_Missense_Mutation_p.R416H|CCDC40_ENST00000269318.5_Missense_Mutation_p.R416H	p.R416H	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		8	1274	+	all_neural(118;0.167)		416					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1247G>A	CCDS42395.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.101	0.574115	0.13623	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.46451	0.9;1.96;0.87;0.91	4.5	-3.66	0.04489	.	.	.	.	.	T	0.23926	0.0579	L	0.29908	0.895	0.09310	N	1	D;P;P	0.56521	0.976;0.921;0.952	B;B;P	0.44860	0.364;0.272;0.462	T	0.11941	-1.0567	9	0.32370	T	0.25	-0.0019	0.1826	0.00125	0.3244:0.1823:0.1586:0.3347	.	416;416;199	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	H	416	ENSP00000364011:R416H;ENSP00000269318:R416H;ENSP00000364010:R416H;ENSP00000380679:R416H	ENSP00000269318:R416H	R	+	2	0	CCDC40	75646975	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.721000	0.04963	-0.643000	0.05473	0.313000	0.20887	CGC		0.537	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		120	11	0	0	0	0.139131	0	120	11				
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						ENST00000360151.4																			2	Substitution - Missense(2)	p.L290F(2)	kidney(2)								c.(868-870)Ctc>Ttc		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.L290F	NM_001277325.1	NP_001264254.1					8	867	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.868C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			6	281	0	0	0	0.038147	0	6	281				
ANKRD36BP2	645784	broad.mit.edu	37	2	89104958	89104958	+	RNA	SNP	A	A	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:89104958A>G	ENST00000393525.3	+	0	4898									ankyrin repeat domain 36B pseudogene 2																		AATTCAAATCATTGATTTCTG	0.289																																						ENST00000393525.3																			0																																																			0							g.chr2:89104958A>G			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89104958A>G														0	4898	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.289	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			2	10	0	0	0	0.115264	0	2	10				
PELI3	246330	broad.mit.edu	37	11	66243277	66243277	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr11:66243277C>T	ENST00000320740.7	+	8	1209	c.1049C>T	c.(1048-1050)gCg>gTg	p.A350V	CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000349459.6_Missense_Mutation_p.A326V|PELI3_ENST00000531856.1_3'UTR|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|CTD-3074O7.5_ENST00000525142.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	350					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GGCCGCACAGCGCCCGACAAA	0.736																																						ENST00000349459.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						c.(976-978)gCg>gTg		pellino E3 ubiquitin protein ligase family member 3							9.0	11.0	10.0					11																	66243277		2164	4223	6387	SO:0001583	missense	246330					cytosol	protein binding	g.chr11:66243277C>T	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.1049C>T	11.37:g.66243277C>T	ENSP00000322532:p.Ala350Val					PELI3_ENST00000320740.7_Missense_Mutation_p.A350V|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000531856.1_3'UTR	p.A326V	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN			7	1261	+			350					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	ENST00000320740.7	37	c.977C>T	CCDS31615.1	.	.	.	.	.	.	.	.	.	.	C	3.471	-0.107903	0.06924	.	.	ENSG00000174516	ENST00000349459;ENST00000320740;ENST00000526296	T;T;T	0.44083	0.93;0.93;0.93	5.19	4.2	0.49525	.	0.219523	0.38605	N	0.001633	T	0.11750	0.0286	N	0.01410	-0.885	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.33904	-0.9850	10	0.02654	T	1	-14.1664	6.1943	0.20542	0.0:0.8059:0.0:0.1941	.	326;350	Q8N2H9-2;Q8N2H9	.;PELI3_HUMAN	V	326;350;243	ENSP00000309848:A326V;ENSP00000322532:A350V;ENSP00000436722:A243V	ENSP00000322532:A350V	A	+	2	0	PELI3	65999853	0.923000	0.31300	0.660000	0.29694	0.120000	0.20174	2.517000	0.45529	2.698000	0.92095	0.561000	0.74099	GCG		0.736	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		3	14	0	0	0	0.014758	0	3	14				
SLX4	84464	broad.mit.edu	37	16	3640690	3640690	+	Silent	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr16:3640690G>A	ENST00000294008.3	-	12	3589	c.2949C>T	c.(2947-2949)taC>taT	p.Y983Y		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	983	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGAGCTGTTCGTAATCCCCGG	0.572								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(2947-2949)taC>taT	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							82.0	82.0	82.0					16																	3640690		2197	4300	6497	SO:0001819	synonymous_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3640690G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2949C>T	16.37:g.3640690G>A							p.Y983Y	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	3589	-			983			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.2949C>T	CCDS10506.2																																																																																				0.572	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		121	109	0	0	0	0.139131	0	121	109				
SPTBN5	51332	broad.mit.edu	37	15	42172441	42172441	+	Silent	SNP	A	A	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr15:42172441A>G	ENST00000320955.6	-	14	2955	c.2728T>C	c.(2728-2730)Ttg>Ctg	p.L910L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	910					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCAGCCACAACTGGAGCTCC	0.632																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(2728-2730)Ttg>Ctg		spectrin, beta, non-erythrocytic 5							19.0	27.0	25.0					15																	42172441		1958	4148	6106	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42172441A>G	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.2728T>C	15.37:g.42172441A>G							p.L910L	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	14	2955	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	910						Silent	SNP	ENST00000320955.6	37	c.2728T>C																																																																																					0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		4	10	0	0	0	0.047766	0	4	10				
TP53	7157	broad.mit.edu	37	17	7574035	7574035	+	Splice_Site	SNP	T	T	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:7574035T>G	ENST00000269305.4	-	10	1183		c.e10-2		TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	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						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.?(10)|p.0?(8)|p.I332fs*49(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)	CCCACGGATCTGCAGCAACAG	0.507		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"""		19	Unknown(10)|Whole gene deletion(8)|Insertion - Frameshift(1)	p.?(10)|p.0?(8)|p.I332fs*49(1)	lung(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|central_nervous_system(2)|liver(2)|stomach(1)|breast(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e11-2	Other conserved DNA damage response genes	tumor protein p53							44.0	36.0	38.0					17																	7574035		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574035T>G	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.994-2A>C	17.37:g.7574035T>G		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_Intron|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Intron		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)	11	1259	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904238	0.33628	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1784	0.59641	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7514760	1.000000	0.71417	0.937000	0.37676	0.131000	0.20780	6.590000	0.74085	2.061000	0.61500	0.459000	0.35465	.		0.507	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	14	31	0	0	0	0.132662	0	14	31				
NDUFAF3	25915	broad.mit.edu	37	3	49059582	49059582	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:49059582C>G	ENST00000326925.6	+	1	1139	c.5C>G	c.(4-6)gCc>gGc	p.A2G	DALRD3_ENST00000496568.1_5'UTR|MIR425_ENST00000362162.1_RNA|NDUFAF3_ENST00000451378.2_Intron|MIR191_ENST00000384873.1_RNA|DALRD3_ENST00000313778.5_5'Flank|NDUFAF3_ENST00000395458.2_Intron|DALRD3_ENST00000440857.1_5'Flank|NDUFAF3_ENST00000326912.4_Intron	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	2					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TCAGCCATGGCCACCGCTCTC	0.716											OREG0015566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000326925.6																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						c.(4-6)gCc>gGc		NADH dehydrogenase (ubiquinone) complex I, assembly factor 3							25.0	25.0	25.0					3																	49059582		2201	4298	6499	SO:0001583	missense	25915				mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding	g.chr3:49059582C>G		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.5C>G	3.37:g.49059582C>G	ENSP00000323076:p.Ala2Gly		OREG0015566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	959	NDUFAF3_ENST00000451378.2_Intron|DALRD3_ENST00000496568.1_5'UTR|NDUFAF3_ENST00000395458.2_Intron|NDUFAF3_ENST00000326912.4_Intron	p.A2G	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN			1	1139	+			2						Missense_Mutation	SNP	ENST00000326925.6	37	c.5C>G	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840145	0.51057	.	.	ENSG00000178057	ENST00000326925	D	0.90261	-2.64	3.8	2.02	0.26589	.	0.367904	0.24783	N	0.035638	D	0.86698	0.5995	L	0.53249	1.67	0.80722	D	1	P	0.35155	0.487	B	0.36608	0.229	D	0.83422	0.0033	10	0.62326	D	0.03	-8.8779	8.2277	0.31579	0.0:0.8068:0.0:0.1932	.	2	Q9BU61	NDUF3_HUMAN	G	2	ENSP00000323076:A2G	ENSP00000323076:A2G	A	+	2	0	NDUFAF3	49034586	0.820000	0.29190	0.088000	0.20740	0.029000	0.11900	1.186000	0.32078	0.583000	0.29574	0.655000	0.94253	GCC		0.716	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		13	22	0	0	0	0.093190	0	13	22				
CPXCR1	53336	broad.mit.edu	37	X	88009308	88009308	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chrX:88009308C>G	ENST00000276127.4	+	3	1152	c.893C>G	c.(892-894)tCt>tGt	p.S298C	CPXCR1_ENST00000373111.1_Missense_Mutation_p.S298C	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	298							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCATGCAGCTCTTCTGGGAAT	0.294																																						ENST00000276127.4																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						c.(892-894)tCt>tGt		CPX chromosome region, candidate 1							34.0	34.0	34.0					X																	88009308		2186	4284	6470	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88009308C>G	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.893C>G	X.37:g.88009308C>G	ENSP00000276127:p.Ser298Cys					CPXCR1_ENST00000373111.1_Missense_Mutation_p.S298C	p.S298C	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN			3	1152	+			298					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.893C>G	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	C	6.308	0.424845	0.11987	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.24723	1.84;1.84	3.57	0.912	0.19349	Zinc finger, C2H2 (1);	0.348802	0.21052	N	0.080974	T	0.11707	0.0285	N	0.14661	0.345	0.09310	N	1	P	0.46327	0.876	B	0.40982	0.345	T	0.16808	-1.0390	9	.	.	.	-2.4293	4.8677	0.13616	0.0:0.2798:0.0:0.7202	.	298	Q8N123	CPXCR_HUMAN	C	298	ENSP00000276127:S298C;ENSP00000362203:S298C	.	S	+	2	0	CPXCR1	87895964	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.400000	0.07241	0.123000	0.18342	-0.365000	0.07479	TCT		0.294	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		4	118	0	0	0	0.009096	0	4	118				
SLC7A9	11136	broad.mit.edu	37	19	33350866	33350866	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:33350866G>T	ENST00000023064.4	-	8	945	c.754C>A	c.(754-756)Ctg>Atg	p.L252M	SLC7A9_ENST00000590341.1_Missense_Mutation_p.L252M|RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000587772.1_Missense_Mutation_p.L252M	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	252					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GCCAAAGGCAGGTTTCTGGGA	0.602																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(754-756)Ctg>Atg		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						91.0	74.0	80.0					19																	33350866		2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33350866G>T	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.754C>A	19.37:g.33350866G>T	ENSP00000023064:p.Leu252Met					SLC7A9_ENST00000590341.1_Missense_Mutation_p.L252M|SLC7A9_ENST00000587772.1_Missense_Mutation_p.L252M	p.L252M	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			8	945	-	Esophageal squamous(110;0.137)		252					B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.754C>A	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878812	0.51801	.	.	ENSG00000021488	ENST00000023064	D	0.90900	-2.75	5.64	4.41	0.53225	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95544	0.8552	M	0.87328	2.875	0.58432	D	0.999996	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	D	0.95722	0.8767	10	0.62326	D	0.03	.	15.4692	0.75429	0.0776:0.0:0.9224:0.0	.	252;252	Q53FY4;P82251	.;BAT1_HUMAN	M	252	ENSP00000023064:L252M	ENSP00000023064:L252M	L	-	1	2	SLC7A9	38042706	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	3.079000	0.50104	2.675000	0.91044	0.462000	0.41574	CTG		0.602	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			19	69	1	0	2.4624e-09	0.049695	2.82056e-09	19	69				
NF1	4763	broad.mit.edu	37	17	29556166	29556166	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:29556166T>C	ENST00000358273.4	+	21	2916	c.2533T>C	c.(2533-2535)Tgt>Cgt	p.C845R	NF1_ENST00000356175.3_Missense_Mutation_p.C845R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	845					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGCTTCCTTTGTGCCCTTGG	0.512			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2533-2535)Tgt>Cgt		neurofibromin 1							34.0	32.0	32.0					17																	29556166		2203	4297	6500	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556166T>C		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2533T>C	17.37:g.29556166T>C	ENSP00000351015:p.Cys845Arg	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.C845R	p.C845R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	21	2916	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	845					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2533T>C	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	16.41	3.116358	0.56505	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.12039	2.91;3.04;2.72	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.31199	0.0789	M	0.73962	2.25	0.80722	D	1	P;P;P	0.52577	0.954;0.571;0.549	P;B;B	0.53224	0.721;0.16;0.284	T	0.05468	-1.0883	10	0.87932	D	0	.	15.7546	0.78013	0.0:0.0:0.0:1.0	.	845;845;845	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	R	845;845;511	ENSP00000351015:C845R;ENSP00000348498:C845R;ENSP00000389907:C511R	ENSP00000348498:C845R	C	+	1	0	NF1	26580292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.662000	0.83803	2.127000	0.65507	0.454000	0.30748	TGT		0.512	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		101	12	0	0	0	0.139131	0	101	12				
CPA1	1357	broad.mit.edu	37	7	130024455	130024455	+	Missense_Mutation	SNP	G	G	A	rs369665148		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr7:130024455G>A	ENST00000011292.3	+	7	925	c.775G>A	c.(775-777)Gct>Act	p.A259T	CPA1_ENST00000484324.1_Missense_Mutation_p.A171T	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	259					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GAACTGGGACGCTGGCTTTGG	0.602																																						ENST00000011292.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(775-777)Gct>Act		carboxypeptidase A1 (pancreatic)		G	THR/ALA	0,4406		0,0,2203	96.0	86.0	89.0		775	3.3	0.1	7		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	CPA1	NM_001868.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	259/420	130024455	1,13005	2203	4300	6503	SO:0001583	missense	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130024455G>A		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.775G>A	7.37:g.130024455G>A	ENSP00000011292:p.Ala259Thr					CPA1_ENST00000484324.1_Missense_Mutation_p.A171T	p.A259T	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN			7	925	+	Melanoma(18;0.0435)		259					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	c.775G>A	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.465129	0.26335	0.0	1.16E-4	ENSG00000091704	ENST00000011292;ENST00000476062;ENST00000484324	T;T;T	0.11169	2.8;2.8;2.8	5.12	3.32	0.38043	Peptidase M14, carboxypeptidase A (2);	0.148040	0.64402	N	0.000011	T	0.12050	0.0293	L	0.52011	1.625	0.58432	D	0.999999	B;B	0.34264	0.446;0.259	B;B	0.37239	0.116;0.244	T	0.04440	-1.0951	10	0.54805	T	0.06	.	9.5024	0.39026	0.1649:0.0:0.8351:0.0	.	259;171	P15085;C9JUF9	CBPA1_HUMAN;.	T	259;171;171	ENSP00000011292:A259T;ENSP00000419408:A171T;ENSP00000419497:A171T	ENSP00000011292:A259T	A	+	1	0	CPA1	129811691	1.000000	0.71417	0.124000	0.21820	0.052000	0.14988	5.357000	0.66058	0.666000	0.31087	-0.258000	0.10820	GCT		0.602	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		11	140	0	0	0	0.105934	0	11	140				
ZCRB1	85437	broad.mit.edu	37	12	42711595	42711595	+	Missense_Mutation	SNP	G	G	T	rs371619207		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr12:42711595G>T	ENST00000266529.3	-	4	402	c.219C>A	c.(217-219)aaC>aaA	p.N73K	ZCRB1_ENST00000552673.1_Missense_Mutation_p.N32K|PPHLN1_ENST00000549190.1_Intron	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	73	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TTACCTGTTTGTTGTTTATTG	0.393																																						ENST00000266529.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8						c.(217-219)aaC>aaA		zinc finger CCHC-type and RNA binding motif 1							135.0	133.0	134.0					12																	42711595		2203	4299	6502	SO:0001583	missense	85437				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding	g.chr12:42711595G>T	BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	29620	protein-coding gene	gene with protein product	"""U11/U12 snRNP 31K"""	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.219C>A	12.37:g.42711595G>T	ENSP00000266529:p.Asn73Lys					PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.N32K	p.N73K	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN		GBM - Glioblastoma multiforme(48;0.0689)	4	402	-	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)	73			RRM.		Q6PJX0|Q96TA6	Missense_Mutation	SNP	ENST00000266529.3	37	c.219C>A	CCDS8740.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300750	0.23650	.	.	ENSG00000139168	ENST00000266529;ENST00000552673;ENST00000552235	T;T;T	0.75260	-0.92;-0.92;-0.92	5.93	1.53	0.23141	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.076026	0.85682	D	0.000000	T	0.61426	0.2346	L	0.31804	0.96	0.53005	D	0.999961	B	0.23540	0.087	B	0.30572	0.117	T	0.55630	-0.8111	10	0.52906	T	0.07	-18.4046	8.3363	0.32217	0.5234:0.0:0.4766:0.0	.	73	Q8TBF4	ZCRB1_HUMAN	K	73;32;32	ENSP00000266529:N73K;ENSP00000446732:N32K;ENSP00000448780:N32K	ENSP00000266529:N73K	N	-	3	2	ZCRB1	40997862	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.897000	0.48664	0.402000	0.25451	0.655000	0.94253	AAC		0.393	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403813.1	NM_033114		91	130	1	0	1.31458e-49	0.139131	1.53367e-49	91	130				
KISS1	3814	broad.mit.edu	37	1	204159803	204159803	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:204159803C>G	ENST00000367194.4	-	3	374	c.226G>C	c.(226-228)Gag>Cag	p.E76Q		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	76					cytoskeleton organization (GO:0007010)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of synaptic transmission (GO:0050806)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		CCGGAGCTCTCGGGGGGCGGG	0.756																																						ENST00000367194.4																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(226-228)Gag>Cag		KiSS-1 metastasis-suppressor							4.0	5.0	5.0					1																	204159803		1290	3176	4466	SO:0001583	missense	3814				cytoskeleton organization	extracellular region	protein binding	g.chr1:204159803C>G	U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498		"""Endogenous ligands"""	6341	protein-coding gene	gene with protein product	"""prepro-kisspeptin"", ""kisspeptin"""	603286				9192814, 9806840	Standard	NM_002256		Approved		uc001har.3	Q15726	OTTHUMG00000036060	ENST00000367194.4:c.226G>C	1.37:g.204159803C>G	ENSP00000356162:p.Glu76Gln						p.E76Q	NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)	3	374	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	76					A8K6N0|Q9HBP1	Missense_Mutation	SNP	ENST00000367194.4	37	c.226G>C	CCDS41454.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245055	0.59103	.	.	ENSG00000170498	ENST00000367194	T	0.81078	-1.45	5.18	1.11	0.20524	.	0.420575	0.19793	N	0.105937	T	0.75155	0.3811	M	0.69823	2.125	0.09310	N	1	P	0.43231	0.801	B	0.40165	0.321	T	0.67126	-0.5749	10	0.66056	D	0.02	-4.6572	5.5878	0.17283	0.0:0.5188:0.3078:0.1734	.	76	Q15726	KISS1_HUMAN	Q	76	ENSP00000356162:E76Q	ENSP00000356162:E76Q	E	-	1	0	KISS1	202426426	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	1.852000	0.39348	-0.050000	0.13356	-0.126000	0.14955	GAG		0.756	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087892.1	NM_002256		2	10	0	0	0	0.115264	0	2	10				
PCDH7	5099	broad.mit.edu	37	4	31144181	31144181	+	Missense_Mutation	SNP	C	C	T	rs549332673		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr4:31144181C>T	ENST00000543491.1	+	3	3478	c.3478C>T	c.(3478-3480)Ccg>Tcg	p.P1160S				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTGCTGGATGCCGGTCCGCAC	0.537																																						ENST00000543491.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(3478-3480)Ccg>Tcg		protocadherin 7							92.0	92.0	92.0					4																	31144181		2034	4209	6243	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:31144181C>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3478C>T	4.37:g.31144181C>T	ENSP00000441802:p.Pro1160Ser						p.P1160S			O60245	PCDH7_HUMAN			3	3478	+			0					O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000543491.1	37	c.3478C>T	CCDS54753.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.292534|4.292534	0.80914|0.80914	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000543491;ENST00000333135	.|D	.|0.91996	.|-2.95	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|.	.|.	.|.	.|.	D|D	0.96457|0.96457	0.8844|0.8844	M|M	0.81802|0.81802	2.56|2.56	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.96125|0.96125	0.9088|0.9088	5|9	.|0.87932	.|D	.|0	.|.	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1160;1105	.|F5GWJ1;O60245-3	.|.;.	V|S	841|1160;1105	.|ENSP00000441802:P1160S	.|ENSP00000330302:P1105S	A|P	+|+	2|1	0|0	PCDH7|PCDH7	30753279|30753279	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	7.442000|7.442000	0.80503|0.80503	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCC|CCG		0.537	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032457, NM_002589		5	267	0	0	0	0.014758	0	5	267				
LPHN2	23266	broad.mit.edu	37	1	82456736	82456736	+	Silent	SNP	T	T	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:82456736T>C	ENST00000370728.1	+	25	4932	c.4287T>C	c.(4285-4287)aaT>aaC	p.N1429N	LPHN2_ENST00000359929.3_Silent_p.N1373N|LPHN2_ENST00000370730.1_Silent_p.N1386N|LPHN2_ENST00000370721.1_Silent_p.N1354N|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370717.2_Silent_p.N1444N|LPHN2_ENST00000394879.1_Silent_p.N1431N|LPHN2_ENST00000370727.1_Silent_p.N1401N|LPHN2_ENST00000370723.1_Silent_p.N1431N|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000271029.4_Silent_p.N1401N|LPHN2_ENST00000319517.6_Silent_p.N1373N|LPHN2_ENST00000370725.1_Silent_p.N1444N|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000335786.5_Silent_p.N1386N			O95490	LPHN2_HUMAN	latrophilin 2	1429					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)		gcaggggcaatagtgatggtt	0.428																																						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.(4285-4287)aaT>aaC		latrophilin 2							35.0	35.0	35.0					1																	82456736		2203	4300	6503	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82456736T>C	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.4287T>C	1.37:g.82456736T>C						LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000271029.4_Silent_p.N1401N|LPHN2_ENST00000370727.1_Silent_p.N1401N|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370730.1_Silent_p.N1386N|LPHN2_ENST00000394879.1_Silent_p.N1431N|LPHN2_ENST00000370717.2_Silent_p.N1444N|LPHN2_ENST00000319517.6_Silent_p.N1373N|LPHN2_ENST00000359929.3_Silent_p.N1373N|LPHN2_ENST00000370721.1_Silent_p.N1354N|LPHN2_ENST00000335786.5_Silent_p.N1386N|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370725.1_Silent_p.N1444N|LPHN2_ENST00000370723.1_Silent_p.N1431N	p.N1429N			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)	25	4932	+			1429					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.4287T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.588|1.588	-0.529875|-0.529875	0.04112|0.04112	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000402328	.|.	.|.	.|.	5.52|5.52	-1.6|-1.6	0.08426|0.08426	.|.	.|.	.|.	.|.	.|.	T|.	0.44201|.	0.1282|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50004|.	-0.8878|.	4|.	.|.	.|.	.|.	.|.	11.4472|11.4472	0.50131|0.50131	0.0:0.3716:0.0:0.6284|0.0:0.3716:0.0:0.6284	.|.	.|.	.|.	.|.	T|Q	1321|441	.|.	.|.	I|X	+|+	2|1	0|0	LPHN2|LPHN2	82229324|82229324	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.954000|0.954000	0.61252|0.61252	0.569000|0.569000	0.23638|0.23638	-0.175000|-0.175000	0.10725|0.10725	-0.366000|-0.366000	0.07423|0.07423	ATA|TAG		0.428	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		48	68	0	0	0	0.139131	0	48	68				
LAMC1	3915	broad.mit.edu	37	1	183091039	183091039	+	Silent	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:183091039C>T	ENST00000258341.4	+	12	2429	c.2172C>T	c.(2170-2172)tgC>tgT	p.C724C		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	724	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.C724C(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GTGTGCTTTGCGCCTGCAATG	0.478																																						ENST00000258341.4																			1	Substitution - coding silent(1)	p.C724C(1)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(2170-2172)tgC>tgT		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						133.0	118.0	124.0					1																	183091039		2203	4300	6503	SO:0001819	synonymous_variant	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183091039C>T	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2172C>T	1.37:g.183091039C>T							p.C724C	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			12	2429	+			724			Laminin EGF-like 6.		Q5VYE7	Silent	SNP	ENST00000258341.4	37	c.2172C>T	CCDS1351.1																																																																																				0.478	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		4	103	0	0	0	0.009096	0	4	103				
ITGB6	3694	broad.mit.edu	37	2	160998543	160998543	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:160998543G>A	ENST00000283249.2	-	8	1294	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F	ITGB6_ENST00000409967.2_Missense_Mutation_p.L353F|ITGB6_ENST00000409872.1_Missense_Mutation_p.L353F|ITGB6_ENST00000428609.2_Missense_Mutation_p.L311F|ITGB6_ENST00000485635.1_5'UTR	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	353	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCCTTCTGAAGTAGACCTACT	0.373																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1057-1059)Ctt>Ttt		integrin, beta 6							84.0	75.0	78.0					2																	160998543		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160998543G>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1057C>T	2.37:g.160998543G>A	ENSP00000283249:p.Leu353Phe					ITGB6_ENST00000428609.2_Missense_Mutation_p.L311F|ITGB6_ENST00000409967.2_Missense_Mutation_p.L353F|ITGB6_ENST00000409872.1_Missense_Mutation_p.L353F|ITGB6_ENST00000485635.1_5'UTR	p.L353F			P18564	ITB6_HUMAN			8	1294	-			353			VWFA.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.1057C>T	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913244	0.92178	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11	5.9	5.02	0.67125	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	H	0.95470	3.675	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.974;0.981	D	0.98903	1.0777	10	0.72032	D	0.01	.	14.4846	0.67609	0.0699:0.0:0.9301:0.0	.	311;353	E9PEE8;P18564	.;ITB6_HUMAN	F	353;311;353;353	ENSP00000283249:L353F;ENSP00000408024:L311F;ENSP00000386828:L353F;ENSP00000386367:L353F	ENSP00000283249:L353F	L	-	1	0	ITGB6	160706789	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	3.701000	0.54793	2.808000	0.96608	0.650000	0.86243	CTT		0.373	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		5	112	0	0	0	0.014758	0	5	112				
SLC25A40	55972	broad.mit.edu	37	7	87466058	87466058	+	Silent	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr7:87466058G>A	ENST00000341119.5	-	11	1237	c.891C>T	c.(889-891)tcC>tcT	p.S297S		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	297					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					AAAATAATCCGGAAAATCCAT	0.259																																						ENST00000341119.5																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17						c.(889-891)tcC>tcT		solute carrier family 25, member 40							25.0	28.0	27.0					7																	87466058		2184	4241	6425	SO:0001819	synonymous_variant	55972				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr7:87466058G>A	AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.891C>T	7.37:g.87466058G>A							p.S297S	NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN			11	1237	-	Esophageal squamous(14;0.00202)		297					A8K483|D6W5P6|Q53GB1|Q9UHR1	Silent	SNP	ENST00000341119.5	37	c.891C>T	CCDS5610.1																																																																																				0.259	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843		28	58	0	0	0	0.099896	0	28	58				
ABCC12	94160	broad.mit.edu	37	16	48174762	48174762	+	Silent	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr16:48174762G>A	ENST00000311303.3	-	4	838	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	ABCC12_ENST00000416054.1_Silent_p.L165L|ABCC12_ENST00000448542.1_Silent_p.L165L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	165	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTATGCACAGTCCAATGCCA	0.537																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(493-495)Ctg>Ttg		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							100.0	98.0	99.0					16																	48174762		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48174762G>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.493C>T	16.37:g.48174762G>A						ABCC12_ENST00000448542.1_Silent_p.L165L|ABCC12_ENST00000416054.1_Silent_p.L165L	p.L165L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			4	838	-		all_cancers(37;0.0474)|all_lung(18;0.047)	165			ABC transmembrane type-1 1.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.493C>T	CCDS10730.1																																																																																				0.537	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		76	97	0	0	0	0.139131	0	76	97				
HIST1H4G	8369	broad.mit.edu	37	6	26247163	26247163	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr6:26247163C>T	ENST00000244537.4	-	1	96	c.43G>A	c.(43-45)Ggt>Agt	p.G15S		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	15						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G15S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CACTTGGCACCGCCTTTCCCA	0.517																																						ENST00000244537.4																			1	Substitution - Missense(1)	p.G15S(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(43-45)Ggt>Agt		histone cluster 1, H4g							50.0	46.0	47.0					6																	26247163		2203	4300	6503	SO:0001583	missense	8369				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26247163C>T	Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"""Histones / Replication-dependent"""	4792	protein-coding gene	gene with protein product		602832	"""H4 histone family, member L"", ""histone 1, H4g"""	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.43G>A	6.37:g.26247163C>T	ENSP00000244537:p.Gly15Ser						p.G15S	NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN			1	96	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	15						Missense_Mutation	SNP	ENST00000244537.4	37	c.43G>A	CCDS4599.1	.	.	.	.	.	.	.	.	.	.	.	13.67	2.305481	0.40795	.	.	ENSG00000124578	ENST00000244537	.	.	.	3.19	3.19	0.36642	Histone-fold (2);	.	.	.	.	T	0.72771	0.3502	.	.	.	0.44454	D	0.997384	D	0.89917	1.0	D	0.78314	0.991	T	0.77013	-0.2745	7	0.56958	D	0.05	.	14.349	0.66688	0.0:1.0:0.0:0.0	.	15	Q99525	H4G_HUMAN	S	15	.	ENSP00000244537:G15S	G	-	1	0	HIST1H4G	26355142	1.000000	0.71417	0.743000	0.31040	0.008000	0.06430	6.999000	0.76283	1.754000	0.51921	0.501000	0.49751	GGT		0.517	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040107.1	NM_003547		20	93	0	0	0	0.049695	0	20	93				
APOB	338	broad.mit.edu	37	2	21228172	21228172	+	Silent	SNP	G	G	A	rs542175556	byFrequency	TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:21228172G>A	ENST00000233242.1	-	26	11695	c.11568C>T	c.(11566-11568)atC>atT	p.I3856I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3856					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCAGGCACGATGATGGTGG	0.473													G|||	2	0.000399361	0.0	0.0	5008	,	,		21869	0.0		0.0	False		,,,				2504	0.002					ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(11566-11568)atC>atT		apolipoprotein B	Atorvastatin(DB01076)						151.0	133.0	139.0					2																	21228172		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228172G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11568C>T	2.37:g.21228172G>A							p.I3856I	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	11695	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3856					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.11568C>T	CCDS1703.1																																																																																				0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			110	119	0	0	0	0.139131	0	110	119				
IL1R2	7850	broad.mit.edu	37	2	102626194	102626194	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:102626194G>A	ENST00000332549.3	+	3	467	c.238G>A	c.(238-240)Gga>Aga	p.G80R	IL1R2_ENST00000393414.2_Missense_Mutation_p.G80R|IL1R2_ENST00000441002.1_Missense_Mutation_p.G80R	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	80	Ig-like C2-type 1.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						GACGGTCCCAGGAGAAGAAGA	0.592																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(238-240)Gga>Aga		interleukin 1 receptor, type II	Anakinra(DB00026)						155.0	163.0	160.0					2																	102626194		2203	4300	6503	SO:0001583	missense	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102626194G>A	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.238G>A	2.37:g.102626194G>A	ENSP00000330959:p.Gly80Arg					IL1R2_ENST00000441002.1_Missense_Mutation_p.G80R|IL1R2_ENST00000393414.2_Missense_Mutation_p.G80R	p.G80R	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			3	467	+			80			Ig-like C2-type 1.		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	c.238G>A	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233472	0.39498	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.21	2.36	0.29203	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.854459	0.10668	N	0.647878	T	0.08758	0.0217	L	0.50333	1.59	0.09310	N	1	P	0.43431	0.807	B	0.32805	0.153	T	0.26538	-1.0100	10	0.15952	T	0.53	.	3.0962	0.06311	0.1385:0.1459:0.5658:0.1498	.	80	P27930	IL1R2_HUMAN	R	80	ENSP00000330959:G80R;ENSP00000377066:G80R;ENSP00000408415:G80R;ENSP00000414611:G80R	ENSP00000330959:G80R	G	+	1	0	IL1R2	101992626	0.002000	0.14202	0.002000	0.10522	0.384000	0.30261	1.144000	0.31565	0.195000	0.20347	0.561000	0.74099	GGA		0.592	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		13	546	0	0	0	0.105934	0	13	546				
INTS4	92105	broad.mit.edu	37	11	77639508	77639508	+	Silent	SNP	A	A	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr11:77639508A>T	ENST00000534064.1	-	11	1285	c.1251T>A	c.(1249-1251)gtT>gtA	p.V417V	INTS4_ENST00000525931.1_5'UTR|INTS4_ENST00000529807.1_Silent_p.V417V	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	417					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGAACATGTCAACTAGGAAAT	0.443																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(1249-1251)gtT>gtA		integrator complex subunit 4							37.0	34.0	35.0					11																	77639508		2199	4289	6488	SO:0001819	synonymous_variant	92105				snRNA processing	integrator complex	protein binding	g.chr11:77639508A>T	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1251T>A	11.37:g.77639508A>T						INTS4_ENST00000525931.1_5'UTR|INTS4_ENST00000529807.1_Silent_p.V417V	p.V417V	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		11	1285	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		417					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Silent	SNP	ENST00000534064.1	37	c.1251T>A	CCDS31644.1																																																																																				0.443	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		47	24	0	0	0	0.117977	0	47	24				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	140	0	0	0	0.009096	0	4	140				
ACAN	176	broad.mit.edu	37	15	89398499	89398499	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr15:89398499C>T	ENST00000561243.1	+	11	2683	c.2683C>T	c.(2683-2685)Ccc>Tcc	p.P895S	ACAN_ENST00000439576.2_Missense_Mutation_p.P895S|ACAN_ENST00000352105.7_Missense_Mutation_p.P895S|ACAN_ENST00000559004.1_Missense_Mutation_p.P895S			P16112	PGCA_HUMAN	aggrecan	894	CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AAGTGGACTGCCCTCTGGAGA	0.572																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2683-2685)Ccc>Tcc		aggrecan							52.0	60.0	57.0					15																	89398499		2026	4179	6205	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398499C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2683C>T	15.37:g.89398499C>T	ENSP00000453342:p.Pro895Ser					ACAN_ENST00000352105.7_Missense_Mutation_p.P895S|ACAN_ENST00000561243.1_Missense_Mutation_p.P895S|ACAN_ENST00000559004.1_Missense_Mutation_p.P895S	p.P895S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	3057	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		895					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2683C>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698861	0.68501	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.16597	2.64;2.33	5.39	5.39	0.77823	.	0.000000	0.32343	N	0.006224	T	0.44603	0.1301	M	0.74258	2.255	0.46028	D	0.998825	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.34254	-0.9836	10	0.54805	T	0.06	-20.4356	18.1523	0.89678	0.0:1.0:0.0:0.0	.	895;895	E7ENV9;E7EX88	.;.	S	895	ENSP00000387356:P895S;ENSP00000341615:P895S	ENSP00000268134:P895S	P	+	1	0	ACAN	87199503	0.921000	0.31238	0.973000	0.42090	0.592000	0.36648	2.267000	0.43329	2.523000	0.85059	0.561000	0.74099	CCC		0.572	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		40	53	0	0	0	0.080422	0	40	53				
IGSF1	3547	broad.mit.edu	37	X	130416639	130416639	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chrX:130416639C>G	ENST00000361420.3	-	7	1104	c.1025G>C	c.(1024-1026)cGg>cCg	p.R342P	IGSF1_ENST00000370910.1_Missense_Mutation_p.R333P|IGSF1_ENST00000370904.1_Missense_Mutation_p.R333P|IGSF1_ENST00000370903.3_Missense_Mutation_p.R342P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	342	Ig-like C2-type 4.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCTCGACACCGTAGGCTCAC	0.498																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(997-999)cGg>cCg		immunoglobulin superfamily, member 1							134.0	112.0	120.0					X																	130416639		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130416639C>G	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1025G>C	X.37:g.130416639C>G	ENSP00000355010:p.Arg342Pro					IGSF1_ENST00000370910.1_Missense_Mutation_p.R333P|IGSF1_ENST00000370903.3_Missense_Mutation_p.R342P|IGSF1_ENST00000361420.3_Missense_Mutation_p.R342P	p.R333P			Q8N6C5	IGSF1_HUMAN			13	1908	-			342			Ig-like C2-type 4.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.998G>C	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	1.732	-0.493866	0.04322	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	4.78	-0.153	0.13403	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.769840	0.02967	N	0.143897	T	0.15478	0.0373	M	0.74546	2.27	0.09310	N	1	B;B	0.31769	0.339;0.2	B;B	0.27608	0.047;0.081	T	0.22208	-1.0223	10	0.45353	T	0.12	.	0.7403	0.00972	0.1686:0.3668:0.1618:0.3028	.	333;342	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	P	333;342;333;342	ENSP00000359947:R333P;ENSP00000355010:R342P;ENSP00000359941:R333P;ENSP00000359940:R342P	ENSP00000355010:R342P	R	-	2	0	IGSF1	130244320	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.077000	0.11394	-0.295000	0.08960	0.594000	0.82650	CGG		0.498	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			8	232	0	0	0	0.047766	0	8	232				
RFWD2	64326	broad.mit.edu	37	1	176132075	176132075	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:176132075T>C	ENST00000367669.3	-	5	1206	c.692A>G	c.(691-693)gAt>gGt	p.D231G	RFWD2_ENST00000308769.8_Missense_Mutation_p.D227G	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	231					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATCAAGGTTATCTTGGTCAGT	0.358																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(691-693)gAt>gGt		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							101.0	97.0	99.0					1																	176132075		2203	4300	6503	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176132075T>C	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.692A>G	1.37:g.176132075T>C	ENSP00000356641:p.Asp231Gly					RFWD2_ENST00000308769.8_Missense_Mutation_p.D227G	p.D231G	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN			5	1206	-			231					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.692A>G	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.811904	0.50527	.	.	ENSG00000143207	ENST00000367669;ENST00000367666;ENST00000308769;ENST00000498306;ENST00000436424	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.65	4.52	0.55395	.	0.100313	0.64402	N	0.000003	T	0.10723	0.0262	L	0.43152	1.355	0.53005	D	0.999963	B;B;B	0.10296	0.003;0.001;0.0	B;B;B	0.08055	0.003;0.003;0.0	T	0.05954	-1.0854	10	0.41790	T	0.15	-16.112	11.1623	0.48522	0.0:0.073:0.0:0.927	.	227;231;231	Q8NHY2-2;Q8NHY2;Q504W6	.;RFWD2_HUMAN;.	G	231;86;227;90;231	ENSP00000356641:D231G;ENSP00000356638:D86G;ENSP00000310943:D227G;ENSP00000433810:D90G	ENSP00000310943:D227G	D	-	2	0	RFWD2	174398698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.746000	0.68681	0.970000	0.38263	0.477000	0.44152	GAT		0.358	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		80	97	0	0	0	0.139131	0	80	97				
ATN1	1822	broad.mit.edu	37	12	7046127	7046127	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr12:7046127C>T	ENST00000356654.4	+	5	1934	c.1697C>T	c.(1696-1698)cCt>cTt	p.P566L	ATN1_ENST00000396684.2_Missense_Mutation_p.P566L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	566	Involved in binding BAIAP2.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCCAATGGCCCTCCAGTCTCT	0.637																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1696-1698)cCt>cTt		atrophin 1							141.0	117.0	125.0					12																	7046127		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7046127C>T	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1697C>T	12.37:g.7046127C>T	ENSP00000349076:p.Pro566Leu					ATN1_ENST00000396684.2_Missense_Mutation_p.P566L	p.P566L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1934	+			566			Involved in binding BAIAP2.		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.1697C>T	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	c	11.84	1.758256	0.31137	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.54675	0.56;0.56;0.56	3.46	3.46	0.39613	.	0.582869	0.12975	U	0.423749	T	0.42154	0.1190	N	0.22421	0.69	0.43238	D	0.995149	B	0.30851	0.297	B	0.32342	0.144	T	0.43015	-0.9417	10	0.45353	T	0.12	.	15.5085	0.75760	0.0:1.0:0.0:0.0	.	566	P54259	ATN1_HUMAN	L	566;566;566;151	ENSP00000349076:P566L;ENSP00000379915:P566L;ENSP00000441744:P566L	ENSP00000229279:P151L	P	+	2	0	ATN1	6916388	0.033000	0.19621	0.099000	0.21106	0.006000	0.05464	2.785000	0.47782	1.933000	0.56026	0.586000	0.80456	CCT		0.637	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		17	196	0	0	0	0.038395	0	17	196				
TNFAIP8L3	388121	broad.mit.edu	37	15	51397261	51397261	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr15:51397261G>A	ENST00000327536.5	-	1	212	c.113C>T	c.(112-114)gCc>gTc	p.A38V	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	38			A -> T (in dbSNP:rs17647084).							endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TTGTAACGTGGCATCCCTTGT	0.522																																						ENST00000327536.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11						c.(112-114)gCc>gTc		tumor necrosis factor, alpha-induced protein 8-like 3							270.0	213.0	232.0					15																	51397261		2196	4293	6489	SO:0001583	missense	388121							g.chr15:51397261G>A	AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.113C>T	15.37:g.51397261G>A	ENSP00000328016:p.Ala38Val					RP11-108K3.1_ENST00000559909.1_lincRNA	p.A38V	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN		all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)	1	212	-			38		A -> T (in dbSNP:rs17647084).			Q6ZWD1	Missense_Mutation	SNP	ENST00000327536.5	37	c.113C>T	CCDS32241.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332637	0.41297	.	.	ENSG00000183578	ENST00000327536	T	0.29142	1.58	3.61	0.529	0.17095	.	.	.	.	.	T	0.13372	0.0324	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27739	-1.0065	9	0.28530	T	0.3	-13.5508	5.4005	0.16293	0.4169:0.0:0.5831:0.0	.	38	Q5GJ75	TP8L3_HUMAN	V	38	ENSP00000328016:A38V	ENSP00000328016:A38V	A	-	2	0	TNFAIP8L3	49184553	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.072000	0.11486	0.116000	0.18110	-0.280000	0.10049	GCC		0.522	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1	NM_207381		6	233	0	0	0	0.021553	0	6	233				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			0							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	192	0	0	0	0.038147	0	5	192				
RBM11	54033	broad.mit.edu	37	21	15599378	15599378	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr21:15599378G>A	ENST00000400577.3	+	5	619	c.610G>A	c.(610-612)Gct>Act	p.A204T	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	204					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TCAGATGACAGCTCCACTTCC	0.463																																						ENST00000400577.3																			0				endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(610-612)Gct>Act		RNA binding motif protein 11							382.0	358.0	366.0					21																	15599378		1995	4164	6159	SO:0001583	missense	54033						nucleotide binding|RNA binding	g.chr21:15599378G>A	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.610G>A	21.37:g.15599378G>A	ENSP00000383421:p.Ala204Thr					RBM11_ENST00000468643.1_3'UTR	p.A204T	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	5	619	+			204					Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	c.610G>A	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543172	0.27563	.	.	ENSG00000185272	ENST00000400577	T	0.09911	2.93	3.3	2.27	0.28462	.	.	.	.	.	T	0.03608	0.0103	N	0.14661	0.345	0.22389	N	0.999144	P	0.38922	0.651	B	0.24974	0.057	T	0.24870	-1.0148	9	0.12103	T	0.63	.	3.3906	0.07287	0.1397:0.0:0.6046:0.2557	.	204	P57052	RBM11_HUMAN	T	204	ENSP00000383421:A204T	ENSP00000383421:A204T	A	+	1	0	RBM11	14521249	0.389000	0.25205	0.995000	0.50966	0.809000	0.45718	0.230000	0.17852	1.786000	0.52430	0.557000	0.71058	GCT		0.463	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		99	361	0	0	0	0.139131	0	99	361				
STRIP1	85369	broad.mit.edu	37	1	110581798	110581798	+	Silent	SNP	A	A	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:110581798A>G	ENST00000369795.3	+	4	352	c.330A>G	c.(328-330)acA>acG	p.T110T	STRIP1_ENST00000369796.1_Silent_p.T15T|STRIP1_ENST00000369794.2_Silent_p.T110T	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	110					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											CTGCAGTGACAGACAAGAAGT	0.522																																						ENST00000369795.3																			0											c.(328-330)acA>acG		striatin interacting protein 1							75.0	76.0	76.0					1																	110581798		2203	4300	6503	SO:0001819	synonymous_variant	85369							g.chr1:110581798A>G	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.330A>G	1.37:g.110581798A>G						STRIP1_ENST00000369796.1_Silent_p.T15T|STRIP1_ENST00000369794.2_Silent_p.T110T	p.T110T	NM_033088.2	NP_149079.2					4	352	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Silent	SNP	ENST00000369795.3	37	c.330A>G	CCDS30798.1																																																																																				0.522	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		3	129	0	0	0	0.009096	0	3	129				
ZNF844	284391	broad.mit.edu	37	19	12187394	12187394	+	Missense_Mutation	SNP	T	T	C	rs538666859		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:12187394T>C	ENST00000439326.3	+	4	1634	c.1459T>C	c.(1459-1461)Ttt>Ctt	p.F487L	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F487L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GCCTTCATTTTTTCCACTTCC	0.448													.|||	1	0.000199681	0.0	0.0	5008	,	,		23892	0.0		0.001	False		,,,				2504	0.0					ENST00000439326.3																			1	Substitution - Missense(1)	p.F487L(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1459-1461)Ttt>Ctt		zinc finger protein 844							88.0	76.0	80.0					19																	12187394		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187394T>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1459T>C	19.37:g.12187394T>C	ENSP00000392024:p.Phe487Leu					ZNF844_ENST00000441304.2_3'UTR	p.F487L	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1634	+			487					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1459T>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.727179	0.00091	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.04862	3.54	2.75	-5.5	0.02576	.	.	.	.	.	T	0.01454	0.0047	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	9	0.11485	T	0.65	.	1.7468	0.02963	0.1644:0.3872:0.2107:0.2378	.	487	Q08AG5	ZN844_HUMAN	L	487	ENSP00000392024:F487L	ENSP00000392024:F487L	F	+	1	0	ZNF844	12048394	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-14.436000	0.00000	-6.151000	0.00006	-3.187000	0.00055	TTT		0.448	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			4	150	0	0	0	0.014758	0	4	150				
TPTE	7179	broad.mit.edu	37	21	10969082	10969082	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr21:10969082T>G	ENST00000361285.4	-	7	495	c.166A>C	c.(166-168)Agt>Cgt	p.S56R	TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	56					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CACCTTTCACTGATAGGTGAC	0.443																																						ENST00000361285.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(166-168)Agt>Cgt		transmembrane phosphatase with tensin homology							253.0	233.0	240.0					21																	10969082		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10969082T>G	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.166A>C	21.37:g.10969082T>G	ENSP00000355208:p.Ser56Arg					TPTE_ENST00000298232.7_Intron|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_Intron	p.S56R	NM_199261.2	NP_954870.2	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	7	495	-			56					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.166A>C	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	T	5.179	0.218509	0.09810	.	.	ENSG00000166157	ENST00000361285;ENST00000328758	D	0.95171	-3.63	0.431	0.431	0.16523	.	0.669254	0.12846	U	0.434417	D	0.88926	0.6570	L	0.29908	0.895	0.09310	N	1	D	0.53885	0.963	B	0.43623	0.425	T	0.81239	-0.1023	9	0.46703	T	0.11	-5.951	.	.	.	.	56	P56180	TPTE_HUMAN	R	56;38	ENSP00000355208:S56R	ENSP00000399471:S38R	S	-	1	0	TPTE	9990953	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	0.052000	0.14163	0.406000	0.25560	0.163000	0.16589	AGT		0.443	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			6	358	0	0	0	0.021553	0	6	358				
MYH11	4629	broad.mit.edu	37	16	15865513	15865513	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr16:15865513G>A	ENST00000300036.5	-	9	1055	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S	MYH11_ENST00000396324.3_Missense_Mutation_p.P323S|MYH11_ENST00000452625.2_Missense_Mutation_p.P323S|MYH11_ENST00000576790.2_Missense_Mutation_p.P316S	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	316	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTGGGATGGGCACAAAGCCA	0.517			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(946-948)Ccc>Tcc		myosin, heavy chain 11, smooth muscle							118.0	97.0	104.0					16																	15865513		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15865513G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.946C>T	16.37:g.15865513G>A	ENSP00000300036:p.Pro316Ser					MYH11_ENST00000576790.1_Missense_Mutation_p.P316S|MYH11_ENST00000452625.2_Missense_Mutation_p.P323S|MYH11_ENST00000300036.5_Missense_Mutation_p.P316S|MYH11_ENST00000396324.3_Missense_Mutation_p.P323S	p.P316S	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			9	1052	-			316			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.946C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854428	0.51376	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.43	5.43	0.79202	Myosin head, motor domain (2);	0.148440	0.47852	D	0.000204	T	0.75642	0.3877	N	0.04335	-0.225	0.52501	D	0.999951	B;B;B;B;B;B	0.10296	0.0;0.001;0.001;0.001;0.001;0.003	B;B;B;B;B;B	0.17098	0.007;0.017;0.017;0.017;0.017;0.017	T	0.69774	-0.5054	10	0.30854	T	0.27	.	17.7989	0.88580	0.0:0.0:1.0:0.0	.	323;316;316;323;316;323	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	S	316;316;323;323;323	ENSP00000300036:P316S;ENSP00000345136:P316S;ENSP00000379616:P323S;ENSP00000407821:P323S	ENSP00000300036:P316S	P	-	1	0	MYH11	15773014	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.491000	0.53252	2.538000	0.85594	0.561000	0.74099	CCC		0.517	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		4	140	0	0	0	0.009096	0	4	140				
NBPF14	25832	broad.mit.edu	37	1	148012531	148012531	+	Silent	SNP	C	C	T	rs370426022		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:148012531C>T	ENST00000369219.1	-	12	1444	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.K476K(2)|p.K476N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGCCAACATGCTTTTCCTCCA	0.443																																						ENST00000369219.1																			3	Substitution - coding silent(2)|Substitution - Missense(1)	p.K476K(2)|p.K476N(1)	prostate(2)|endometrium(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1426-1428)aaG>aaA		neuroblastoma breakpoint family, member 14							4.0	3.0	3.0					1																	148012531		897	1999	2896	SO:0001819	synonymous_variant	25832					cytoplasm		g.chr1:148012531C>T	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1428G>A	1.37:g.148012531C>T							p.K476K			Q5TI25	NBPFE_HUMAN			12	1444	-	all_hematologic(923;0.032)		476			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37	c.1428G>A		.	.	.	.	.	.	.	.	.	.	-	0.191	-1.053181	0.01965	.	.	ENSG00000122497	ENST00000310701;ENST00000392972;ENST00000426874	.	.	.	.	.	.	.	.	.	.	.	T	0.05410	0.0143	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29027	-1.0025	2	.	.	.	.	.	.	.	.	.	.	.	N	482;487;487	.	.	S	-	2	0	NBPF14	146479155	0.938000	0.31826	0.000000	0.03702	0.000000	0.00434	-1.468000	0.02350	-1.826000	0.01205	-1.864000	0.00558	AGC		0.443	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		3	16	0	0	0	0.115264	0	3	16				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			0							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C								NR_027293.1						0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	94	0	0	0	0.029380	0	4	94				
TP53	7157	broad.mit.edu	37	17	7577572	7577572	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:7577572T>C	ENST00000269305.4	-	7	898	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.M237V|TP53_ENST00000445888.2_Missense_Mutation_p.M237V|TP53_ENST00000413465.2_Missense_Mutation_p.M237V|TP53_ENST00000455263.2_Missense_Mutation_p.M237V|TP53_ENST00000420246.2_Missense_Mutation_p.M237V	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.M237V(6)|p.?(5)|p.M237L(5)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.H233fs*6(1)|p.M144L(1)|p.M237_N239delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(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)	CTGTTACACATGTAGTTGTAG	0.572		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"""		36	Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Deletion - In frame(4)|Insertion - In frame(1)|Complex - compound substitution(1)	p.0?(8)|p.M237V(6)|p.?(5)|p.M237L(5)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.H233fs*6(1)|p.M144L(1)|p.M237_N239delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(1)	haematopoietic_and_lymphoid_tissue(6)|breast(6)|biliary_tract(5)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|urinary_tract(2)|ovary(2)|cervix(1)|stomach(1)|large_intestine(1)|lung(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(709-711)Atg>Gtg	Other conserved DNA damage response genes	tumor protein p53							128.0	101.0	110.0					17																	7577572		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.chr17:7577572T>C	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.709A>G	17.37:g.7577572T>C	ENSP00000269305:p.Met237Val	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.M237V|TP53_ENST00000269305.4_Missense_Mutation_p.M237V|TP53_ENST00000455263.2_Missense_Mutation_p.M237V|TP53_ENST00000445888.2_Missense_Mutation_p.M237V|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.M237V	p.M237V	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)	7	841	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	237		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.709A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111049	0.77210	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	M	0.64997	1.995	0.58432	D	0.999992	D;D;D;D;D;D	0.89917	0.999;0.989;1.0;0.999;0.997;0.999	D;P;D;D;D;D	0.91635	0.997;0.749;0.999;0.999;0.997;0.997	D	0.97551	1.0092	10	0.87932	D	0	-32.6033	11.6823	0.51466	0.0:0.0:0.0:1.0	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237V;ENSP00000352610:M237V;ENSP00000269305:M237V;ENSP00000398846:M237V;ENSP00000391127:M237V;ENSP00000391478:M237V;ENSP00000425104:M105V;ENSP00000423862:M144V	ENSP00000269305:M237V	M	-	1	0	TP53	7518297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	ATG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		41	67	0	0	0	0.117977	0	41	67				
UBXN7	26043	broad.mit.edu	37	3	196094958	196094958	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:196094958C>T	ENST00000296328.4	-	8	849	c.775G>A	c.(775-777)Ggt>Agt	p.G259S	UBXN7_ENST00000535858.1_Missense_Mutation_p.G111S|UBXN7_ENST00000428095.1_Missense_Mutation_p.G97S	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	259						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CCATGTTCACCCAGAAATCCC	0.398																																						ENST00000296328.4																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(775-777)Ggt>Agt		UBX domain protein 7							116.0	107.0	110.0					3																	196094958		1858	4096	5954	SO:0001583	missense	26043						protein binding	g.chr3:196094958C>T	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.775G>A	3.37:g.196094958C>T	ENSP00000296328:p.Gly259Ser					UBXN7_ENST00000535858.1_Missense_Mutation_p.G111S|UBXN7_ENST00000428095.1_Missense_Mutation_p.G97S	p.G259S	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN			8	849	-			259					D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	ENST00000296328.4	37	c.775G>A	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571141	0.28003	.	.	ENSG00000163960	ENST00000296328;ENST00000428095;ENST00000535858	T;T;T	0.39229	1.09;1.09;1.09	5.29	5.29	0.74685	UAS (1);	0.160177	0.53938	D	0.000042	T	0.20740	0.0499	N	0.04508	-0.205	0.38352	D	0.944376	B	0.02656	0.0	B	0.04013	0.001	T	0.16217	-1.0410	10	0.15499	T	0.54	-14.5524	12.849	0.57846	0.0:0.9157:0.0:0.0843	.	259	O94888	UBXN7_HUMAN	S	259;97;111	ENSP00000296328:G259S;ENSP00000397256:G97S;ENSP00000440716:G111S	ENSP00000296328:G259S	G	-	1	0	UBXN7	197579355	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.742000	0.38248	2.734000	0.93682	0.655000	0.94253	GGT		0.398	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		19	232	0	0	0	0.043863	0	19	232				
COL11A1	1301	broad.mit.edu	37	1	103491403	103491403	+	Intron	SNP	T	T	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:103491403T>C	ENST00000370096.3	-	7	1210				COL11A1_ENST00000358392.2_Missense_Mutation_p.K296E|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTTCTTCTTCTTGGATGAA	0.363																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(886-888)Aag>Gag		collagen, type XI, alpha 1							150.0	153.0	152.0					1																	103491403		2202	4299	6501	SO:0001627	intron_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103491403T>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.898-234A>G	1.37:g.103491403T>C						COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Intron	p.K296E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	6	1203	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	297			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.886A>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	6.579	0.475135	0.12521	.	.	ENSG00000060718	ENST00000358392;ENST00000427239	T;T	0.71461	-0.55;-0.57	5.5	5.5	0.81552	.	0.277461	0.30392	N	0.009731	T	0.67646	0.2915	L	0.50333	1.59	0.80722	D	1	D	0.56035	0.974	D	0.70487	0.969	T	0.69191	-0.5210	10	0.05525	T	0.97	.	15.6575	0.77155	0.0:0.0:0.0:1.0	.	296	P12107-2	.	E	296	ENSP00000351163:K296E;ENSP00000408640:K296E	ENSP00000351163:K296E	K	-	1	0	COL11A1	103263991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.758000	0.68776	2.106000	0.64143	0.519000	0.50382	AAG		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	400	0	0	0	0.021553	0	5	400				
NOTCH3	4854	broad.mit.edu	37	19	15281250	15281250	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:15281250C>T	ENST00000263388.2	-	27	5081	c.5006G>A	c.(5005-5007)cGc>cAc	p.R1669H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1669					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCTGTGCTCGCGCTTGCGCCG	0.677																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5005-5007)cGc>cAc		notch 3							39.0	44.0	43.0					19																	15281250		2203	4299	6502	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15281250C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5006G>A	19.37:g.15281250C>T	ENSP00000263388:p.Arg1669His						p.R1669H	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		27	5081	-			1669					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.5006G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264649	0.95399	.	.	ENSG00000074181	ENST00000263388	D	0.85258	-1.96	3.69	3.69	0.42338	.	.	.	.	.	D	0.82930	0.5144	M	0.78223	2.4	0.58432	D	0.999998	P	0.41008	0.735	B	0.32149	0.141	D	0.86187	0.1610	9	0.59425	D	0.04	.	14.3463	0.66665	0.0:1.0:0.0:0.0	.	1669	Q9UM47	NOTC3_HUMAN	H	1669	ENSP00000263388:R1669H	ENSP00000263388:R1669H	R	-	2	0	NOTCH3	15142250	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	7.483000	0.81158	1.906000	0.55180	0.491000	0.48974	CGC		0.677	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		44	57	0	0	0	0.117977	0	44	57				
PHF20L1	51105	broad.mit.edu	37	8	133837542	133837542	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr8:133837542A>C	ENST00000395386.2	+	14	1969	c.1670A>C	c.(1669-1671)gAg>gCg	p.E557A	PHF20L1_ENST00000220847.7_5'UTR|CTC-137K3.1_ENST00000602328.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.E532A	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	557	Lys-rich.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			gaaagaagagagaagagagac	0.338																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(1669-1671)gAg>gCg		PHD finger protein 20-like 1							20.0	20.0	20.0					8																	133837542		2017	4219	6236	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133837542A>C	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1670A>C	8.37:g.133837542A>C	ENSP00000378784:p.Glu557Ala					PHF20L1_ENST00000395390.2_Missense_Mutation_p.E532A|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000315808.10_3'UTR|PHF20L1_ENST00000395383.1_3'UTR	p.E557A	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		14	1969	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		557			Lys-rich.		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.1670A>C	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	A	15.09	2.730038	0.48939	.	.	ENSG00000129292	ENST00000395386;ENST00000395390	T;T	0.38401	1.16;1.14	5.66	5.66	0.87406	.	0.283946	0.21519	U	0.073254	T	0.44685	0.1305	L	0.31752	0.955	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.73708	0.981;0.956	T	0.19289	-1.0310	10	0.21014	T	0.42	-11.3001	12.2779	0.54747	1.0:0.0:0.0:0.0	.	532;557	F8W9L8;A8MW92	.;P20L1_HUMAN	A	557;532	ENSP00000378784:E557A;ENSP00000378788:E532A	ENSP00000378784:E557A	E	+	2	0	PHF20L1	133906724	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.736000	0.62059	2.156000	0.67533	0.533000	0.62120	GAG		0.338	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		3	37	0	0	0	0.115264	0	3	37				
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	lincRNA	DEL	T	T	-			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:700532delT	ENST00000428504.1	-	0	1021				RP11-206L10.5_ENST00000417659.1_lincRNA	NR_033908.1																						aaaaaaaaaaTTCCTTTGGGA	0.453																																						ENST00000428504.1																			0																																																			0							g.chr1:700532delT																													1.37:g.700532delT								NR_033908.1						0	1021	-									RNA	DEL	ENST00000428504.1	37																																																																																						0.453	RP11-206L10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006889.1			5	7						5	7	---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128938471	128938471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:128938471delT	ENST00000259253.6	+	36	3955	c.3908delT	c.(3907-3909)atafs	p.I1303fs	UGGT1_ENST00000375990.3_Frame_Shift_Del_p.I1279fs	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1303	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TAGGAGTTTATACCTTACATG	0.373																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(3835-3837)aafs		UDP-glucose glycoprotein glucosyltransferase 1							70.0	66.0	67.0					2																	128938471		2203	4300	6503	SO:0001589	frameshift_variant	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128938471delT	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3908delT	2.37:g.128938471delT	ENSP00000259253:p.Ile1303fs					UGGT1_ENST00000259253.6_Frame_Shift_Del_p.I1303fs	p.I1279fs			Q9NYU2	UGGG1_HUMAN			36	4239	+			1303			Glucosyltransferase (By similarity).		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Frame_Shift_Del	DEL	ENST00000259253.6	37	c.3836delT	CCDS2154.1																																																																																				0.373	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		54	75						54	75	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47103668	47103705	+	Frame_Shift_Del	DEL	TTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	TTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	-	rs149758106|rs183768442		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:47103668_47103705delTTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	ENST00000409792.3	-	14	6283_6320	c.6241_6278delCTCTCACCACCCTCTTCTGCCTATGAGCGGGGAACAAA	c.(6241-6279)ctctcaccaccctcttctgcctatgagcggggaacaaaafs	p.LSPPSSAYERGTK2081fs	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2081					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCTGGCCTTTTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAGGGAGCTTCTT	0.429			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6241-6279)afs		SET domain containing 2																																				SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47103668_47103705delTTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6241_6278delCTCTCACCACCCTCTTCTGCCTATGAGCGGGGAACAAA	3.37:g.47103668_47103705delTTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	ENSP00000386759:p.Leu2081fs					SETD2_ENST00000492397.1_5'UTR	p.LSPPSSAYERGTK2081fs	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	14	6283_6320	-		Acute lymphoblastic leukemia(5;0.0169)	2081					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	c.6241_6278delCTCTCACCACCCTCTTCTGCCTATGAGCGGGGAACAAA	CCDS2749.2																																																																																				0.429	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		38	490						38	490	---	---	---	---
TP63	8626	broad.mit.edu	37	3	189612149	189612149	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:189612149delG	ENST00000264731.3	+	14	1990	c.1901delG	c.(1900-1902)cggfs	p.R634fs	TP63_ENST00000449992.1_Frame_Shift_Del_p.R455fs|TP63_ENST00000456148.1_Frame_Shift_Del_p.R536fs|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000440651.2_Frame_Shift_Del_p.R630fs|TP63_ENST00000382063.4_Frame_Shift_Del_p.R549fs|TP63_ENST00000354600.5_Frame_Shift_Del_p.R540fs	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	634	Transactivation inhibition.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGTGAGACCCGGGGTGAGCGT	0.567										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(1900-1902)cgfs		tumor protein p63							121.0	113.0	116.0					3																	189612149		2203	4300	6503	SO:0001589	frameshift_variant	8626				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189612149delG	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1901delG	3.37:g.189612149delG	ENSP00000264731:p.Arg634fs	HNSCC(45;0.13)				TP63_ENST00000320472.5_3'UTR|TP63_ENST00000456148.1_Frame_Shift_Del_p.R536fs|TP63_ENST00000382063.4_Frame_Shift_Del_p.R549fs|TP63_ENST00000440651.2_Frame_Shift_Del_p.R630fs|TP63_ENST00000449992.1_Frame_Shift_Del_p.R455fs|TP63_ENST00000354600.5_Frame_Shift_Del_p.R540fs	p.R634fs	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	14	1990	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		634			Transactivation inhibition.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Frame_Shift_Del	DEL	ENST00000264731.3	37	c.1901delG	CCDS3293.1																																																																																				0.567	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		107	156						107	156	---	---	---	---
RP11-556I14.1	0	broad.mit.edu	37	4	105918246	105918247	+	lincRNA	INS	-	-	T	rs145057012|rs10622810|rs60637656		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr4:105918246_105918247insT	ENST00000506386.1	+	0	71																											tttttttttccttttttttttt	0.317																																						ENST00000506386.1																			0																																																			0							g.chr4:105918246_105918247insT																													4.37:g.105918257_105918257dupT														0	71	+									RNA	INS	ENST00000506386.1	37																																																																																						0.317	RP11-556I14.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000363584.1			4	2						4	2	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7574025	7574025	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:7574025delC	ENST00000269305.4	-	10	1191	c.1002delG	c.(1000-1002)gggfs	p.G334fs	TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.G334fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR	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	334	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		G -> V (in sporadic cancers; somatic mutation).|G -> W (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.I332fs*5(1)|p.?(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)	AGCGCTCACGCCCACGGATCT	0.522		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)	ENST00000269305.4		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"""		10	Whole gene deletion(8)|Unknown(1)|Deletion - Frameshift(1)	p.0?(8)|p.I332fs*5(1)|p.?(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|large_intestine(1)|stomach(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(1000-1002)ggfs	Other conserved DNA damage response genes	tumor protein p53							51.0	40.0	44.0					17																	7574025		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574025delC	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.1002delG	17.37:g.7574025delC	ENSP00000269305:p.Gly334fs	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_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.G334fs|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron	p.G334fs	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1191	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	334		G -> V (in sporadic cancers; somatic mutation).|G -> W (in a sporadic cancer; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.1002delG	CCDS11118.1																																																																																				0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	38						19	38	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21196122	21196122	+	RNA	DEL	A	A	-			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr20:21196122delA	ENST00000591761.1	-	0	119				PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA|RP4-777D9.2_ENST00000443753.1_RNA																							TACATTAACCAAAAAAAAAAA	0.244																																						ENST00000591761.1																			0																																																			0							g.chr20:21196122delA																													20.37:g.21196122delA						RP4-777D9.2_ENST00000433213.2_RNA|RP4-777D9.2_ENST00000443753.1_RNA|PLK1S1_ENST00000457464.1_RNA								0	119	-									RNA	DEL	ENST00000591761.1	37																																																																																						0.244	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			5	4						5	4	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15347257	15347258	+	RNA	INS	-	-	A	rs80199214		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr21:15347257_15347258insA	ENST00000344693.5	-	0	736					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		ACCCTGCACAGAAAAAAAGTTG	0.307																																						ENST00000344693.5																			0																																																			0							g.chr21:15347257_15347258insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15347264_15347264dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.307	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			4	5						4	5	---	---	---	---
