#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PTCH2	8643	broad.mit.edu	37	1	45292686	45292686	+	Silent	SNP	G	G	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:45292686G>T	ENST00000372192.3	-	17	2713	c.2583C>A	c.(2581-2583)acC>acA	p.T861T	PTCH2_ENST00000447098.2_Silent_p.T861T	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	861					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCACCCACACGGTCAGCCCCA	0.622									Basal Cell Nevus syndrome																													uc010olf.1		NA																	0				lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18						c.(2581-2583)ACC>ACA		patched 2							131.0	134.0	133.0					1																	45292686		2203	4300	6503	SO:0001819	synonymous_variant	8643	Basal_Cell_Nevus_syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45292686G>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2583C>A	1.37:g.45292686G>T						PTCH2_uc010olg.1_Silent_p.T559T	p.T861T	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			17	2595	-	Acute lymphoblastic leukemia(166;0.155)		861			Extracellular (Potential).		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	c.2583C>A	CCDS516.1																																																																																				0.622	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		39	189	1	0	4.14e-20	4.78e-20	39	189				
SETDB1	9869	broad.mit.edu	37	1	150923168	150923168	+	Silent	SNP	A	A	G			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:150923168A>G	ENST00000271640.5	+	13	2005	c.1815A>G	c.(1813-1815)ctA>ctG	p.L605L	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Silent_p.L605L	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	605	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCCGTTACTATATGACTTCC	0.517																																						uc001evu.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1813-1815)CTA>CTG		SET domain, bifurcated 1 isoform 1							87.0	85.0	85.0					1																	150923168		2203	4300	6503	SO:0001819	synonymous_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150923168A>G	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1815A>G	1.37:g.150923168A>G						SETDB1_uc009wmf.2_Silent_p.L606L|SETDB1_uc001evv.2_Silent_p.L605L|SETDB1_uc009wmg.1_Silent_p.L605L	p.L605L	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	2005	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		605			MBD.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	ENST00000271640.5	37	c.1815A>G	CCDS44217.1																																																																																				0.517	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			37	38	0	0	0	0	37	38				
AXDND1	126859	broad.mit.edu	37	1	179497484	179497484	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:179497484A>T	ENST00000367618.3	+	23	3020	c.2633A>T	c.(2632-2634)aAg>aTg	p.K878M		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	878	Glu-rich.							p.K878M(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TCTACAGAGAAGGAAAAACTC	0.428																																						uc001gmo.2		NA																	1	Substitution - Missense(1)	p.K878M(1)	upper_aerodigestive_tract(1)		0						c.(2632-2634)AAG>ATG		hypothetical protein LOC126859 isoform 1							109.0	97.0	101.0					1																	179497484		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179497484A>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2633A>T	1.37:g.179497484A>T	ENSP00000356590:p.Lys878Met					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.K804M|C1orf125_uc009wxh.2_RNA	p.K878M	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			23	2760	+			878			Glu-rich.		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.2633A>T	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	A	7.039	0.562232	0.13498	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000359183;ENST00000434088	T;T	0.25085	1.98;1.82	3.29	2.15	0.27550	.	0.921584	0.09037	N	0.857893	T	0.22085	0.0532	L	0.36672	1.1	0.09310	N	0.999999	B;B	0.27732	0.187;0.187	B;B	0.34590	0.186;0.157	T	0.37314	-0.9711	10	0.56958	D	0.05	-8.3977	4.6071	0.12383	0.842:0.0:0.158:0.0	.	762;878	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	M	878;762;110;738	ENSP00000356590:K878M;ENSP00000391716:K738M	ENSP00000352107:K110M	K	+	2	0	AXDND1	177764107	0.000000	0.05858	0.003000	0.11579	0.597000	0.36814	0.069000	0.14552	0.658000	0.30925	0.533000	0.62120	AAG		0.428	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		13	38	0	0	0	0	13	38				
ASPM	259266	broad.mit.edu	37	1	197111689	197111689	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:197111689A>T	ENST00000367409.4	-	3	1949	c.1693T>A	c.(1693-1695)Tct>Act	p.S565T	ASPM_ENST00000294732.7_Missense_Mutation_p.S565T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	565					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTTGTCGAAGAGGGTGTTACC	0.343																																						uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(1693-1695)TCT>ACT		asp (abnormal spindle)-like, microcephaly							119.0	124.0	122.0					1																	197111689		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111689A>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1693T>A	1.37:g.197111689A>T	ENSP00000356379:p.Ser565Thr					ASPM_uc001gtv.2_Missense_Mutation_p.S565T|ASPM_uc001gtw.3_Intron	p.S565T	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			3	1950	-			565					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.1693T>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	6.316	0.426496	0.11987	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.58652	0.32;1.59	4.64	-5.65	0.02459	.	1.159710	0.06084	N	0.662438	T	0.38401	0.1039	L	0.42245	1.32	0.09310	N	1	B;B	0.30482	0.281;0.003	B;B	0.22601	0.04;0.002	T	0.14952	-1.0454	10	0.19590	T	0.45	.	4.4602	0.11663	0.3445:0.1104:0.4371:0.1081	.	565;565	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	T	565	ENSP00000356379:S565T;ENSP00000294732:S565T	ENSP00000294732:S565T	S	-	1	0	ASPM	195378312	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	0.062000	0.14389	-1.104000	0.03015	0.523000	0.50628	TCT		0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		27	83	0	0	0	0	27	83				
CD55	1604	broad.mit.edu	37	1	207504538	207504538	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:207504538G>A	ENST00000367064.3	+	6	1008	c.750G>A	c.(748-750)acG>acA	p.T250T	CD55_ENST00000367065.5_Silent_p.T250T|CD55_ENST00000391920.4_Silent_p.T250T|CD55_ENST00000391921.4_Silent_p.T186T|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367063.2_Silent_p.T250T|CD55_ENST00000367062.4_Silent_p.T250T|CD55_ENST00000314754.8_Silent_p.T250T	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	250	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)	p.T250T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	AGTCTGTAACGTATGCATGTA	0.383																																						uc001hfq.3		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(1)	1						c.(748-750)ACG>ACA		decay accelerating factor for complement isoform	Chloramphenicol(DB00446)						200.0	183.0	189.0					1																	207504538		2203	4300	6503	SO:0001819	synonymous_variant	1604				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	g.chr1:207504538G>A	BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"""CD molecules"", ""Blood group antigens"""	2665	protein-coding gene	gene with protein product		125240	"""decay accelerating factor for complement (CD55, Cromer blood group system)"""	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.750G>A	1.37:g.207504538G>A						CD55_uc001hfp.3_Silent_p.T250T|CD55_uc001hfr.3_Silent_p.T250T|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_Silent_p.T186T|CD55_uc009xce.2_Silent_p.T250T|CD55_uc009xcg.2_5'UTR	p.T250T	NM_000574	NP_000565	P08174	DAF_HUMAN			6	1044	+			250			Sushi 4.		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Silent	SNP	ENST00000367064.3	37	c.750G>A	CCDS31006.1	.	.	.	.	.	.	.	.	.	.	G	4.165	0.029175	0.08054	.	.	ENSG00000196352	ENST00000343420	.	.	.	5.13	-7.0	0.01599	.	.	.	.	.	T	0.15869	0.0382	.	.	.	0.21984	N	0.999438	.	.	.	.	.	.	T	0.30031	-0.9992	4	.	.	.	.	1.509	0.02492	0.3296:0.3723:0.1425:0.1557	.	.	.	.	H	260	.	.	R	+	2	0	CD55	205571161	0.092000	0.21681	0.001000	0.08648	0.001000	0.01503	0.221000	0.17680	-0.459000	0.07013	-0.142000	0.14014	CGT		0.383	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	NM_000574		33	78	0	0	0	0	33	78				
OR2T11	127077	broad.mit.edu	37	1	248789870	248789870	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:248789870G>T	ENST00000330803.2	-	1	621	c.560C>A	c.(559-561)gCa>gAa	p.A187E		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGACGTGTCTGCACAGGCCAG	0.468																																						uc001ier.1		NA																	0				lung(1)	1						c.(559-561)GCA>GAA		olfactory receptor, family 2, subfamily T,							71.0	73.0	72.0					1																	248789870		2051	4236	6287	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789870G>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.560C>A	1.37:g.248789870G>T	ENSP00000328934:p.Ala187Glu						p.A187E	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	560	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		187			Extracellular (Potential).		Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.560C>A	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	3.349	-0.132913	0.06711	.	.	ENSG00000183130	ENST00000330803	T	0.00130	8.69	4.32	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	0.160203	0.29328	N	0.012469	T	0.00109	0.0003	L	0.33753	1.03	0.09310	N	1	B	0.06786	0.001	B	0.18263	0.021	T	0.19224	-1.0312	10	0.42905	T	0.14	.	7.9771	0.30161	0.0915:0.1613:0.7471:0.0	.	187	Q8NH01	O2T11_HUMAN	E	187	ENSP00000328934:A187E	ENSP00000328934:A187E	A	-	2	0	OR2T11	246856493	0.001000	0.12720	0.711000	0.30485	0.022000	0.10575	0.967000	0.29344	1.024000	0.39682	-0.122000	0.15005	GCA		0.468	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		16	72	1	0	2.35e-11	2.64e-11	16	72				
ZMYND11	10771	broad.mit.edu	37	10	294963	294963	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr10:294963G>C	ENST00000397962.3	+	14	2049	c.1621G>C	c.(1621-1623)Gaa>Caa	p.E541Q	ZMYND11_ENST00000309776.4_Missense_Mutation_p.E501Q|ZMYND11_ENST00000558098.2_Missense_Mutation_p.E541Q|ZMYND11_ENST00000381591.1_Missense_Mutation_p.E541Q|ZMYND11_ENST00000402736.1_Missense_Mutation_p.E510Q|ZMYND11_ENST00000602682.1_Missense_Mutation_p.E456Q|ZMYND11_ENST00000397959.3_Missense_Mutation_p.E456Q|ZMYND11_ENST00000381602.4_Missense_Mutation_p.E501Q|ZMYND11_ENST00000381607.4_Missense_Mutation_p.E447Q|ZMYND11_ENST00000509513.2_Missense_Mutation_p.E540Q|ZMYND11_ENST00000403354.1_Missense_Mutation_p.E461Q|ZMYND11_ENST00000545619.1_Missense_Mutation_p.E421Q|ZMYND11_ENST00000381604.4_Missense_Mutation_p.E501Q|ZMYND11_ENST00000381584.1_Missense_Mutation_p.E524Q|ZMYND11_ENST00000535374.1_Missense_Mutation_p.E336Q			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	541	Interaction with human adenovirus E1A.				cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGAATTTGTAGAAGAAATCAA	0.388																																						uc010pzt.1		NA																	0					0						c.(1621-1623)GAA>CAA		zinc finger, MYND domain containing 11 isoform							97.0	96.0	96.0					10																	294963		2203	4300	6503	SO:0001583	missense	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:294963G>C	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.1621G>C	10.37:g.294963G>C	ENSP00000381053:p.Glu541Gln					ZMYND11_uc001ifk.2_Missense_Mutation_p.E540Q|ZMYND11_uc010pzu.1_Missense_Mutation_p.E541Q|ZMYND11_uc010pzv.1_Missense_Mutation_p.E486Q|ZMYND11_uc010pzw.1_Missense_Mutation_p.E456Q|ZMYND11_uc001ifm.2_Missense_Mutation_p.E487Q|ZMYND11_uc010pzx.1_Missense_Mutation_p.E541Q|ZMYND11_uc001ifn.2_Missense_Mutation_p.E487Q|ZMYND11_uc009xhg.2_Missense_Mutation_p.E524Q|ZMYND11_uc009xhh.2_Missense_Mutation_p.E415Q|ZMYND11_uc010pzy.1_Missense_Mutation_p.E393Q	p.E541Q	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	14	2049	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	501			Interaction with human adenovirus E1A.		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	c.1621G>C	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643455	0.67244	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619;ENST00000535374	.	.	.	5.78	4.87	0.63330	.	0.099743	0.64402	D	0.000002	T	0.62696	0.2449	L	0.27053	0.805	0.40556	D	0.981169	D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.997;0.99;0.993;0.999;0.993;0.997;0.999;0.996;0.997	D;P;P;P;D;D;D;D;P;D	0.80764	0.934;0.882;0.815;0.777;0.934;0.968;0.909;0.994;0.867;0.909	T	0.62821	-0.6773	8	0.20519	T	0.43	-26.434	15.3235	0.74141	0.0673:0.0:0.9327:0.0	.	501;541;456;486;541;461;470;487;487;510	Q15326;Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	ZMY11_HUMAN;.;.;.;.;.;.;.;.;.	Q	541;501;501;541;456;541;461;447;510;501;524;421;336	.	ENSP00000309992:E501Q	E	+	1	0	ZMYND11	284963	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	9.813000	0.99286	1.588000	0.49971	-0.150000	0.13652	GAA		0.388	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		5	35	0	0	0	0	5	35				
SKIDA1	387640	broad.mit.edu	37	10	21804807	21804807	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr10:21804807G>A	ENST00000449193.2	-	4	4197	c.1945C>T	c.(1945-1947)Ccc>Tcc	p.P649S	SKIDA1_ENST00000444772.3_Missense_Mutation_p.P570S	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	568						nucleus (GO:0005634)											TGCGAAGAGGGCAAATCCGTA	0.438																																						uc009xkd.2		NA																	0				ovary(1)	1						c.(1945-1947)CCC>TCC		hypothetical protein LOC387640							60.0	60.0	60.0					10																	21804807		1904	4133	6037	SO:0001583	missense	387640					nucleus	nucleotide binding	g.chr10:21804807G>A	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1945C>T	10.37:g.21804807G>A	ENSP00000410041:p.Pro649Ser					uc001iqp.1_Intron	p.P649S	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN			4	4198	-			568					B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	c.1945C>T	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	G	4.511	0.094824	0.08681	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.76	2.82	0.32997	.	0.559750	0.19713	N	0.107766	T	0.38081	0.1027	L	0.34521	1.04	0.34415	D	0.69686	B	0.12630	0.006	B	0.08055	0.003	T	0.37865	-0.9687	9	0.54805	T	0.06	-10.784	7.0795	0.25223	0.1506:0.0:0.7109:0.1385	.	649	E9PAX1	.	S	649;570	.	ENSP00000442432:P570S	P	-	1	0	C10orf140	21844813	1.000000	0.71417	0.997000	0.53966	0.490000	0.33462	2.721000	0.47260	0.326000	0.23384	-0.195000	0.12781	CCC		0.438	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		3	40	0	0	0	0	3	40				
BMS1	9790	broad.mit.edu	37	10	43316394	43316394	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr10:43316394C>T	ENST00000374518.5	+	18	3026	c.2963C>T	c.(2962-2964)cCa>cTa	p.P988L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	988					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCTATCACTCCACAGGGAACT	0.358																																						uc001jaj.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2962-2964)CCA>CTA		BMS1-like, ribosome assembly protein							80.0	94.0	89.0					10																	43316394		1352	2339	3691	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43316394C>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2963C>T	10.37:g.43316394C>T	ENSP00000363642:p.Pro988Leu						p.P988L	NM_014753	NP_055568	Q14692	BMS1_HUMAN			18	3321	+			988					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.2963C>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177362	0.78564	.	.	ENSG00000165733	ENST00000374518	T	0.16196	2.36	4.31	4.31	0.51392	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.072417	0.56097	D	0.000037	T	0.39759	0.1090	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.31530	-0.9940	10	0.11794	T	0.64	.	17.2183	0.86950	0.0:1.0:0.0:0.0	.	988	Q14692	BMS1_HUMAN	L	988	ENSP00000363642:P988L	ENSP00000363642:P988L	P	+	2	0	BMS1	42636400	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.985000	0.76193	2.119000	0.64992	0.454000	0.30748	CCA		0.358	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		30	23	0	0	0	0	30	23				
FJX1	24147	broad.mit.edu	37	11	35641069	35641069	+	Silent	SNP	C	C	T	rs77030854		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:35641069C>T	ENST00000317811.4	+	1	1335	c.885C>T	c.(883-885)ttC>ttT	p.F295F		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	295					retina layer formation (GO:0010842)	extracellular space (GO:0005615)				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				TAATCCTTTTCGACTACCTGA	0.647																																					Melanoma(161;10 2587 27165 47356)	uc001mwh.2		NA																	0					0						c.(883-885)TTC>TTT		four jointed box 1 precursor							47.0	51.0	50.0					11																	35641069		2056	4190	6246	SO:0001819	synonymous_variant	24147					extracellular space		g.chr11:35641069C>T	AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"""putative secreted ligand homologous to fjx1"""	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.885C>T	11.37:g.35641069C>T							p.F295F	NM_014344	NP_055159	Q86VR8	FJX1_HUMAN			1	1335	+	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)	295					B2RCA9|Q9UGK6	Silent	SNP	ENST00000317811.4	37	c.885C>T	CCDS44570.1																																																																																				0.647	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389078.1	NM_014344		7	38	0	0	0	0	7	38				
MS4A2	2206	broad.mit.edu	37	11	59860935	59860935	+	Silent	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:59860935C>T	ENST00000278888.3	+	5	543	c.441C>T	c.(439-441)atC>atT	p.I147I		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	147					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GAATTACCATCCTGATCATCA	0.478																																						uc001nop.2		NA																	0				ovary(1)	1						c.(439-441)ATC>ATT		membrane-spanning 4-domains, subfamily A, member	Omalizumab(DB00043)						154.0	141.0	145.0					11																	59860935		2201	4295	6496	SO:0001819	synonymous_variant	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59860935C>T	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.441C>T	11.37:g.59860935C>T						MS4A2_uc009ymu.2_Silent_p.I147I	p.I147I	NM_000139	NP_000130	Q01362	FCERB_HUMAN			5	543	+		all_epithelial(135;0.245)	147			Helical; (Potential).		Q54A81	Silent	SNP	ENST00000278888.3	37	c.441C>T	CCDS7980.1																																																																																				0.478	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			28	83	0	0	0	0	28	83				
NRXN2	9379	broad.mit.edu	37	11	64419615	64419615	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:64419615C>T	ENST00000377551.1	-	12	2639	c.2428G>A	c.(2428-2430)Gaa>Aaa	p.E810K	NRXN2_ENST00000265459.6_Missense_Mutation_p.E810K|NRXN2_ENST00000409571.1_Missense_Mutation_p.E803K|NRXN2_ENST00000377559.3_Missense_Mutation_p.E770K|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	810	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.E810K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AACAGCGTTTCGGGGCCTTTA	0.577																																						uc001oar.2		NA																	1	Substitution - Missense(1)	p.E810K(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(2428-2430)GAA>AAA		neurexin 2 isoform alpha-1 precursor							74.0	55.0	61.0					11																	64419615		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64419615C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2428G>A	11.37:g.64419615C>T	ENSP00000366774:p.Glu810Lys					NRXN2_uc001oas.2_Missense_Mutation_p.E770K|NRXN2_uc001oaq.2_Missense_Mutation_p.E477K	p.E810K	NM_015080	NP_055895	P58401	NRX2B_HUMAN			14	2867	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.2428G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531810	0.85706	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	4.91	4.91	0.64330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.43260	U	0.000595	D	0.84410	0.5466	L	0.55743	1.74	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.996	D;D;P	0.91635	0.999;0.962;0.823	T	0.81562	-0.0876	10	0.27082	T	0.32	.	15.6201	0.76799	0.0:1.0:0.0:0.0	.	770;810;556	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	K	810;770;810;770;803	ENSP00000366774:E810K;ENSP00000366782:E770K;ENSP00000265459:E810K;ENSP00000386416:E803K	ENSP00000265459:E810K	E	-	1	0	NRXN2	64176191	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	7.610000	0.82949	2.553000	0.86117	0.561000	0.74099	GAA		0.577	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		6	42	0	0	0	0	6	42				
GNB3	2784	broad.mit.edu	37	12	6954826	6954826	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr12:6954826A>G	ENST00000229264.3	+	10	1181	c.776A>G	c.(775-777)cAg>cGg	p.Q259R	GNB3_ENST00000435982.2_Missense_Mutation_p.Q258R|CDCA3_ENST00000422785.3_3'UTR|CDCA3_ENST00000604599.1_5'UTR	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	259					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CGGGCAGACCAGGAGCTGATC	0.617																																						uc001qrd.2		NA																	0					0						c.(775-777)CAG>CGG		guanine nucleotide-binding protein, beta-3							124.0	113.0	117.0					12																	6954826		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6954826A>G		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.776A>G	12.37:g.6954826A>G	ENSP00000229264:p.Gln259Arg					GNB3_uc001qrc.2_Missense_Mutation_p.Q215R|GNB3_uc009zfe.2_Missense_Mutation_p.Q258R|CDCA3_uc001qre.2_3'UTR|uc001qrf.1_RNA	p.Q259R	NM_002075	NP_002066	P16520	GBB3_HUMAN			10	1181	+			259					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.776A>G	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	A	6.341	0.430997	0.12045	.	.	ENSG00000111664	ENST00000229264;ENST00000435982;ENST00000537035	T;T;T	0.01304	5.05;5.05;5.03	4.49	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.01061	0.0035	N	0.11364	0.135	0.80722	D	1	B;B	0.28324	0.128;0.207	B;B	0.28139	0.078;0.086	T	0.64799	-0.6322	10	0.11485	T	0.65	-4.2972	13.9593	0.64168	1.0:0.0:0.0:0.0	.	258;259	E9PCP0;P16520	.;GBB3_HUMAN	R	259;258;218	ENSP00000229264:Q259R;ENSP00000414734:Q258R;ENSP00000445967:Q218R	ENSP00000229264:Q259R	Q	+	2	0	GNB3	6825087	1.000000	0.71417	0.999000	0.59377	0.004000	0.04260	9.139000	0.94554	1.876000	0.54355	0.459000	0.35465	CAG		0.617	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		69	117	0	0	0	0	69	117				
TUBA1B	10376	broad.mit.edu	37	12	49522572	49522572	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr12:49522572G>A	ENST00000336023.5	-	4	619	c.525C>T	c.(523-525)ccC>ccT	p.P175P	RP11-386G11.10_ENST00000547712.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000551496.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	175					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						TGGAAACCTGGGGTGCTGGGT	0.537																																						uc001rto.2		NA																	0					0						c.(418-420)CCC>CCT		tubulin, alpha, ubiquitous							40.0	60.0	53.0					12																	49522572		2203	4299	6502	SO:0001819	synonymous_variant	10376				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding	g.chr12:49522572G>A	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.525C>T	12.37:g.49522572G>A						TUBA1B_uc001rtk.2_Silent_p.P140P|TUBA1B_uc001rtl.2_Silent_p.P140P|TUBA1B_uc001rtn.2_Silent_p.P22P|TUBA1B_uc001rtm.2_Silent_p.P175P|uc010smg.1_Missense_Mutation_p.G135R	p.P140P	NM_006082	NP_006073	P68363	TBA1B_HUMAN			3	522	-			175					P04687|P05209|Q27I68|Q8WU19	Silent	SNP	ENST00000336023.5	37	c.420C>T	CCDS31792.1																																																																																				0.537	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082		4	27	0	0	0	0	4	27				
CPM	1368	broad.mit.edu	37	12	69264160	69264160	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr12:69264160C>T	ENST00000551568.1	-	5	511	c.451G>A	c.(451-453)Gac>Aac	p.D151N	CPM_ENST00000338356.3_Missense_Mutation_p.D151N|CPM_ENST00000546373.1_Missense_Mutation_p.D151N	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	151					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CGATTCAAGTCATACTGGTTA	0.388																																						uc001sup.2		NA																	0					0						c.(451-453)GAC>AAC		carboxypeptidase M precursor							63.0	65.0	65.0					12																	69264160		2203	4300	6503	SO:0001583	missense	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69264160C>T	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.451G>A	12.37:g.69264160C>T	ENSP00000448517:p.Asp151Asn					CPM_uc001sur.2_Missense_Mutation_p.D151N|CPM_uc001suq.2_Missense_Mutation_p.D151N	p.D151N	NM_198320	NP_938079	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		5	512	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		151					B2R800|Q9H2K9	Missense_Mutation	SNP	ENST00000551568.1	37	c.451G>A	CCDS8987.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009331	0.75046	.	.	ENSG00000135678	ENST00000551568;ENST00000338356;ENST00000546373;ENST00000548954	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.36	5.36	0.76844	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.60470	0.2271	M	0.91300	3.195	0.80722	D	1	D	0.67145	0.996	D	0.65987	0.94	T	0.68957	-0.5272	9	.	.	.	-28.1694	19.4744	0.94982	0.0:1.0:0.0:0.0	.	151	P14384	CBPM_HUMAN	N	151	ENSP00000448517:D151N;ENSP00000339157:D151N;ENSP00000447255:D151N;ENSP00000446799:D151N	.	D	-	1	0	CPM	67550427	1.000000	0.71417	0.985000	0.45067	0.197000	0.23852	7.614000	0.82996	2.685000	0.91497	0.650000	0.86243	GAC		0.388	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		23	24	0	0	0	0	23	24				
NAV3	89795	broad.mit.edu	37	12	78400845	78400845	+	Silent	SNP	C	C	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr12:78400845C>A	ENST00000397909.2	+	8	1700	c.1527C>A	c.(1525-1527)ggC>ggA	p.G509G	NAV3_ENST00000266692.7_Silent_p.G509G|NAV3_ENST00000228327.6_Silent_p.G509G|NAV3_ENST00000536525.2_Silent_p.G509G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	509						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCCCTAAGGGCAGCAAGACAA	0.423										HNSCC(70;0.22)																												uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1525-1527)GGC>GGA		neuron navigator 3							75.0	73.0	74.0					12																	78400845		1915	4125	6040	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400845C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1527C>A	12.37:g.78400845C>A		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.G509G	p.G509G	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1700	+			509					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.1527C>A																																																																																					0.423	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		14	40	1	0	7.93e-07	8.64e-07	14	40				
RNASE13	440163	broad.mit.edu	37	14	21502302	21502302	+	Missense_Mutation	SNP	C	C	T	rs146892669		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr14:21502302C>T	ENST00000382951.3	-	2	283	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	49						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.R49Q(1)		cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		ACAATAGCCCCGGAAACCCTT	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		20680	0.001		0.0	False		,,,				2504	0.0					uc001vzj.2		NA																	1	Substitution - Missense(1)	p.R49Q(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(145-147)CGG>CAG		ribonuclease, RNase A family, 13 precursor							102.0	92.0	96.0					14																	21502302		2203	4300	6503	SO:0001583	missense	440163					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21502302C>T	AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"""Ribonucleases, RNase A"""	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.146G>A	14.37:g.21502302C>T	ENSP00000372410:p.Arg49Gln					NDRG2_uc010tll.1_Intron	p.R49Q	NM_001012264	NP_001012264	Q5GAN3	RNS13_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)	2	284	-	all_cancers(95;0.000759)		49						Missense_Mutation	SNP	ENST00000382951.3	37	c.146G>A	CCDS32039.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.022	-1.409053	0.01155	.	.	ENSG00000206150	ENST00000382951	T	0.72942	-0.7	5.12	-7.42	0.01388	Ribonuclease A, domain (2);	1.119070	0.06690	N	0.769539	T	0.37293	0.0998	N	0.02916	-0.46	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.25813	-1.0121	10	0.17369	T	0.5	-0.0209	6.8703	0.24117	0.2672:0.4909:0.0:0.2418	.	49	Q5GAN3	RNS13_HUMAN	Q	49	ENSP00000372410:R49Q	ENSP00000372410:R49Q	R	-	2	0	RNASE13	20572142	0.000000	0.05858	0.030000	0.17652	0.105000	0.19272	-0.979000	0.03774	-1.363000	0.02164	-1.153000	0.01818	CGG		0.468	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411744.1			78	44	0	0	0	0	78	44				
FSCB	84075	broad.mit.edu	37	14	44975348	44975348	+	Silent	SNP	C	C	T	rs369534563	byFrequency	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr14:44975348C>T	ENST00000340446.4	-	1	1134	c.843G>A	c.(841-843)gcG>gcA	p.A281A	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	281						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GTCTGGGCTCCGCTTTAGCAG	0.478													C|||	4	0.000798722	0.0008	0.0	5008	,	,		16877	0.003		0.0	False		,,,				2504	0.0					uc001wvn.2		NA																	0				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(841-843)GCG>GCA		fibrous sheath CABYR binding protein		C		1,4405	2.1+/-5.4	0,1,2202	55.0	57.0	56.0		843	-7.7	0.0	14		56	0,8600		0,0,4300	no	coding-synonymous	FSCB	NM_032135.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		281/826	44975348	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44975348C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.843G>A	14.37:g.44975348C>T							p.A281A	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1152	-			281					Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.843G>A	CCDS9679.1																																																																																				0.478	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		18	40	0	0	0	0	18	40				
AHSA1	10598	broad.mit.edu	37	14	77926055	77926055	+	Silent	SNP	G	G	A	rs146186794	byFrequency	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr14:77926055G>A	ENST00000216479.3	+	2	337	c.177G>A	c.(175-177)acG>acA	p.T59T	VIPAS39_ENST00000343765.2_5'Flank|VIPAS39_ENST00000556909.1_5'Flank|VIPAS39_ENST00000557658.1_5'Flank|AHSA1_ENST00000535854.2_Silent_p.T59T|VIPAS39_ENST00000448935.2_5'Flank|VIPAS39_ENST00000556412.1_5'Flank|VIPAS39_ENST00000327028.4_5'Flank|VIPAS39_ENST00000553888.1_5'Flank|AHSA1_ENST00000555517.1_Silent_p.T59T	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	59					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GTGAGGTGACGGAAGTGAGTA	0.448													G|||	10	0.00199681	0.0076	0.0	5008	,	,		23559	0.0		0.0	False		,,,				2504	0.0					uc001xtw.2		NA																	0					0						c.(175-177)ACG>ACA		activator of heat shock 90kDa protein ATPase		G		60,4346	57.4+/-93.9	1,58,2144	211.0	183.0	193.0		177	-5.9	1.0	14	dbSNP_134	193	0,8600		0,0,4300	no	coding-synonymous	AHSA1	NM_012111.2		1,58,6444	AA,AG,GG		0.0,1.3618,0.4613		59/339	77926055	60,12946	2203	4300	6503	SO:0001819	synonymous_variant	10598				protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding	g.chr14:77926055G>A	AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"""chromosome 14 open reading frame 3"""	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.177G>A	14.37:g.77926055G>A						VIPAR_uc001xtt.1_5'Flank|VIPAR_uc001xtu.1_5'Flank|VIPAR_uc010tvj.1_5'Flank|VIPAR_uc001xtv.1_5'Flank|AHSA1_uc010tvk.1_Silent_p.T59T	p.T59T	NM_012111	NP_036243	O95433	AHSA1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	2	337	+			59					B2R9L2|B4DUR9|Q96IL6|Q9P060	Silent	SNP	ENST00000216479.3	37	c.177G>A	CCDS9863.1	.	.	.	.	.	.	.	.	.	.	G	9.605	1.129772	0.21041	0.013618	0.0	ENSG00000100591	ENST00000553374	.	.	.	5.58	-5.91	0.02269	.	.	.	.	.	T	0.40222	0.1108	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48864	-0.8997	4	.	.	.	-13.4814	7.6605	0.28400	0.4134:0.3316:0.255:0.0	.	.	.	.	R	5	.	.	G	+	1	0	AHSA1	76995808	0.002000	0.14202	0.961000	0.40146	0.909000	0.53808	-1.082000	0.03400	-1.034000	0.03295	-1.068000	0.02270	GGA		0.448	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111		74	56	0	0	0	0	74	56				
TLN2	83660	broad.mit.edu	37	15	63054621	63054621	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr15:63054621G>A	ENST00000561311.1	+	38	5160	c.4930G>A	c.(4930-4932)Gac>Aac	p.D1644N	TLN2_ENST00000472902.1_Missense_Mutation_p.D37N|TLN2_ENST00000306829.6_Missense_Mutation_p.D1644N			Q9Y4G6	TLN2_HUMAN	talin 2	1644					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D1644N(2)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TACAGTGTCCGACTCCATCAA	0.557																																						uc002alb.3		NA																	2	Substitution - Missense(2)	p.D1644N(1)	upper_aerodigestive_tract(1)|ovary(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(4930-4932)GAC>AAC		talin 2							191.0	168.0	176.0					15																	63054621		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63054621G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4930G>A	15.37:g.63054621G>A	ENSP00000453508:p.Asp1644Asn					TLN2_uc002alc.3_Missense_Mutation_p.D37N|TLN2_uc002ald.2_Missense_Mutation_p.D37N	p.D1644N	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			36	4930	+			1644					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.4930G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031299	0.93575	.	.	ENSG00000171914	ENST00000306829	T	0.15834	2.39	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.41805	-0.9488	10	0.33141	T	0.24	-24.7648	18.7532	0.91823	0.0:0.0:1.0:0.0	.	688;1644	G1UI21;Q9Y4G6	.;TLN2_HUMAN	N	1644	ENSP00000303476:D1644N	ENSP00000303476:D1644N	D	+	1	0	TLN2	60841913	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	9.813000	0.99286	2.426000	0.82243	0.655000	0.94253	GAC		0.557	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			39	91	0	0	0	0	39	91				
HEXA	3073	broad.mit.edu	37	15	72641550	72641550	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr15:72641550T>C	ENST00000268097.5	-	8	1359	c.856A>G	c.(856-858)Acc>Gcc	p.T286A	HEXA_ENST00000566304.1_Missense_Mutation_p.T297A|HEXA_ENST00000457859.2_Missense_Mutation_p.T94A|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.T286A|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.T113A	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	286					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)	p.T286A(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GGTCCAAAGGTGCCAGAGGGC	0.443																																						uc002aun.3		NA																	1	Substitution - Missense(1)	p.T286A(1)	upper_aerodigestive_tract(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(856-858)ACC>GCC		hexosaminidase A preproprotein							93.0	88.0	90.0					15																	72641550		2199	4297	6496	SO:0001583	missense	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72641550T>C	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.856A>G	15.37:g.72641550T>C	ENSP00000268097:p.Thr286Ala					uc002aug.2_Intron|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Missense_Mutation_p.T297A|HEXA_uc002auo.3_Missense_Mutation_p.T149A|HEXA_uc010bix.2_Missense_Mutation_p.T286A|HEXA_uc010biy.2_Missense_Mutation_p.T149A|HEXA_uc010uko.1_Missense_Mutation_p.T112A|HEXA_uc010biz.1_RNA	p.T286A	NM_000520	NP_000511	P06865	HEXA_HUMAN			8	1063	-			286					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	c.856A>G	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.662886	0.29515	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.95656	-3.77;-3.77;-3.77	5.61	3.27	0.37495	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.253295	0.38778	N	0.001567	D	0.91938	0.7447	M	0.74881	2.28	0.09310	N	0.999999	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.13407	0.001;0.009;0.001;0.0;0.001	T	0.76119	-0.3076	10	0.07644	T	0.81	-7.974	4.8364	0.13468	0.1279:0.2071:0.0:0.6649	.	113;297;113;166;286	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	A	286;94;113	ENSP00000268097:T286A;ENSP00000398026:T94A;ENSP00000416187:T113A	ENSP00000268097:T286A	T	-	1	0	HEXA	70428604	0.026000	0.19158	0.837000	0.33122	0.977000	0.68977	0.437000	0.21543	0.398000	0.25338	0.533000	0.62120	ACC		0.443	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		25	25	0	0	0	0	25	25				
IRX6	79190	broad.mit.edu	37	16	55360387	55360387	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr16:55360387C>T	ENST00000290552.7	+	2	1517	c.185C>T	c.(184-186)cCg>cTg	p.P62L	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	62					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AGTGCGCGACCGGAGCTGGGC	0.667																																						uc002ehy.2		NA																	0				central_nervous_system(5)|ovary(1)	6						c.(184-186)CCG>CTG		iroquois homeobox protein 6							24.0	22.0	23.0					16																	55360387		2198	4299	6497	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55360387C>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.185C>T	16.37:g.55360387C>T	ENSP00000290552:p.Pro62Leu					IRX6_uc002ehx.2_Missense_Mutation_p.P62L|IRX6_uc010ccb.1_RNA	p.P62L	NM_024335	NP_077311	P78412	IRX6_HUMAN			2	718	+			62					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.185C>T	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679256	0.47886	.	.	ENSG00000159387	ENST00000290552	D	0.83673	-1.75	5.19	4.21	0.49690	.	0.195701	0.44097	D	0.000491	T	0.79446	0.4447	L	0.33189	0.99	0.46298	D	0.998973	D	0.62365	0.991	P	0.48189	0.57	T	0.79067	-0.1955	10	0.37606	T	0.19	-16.7588	14.9819	0.71316	0.1437:0.8563:0.0:0.0	.	62	P78412	IRX6_HUMAN	L	62	ENSP00000290552:P62L	ENSP00000290552:P62L	P	+	2	0	IRX6	53917888	0.979000	0.34478	0.361000	0.25849	0.058000	0.15608	2.588000	0.46137	1.376000	0.46267	0.462000	0.41574	CCG		0.667	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		7	23	0	0	0	0	7	23				
PRSS54	221191	broad.mit.edu	37	16	58324903	58324903	+	Missense_Mutation	SNP	C	C	T	rs142664927	byFrequency	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr16:58324903C>T	ENST00000219301.4	-	4	617	c.223G>A	c.(223-225)Gag>Aag	p.E75K	PRSS54_ENST00000543437.1_Intron|PRSS54_ENST00000567164.1_Missense_Mutation_p.E75K	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	75	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.E75K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACCCAGAACTCGCTCAGGATG	0.647																																						uc002enf.2		NA																	1	Substitution - Missense(1)	p.E75K(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(223-225)GAG>AAG		plasma kallikrein-like protein 4 precursor		C	LYS/GLU	0,4396		0,0,2198	99.0	81.0	87.0		223	2.8	1.0	16	dbSNP_134	87	2,8598	2.2+/-6.3	0,2,4298	no	missense	PRSS54	NM_001080492.1	56	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	75/396	58324903	2,12994	2198	4300	6498	SO:0001583	missense	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58324903C>T	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.223G>A	16.37:g.58324903C>T	ENSP00000219301:p.Glu75Lys					PRSS54_uc002eng.2_Missense_Mutation_p.E75K|PRSS54_uc010vie.1_Intron	p.E75K	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN			4	618	-			75			Peptidase S1.		Q96LN9|Q9NT77	Missense_Mutation	SNP	ENST00000219301.4	37	c.223G>A	CCDS32463.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788863	0.70337	0.0	2.33E-4	ENSG00000103023	ENST00000219301	T	0.60040	0.22	5.85	2.75	0.32379	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.206474	0.34002	N	0.004344	T	0.68128	0.2967	M	0.63428	1.95	0.32726	N	0.509647	D	0.67145	0.996	P	0.60682	0.878	T	0.74774	-0.3551	10	0.39692	T	0.17	-14.4306	14.0396	0.64667	0.0:0.5604:0.4396:0.0	.	75	Q6PEW0	PRS54_HUMAN	K	75	ENSP00000219301:E75K	ENSP00000219301:E75K	E	-	1	0	PRSS54	56882404	1.000000	0.71417	0.995000	0.50966	0.934000	0.57294	1.723000	0.38053	0.348000	0.23949	-0.165000	0.13383	GAG		0.647	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		15	54	0	0	0	0	15	54				
HYDIN	54768	broad.mit.edu	37	16	71025263	71025263	+	Silent	SNP	T	T	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr16:71025263T>C	ENST00000393567.2	-	25	3972	c.3822A>G	c.(3820-3822)gaA>gaG	p.E1274E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1274					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTAGTTCTTTTTCTTCAGGCC	0.468																																						uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(3820-3822)GAA>GAG		hydrocephalus inducing isoform a							105.0	99.0	100.0					16																	71025263		1909	4141	6050	SO:0001819	synonymous_variant	54768							g.chr16:71025263T>C	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3822A>G	16.37:g.71025263T>C							p.E1274E	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			25	3950	-		Ovarian(137;0.0654)	1274					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.3822A>G	CCDS59269.1																																																																																				0.468	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			23	28	0	0	0	0	23	28				
CENPBD1	92806	broad.mit.edu	37	16	90038224	90038224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr16:90038224G>A	ENST00000314994.3	-	1	718	c.107C>T	c.(106-108)gCg>gTg	p.A36V	RP11-566K11.5_ENST00000565150.1_RNA|AFG3L1P_ENST00000437774.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	36	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(2)	3						CTTCTCACCCGCTTCAAATCG	0.468																																						uc002fpr.2		NA																	0					0						c.(106-108)GCG>GTG		CENPB DNA-binding domains containing 1							48.0	54.0	52.0					16																	90038224		2145	4264	6409	SO:0001583	missense	92806				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:90038224G>A	AK056131	CCDS45556.1	16q24.3	2009-08-26			ENSG00000177946	ENSG00000177946			28272	protein-coding gene	gene with protein product							Standard	NM_145039		Approved	MGC16385	uc002fpr.3	B2RD01		ENST00000314994.3:c.107C>T	16.37:g.90038224G>A	ENSP00000393854:p.Ala36Val					AFG3L1_uc002fps.1_5'Flank|AFG3L1_uc002fpt.1_5'Flank|AFG3L1_uc002fpu.1_5'Flank|AFG3L1_uc002fpv.1_5'Flank|AFG3L1_uc002fpw.1_5'Flank|AFG3L1_uc002fpx.1_5'Flank	p.A36V	NM_145039	NP_659476	B2RD01	CENP1_HUMAN			1	719	-			36			HTH psq-type.			Missense_Mutation	SNP	ENST00000314994.3	37	c.107C>T	CCDS45556.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.316122	0.23908	.	.	ENSG00000177946	ENST00000314994	T	0.46063	0.88	4.57	-9.14	0.00701	Homeodomain-related (1);Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	.	.	.	.	T	0.20170	0.0485	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.16217	-1.0410	9	0.33141	T	0.24	.	1.4004	0.02270	0.1995:0.1077:0.245:0.4479	.	36	B2RD01	CENP1_HUMAN	V	36	ENSP00000393854:A36V	ENSP00000393854:A36V	A	-	2	0	CENPBD1	88565725	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.402000	0.02499	-1.663000	0.01481	-0.311000	0.09066	GCG		0.468	CENPBD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421897.1	NM_145039		12	25	0	0	0	0	12	25				
CLUH	23277	broad.mit.edu	37	17	2598736	2598736	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr17:2598736G>A	ENST00000570628.2	-	14	2464	c.2359C>T	c.(2359-2361)Cgc>Tgc	p.R787C	CLUH_ENST00000538975.1_Missense_Mutation_p.R787C|CLUH_ENST00000435359.1_Missense_Mutation_p.R787C			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	787					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CCCAGGTAGCGCATGTTGATG	0.697																																						uc002fuy.1		NA																	0				breast(2)	2						c.(2359-2361)CGC>TGC		hypothetical protein LOC23277							33.0	39.0	37.0					17																	2598736		2126	4225	6351	SO:0001583	missense	23277						binding	g.chr17:2598736G>A	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.2359C>T	17.37:g.2598736G>A	ENSP00000458986:p.Arg787Cys					KIAA0664_uc002fux.1_Missense_Mutation_p.R720C|KIAA0664_uc010ckc.1_5'Flank	p.R787C	NM_015229	NP_056044	O75153	K0664_HUMAN			14	2445	-			787					Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.2359C>T	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192266	0.94960	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.91843	-2.92;-2.92	5.24	5.24	0.73138	.	0.062767	0.64402	D	0.000005	D	0.96034	0.8708	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96486	0.9360	10	0.87932	D	0	.	17.8022	0.88591	0.0:0.0:1.0:0.0	.	787;788	O75153;C9J6D7	K0664_HUMAN;.	C	787;788;787	ENSP00000388872:R787C;ENSP00000439628:R787C	ENSP00000320468:R788C	R	-	1	0	KIAA0664	2545486	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.476000	0.97823	2.456000	0.83038	0.491000	0.48974	CGC		0.697	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		18	41	0	0	0	0	18	41				
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		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)	uc002gim.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		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	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_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (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.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	4	0	0	0	0	28	4				
HSF5	124535	broad.mit.edu	37	17	56536136	56536136	+	Silent	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr17:56536136C>T	ENST00000323777.3	-	5	1822	c.1713G>A	c.(1711-1713)aaG>aaA	p.K571K	AC023992.1_ENST00000581197.1_RNA	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	571					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACCAGGGGACTTTCCTTGTT	0.418																																						uc002iwi.1		NA																	0				ovary(2)|skin(1)	3						c.(1711-1713)AAG>AAA		heat shock transcription factor family member 5							160.0	134.0	143.0					17																	56536136		2203	4300	6503	SO:0001819	synonymous_variant	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56536136C>T	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1713G>A	17.37:g.56536136C>T							p.K571K	NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN			5	1837	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		571					Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	37	c.1713G>A	CCDS32690.1																																																																																				0.418	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		16	28	0	0	0	0	16	28				
KIAA1468	57614	broad.mit.edu	37	18	59928798	59928798	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr18:59928798C>A	ENST00000398130.2	+	16	2489	c.2257C>A	c.(2257-2259)Cag>Aag	p.Q753K	KIAA1468_ENST00000256858.6_Missense_Mutation_p.Q753K	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	753								p.Q753K(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTCTGCCTTGCAGTCCTTGAT	0.433																																						uc002lil.2		NA																	1	Substitution - Missense(1)	p.Q753K(1)	upper_aerodigestive_tract(1)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(2257-2259)CAG>AAG		hypothetical protein LOC57614							239.0	172.0	195.0					18																	59928798		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59928798C>A	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2257C>A	18.37:g.59928798C>A	ENSP00000381198:p.Gln753Lys					KIAA1468_uc002lik.1_Missense_Mutation_p.Q753K|KIAA1468_uc010xel.1_Missense_Mutation_p.Q753K|KIAA1468_uc002lim.2_Missense_Mutation_p.Q397K	p.Q753K	NM_020854	NP_065905	Q9P260	K1468_HUMAN			16	2472	+		Colorectal(73;0.186)	753						Missense_Mutation	SNP	ENST00000398130.2	37	c.2257C>A	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068697	0.76301	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62696	0.2449	L	0.48642	1.525	0.80722	D	1	P;P;P	0.52170	0.856;0.951;0.874	P;P;B	0.50109	0.631;0.631;0.365	T	0.59026	-0.7531	8	.	.	.	-10.2271	19.8012	0.96507	0.0:1.0:0.0:0.0	.	753;753;397	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	K	753	.	.	Q	+	1	0	KIAA1468	58079778	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	7.818000	0.86416	2.676000	0.91093	0.585000	0.79938	CAG		0.433	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		10	36	1	0	3.86e-05	4.16e-05	10	36				
ZNF560	147741	broad.mit.edu	37	19	9579792	9579792	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:9579792C>A	ENST00000301480.4	-	9	814	c.601G>T	c.(601-603)Ggg>Tgg	p.G201W		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AACTGTATCCCATTTAATGTT	0.343																																						uc002mlp.1		NA																	0				skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(601-603)GGG>TGG		zinc finger protein 560							34.0	35.0	35.0					19																	9579792		2202	4297	6499	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9579792C>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.601G>T	19.37:g.9579792C>A	ENSP00000301480:p.Gly201Trp					ZNF560_uc010dwr.1_Missense_Mutation_p.G95W	p.G201W	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			9	811	-			201					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.601G>T	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	9.280	1.047960	0.19827	.	.	ENSG00000198028	ENST00000301480	T	0.06449	3.3	1.99	-0.358	0.12575	.	.	.	.	.	T	0.12135	0.0295	L	0.46157	1.445	0.09310	N	1	D	0.76494	0.999	D	0.64321	0.924	T	0.19582	-1.0301	9	0.48119	T	0.1	.	3.9821	0.09499	0.232:0.6166:0.0:0.1514	.	201	Q96MR9	ZN560_HUMAN	W	201	ENSP00000301480:G201W	ENSP00000301480:G201W	G	-	1	0	ZNF560	9440792	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.618000	0.05578	-0.024000	0.13941	-0.324000	0.08512	GGG		0.343	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		3	14	1	0	0.004672	0.0049513	3	14				
HOMER3	9454	broad.mit.edu	37	19	19043825	19043825	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:19043825G>A	ENST00000539827.1	-	5	1093	c.441C>T	c.(439-441)aaC>aaT	p.N147N	HOMER3_ENST00000355887.6_Silent_p.N147N|HOMER3_ENST00000221222.11_Silent_p.N147N|HOMER3_ENST00000433218.2_Silent_p.N147N|HOMER3_ENST00000542541.2_Silent_p.N147N|HOMER3_ENST00000392351.3_Silent_p.N147N|HOMER3_ENST00000594439.1_Silent_p.N111N|HOMER3_ENST00000594794.1_Intron|AC002985.3_ENST00000596918.1_Missense_Mutation_p.T42M			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	147					G-protein coupled glutamate receptor signaling pathway (GO:0007216)|protein targeting (GO:0006605)	basal part of cell (GO:0045178)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			CGCCGGGGCCGTTGGCACTGA	0.632																																						uc002nku.2		NA																	0					0						c.(439-441)AAC>AAT		Homer, neuronal immediate early gene, 3 isoform							43.0	51.0	48.0					19																	19043825		2203	4299	6502	SO:0001819	synonymous_variant	9454				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding	g.chr19:19043825G>A	Y18894	CCDS12391.1, CCDS46022.1, CCDS46023.1	19p13.1	2008-02-05				ENSG00000051128			17514	protein-coding gene	gene with protein product		604800				10653696, 9808459	Standard	NM_004838		Approved	HOMER-3	uc002nkv.2	Q9NSC5		ENST00000539827.1:c.441C>T	19.37:g.19043825G>A						HOMER3_uc002nko.1_RNA|HOMER3_uc002nkp.1_RNA|HOMER3_uc010eby.2_Silent_p.N111N|HOMER3_uc010ebz.2_Silent_p.N147N|HOMER3_uc002nkw.2_Silent_p.N147N|HOMER3_uc002nkv.2_Silent_p.N147N	p.N147N	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Epithelial(12;0.0107)		5	1094	-			147					E9PCW9|O14580|O95350|Q9NSB9|Q9NSC0|Q9NSC1	Silent	SNP	ENST00000539827.1	37	c.441C>T	CCDS12391.1																																																																																				0.632	HOMER3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464607.1			26	79	0	0	0	0	26	79				
ZNF99	7652	broad.mit.edu	37	19	22942355	22942355	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:22942355C>T	ENST00000596209.1	-	4	446	c.356G>A	c.(355-357)aGt>aAt	p.S119N	ZNF99_ENST00000397104.3_Missense_Mutation_p.S140N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTCATTGACACTTTCACAATC	0.328																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(418-420)AGT>AAT		zinc finger protein 99							107.0	102.0	104.0					19																	22942355		1857	4102	5959	SO:0001583	missense	7652							g.chr19:22942355C>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.356G>A	19.37:g.22942355C>T	ENSP00000472969:p.Ser119Asn						p.S140N	NM_001080409	NP_001073878					4	419	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.419G>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	1.451	-0.564965	0.03939	.	.	ENSG00000213973	ENST00000397104	T	0.06371	3.31	0.88	-0.379	0.12493	.	.	.	.	.	T	0.04092	0.0114	L	0.34521	1.04	0.09310	N	0.999998	B	0.21147	0.052	B	0.24848	0.056	T	0.47661	-0.9100	9	0.13470	T	0.59	.	2.2266	0.03986	0.0:0.3706:0.3418:0.2876	.	140	A8MXY4	ZNF99_HUMAN	N	140	ENSP00000380293:S140N	ENSP00000380293:S140N	S	-	2	0	ZNF99	22734195	0.000000	0.05858	0.055000	0.19348	0.053000	0.15095	-0.870000	0.04228	0.384000	0.24942	0.385000	0.25706	AGT		0.328	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		9	42	0	0	0	0	9	42				
PRODH2	58510	broad.mit.edu	37	19	36303355	36303355	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:36303355A>C	ENST00000301175.3	-	3	523	c.506T>G	c.(505-507)gTg>gGg	p.V169G		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	169					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGCCCTTCACCTCCTCTGC	0.647																																						uc002obx.1		NA																	0				ovary(2)	2						c.(505-507)GTG>GGG		kidney and liver proline oxidase 1							34.0	36.0	35.0					19																	36303355		2203	4300	6503	SO:0001583	missense	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36303355A>C	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.506T>G	19.37:g.36303355A>C	ENSP00000301175:p.Val169Gly						p.V169G	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	524	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		169						Missense_Mutation	SNP	ENST00000301175.3	37	c.506T>G	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440618	0.83993	.	.	ENSG00000250799	ENST00000301175	T	0.26373	1.74	5.57	5.57	0.84162	.	.	.	.	.	T	0.37433	0.1003	L	0.45352	1.415	0.80722	D	1	D	0.67145	0.996	P	0.56788	0.806	T	0.14839	-1.0458	9	0.87932	D	0	.	13.6868	0.62522	1.0:0.0:0.0:0.0	.	169	Q9UF12	PROD2_HUMAN	G	169	ENSP00000301175:V169G	ENSP00000301175:V169G	V	-	2	0	PRODH2	40995195	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.404000	0.79996	2.116000	0.64780	0.482000	0.46254	GTG		0.647	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		6	27	0	0	0	0	6	27				
PLA2G4C	8605	broad.mit.edu	37	19	48578033	48578033	+	Missense_Mutation	SNP	C	C	T	rs376850000		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:48578033C>T	ENST00000599921.1	-	12	1354	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.E333K|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.E333K|PLA2G4C_ENST00000596510.1_5'Flank|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.E343K			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	333	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCTTTCCTTTCGGGGTCCTCA	0.562																																						uc002phx.2		NA																	0				ovary(1)|skin(1)	2						c.(997-999)GAA>AAA		phospholipase A2, group IVC isoform 1 precursor		C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	237.0	192.0	207.0		997,997,1027	0.6	0.0	19		207	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PLA2G4C	NM_003706.2,NM_001159323.1,NM_001159322.1	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	333/542,333/528,343/552	48578033	1,13005	2203	4300	6503	SO:0001583	missense	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48578033C>T	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.997G>A	19.37:g.48578033C>T	ENSP00000469473:p.Glu333Lys					PLA2G4C_uc002phw.2_Missense_Mutation_p.E268K|PLA2G4C_uc010elr.2_Missense_Mutation_p.E333K|PLA2G4C_uc010xzd.1_Missense_Mutation_p.E343K	p.E333K	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	12	1395	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	333			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.997G>A	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	1.280	-0.610586	0.03690	0.0	1.16E-4	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04156	3.69;3.69	1.77	0.651	0.17817	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	1.386070	0.05506	U	0.559236	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B;B	0.19200	0.034;0.017	B;B	0.09377	0.004;0.002	T	0.45131	-0.9282	10	0.30854	T	0.27	-1.4857	4.3068	0.10951	0.0:0.7797:0.0:0.2203	.	343;333	B4DI40;Q9UP65	.;PA24C_HUMAN	K	333	ENSP00000346228:E333K;ENSP00000400036:E333K	ENSP00000346228:E333K	E	-	1	0	PLA2G4C	53269845	0.000000	0.05858	0.001000	0.08648	0.161000	0.22273	-0.678000	0.05209	0.279000	0.22186	0.205000	0.17691	GAA		0.562	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			39	125	0	0	0	0	39	125				
ZNF816	125893	broad.mit.edu	37	19	53453768	53453768	+	Silent	SNP	A	A	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:53453768A>T	ENST00000357666.4	-	5	1560	c.1260T>A	c.(1258-1260)acT>acA	p.T420T	ZNF816_ENST00000444460.2_Silent_p.T420T|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ATCCCTCTCCAGTATGAATCT	0.388																																						uc002qal.1		NA																	0					0						c.(1258-1260)ACT>ACA		zinc finger protein 816A							109.0	112.0	111.0					19																	53453768		2203	4300	6503	SO:0001819	synonymous_variant	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53453768A>T	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1260T>A	19.37:g.53453768A>T						ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Silent_p.T404T	p.T420T	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN		GBM - Glioblastoma multiforme(134;0.0313)	5	1561	-			420					A8K7H5|Q3KR39|Q659B3	Silent	SNP	ENST00000357666.4	37	c.1260T>A	CCDS33096.1																																																																																				0.388	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		50	38	0	0	0	0	50	38				
ZNF304	57343	broad.mit.edu	37	19	57865177	57865177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:57865177C>T	ENST00000282286.5	+	2	291	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	ZNF304_ENST00000443917.2_Missense_Mutation_p.R40C|ZNF304_ENST00000598744.1_5'UTR|ZNF304_ENST00000391705.3_Missense_Mutation_p.R40C|CTC-444N24.13_ENST00000597973.1_RNA			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ATTCCTGTACCGTGATGTGAT	0.453																																						uc010ygw.1		NA																	0				ovary(1)	1						c.(118-120)CGT>TGT		zinc finger protein 304							266.0	201.0	223.0					19																	57865177		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57865177C>T	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.118C>T	19.37:g.57865177C>T	ENSP00000282286:p.Arg40Cys					ZNF304_uc010etw.2_Missense_Mutation_p.R40C|ZNF304_uc010etx.2_5'UTR	p.R40C	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	2	506	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	40			KRAB.			Missense_Mutation	SNP	ENST00000282286.5	37	c.118C>T	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112269	0.56398	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.02812	4.15;4.15;4.15	3.49	0.478	0.16789	Krueppel-associated box (4);	.	.	.	.	T	0.03783	0.0107	M	0.66297	2.02	0.19775	N	0.999956	B;B	0.18461	0.015;0.028	B;B	0.15484	0.009;0.013	T	0.40327	-0.9569	9	0.62326	D	0.03	.	2.7867	0.05376	0.2053:0.472:0.0:0.3227	.	40;40	Q9HCX3;E7EQD3	ZN304_HUMAN;.	C	40	ENSP00000282286:R40C;ENSP00000375586:R40C;ENSP00000401642:R40C	ENSP00000282286:R40C	R	+	1	0	ZNF304	62556989	0.002000	0.14202	0.455000	0.27031	0.996000	0.88848	-0.354000	0.07681	0.194000	0.20326	0.557000	0.71058	CGT		0.453	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			10	65	0	0	0	0	10	65				
GALNT14	79623	broad.mit.edu	37	2	31155016	31155016	+	Missense_Mutation	SNP	C	C	T	rs139793019	byFrequency	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:31155016C>T	ENST00000349752.5	-	10	1615	c.976G>A	c.(976-978)Gtc>Atc	p.V326I	GALNT14_ENST00000406653.1_Missense_Mutation_p.V306I|GALNT14_ENST00000356174.3_Missense_Mutation_p.V293I|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Missense_Mutation_p.V291I|GALNT14_ENST00000324589.5_Missense_Mutation_p.V331I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	326	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.V326I(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTGCAGGGGACGATCTCTAGG	0.557													C|||	4	0.000798722	0.0	0.0014	5008	,	,		17844	0.0		0.003	False		,,,				2504	0.0					uc002rnr.2		NA																	1	Substitution - Missense(1)	p.V326I(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(2)|skin(1)	3						c.(976-978)GTC>ATC		N-acetylgalactosaminyltransferase 14		C	ILE/VAL	5,4401	9.9+/-24.2	0,5,2198	97.0	91.0	93.0		976	-4.1	0.7	2	dbSNP_134	93	29,8571	19.8+/-62.0	0,29,4271	yes	missense	GALNT14	NM_024572.2	29	0,34,6469	TT,TC,CC		0.3372,0.1135,0.2614	benign	326/553	31155016	34,12972	2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31155016C>T	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.976G>A	2.37:g.31155016C>T	ENSP00000288988:p.Val326Ile					GALNT14_uc002rnq.2_Missense_Mutation_p.V306I|GALNT14_uc002rns.2_Missense_Mutation_p.V331I|GALNT14_uc010ymr.1_Missense_Mutation_p.V291I|GALNT14_uc010ezo.1_Missense_Mutation_p.V293I|GALNT14_uc010ezp.1_3'UTR	p.V326I	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN			10	1595	-	Acute lymphoblastic leukemia(172;0.155)		326			Lumenal (Potential).|Catalytic subdomain B.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.976G>A	CCDS1773.2	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	6.689	0.495812	0.12762	0.001135	0.003372	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27	4.98	-4.07	0.03975	.	0.400442	0.25839	N	0.027967	T	0.23014	0.0556	N	0.04787	-0.16	0.28556	N	0.911398	B;B;B;B;B	0.15141	0.005;0.001;0.003;0.012;0.001	B;B;B;B;B	0.12156	0.005;0.001;0.003;0.007;0.003	T	0.39722	-0.9600	10	0.02654	T	1	.	8.0264	0.30440	0.0:0.3562:0.1129:0.531	.	291;293;331;326;306	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	I	326;331;306;293;291;293	ENSP00000288988:V326I;ENSP00000314500:V331I;ENSP00000385435:V306I;ENSP00000348497:V293I;ENSP00000415514:V291I;ENSP00000406399:V293I	ENSP00000314500:V331I	V	-	1	0	GALNT14	31008520	0.992000	0.36948	0.673000	0.29887	0.982000	0.71751	0.571000	0.23669	-0.305000	0.08831	-0.291000	0.09656	GTC		0.557	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		9	49	0	0	0	0	9	49				
NRXN1	9378	broad.mit.edu	37	2	50280513	50280513	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:50280513C>T	ENST00000406316.2	-	20	5410	c.3934G>A	c.(3934-3936)Gcc>Acc	p.A1312T	NRXN1_ENST00000401669.2_Missense_Mutation_p.A1342T|NRXN1_ENST00000342183.5_Missense_Mutation_p.A277T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1334T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1312T|NRXN1_ENST00000401710.1_Missense_Mutation_p.A330T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1334T|NRXN1_ENST00000404971.1_Missense_Mutation_p.A1382T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1312					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GATTGCATGGCAGTGGCTGTT	0.498																																						uc010fbp.2		NA																	0				ovary(2)	2						c.(829-831)GCC>ACC		neurexin 1 isoform beta precursor							154.0	135.0	141.0					2																	50280513		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50280513C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3934G>A	2.37:g.50280513C>T	ENSP00000384311:p.Ala1312Thr					NRXN1_uc002rxb.3_Missense_Mutation_p.A1014T|NRXN1_uc010fbq.2_Missense_Mutation_p.A1382T|NRXN1_uc002rxe.3_Missense_Mutation_p.A1312T	p.A277T	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		4	1636	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	277			Extracellular (Potential).		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.829G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149241	0.37923	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.70164	1.03;2.2;0.25;0.16;-0.46;-0.35;-0.06;0.03	5.65	5.65	0.86999	.	0.112517	0.33875	U	0.004464	T	0.54549	0.1865	N	0.24115	0.695	0.45806	D	0.998686	B;B;B;B	0.24317	0.02;0.101;0.003;0.002	B;B;B;B	0.22753	0.012;0.041;0.006;0.004	T	0.49661	-0.8916	10	0.15499	T	0.54	.	19.7195	0.96136	0.0:1.0:0.0:0.0	.	1382;277;1312;1334	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	T	277;231;330;1382;1312;1334;1342;1383;1334;1312	ENSP00000341184:A277T;ENSP00000385580:A330T;ENSP00000385142:A1382T;ENSP00000384311:A1312T;ENSP00000434015:A1334T;ENSP00000385017:A1342T;ENSP00000385434:A1334T;ENSP00000385681:A1312T	ENSP00000341184:A277T	A	-	1	0	NRXN1	50134017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.968000	0.70413	2.663000	0.90544	0.655000	0.94253	GCC		0.498	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			17	72	0	0	0	0	17	72				
CNGA3	1261	broad.mit.edu	37	2	99013496	99013496	+	Silent	SNP	G	G	A	rs181911949	byFrequency	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:99013496G>A	ENST00000272602.2	+	7	1902	c.1863G>A	c.(1861-1863)gcG>gcA	p.A621A	CNGA3_ENST00000409937.1_Silent_p.A625A|CNGA3_ENST00000393504.1_Silent_p.A621A|CNGA3_ENST00000436404.2_Silent_p.A603A			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	621					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGGCGGGCGCGGACCCCAAGG	0.622													G|||	3	0.000599042	0.0	0.0	5008	,	,		18387	0.001		0.002	False		,,,				2504	0.0					uc002syt.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(1861-1863)GCG>GCA		cyclic nucleotide gated channel alpha 3 isoform		G	,	0,4406		0,0,2203	32.0	31.0	32.0		1809,1863	-10.8	0.0	2		32	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	CNGA3	NM_001079878.1,NM_001298.2	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	603/677,621/695	99013496	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013496G>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1863G>A	2.37:g.99013496G>A						CNGA3_uc002syu.2_Silent_p.A603A|CNGA3_uc010fij.2_Silent_p.A625A	p.A621A	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	2280	+			621					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.1863G>A	CCDS2034.1																																																																																				0.622	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		31	19	0	0	0	0	31	19				
SH3RF3	344558	broad.mit.edu	37	2	109964267	109964267	+	Silent	SNP	C	C	T	rs372876669		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:109964267C>T	ENST00000309415.6	+	2	711	c.711C>T	c.(709-711)caC>caT	p.H237H		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	237	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GCGAGCTGCACGGCACACAGG	0.587																																						uc010ywt.1		NA																	0				ovary(1)	1						c.(709-711)CAC>CAT		SH3 domain containing ring finger 3		C		2,4308		0,2,2153	57.0	65.0	62.0		711	-6.6	0.0	2		62	1,8503		0,1,4251	no	coding-synonymous	SH3RF3	NM_001099289.1		0,3,6404	TT,TC,CC		0.0118,0.0464,0.0234		237/883	109964267	3,12811	2155	4252	6407	SO:0001819	synonymous_variant	344558						zinc ion binding	g.chr2:109964267C>T	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.711C>T	2.37:g.109964267C>T							p.H237H	NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN			2	711	+			237			SH3 1.		A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37	c.711C>T																																																																																					0.587	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		6	20	0	0	0	0	6	20				
RBM43	375287	broad.mit.edu	37	2	152112091	152112091	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:152112091G>A	ENST00000331426.5	-	2	321	c.170C>T	c.(169-171)aCa>aTa	p.T57I		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	57	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		CTTGGTTCTTGTCGGATATAT	0.318																																						uc002txh.2		NA																	0					0						c.(169-171)ACA>ATA		RNA binding motif protein 43							142.0	145.0	144.0					2																	152112091		2203	4300	6503	SO:0001583	missense	375287						nucleotide binding|RNA binding	g.chr2:152112091G>A	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.170C>T	2.37:g.152112091G>A	ENSP00000331211:p.Thr57Ile						p.T57I	NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	2	318	-			57			RRM.		B2RMT5	Missense_Mutation	SNP	ENST00000331426.5	37	c.170C>T	CCDS2191.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669893	0.67814	.	.	ENSG00000184898	ENST00000331426	T	0.49720	0.77	4.44	4.44	0.53790	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.239675	0.32785	N	0.005653	T	0.56920	0.2018	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.60885	-0.7174	10	0.72032	D	0.01	-4.7132	14.3608	0.66771	0.0:0.0:1.0:0.0	.	57	Q6ZSC3	RBM43_HUMAN	I	57	ENSP00000331211:T57I	ENSP00000331211:T57I	T	-	2	0	RBM43	151820337	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	5.472000	0.66768	2.316000	0.78162	0.313000	0.20887	ACA		0.318	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557		45	63	0	0	0	0	45	63				
RNF25	64320	broad.mit.edu	37	2	219529928	219529928	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:219529928C>T	ENST00000295704.2	-	8	1056	c.616G>A	c.(616-618)Gtg>Atg	p.V206M		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	206					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATCATACACGAGGGGCTCT	0.498																																						uc002vit.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(616-618)GTG>ATG		ring finger protein 25							107.0	98.0	101.0					2																	219529928		2203	4300	6503	SO:0001583	missense	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219529928C>T		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.616G>A	2.37:g.219529928C>T	ENSP00000295704:p.Val206Met					RNF25_uc010fvw.2_Missense_Mutation_p.V94M	p.V206M	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	704	-		Renal(207;0.0474)	206					A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	c.616G>A	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506822	0.26949	.	.	ENSG00000163481	ENST00000295704	T	0.68903	-0.36	5.32	2.61	0.31194	.	0.206493	0.44483	D	0.000448	T	0.54062	0.1835	L	0.54323	1.7	0.21020	N	0.999802	P	0.40332	0.713	B	0.32090	0.14	T	0.47497	-0.9113	10	0.48119	T	0.1	-2.8142	9.2098	0.37311	0.0:0.7774:0.0:0.2226	.	206	Q96BH1	RNF25_HUMAN	M	206	ENSP00000295704:V206M	ENSP00000295704:V206M	V	-	1	0	RNF25	219238172	0.218000	0.23608	0.129000	0.21949	0.709000	0.40893	1.305000	0.33493	0.409000	0.25649	-0.424000	0.05967	GTG		0.498	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		6	20	0	0	0	0	6	20				
PTPRN	5798	broad.mit.edu	37	2	220164844	220164844	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:220164844G>A	ENST00000295718.2	-	9	1539	c.1299C>T	c.(1297-1299)ccC>ccT	p.P433P	PTPRN_ENST00000423636.2_Silent_p.P343P|PTPRN_ENST00000409251.3_Silent_p.P433P|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	433					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGGCAGCTTTGGGAGGCTCAG	0.652																																						uc002vkz.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1297-1299)CCC>CCT		protein tyrosine phosphatase, receptor type, N							69.0	79.0	76.0					2																	220164844		2203	4300	6503	SO:0001819	synonymous_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220164844G>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1299C>T	2.37:g.220164844G>A						PTPRN_uc010zlc.1_Silent_p.P343P|PTPRN_uc002vla.2_Silent_p.P433P	p.P433P	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	9	1388	-		Renal(207;0.0474)	433			Extracellular (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	c.1299C>T	CCDS2440.1																																																																																				0.652	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			31	52	0	0	0	0	31	52				
PAX1	5075	broad.mit.edu	37	20	21695343	21695343	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr20:21695343C>T	ENST00000398485.2	+	5	1561	c.1507C>T	c.(1507-1509)Cgc>Tgc	p.R503C	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	503					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCGGGGTGCACGCCCAGCCAG	0.682																																						uc002wsj.2		NA																	0				upper_aerodigestive_tract(1)|kidney(1)	2						c.(1507-1509)CGC>TGC		paired box 1							38.0	36.0	37.0					20																	21695343		2200	4299	6499	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21695343C>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1507C>T	20.37:g.21695343C>T	ENSP00000381499:p.Arg503Cys					PAX1_uc010zsl.1_3'UTR|PAX1_uc010zsm.1_3'UTR	p.R503C	NM_006192	NP_006183	P15863	PAX1_HUMAN			5	1561	+			503					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.1507C>T	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790906	0.31685	.	.	ENSG00000125813	ENST00000398485	D	0.97731	-4.51	3.04	3.04	0.35103	.	.	.	.	.	D	0.93514	0.7930	N	0.19112	0.55	0.28774	N	0.900217	D	0.58970	0.984	B	0.41299	0.353	D	0.89553	0.3801	9	0.87932	D	0	.	9.8479	0.41039	0.0:1.0:0.0:0.0	.	503	P15863	PAX1_HUMAN	C	503	ENSP00000381499:R503C	ENSP00000381499:R503C	R	+	1	0	PAX1	21643343	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.090000	0.11163	1.411000	0.46957	0.555000	0.69702	CGC		0.682	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			5	22	0	0	0	0	5	22				
SRMS	6725	broad.mit.edu	37	20	62178692	62178692	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr20:62178692G>A	ENST00000217188.1	-	1	165	c.125C>T	c.(124-126)cCc>cTc	p.P42L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	42	N-terminal.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGGGAGCGTGGGCACTGGGTC	0.697																																						uc002yfi.1		NA																	0				stomach(1)|lung(1)	2						c.(124-126)CCC>CTC		src-related kinase lacking C-terminal regulatory							114.0	118.0	116.0					20																	62178692		2171	4261	6432	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62178692G>A		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.125C>T	20.37:g.62178692G>A	ENSP00000217188:p.Pro42Leu						p.P42L	NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		1	166	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		42						Missense_Mutation	SNP	ENST00000217188.1	37	c.125C>T	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	G	5.743	0.321605	0.10845	.	.	ENSG00000125508	ENST00000217188	T	0.39787	1.06	3.62	-0.989	0.10242	.	0.304485	0.23560	N	0.046874	T	0.29976	0.0750	L	0.49778	1.585	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16247	-1.0409	10	0.52906	T	0.07	.	4.8825	0.13686	0.3543:0.1442:0.5016:0.0	.	42	Q9H3Y6	SRMS_HUMAN	L	42	ENSP00000217188:P42L	ENSP00000217188:P42L	P	-	2	0	SRMS	61649136	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.190000	0.09615	-0.458000	0.07023	0.436000	0.28706	CCC		0.697	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		72	259	0	0	0	0	72	259				
C2CD2	25966	broad.mit.edu	37	21	43327154	43327154	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr21:43327154G>A	ENST00000380486.3	-	10	1506	c.1265C>T	c.(1264-1266)gCt>gTt	p.A422V	C2CD2_ENST00000329623.7_Missense_Mutation_p.A267V	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	422						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GGTCTTCACAGCAGTGACAGT	0.582																																						uc002yzw.2		NA																	0				ovary(1)	1						c.(1264-1266)GCT>GTT		C2 calcium-dependent domain containing 2 isoform							95.0	81.0	85.0					21																	43327154		2203	4300	6503	SO:0001583	missense	25966					cytosol|extracellular region|nucleus		g.chr21:43327154G>A	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1265C>T	21.37:g.43327154G>A	ENSP00000369853:p.Ala422Val					C2CD2_uc002yzt.2_Missense_Mutation_p.A38V|C2CD2_uc002yzu.2_Missense_Mutation_p.A254V|C2CD2_uc002yzv.2_Missense_Mutation_p.A267V|C2CD2_uc002yzx.1_Missense_Mutation_p.A267V	p.A422V	NM_015500	NP_056315	Q9Y426	CU025_HUMAN			10	1507	-			422					Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	c.1265C>T	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127698	0.77549	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.27720	1.68;1.65	4.9	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	M	0.64997	1.995	0.53688	D	0.999972	D;D	0.69078	0.972;0.997	P;P	0.61874	0.647;0.895	T	0.52034	-0.8629	10	0.52906	T	0.07	-14.1707	15.1964	0.73092	0.0:0.1417:0.8583:0.0	.	267;422	Q6P6D1;Q9Y426	.;CU025_HUMAN	V	267;422	ENSP00000329302:A267V;ENSP00000369853:A422V	ENSP00000329302:A267V	A	-	2	0	C2CD2	42200223	1.000000	0.71417	0.871000	0.34182	0.284000	0.27059	7.254000	0.78329	1.164000	0.42652	0.655000	0.94253	GCT		0.582	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		15	27	0	0	0	0	15	27				
XKR3	150165	broad.mit.edu	37	22	17288926	17288926	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr22:17288926G>T	ENST00000331428.5	-	2	140	c.38C>A	c.(37-39)aCa>aAa	p.T13K		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AACTCCTCCTGTGCTTTCTTC	0.408																																						uc002zlv.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(37-39)ACA>AAA		X Kell blood group precursor-related family,							96.0	96.0	96.0					22																	17288926		1910	4137	6047	SO:0001583	missense	150165					integral to membrane|plasma membrane		g.chr22:17288926G>T	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.38C>A	22.37:g.17288926G>T	ENSP00000331704:p.Thr13Lys					XKR3_uc011agf.1_Missense_Mutation_p.T13K	p.T13K	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN			2	136	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	13					B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	c.38C>A	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	12.39	1.923366	0.33908	.	.	ENSG00000172967	ENST00000331428	T	0.60424	0.19	1.24	0.0365	0.14192	.	1.899210	0.04417	U	0.366965	T	0.30355	0.0762	N	0.08118	0	0.09310	N	1	P	0.51933	0.949	B	0.36845	0.234	T	0.30238	-0.9985	10	0.39692	T	0.17	.	3.3323	0.07089	0.5469:0.0:0.4531:0.0	.	13	Q5GH77	XKR3_HUMAN	K	13	ENSP00000331704:T13K	ENSP00000331704:T13K	T	-	2	0	XKR3	15668926	0.030000	0.19436	0.021000	0.16686	0.025000	0.11179	0.113000	0.15499	0.580000	0.29522	0.297000	0.19635	ACA		0.408	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		21	48	1	0	1.56e-14	1.77e-14	21	48				
SEC14L2	23541	broad.mit.edu	37	22	30803469	30803469	+	Silent	SNP	C	C	T	rs144595900		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr22:30803469C>T	ENST00000312932.9	+	5	560	c.300C>T	c.(298-300)taC>taT	p.Y100Y	SEC14L2_ENST00000459728.1_3'UTR|RP4-539M6.19_ENST00000439838.1_5'Flank|SEC14L2_ENST00000403484.1_Silent_p.Y26Y|SEC14L2_ENST00000402592.3_Intron|SEC14L2_ENST00000405717.3_Silent_p.Y100Y	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	100	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CAGTCTGGTACGACATAATTG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		19061	0.001		0.0	False		,,,				2504	0.0					uc003ahr.2		NA																	0					0						c.(298-300)TAC>TAT		SEC14-like 2 isoform 1	Vitamin E(DB00163)	C	,,	1,4405	2.1+/-5.4	0,1,2202	209.0	184.0	193.0		,300,300	-4.8	0.4	22	dbSNP_134	193	2,8598	2.2+/-6.3	0,2,4298	no	intron,coding-synonymous,coding-synonymous	SEC14L2	NM_001204204.1,NM_012429.3,NM_033382.2	,,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,,	,100/404,100/393	30803469	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	23541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding	g.chr22:30803469C>T	AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"""supernatant protein factor"""	607558	"""SEC14 (S. cerevisiae)-like 2"""	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.300C>T	22.37:g.30803469C>T						SEC14L2_uc003ahq.2_Silent_p.Y100Y|SEC14L2_uc011akx.1_Silent_p.Y46Y|SEC14L2_uc003ahs.2_Silent_p.Y26Y|SEC14L2_uc011aky.1_Intron|SEC14L2_uc003aht.2_5'Flank|SEC14L2_uc003ahu.3_5'Flank|SEC14L2_uc010gvv.2_5'Flank|SEC14L2_uc010gvw.1_5'Flank|MTP18_uc010gvx.1_5'Flank|MTP18_uc003ahv.1_5'Flank|MTP18_uc010gvy.1_5'Flank	p.Y100Y	NM_012429	NP_036561	O76054	S14L2_HUMAN			5	473	+			100			CRAL-TRIO.		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Silent	SNP	ENST00000312932.9	37	c.300C>T	CCDS13876.1																																																																																				0.557	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	NM_012429		40	82	0	0	0	0	40	82				
PLXNB2	23654	broad.mit.edu	37	22	50720458	50720458	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr22:50720458G>A	ENST00000449103.1	-	20	3310	c.3170C>T	c.(3169-3171)tCc>tTc	p.S1057F	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Missense_Mutation_p.S1057F			O15031	PLXB2_HUMAN	plexin B2	1057	IPT/TIG 3.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACAGCCGGGGACAGGAAGAC	0.647																																						uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3169-3171)TCC>TTC		plexin B2 precursor							50.0	57.0	55.0					22																	50720458		2121	4234	6355	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50720458G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3170C>T	22.37:g.50720458G>A	ENSP00000409171:p.Ser1057Phe					PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Missense_Mutation_p.S42F	p.S1057F	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	20	3276	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1057			IPT/TIG 3.|Extracellular (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.3170C>T	CCDS43035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.95|15.95	2.984180|2.984180	0.53827|0.53827	.|.	.|.	ENSG00000196576|ENSG00000196576	ENST00000427829|ENST00000449103;ENST00000359337	.|T;T	.|0.77877	.|-1.13;-1.13	4.63|4.63	4.63|4.63	0.57726|0.57726	.|Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.43260	.|D	.|0.000598	D|D	0.87900|0.87900	0.6294|0.6294	M|M	0.78456|0.78456	2.415|2.415	0.53688|0.53688	D|D	0.99997|0.99997	.|D	.|0.76494	.|0.999	.|D	.|0.74674	.|0.984	D|D	0.89033|0.89033	0.3443|0.3443	5|10	.|0.56958	.|D	.|0.05	.|.	17.6605|17.6605	0.88192|0.88192	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1057	.|O15031	.|PLXB2_HUMAN	S|F	75|1057	.|ENSP00000409171:S1057F;ENSP00000352288:S1057F	.|ENSP00000352288:S1057F	P|S	-|-	1|2	0|0	PLXNB2|PLXNB2	49062585|49062585	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.207000|0.207000	0.24258|0.24258	3.711000|3.711000	0.54868|0.54868	2.410000|2.410000	0.81850|0.81850	0.313000|0.313000	0.20887|0.20887	CCC|TCC		0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		7	21	0	0	0	0	7	21				
MAP4	4134	broad.mit.edu	37	3	47912432	47912432	+	Silent	SNP	C	C	T	rs146957827		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr3:47912432C>T	ENST00000360240.6	-	13	3248	c.2730G>A	c.(2728-2730)tcG>tcA	p.S910S	MAP4_ENST00000264724.11_Silent_p.S645S|MAP4_ENST00000395734.3_Silent_p.S910S|MAP4_ENST00000441748.2_Silent_p.S62S|MAP4_ENST00000426837.2_Silent_p.S2055S|MAP4_ENST00000383737.4_Silent_p.S638S|MAP4_ENST00000462206.1_5'Flank|MAP4_ENST00000420772.2_Silent_p.S641S	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	910					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGGGTTTGGCCGAGGTGGGCT	0.632																																						uc003csb.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2728-2730)TCG>TCA		microtubule-associated protein 4 isoform 1		C	,	0,4406		0,0,2203	64.0	71.0	69.0		2730,2730	-8.6	0.0	3	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MAP4	NM_001134364.1,NM_002375.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	910/1136,910/1153	47912432	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47912432C>T		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.2730G>A	3.37:g.47912432C>T						MAP4_uc003csc.3_Silent_p.S910S|MAP4_uc003crw.2_Silent_p.S42S|MAP4_uc003crx.2_Silent_p.S170S|MAP4_uc011bbe.1_Silent_p.S661S|MAP4_uc003cry.2_Silent_p.S645S|MAP4_uc003csa.3_Silent_p.S645S|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_Silent_p.S645S	p.S910S	NM_002375	NP_002366	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	13	3256	-			910					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	37	c.2730G>A	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	C	3.985	-0.005598	0.07773	0.0	1.16E-4	ENSG00000047849	ENST00000429422	.	.	.	5.13	-8.57	0.00900	.	.	.	.	.	T	0.15739	0.0379	.	.	.	0.20307	N	0.999915	.	.	.	.	.	.	T	0.18147	-1.0346	4	.	.	.	-0.0975	2.7113	0.05175	0.1788:0.2793:0.3778:0.1641	.	.	.	.	S	321	.	.	G	-	1	0	MAP4	47887436	0.000000	0.05858	0.000000	0.03702	0.559000	0.35586	-2.116000	0.01327	-1.925000	0.01063	-0.345000	0.07892	GGC		0.632	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		27	39	0	0	0	0	27	39				
CACNA1D	776	broad.mit.edu	37	3	53842756	53842756	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr3:53842756C>T	ENST00000350061.5	+	46	6341	c.5830C>T	c.(5830-5832)Ccc>Tcc	p.P1944S	CACNA1D_ENST00000288139.4_Missense_Mutation_p.P1964S|CACNA1D_ENST00000544977.1_Missense_Mutation_p.P323S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1920S	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1944					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.P1964S(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCCATCTTCCCCCATCGCAC	0.637																																						uc003dgv.3		NA																	1	Substitution - Missense(1)	p.P1964S(1)	upper_aerodigestive_tract(1)	ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(5830-5832)CCC>TCC		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						71.0	65.0	67.0					3																	53842756		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53842756C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5830C>T	3.37:g.53842756C>T	ENSP00000288133:p.Pro1944Ser					CACNA1D_uc003dgu.3_Missense_Mutation_p.P1964S|CACNA1D_uc003dgy.3_Missense_Mutation_p.P1920S|CACNA1D_uc003dgw.3_Missense_Mutation_p.P1611S|CACNA1D_uc011bes.1_RNA	p.P1944S	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	46	5993	+			1944			Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.5830C>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756454	0.49362	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.63	5.63	0.86233	.	0.411664	0.22643	N	0.057426	T	0.32194	0.0821	N	0.04508	-0.205	0.34113	D	0.663223	P;B;B;P	0.42078	0.77;0.015;0.002;0.73	B;B;B;B	0.42771	0.357;0.028;0.007;0.397	T	0.28808	-1.0032	10	0.15499	T	0.54	.	20.0531	0.97636	0.0:1.0:0.0:0.0	.	1920;1637;1944;1964	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	S	1944;1964;1920;1637;323	ENSP00000288133:P1944S;ENSP00000288139:P1964S;ENSP00000409174:P1920S;ENSP00000418014:P1637S;ENSP00000440956:P323S	ENSP00000288139:P1964S	P	+	1	0	CACNA1D	53817796	0.998000	0.40836	0.915000	0.36163	0.673000	0.39480	4.482000	0.60257	2.825000	0.97269	0.655000	0.94253	CCC		0.637	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		15	31	0	0	0	0	15	31				
POLQ	10721	broad.mit.edu	37	3	121207697	121207697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr3:121207697G>A	ENST00000264233.5	-	16	4209	c.4081C>T	c.(4081-4083)Cag>Tag	p.Q1361*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1361					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.Q1496*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATTGAGTTCTGTTGGACTAAG	0.438								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	1	Substitution - Nonsense(1)	p.Q1496*(1)	upper_aerodigestive_tract(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(4081-4083)CAG>TAG	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							200.0	179.0	186.0					3																	121207697		2203	4300	6503	SO:0001587	stop_gained	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207697G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4081C>T	3.37:g.121207697G>A	ENSP00000264233:p.Gln1361*					POLQ_uc003eed.2_Nonsense_Mutation_p.Q533*	p.Q1361*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	4210	-			1361					O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000264233.5	37	c.4081C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	40	8.286300	0.98742	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	5.64	1.42	0.22433	.	1.512350	0.03314	N	0.190883	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	1.3609	0.02191	0.1652:0.1478:0.3828:0.3042	.	.	.	.	X	984;1361;1497	.	ENSP00000264233:Q1361X	Q	-	1	0	POLQ	122690387	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	1.030000	0.30153	0.264000	0.21851	0.655000	0.94253	CAG		0.438	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		25	153	0	0	0	0	25	153				
PPP2R3A	5523	broad.mit.edu	37	3	135722254	135722254	+	Silent	SNP	A	A	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr3:135722254A>T	ENST00000264977.3	+	2	2531	c.1914A>T	c.(1912-1914)tcA>tcT	p.S638S	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	638					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCAATTTATCAGTCTGTAGAA	0.413																																						uc003eqv.1		NA																	0				ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						c.(1912-1914)TCA>TCT		protein phosphatase 2, regulatory subunit B'',							83.0	78.0	80.0					3																	135722254		2201	4300	6501	SO:0001819	synonymous_variant	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135722254A>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1914A>T	3.37:g.135722254A>T						PPP2R3A_uc011blz.1_Intron	p.S638S	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			2	2479	+			638					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Silent	SNP	ENST00000264977.3	37	c.1914A>T	CCDS3087.1																																																																																				0.413	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		21	72	0	0	0	0	21	72				
TRIO	7204	broad.mit.edu	37	5	14378176	14378176	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr5:14378176G>A	ENST00000344204.4	+	20	3411	c.3387G>A	c.(3385-3387)atG>atA	p.M1129I	TRIO_ENST00000537187.1_Missense_Mutation_p.M1129I|TRIO_ENST00000509967.2_Missense_Mutation_p.M1080I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1129					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M1129I(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACTGGACCATGAGGAAGAGAC	0.493																																						uc003jff.2		NA																	1	Substitution - Missense(1)	p.M1129I(1)	upper_aerodigestive_tract(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(3385-3387)ATG>ATA		triple functional domain (PTPRF interacting)							107.0	92.0	97.0					5																	14378176		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14378176G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3387G>A	5.37:g.14378176G>A	ENSP00000339299:p.Met1129Ile					TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.M1080I|TRIO_uc003jfh.1_Missense_Mutation_p.M778I	p.M1129I	NM_007118	NP_009049	O75962	TRIO_HUMAN			20	3393	+	Lung NSC(4;0.000742)		1129			Spectrin 4.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.3387G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901986	0.72754	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.41065	1.01;1.01;1.01	5.81	5.81	0.92471	.	0.038459	0.85682	D	0.000000	T	0.34861	0.0912	N	0.21448	0.665	0.58432	D	0.999999	B;B;B	0.24483	0.024;0.061;0.104	B;B;B	0.21917	0.037;0.026;0.014	T	0.06552	-1.0820	10	0.42905	T	0.14	.	20.0912	0.97820	0.0:0.0:1.0:0.0	.	1080;1129;1129	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	I	1129;1129;1080;816	ENSP00000339299:M1129I;ENSP00000446348:M1129I;ENSP00000445592:M1080I	ENSP00000339299:M1129I	M	+	3	0	TRIO	14431176	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.018000	0.88722	2.746000	0.94184	0.591000	0.81541	ATG		0.493	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		4	8	0	0	0	0	4	8				
TULP1	7287	broad.mit.edu	37	6	35479474	35479474	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:35479474G>A	ENST00000229771.6	-	4	379	c.300C>T	c.(298-300)cgC>cgT	p.R100R	TULP1_ENST00000322263.4_Intron	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	100					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CCCGGGGGTCGCGCTTCTTGG	0.726																																					GBM(55;1027 1091 11115 23439)	uc003okv.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(298-300)CGC>CGT		tubby like protein 1							11.0	13.0	12.0					6																	35479474		2193	4291	6484	SO:0001819	synonymous_variant	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35479474G>A	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.300C>T	6.37:g.35479474G>A						TULP1_uc003okw.3_Intron	p.R100R	NM_003322	NP_003313	O00294	TULP1_HUMAN			4	312	-			100					O43536|Q5TGM5|Q8N571	Silent	SNP	ENST00000229771.6	37	c.300C>T	CCDS4807.1																																																																																				0.726	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			4	7	0	0	0	0	4	7				
STK38	11329	broad.mit.edu	37	6	36485513	36485513	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:36485513G>C	ENST00000229812.7	-	6	780	c.495C>G	c.(493-495)atC>atG	p.I165M		NM_007271.2	NP_009202.1			serine/threonine kinase 38									p.I165M(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAACTCCATGATTAGGTAGA	0.423																																					Colon(180;997 3561 16158)	uc003omg.2		NA																	1	Substitution - Missense(1)	p.I165M(1)	upper_aerodigestive_tract(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(493-495)ATC>ATG		serine/threonine kinase 38							113.0	104.0	107.0					6																	36485513		2203	4300	6503	SO:0001583	missense	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36485513G>C		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.495C>G	6.37:g.36485513G>C	ENSP00000229812:p.Ile165Met					STK38_uc003omh.2_Missense_Mutation_p.I165M|STK38_uc003omi.2_Missense_Mutation_p.I165M	p.I165M	NM_007271	NP_009202	Q15208	STK38_HUMAN			5	1083	-			165			Protein kinase.			Missense_Mutation	SNP	ENST00000229812.7	37	c.495C>G	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.408946	0.62399	.	.	ENSG00000112079	ENST00000229812	T	0.44083	0.93	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	M	0.63843	1.955	0.80722	D	1	D	0.54397	0.966	D	0.64506	0.926	T	0.54510	-0.8283	10	0.87932	D	0	.	14.3642	0.66795	0.0703:0.0:0.9297:0.0	.	165	Q15208	STK38_HUMAN	M	165	ENSP00000229812:I165M	ENSP00000229812:I165M	I	-	3	3	STK38	36593491	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.277000	0.43417	2.776000	0.95493	0.655000	0.94253	ATC		0.423	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		21	56	0	0	0	0	21	56				
SLC22A16	85413	broad.mit.edu	37	6	110777895	110777895	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:110777895C>T	ENST00000368919.3	-	2	445	c.379G>A	c.(379-381)Gat>Aat	p.D127N	SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000330550.4_Missense_Mutation_p.D93N|SLC22A16_ENST00000439654.1_Missense_Mutation_p.D127N|SLC22A16_ENST00000456137.2_Missense_Mutation_p.D127N	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	127					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	ATGTAGCCATCCACACAAGGA	0.488																																						uc003puf.2		NA																	0				ovary(1)	1						c.(379-381)GAT>AAT		solute carrier family 22, member 16							186.0	170.0	175.0					6																	110777895		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110777895C>T		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.379G>A	6.37:g.110777895C>T	ENSP00000357915:p.Asp127Asn					SLC22A16_uc003pue.2_Missense_Mutation_p.D108N|SLC22A16_uc003pug.2_Missense_Mutation_p.D127N	p.D127N	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	2	446	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	127					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.379G>A	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143384	0.57044	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000437378;ENST00000456137;ENST00000424139	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	4.69	4.69	0.59074	Major facilitator superfamily domain (1);	0.362743	0.29159	N	0.012963	T	0.70072	0.3182	L	0.48935	1.535	0.32889	D	0.511581	P;P	0.40931	0.733;0.687	B;B	0.42112	0.376;0.259	T	0.71663	-0.4525	10	0.40728	T	0.16	.	11.1809	0.48627	0.0:0.9151:0.0:0.0849	.	127;93	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	N	127;44;93;127;84;127;84	ENSP00000357915:D127N;ENSP00000395642:D44N;ENSP00000328583:D93N;ENSP00000408799:D127N;ENSP00000416310:D84N;ENSP00000402111:D127N;ENSP00000401007:D84N	ENSP00000328583:D93N	D	-	1	0	SLC22A16	110884588	0.883000	0.30277	0.014000	0.15608	0.773000	0.43773	1.756000	0.38390	2.133000	0.65898	0.563000	0.77884	GAT		0.488	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		55	77	0	0	0	0	55	77				
ETV1	2115	broad.mit.edu	37	7	13935629	13935629	+	Silent	SNP	T	T	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr7:13935629T>C	ENST00000430479.1	-	14	1963	c.1296A>G	c.(1294-1296)ccA>ccG	p.P432P	ETV1_ENST00000405358.4_Silent_p.P446P|ETV1_ENST00000403527.1_Silent_p.P392P|ETV1_ENST00000399357.3_Silent_p.P329P|ETV1_ENST00000405192.2_Silent_p.P409P|ETV1_ENST00000343495.5_Silent_p.P414P|ETV1_ENST00000420159.2_Silent_p.P374P|ETV1_ENST00000405218.2_Silent_p.P432P|ETV1_ENST00000242066.5_Silent_p.P414P|ETV1_ENST00000403685.1_Silent_p.P414P	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	432					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCTTCAGCAGTGGACGCTGAT	0.498			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	uc011jxq.1		NA		Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3		Ewing sarcoma|prostate	TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	0				prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						c.(1294-1296)CCA>CCG		ets variant gene 1 isoform a							88.0	83.0	85.0					7																	13935629		2103	4257	6360	SO:0001819	synonymous_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13935629T>C		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.1296A>G	7.37:g.13935629T>C						ETV1_uc011jxn.1_Silent_p.P392P|ETV1_uc011jxo.1_Silent_p.P329P|ETV1_uc011jxp.1_Silent_p.P374P|ETV1_uc003ssw.3_Silent_p.P409P|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Silent_p.P414P|ETV1_uc011jxs.1_Silent_p.P414P	p.P432P	NM_004956	NP_004947	P50549	ETV1_HUMAN			14	2035	-			432					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Silent	SNP	ENST00000430479.1	37	c.1296A>G	CCDS55088.1																																																																																				0.498	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		11	17	0	0	0	0	11	17				
SLC4A2	6522	broad.mit.edu	37	7	150772826	150772826	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr7:150772826G>A	ENST00000485713.1	+	21	4475	c.3435G>A	c.(3433-3435)ccG>ccA	p.P1145P	SLC4A2_ENST00000461735.1_Silent_p.P1131P|SLC4A2_ENST00000413384.2_Silent_p.P1145P|SLC4A2_ENST00000310317.5_Silent_p.P1063P|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000392826.2_Silent_p.P1136P	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1145	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTCATGCCGCCCAAACACC	0.582																																						uc003wit.3		NA																	0					0						c.(3433-3435)CCG>CCA		solute carrier family 4, anion exchanger, member							82.0	80.0	81.0					7																	150772826		2203	4300	6503	SO:0001819	synonymous_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150772826G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3435G>A	7.37:g.150772826G>A						SLC4A2_uc011kve.1_Silent_p.P1136P|SLC4A2_uc003wiu.3_Silent_p.P1131P|SLC4A2_uc003wiv.3_Silent_p.P339P|uc011kvf.1_Intron	p.P1145P	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	21	3691	+			1145			Membrane (anion exchange).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	c.3435G>A	CCDS5917.1																																																																																				0.582	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		14	41	0	0	0	0	14	41				
PDLIM2	64236	broad.mit.edu	37	8	22438929	22438929	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr8:22438929G>A	ENST00000397760.4	+	3	531	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	PDLIM2_ENST00000265810.4_Missense_Mutation_p.R44Q|PDLIM2_ENST00000409141.1_Missense_Mutation_p.R44Q|PDLIM2_ENST00000397761.2_Missense_Mutation_p.R44Q|PDLIM2_ENST00000339162.7_Missense_Mutation_p.R44Q|PDLIM2_ENST00000409417.1_Missense_Mutation_p.R44Q|PDLIM2_ENST00000308354.7_Missense_Mutation_p.R294Q			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	44	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GCTGACCTCCGGCCTGGAGAC	0.662																																						uc003xby.2		NA																	0					0						c.(130-132)CGG>CAG		PDZ and LIM domain 2 isoform 2							115.0	97.0	103.0					8																	22438929		2201	4299	6500	SO:0001583	missense	64236					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding	g.chr8:22438929G>A	AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.131G>A	8.37:g.22438929G>A	ENSP00000380867:p.Arg44Gln					PDLIM2_uc003xbx.1_Missense_Mutation_p.R44Q|PDLIM2_uc003xbz.2_Missense_Mutation_p.R44Q|PDLIM2_uc003xca.2_Missense_Mutation_p.R44Q|PDLIM2_uc003xcb.2_Missense_Mutation_p.R44Q|PDLIM2_uc003xcc.1_Missense_Mutation_p.R44Q	p.R44Q	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)	3	531	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	44			PDZ.		D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	ENST00000397760.4	37	c.131G>A		.	.	.	.	.	.	.	.	.	.	G	11.10	1.538909	0.27475	.	.	ENSG00000120913	ENST00000456545;ENST00000308354;ENST00000452226;ENST00000397760;ENST00000339162;ENST00000381194;ENST00000397761;ENST00000436754;ENST00000426493;ENST00000429812;ENST00000409141;ENST00000265810;ENST00000409417	T;T;T;T;T;T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76	4.99	3.16	0.36331	PDZ/DHR/GLGF (4);	0.163209	0.42420	D	0.000706	T	0.09992	0.0245	N	0.11818	0.18	0.32688	N	0.514533	P;P;B;P	0.48350	0.669;0.909;0.106;0.716	B;B;B;B	0.34536	0.116;0.182;0.024;0.185	T	0.16335	-1.0406	10	0.27785	T	0.31	-25.4939	7.4197	0.27065	0.0922:0.1716:0.7362:0.0	.	44;44;44;44	Q96JY6-3;Q96JY6-4;Q96JY6;C9JS55	.;.;PDLI2_HUMAN;.	Q	44;294;44;44;44;44;44;44;44;44;44;44;44	ENSP00000401992:R44Q;ENSP00000312634:R294Q;ENSP00000394376:R44Q;ENSP00000380867:R44Q;ENSP00000342035:R44Q;ENSP00000380868:R44Q;ENSP00000397738:R44Q;ENSP00000392920:R44Q;ENSP00000407643:R44Q;ENSP00000386868:R44Q;ENSP00000265810:R44Q;ENSP00000387084:R44Q	ENSP00000265810:R44Q	R	+	2	0	PDLIM2	22494874	1.000000	0.71417	0.999000	0.59377	0.265000	0.26407	3.442000	0.52900	1.071000	0.40834	-0.175000	0.13238	CGG		0.662	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334167.1			6	9	0	0	0	0	6	9				
PRKDC	5591	broad.mit.edu	37	8	48852134	48852134	+	Missense_Mutation	SNP	G	G	A	rs373460300		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr8:48852134G>A	ENST00000314191.2	-	11	1146	c.1090C>T	c.(1090-1092)Cgt>Tgt	p.R364C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R364C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	364					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCATATCCACGGATAGCAATA	0.338								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(1090-1092)CGT>TGT	NHEJ	protein kinase, DNA-activated, catalytic		G	CYS/ARG,CYS/ARG	0,3760		0,0,1880	119.0	115.0	116.0		1090,1090	5.7	1.0	8		116	1,8213		0,1,4106	no	missense,missense	PRKDC	NM_001081640.1,NM_006904.6	180,180	0,1,5986	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging,probably-damaging	364/4098,364/4129	48852134	1,11973	1880	4107	5987	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48852134G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.1090C>T	8.37:g.48852134G>A	ENSP00000313420:p.Arg364Cys					PRKDC_uc003xqj.2_Missense_Mutation_p.R364C|PRKDC_uc011ldh.1_Missense_Mutation_p.R364C	p.R364C	NM_006904	NP_008835	P78527	PRKDC_HUMAN			11	1147	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	364					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.1090C>T		.	.	.	.	.	.	.	.	.	.	G	22.6	4.308513	0.81247	0.0	1.22E-4	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.69685	-0.2;-0.42	5.73	5.73	0.89815	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83820	0.5337	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.85180	0.1003	9	0.87932	D	0	.	19.8869	0.96915	0.0:0.0:1.0:0.0	.	364;364;364	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	C	364	ENSP00000313420:R364C;ENSP00000345182:R364C	ENSP00000313420:R364C	R	-	1	0	PRKDC	49014687	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.837000	0.69381	2.693000	0.91896	0.655000	0.94253	CGT		0.338	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		28	87	0	0	0	0	28	87				
FOCAD	54914	broad.mit.edu	37	9	20944734	20944734	+	Silent	SNP	C	C	T	rs540425752		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:20944734C>T	ENST00000380249.1	+	31	3880	c.3516C>T	c.(3514-3516)caC>caT	p.H1172H	FOCAD_ENST00000605086.1_Silent_p.H608H|FOCAD_ENST00000338382.6_Silent_p.H1172H	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1172						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TGTCTGCGCACGTAGATGACA	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.0	False		,,,				2504	0.001					uc003zog.1		NA																	0				ovary(8)|breast(1)|kidney(1)	10						c.(3514-3516)CAC>CAT		hypothetical protein LOC54914							103.0	91.0	95.0					9																	20944734		2203	4300	6503	SO:0001819	synonymous_variant	54914					integral to membrane	binding	g.chr9:20944734C>T	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3516C>T	9.37:g.20944734C>T						KIAA1797_uc003zoh.1_Silent_p.H608H	p.H1172H	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	31	3879	+			1172					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	c.3516C>T	CCDS34993.1																																																																																				0.512	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		10	20	0	0	0	0	10	20				
FOXB2	442425	broad.mit.edu	37	9	79635500	79635500	+	Silent	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:79635500C>T	ENST00000376708.1	+	1	930	c.930C>T	c.(928-930)gtC>gtT	p.V310V		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	310					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						GCAACGTCGTCAGCTCCGTGT	0.721																																						uc004ako.1		NA																	0					0						c.(928-930)GTC>GTT		forkhead box B2							24.0	23.0	24.0					9																	79635500		2200	4298	6498	SO:0001819	synonymous_variant	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79635500C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.930C>T	9.37:g.79635500C>T							p.V310V	NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN			1	930	+			310						Silent	SNP	ENST00000376708.1	37	c.930C>T	CCDS35045.1																																																																																				0.721	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		6	9	0	0	0	0	6	9				
LRRC8A	56262	broad.mit.edu	37	9	131678563	131678563	+	Silent	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:131678563C>T	ENST00000259324.5	+	4	2869	c.2346C>T	c.(2344-2346)agC>agT	p.S782S	LRRC8A_ENST00000492784.1_3'UTR|LRRC8A_ENST00000372600.4_Silent_p.S782S|LRRC8A_ENST00000372599.3_Silent_p.S782S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	782					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TCAAGCGCAGCGGCTTGGTGG	0.682																																						uc004bwl.3		NA																	0					0						c.(2344-2346)AGC>AGT		leucine rich repeat containing 8 family, member							41.0	41.0	41.0					9																	131678563		2203	4300	6503	SO:0001819	synonymous_variant	56262				pre-B cell differentiation	integral to membrane		g.chr9:131678563C>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.2346C>T	9.37:g.131678563C>T						LRRC8A_uc010myp.2_Silent_p.S782S|LRRC8A_uc010myq.2_Silent_p.S782S	p.S782S	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN			4	2600	+			782					Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	c.2346C>T	CCDS35155.1																																																																																				0.682	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		6	12	0	0	0	0	6	12				
NOTCH1	4851	broad.mit.edu	37	9	139393696	139393696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:139393696G>A	ENST00000277541.6	-	32	6025	c.5950C>T	c.(5950-5952)Cga>Tga	p.R1984*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1984					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R1984*(1)|p.R1985*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCTGTGGCTCGGTTCCGGATC	0.652			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Nonsense(2)	p.R1984*(1)|p.R1985*(1)	upper_aerodigestive_tract(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(5950-5952)CGA>TGA		notch1 preproprotein							47.0	51.0	50.0					9																	139393696		2200	4300	6500	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139393696G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5950C>T	9.37:g.139393696G>A	ENSP00000277541:p.Arg1984*	HNSCC(8;0.001)					p.R1984*	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	32	5950	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1984			ANK 2.|Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.5950C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	46	12.684495	0.99688	.	.	ENSG00000148400	ENST00000277541	.	.	.	5.07	2.82	0.32997	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1197	0.53885	0.0:0.0:0.5865:0.4135	.	.	.	.	X	1984	.	ENSP00000277541:R1984X	R	-	1	2	NOTCH1	138513517	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	2.361000	0.44160	1.198000	0.43158	0.561000	0.74099	CGA		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		16	15	0	0	0	0	16	15				
RGAG4	340526	broad.mit.edu	37	X	71350464	71350464	+	Missense_Mutation	SNP	T	T	G	rs201288494		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chrX:71350464T>G	ENST00000545866.1	-	1	1294	c.927A>C	c.(925-927)agA>agC	p.R309S	RGAG4_ENST00000609883.1_Missense_Mutation_p.R309S|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	309										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CGCGCACTTTTCTTTCTATCT	0.483																																						uc010nlh.1		NA																	0				ovary(2)|skin(1)	3						c.(925-927)AGA>AGC		retrotransposon gag domain containing 4							113.0	107.0	109.0					X																	71350464		1917	4118	6035	SO:0001583	missense	340526							g.chrX:71350464T>G	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.927A>C	X.37:g.71350464T>G	ENSP00000441366:p.Arg309Ser					NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	p.R309S	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN			1	1288	-	Renal(35;0.156)		309					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.927A>C	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.897359	0.52121	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12255	2.7;2.7	4.13	-1.83	0.07833	.	.	.	.	.	T	0.09291	0.0229	N	0.08118	0	0.25505	N	0.987512	D	0.60160	0.987	P	0.51516	0.672	T	0.33904	-0.9850	8	.	.	.	-3.5105	8.3561	0.32331	0.0:0.5701:0.0:0.4299	.	309	Q5HYW3	RGAG4_HUMAN	S	309	ENSP00000441366:R309S;ENSP00000418667:R309S	.	R	-	3	2	RGAG4	71267189	0.997000	0.39634	0.784000	0.31847	0.911000	0.54048	-0.006000	0.12833	-0.446000	0.07149	0.486000	0.48141	AGA		0.483	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		40	74	0	0	0	0	40	74				
MYBPC3	4607	broad.mit.edu	37	11	47354867	47354867	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:47354867delG	ENST00000545968.1	-	30	3262	c.3208delC	c.(3208-3210)cagfs	p.Q1070fs	MYBPC3_ENST00000256993.4_Frame_Shift_Del_p.Q1069fs|MYBPC3_ENST00000399249.2_Frame_Shift_Del_p.Q1070fs	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1070	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CGGAGATCCTGGGGAGGACTT	0.637																																						uc001nfa.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3208-3210)CAGfs		myosin binding protein C, cardiac							25.0	28.0	27.0					11																	47354867		1949	4132	6081	SO:0001589	frameshift_variant	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47354867delG	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3208delC	11.37:g.47354867delG	ENSP00000442795:p.Gln1070fs						p.Q1070fs	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	29	3263	-			1069			Fibronectin type-III 3.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Frame_Shift_Del	DEL	ENST00000545968.1	37	c.3208delC	CCDS53621.1																																																																																				0.637	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			2	4	NA	NA	NA	NA	2	4	---	---	---	---
ARAP1	116985	broad.mit.edu	37	11	72412741	72412741	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:72412741delT	ENST00000393609.3	-	16	2457	c.2255delA	c.(2254-2256)aagfs	p.K752fs	ARAP1_ENST00000393605.3_Frame_Shift_Del_p.K512fs|ARAP1_ENST00000359373.5_Frame_Shift_Del_p.K752fs|ARAP1_ENST00000426523.1_Frame_Shift_Del_p.K507fs|ARAP1_ENST00000495878.1_5'Flank|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000455638.2_Frame_Shift_Del_p.K752fs|ARAP1_ENST00000334211.8_Frame_Shift_Del_p.K507fs|ARAP1_ENST00000429686.1_Frame_Shift_Del_p.K446fs	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	752	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGAGGCAGTCTTGTAGAGGAA	0.627																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2		NA																	0				skin(1)	1						c.(2254-2256)AAGfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH							147.0	155.0	152.0					11																	72412741		2200	4293	6493	SO:0001589	frameshift_variant	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72412741delT	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2255delA	11.37:g.72412741delT	ENSP00000377233:p.Lys752fs					ARAP1_uc001osv.2_Frame_Shift_Del_p.K752fs|ARAP1_uc001osr.2_Frame_Shift_Del_p.K512fs|ARAP1_uc001oss.2_Frame_Shift_Del_p.K507fs|ARAP1_uc009yth.2_Frame_Shift_Del_p.K446fs|ARAP1_uc010rre.1_Frame_Shift_Del_p.K507fs|ARAP1_uc001osw.1_Frame_Shift_Del_p.K40fs	p.K752fs	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			16	2444	-			752			PH 3.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Frame_Shift_Del	DEL	ENST00000393609.3	37	c.2255delA	CCDS41687.1																																																																																				0.627	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		279	195	NA	NA	NA	NA	279	195	---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103452874	103452875	+	In_Frame_Ins	INS	-	-	TCA			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr14:103452874_103452875insTCA	ENST00000361246.2	-	6	927_928	c.639_640insTGA	c.(637-642)catatc>catTGAatc	p.213_214HI>H*I		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCCAGGCGGATATGACCATTCA	0.376																																						uc001ymi.1		NA																	0				large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(637-642)insTGA		CDC42-binding protein kinase beta																																				SO:0001652	inframe_insertion	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103452874_103452875insTCA	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.639_640insTGA	14.37:g.103452874_103452875insTCA	ENSP00000355237:p.Ile214*						p.213_214ins*	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	6	871_872	-		Melanoma(154;0.155)	213_214			Protein kinase.			In_Frame_Ins	INS	ENST00000361246.2	37	c.639_640insTGA	CCDS9978.1																																																																																				0.376	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		87	74	NA	NA	NA	NA	87	74	---	---	---	---
HJURP	55355	broad.mit.edu	37	2	234750497	234750497	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:234750497delC	ENST00000411486.2	-	8	994	c.929delG	c.(928-930)tgcfs	p.C310fs	HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000432087.1_Frame_Shift_Del_p.C256fs|HJURP_ENST00000441687.1_Frame_Shift_Del_p.C225fs	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	310					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGCTCCTTTGCAATATGTTTT	0.468																																						uc002vvg.2		NA																	0				ovary(1)	1						c.(928-930)TGCfs		Holliday junction recognition protein							76.0	75.0	75.0					2																	234750497		2203	4300	6503	SO:0001589	frameshift_variant	55355				cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	g.chr2:234750497delC		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.929delG	2.37:g.234750497delC	ENSP00000414109:p.Cys310fs					HJURP_uc010znd.1_Frame_Shift_Del_p.C249fs|HJURP_uc010zne.1_Frame_Shift_Del_p.C218fs	p.C310fs	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)	8	995	-		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)	310					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Frame_Shift_Del	DEL	ENST00000411486.2	37	c.929delG	CCDS33406.1																																																																																				0.468	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		10	23	NA	NA	NA	NA	10	23	---	---	---	---
CLDN22	53842	broad.mit.edu	37	4	184241208	184241209	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr4:184241208_184241209delAC	ENST00000323319.5	-	1	718_719	c.163_164delGT	c.(163-165)gtcfs	p.V55fs	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	55					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CTCTTGGATGACACAGGTTTGC	0.465																																						uc010isa.1		NA																	0					0						c.(163-165)GTCfs		claudin 22																																				SO:0001589	frameshift_variant	53842				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr4:184241208_184241209delAC	AK098064	CCDS43286.1	4q35.1	2010-08-05			ENSG00000177300	ENSG00000177300		"""Claudins"""	2044	protein-coding gene	gene with protein product							Standard	NM_001111319		Approved	CLDN21	uc010isa.1	Q8N7P3	OTTHUMG00000160627	ENST00000323319.5:c.163_164delGT	4.37:g.184241210_184241211delAC	ENSP00000318113:p.Val55fs					WWC2_uc010irx.2_3'UTR|WWC2_uc003ivk.3_3'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_3'UTR|WWC2_uc003ivn.3_3'UTR|WWC2_uc010irz.2_3'UTR|WWC2_uc003ivo.3_3'UTR	p.V55fs	NM_001111319	NP_001104789	Q8N7P3	CLD22_HUMAN		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	1	719_720	-		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)	55			Extracellular (Potential).			Frame_Shift_Del	DEL	ENST00000323319.5	37	c.163_164delGT	CCDS43286.1																																																																																				0.465	CLDN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361493.1			23	37	NA	NA	NA	NA	23	37	---	---	---	---
HLA-B	3106	broad.mit.edu	37	6	31322969	31322970	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:31322969_31322970delCA	ENST00000412585.2	-	5	954_955	c.926_927delTG	c.(925-927)gtgfs	p.V309fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	309	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CAACAATGCCCACGATGGGGAC	0.589									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													uc003nth.2		NA																	0					0						c.(925-927)GTGfs		major histocompatibility complex, class I, B																																				SO:0001589	frameshift_variant	3106	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of	Familial Cancer Database	;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:31322969_31322970delCA	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.926_927delTG	6.37:g.31322969_31322970delCA	ENSP00000399168:p.Val309fs					HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Frame_Shift_Del_p.V188fs|HLA-B_uc003nti.1_Intron	p.V309fs	NM_005514	NP_005505	P01889	1B07_HUMAN			5	980_981	-			309			Extracellular (Potential).|Connecting peptide.		Q29764	Frame_Shift_Del	DEL	ENST00000412585.2	37	c.926_927delTG	CCDS34394.1																																																																																				0.589	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		20	32	NA	NA	NA	NA	20	32	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5353056	5353057	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr7:5353056_5353057insC	ENST00000430969.1	-	27	7813_7814	c.7465_7466insG	c.(7465-7467)gcgfs	p.A2489fs	TNRC18_ENST00000399537.4_Frame_Shift_Ins_p.A2489fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2489							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCAGCCCCCCGCCCCCGGATCC	0.688																																						uc003soi.3		NA																	0					0						c.(7465-7467)GCGfs		trinucleotide repeat containing 18																																				SO:0001589	frameshift_variant	84629						DNA binding	g.chr7:5353056_5353057insC	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7466dupG	7.37:g.5353061_5353061dupC	ENSP00000395538:p.Ala2489fs						p.A2489fs	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	7814_7815	-		Ovarian(82;0.142)	2489					A8MX41|Q96JH1|Q96K91	Frame_Shift_Ins	INS	ENST00000430969.1	37	c.7465_7466insG	CCDS47534.1																																																																																				0.688	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				5	9	NA	NA	NA	NA	5	9	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974755	21974758	+	Frame_Shift_Del	DEL	CCGA	CCGA	-	rs104894097		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:21974755_21974758delCCGA	ENST00000304494.5	-	1	339_342	c.69_72delTCGG	c.(67-72)ggtcggfs	p.GR23fs	CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.GR23fs|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.GR23fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.GR23fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	23			G -> D (in a pancreas tumor and a melanoma; loss of CDK4 binding).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.R24P(2)|p.0(1)|p.R24fs*20(1)|p.R22fs*14(1)|p.G23G(1)|p.R24Q(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTCCTCTACCCGACCCCGGGCCG	0.74		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1345	Whole gene deletion(1316)|Unknown(23)|Substitution - Missense(3)|Insertion - Frameshift(1)|Deletion - Frameshift(1)|Substitution - coding silent(1)	p.0?(1112)|p.?(23)|p.G23fs(2)|p.R24P(2)|p.R24Q(1)|p.R24fs*20(1)|p.R22fs*14(1)|p.G23G(1)|p.G23D(1)|p.G23fs*3(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(164)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(58)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(47)|ovary(35)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|large_intestine(7)|autonomic_ganglia(7)|liver(7)|meninges(7)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM950224	CDKN2A	M	rs104894097	c.(67-72)GGTCGGfs		cyclin-dependent kinase inhibitor 2A isoform 1																																				SO:0001589	frameshift_variant	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21974755_21974758delCCGA	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.69_72delTCGG	9.37:g.21974755_21974758delCCGA	ENSP00000307101:p.Gly23fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Del_p.G23fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	p.G23fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	281_284	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	23_24		R -> P (in CMM2).|R -> Q (found in a patient with multiple primary melanoma; partial loss of CDK4 binding).|R -> C (in CMM2).	ANK 1.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.69_72delTCGG	CCDS6510.1																																																																																				0.740	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		11	17	NA	NA	NA	NA	11	17	---	---	---	---
