#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LRRC41	10489	broad.mit.edu	37	1	46752046	46752046	+	Silent	SNP	G	G	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr1:46752046G>A	ENST00000343304.6	-	4	768	c.483C>T	c.(481-483)tcC>tcT	p.S161S	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	161					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGACATGGCGGGAGCTGTGCA	0.567																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(481-483)tcC>tcT		leucine rich repeat containing 41							64.0	66.0	65.0					1																	46752046		2203	4300	6503	SO:0001819	synonymous_variant	10489							g.chr1:46752046G>A	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.483C>T	1.37:g.46752046G>A						LRRC41_ENST00000472710.1_5'UTR	p.S161S	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			4	768	-	Acute lymphoblastic leukemia(166;0.155)		161					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP	ENST00000343304.6	37	c.483C>T	CCDS533.1																																																																																				0.567	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		3	45	0	0	0	1	0	3	45				
HCFC1	3054	broad.mit.edu	37	X	153222852	153222852	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chrX:153222852C>A	ENST00000310441.7	-	13	3232	c.2266G>T	c.(2266-2268)Gtc>Ttc	p.V756F	HCFC1_ENST00000354233.3_Missense_Mutation_p.V687F|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000369984.4_Missense_Mutation_p.V756F	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	756	Interaction with ZBTB17.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGGAGACGCTGCTGATG	0.652																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2266-2268)Gtc>Ttc		host cell factor C1 (VP16-accessory protein)							110.0	119.0	116.0					X																	153222852		2162	4221	6383	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153222852C>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2266G>T	X.37:g.153222852C>A	ENSP00000309555:p.Val756Phe					HCFC1_ENST00000369984.4_Missense_Mutation_p.V756F|HCFC1_ENST00000354233.3_Missense_Mutation_p.V687F	p.V756F	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			13	3232	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		756			Interaction with ZBTB17.		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.2266G>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294983	0.81025	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.04156	3.7;3.69;3.82	5.91	5.91	0.95273	.	0.259797	0.37809	N	0.001930	T	0.10809	0.0264	N	0.24115	0.695	0.49798	D	0.999827	D	0.64830	0.994	P	0.58520	0.84	T	0.04811	-1.0925	10	0.87932	D	0	.	17.8325	0.88687	0.0:1.0:0.0:0.0	.	756	P51610	HCFC1_HUMAN	F	756;756;687	ENSP00000309555:V756F;ENSP00000359001:V756F;ENSP00000346174:V687F	ENSP00000309555:V756F	V	-	1	0	HCFC1	152876046	0.998000	0.40836	0.946000	0.38457	0.831000	0.47069	3.617000	0.54181	2.485000	0.83878	0.600000	0.82982	GTC		0.652	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		97	204	1	0	3.17287e-45	1	3.47993e-45	97	204				
AVPR1A	552	broad.mit.edu	37	12	63543874	63543874	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr12:63543874C>T	ENST00000299178.2	-	1	848	c.743G>A	c.(742-744)cGc>cAc	p.R248H		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	248					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CGTCTTCCCGCGGACGTTGCA	0.622																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(742-744)cGc>cAc		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						87.0	89.0	88.0					12																	63543874		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543874C>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.743G>A	12.37:g.63543874C>T	ENSP00000299178:p.Arg248His						p.R248H	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	848	-			248						Missense_Mutation	SNP	ENST00000299178.2	37	c.743G>A	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692096	0.68271	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.42513	0.97;0.97	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.111107	0.64402	D	0.000010	T	0.56171	0.1967	L	0.54908	1.71	0.46901	D	0.99924	D	0.89917	1.0	D	0.73708	0.981	T	0.53781	-0.8390	9	.	.	.	-23.8908	11.0574	0.47927	0.0:0.9144:0.0:0.0856	.	248	P37288	V1AR_HUMAN	H	29;248	ENSP00000449822:R29H;ENSP00000299178:R248H	.	R	-	2	0	AVPR1A	61830141	0.614000	0.27017	0.988000	0.46212	0.969000	0.65631	1.056000	0.30480	2.464000	0.83262	0.455000	0.32223	CGC		0.622	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			79	140	0	0	0	1	0	79	140				
ACAN	176	broad.mit.edu	37	15	89400909	89400909	+	Missense_Mutation	SNP	G	G	A	rs375118386		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr15:89400909G>A	ENST00000561243.1	+	11	5093	c.5093G>A	c.(5092-5094)aGt>aAt	p.S1698N	ACAN_ENST00000439576.2_Missense_Mutation_p.S1698N|ACAN_ENST00000559004.1_Missense_Mutation_p.S1698N|ACAN_ENST00000352105.7_Missense_Mutation_p.S1698N			P16112	PGCA_HUMAN	aggrecan	1746	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGCCCTCCAGTGAGCTGGAC	0.537																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(5092-5094)aGt>aAt		aggrecan		G	ASN/SER,ASN/SER	1,3963		0,1,1981	160.0	158.0	158.0		5093,5093	-0.1	0.0	15		158	0,8350		0,0,4175	no	missense,missense	ACAN	NM_001135.3,NM_013227.3	46,46	0,1,6156	AA,AG,GG		0.0,0.0252,0.0081	probably-damaging,probably-damaging	1698/2432,1698/2531	89400909	1,12313	1982	4175	6157	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400909G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5093G>A	15.37:g.89400909G>A	ENSP00000453342:p.Ser1698Asn					ACAN_ENST00000352105.7_Missense_Mutation_p.S1698N|ACAN_ENST00000559004.1_Missense_Mutation_p.S1698N|ACAN_ENST00000561243.1_Missense_Mutation_p.S1698N	p.S1698N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5467	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1698					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.5093G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	9.171	1.021032	0.19433	2.52E-4	0.0	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02498	4.51;4.27	5.86	-0.0894	0.13669	.	0.440182	0.16857	N	0.196717	T	0.05686	0.0149	M	0.62723	1.935	0.09310	N	1	P;D	0.55605	0.94;0.972	P;P	0.52267	0.694;0.694	T	0.30179	-0.9987	10	0.34782	T	0.22	9.0094	5.9588	0.19289	0.3286:0.2442:0.4271:0.0	.	1698;1698	E7ENV9;E7EX88	.;.	N	1698;1698;1584	ENSP00000387356:S1698N;ENSP00000341615:S1698N	ENSP00000268134:S1584N	S	+	2	0	ACAN	87201913	0.002000	0.14202	0.001000	0.08648	0.033000	0.12548	0.597000	0.24059	-0.153000	0.11137	-0.136000	0.14681	AGT		0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		52	191	0	0	0	1	0	52	191				
TCN1	6947	broad.mit.edu	37	11	59630180	59630180	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr11:59630180G>A	ENST00000257264.3	-	3	379	c.275C>T	c.(274-276)tCg>tTg	p.S92L	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	92	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGCTCTCCCGAGCTTACATC	0.388																																						ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(274-276)tCg>tTg		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						101.0	96.0	98.0					11																	59630180		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59630180G>A	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.275C>T	11.37:g.59630180G>A	ENSP00000257264:p.Ser92Leu					TCN1_ENST00000532419.1_5'UTR	p.S92L	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			3	379	-		all_epithelial(135;0.198)	92					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.275C>T	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435072	0.43224	.	.	ENSG00000134827	ENST00000257264	T	0.41065	1.01	5.53	5.53	0.82687	.	0.000000	0.52532	D	0.000074	T	0.62841	0.2461	M	0.74881	2.28	0.28540	N	0.912144	D	0.89917	1.0	D	0.91635	0.999	T	0.58725	-0.7586	10	0.24483	T	0.36	.	14.9469	0.71039	0.0:0.0:1.0:0.0	.	92	P20061	TCO1_HUMAN	L	92	ENSP00000257264:S92L	ENSP00000257264:S92L	S	-	2	0	TCN1	59386756	0.851000	0.29673	0.193000	0.23327	0.046000	0.14306	2.758000	0.47565	2.584000	0.87258	0.650000	0.86243	TCG		0.388	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		33	59	0	0	0	1	0	33	59				
RREB1	6239	broad.mit.edu	37	6	7232039	7232039	+	Missense_Mutation	SNP	G	G	A	rs374868150		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr6:7232039G>A	ENST00000349384.6	+	10	4021	c.3707G>A	c.(3706-3708)cGg>cAg	p.R1236Q	RREB1_ENST00000334984.6_Missense_Mutation_p.R1236Q|RREB1_ENST00000379933.3_Missense_Mutation_p.R1236Q|RREB1_ENST00000379938.2_Missense_Mutation_p.R1236Q	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1236					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGGGCCAAGCGGAACTCGTAC	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16603	0.0		0.0	False		,,,				2504	0.0					ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3706-3708)cGg>cAg		ras responsive element binding protein 1		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	72.0	49.0	57.0		3707,3707,3707,3707	4.4	0.9	6		57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1236/1688,1236/1743,1236/1477,1236/1688	7232039	1,13005	2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7232039G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3707G>A	6.37:g.7232039G>A	ENSP00000305560:p.Arg1236Gln					RREB1_ENST00000334984.6_Missense_Mutation_p.R1236Q|RREB1_ENST00000349384.6_Missense_Mutation_p.R1236Q|RREB1_ENST00000379933.3_Missense_Mutation_p.R1236Q	p.R1236Q	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	4244	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1236					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.3707G>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155779	0.78114	0.0	1.16E-4	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.12465	2.68;2.86;2.68;2.74	5.33	4.44	0.53790	.	0.000000	0.56097	D	0.000036	T	0.15478	0.0373	L	0.59436	1.845	0.39849	D	0.973211	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.77557	0.905;0.805;0.99	T	0.08994	-1.0695	10	0.02654	T	1	-29.5291	15.7454	0.77936	0.0:0.137:0.863:0.0	.	1236;1236;1236	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	Q	1236	ENSP00000369265:R1236Q;ENSP00000369270:R1236Q;ENSP00000305560:R1236Q;ENSP00000335574:R1236Q	ENSP00000335574:R1236Q	R	+	2	0	RREB1	7177038	1.000000	0.71417	0.872000	0.34217	0.751000	0.42716	7.062000	0.76706	1.178000	0.42870	0.655000	0.94253	CGG		0.612	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			24	49	0	0	0	1	0	24	49				
ADAMTS9	56999	broad.mit.edu	37	3	64547306	64547306	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr3:64547306C>A	ENST00000498707.1	-	30	4988	c.4646G>T	c.(4645-4647)tGc>tTc	p.C1549F	ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9-AS1_ENST00000480831.1_RNA|ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C1521F|ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9-AS1_ENST00000601022.1_RNA|ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1549	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGGGCCTTGGCAGTCGCGTTC	0.577																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(4645-4647)tGc>tTc		ADAM metallopeptidase with thrombospondin type 1 motif, 9							172.0	157.0	162.0					3																	64547306		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64547306C>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4646G>T	3.37:g.64547306C>A	ENSP00000418735:p.Cys1549Phe					ADAMTS9-AS1_ENST00000480831.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C1521F	p.C1549F	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	30	4988	-		Lung NSC(201;0.00682)	1549			TSP type-1 12.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.4646G>T	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.366663|4.366663	0.82463|0.82463	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|D;D	.|0.81739	.|-1.53;-1.53	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94810|0.94810	0.8324|0.8324	H|H	0.99273|0.99273	4.495|4.495	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.998;1.0	D|D	0.96716|0.96716	0.9529|0.9529	5|10	.|0.87932	.|D	.|0	.|.	19.8437|19.8437	0.96701|0.96701	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1521;1549;1549	.|B7ZVX9;Q9P2N4-1;Q9P2N4	.|.;.;ATS9_HUMAN	S|F	605|1521;1549	.|ENSP00000295903:C1521F;ENSP00000418735:C1549F	.|ENSP00000295903:C1521F	A|C	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64522346|64522346	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	4.465000|4.465000	0.60141|0.60141	2.693000|2.693000	0.91896|0.91896	0.585000|0.585000	0.79938|0.79938	GCC|TGC		0.577	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			38	96	1	0	2.75727e-19	1	2.9296e-19	38	96				
CASC3	22794	broad.mit.edu	37	17	38324149	38324149	+	Silent	SNP	G	G	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr17:38324149G>A	ENST00000264645.7	+	10	1924	c.1698G>A	c.(1696-1698)ccG>ccA	p.P566P		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	566	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCCCTGCCCCGCTGCCTCCAC	0.502																																						ENST00000264645.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(1696-1698)ccG>ccA		cancer susceptibility candidate 3							160.0	142.0	148.0					17																	38324149		2203	4300	6503	SO:0001819	synonymous_variant	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38324149G>A	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1698G>A	17.37:g.38324149G>A							p.P566P	NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN			10	1924	+			566			Necessary for localization in cytoplasmic stress granules.		A8K8R0	Silent	SNP	ENST00000264645.7	37	c.1698G>A	CCDS11362.1																																																																																				0.502	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		80	130	0	0	0	1	0	80	130				
PLCG1	5335	broad.mit.edu	37	20	39798830	39798830	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr20:39798830A>T	ENST00000373271.1	+	24	3134	c.2729A>T	c.(2728-2730)gAt>gTt	p.D910V	PLCG1_ENST00000373272.2_Missense_Mutation_p.D910V|PLCG1_ENST00000244007.3_Missense_Mutation_p.D910V	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	910	PH 2; second part. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TGGTCCCTGGATGTTGCTGCC	0.592																																						ENST00000373272.2																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(2728-2730)gAt>gTt		phospholipase C, gamma 1							95.0	95.0	95.0					20																	39798830		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39798830A>T	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2729A>T	20.37:g.39798830A>T	ENSP00000362368:p.Asp910Val					PLCG1_ENST00000244007.3_Missense_Mutation_p.D910V|PLCG1_ENST00000373271.1_Missense_Mutation_p.D910V	p.D910V	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			24	3134	+		Myeloproliferative disorder(115;0.00878)	910			PH 2; second part.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.2729A>T	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.359649	0.82353	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.51817	0.69;0.69;0.69	5.16	5.16	0.70880	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.050787	0.85682	D	0.000000	T	0.55497	0.1924	L	0.55103	1.725	0.80722	D	1	P;D;P;P	0.53885	0.851;0.963;0.609;0.768	P;P;B;B	0.54060	0.623;0.741;0.235;0.418	T	0.52411	-0.8579	10	0.29301	T	0.29	.	14.9951	0.71425	1.0:0.0:0.0:0.0	.	910;486;910;910	P19174-2;B4DMA3;P19174;A2A284	.;.;PLCG1_HUMAN;.	V	910	ENSP00000244007:D910V;ENSP00000362368:D910V;ENSP00000362369:D910V	ENSP00000244007:D910V	D	+	2	0	PLCG1	39232244	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.125000	0.94402	1.964000	0.57103	0.383000	0.25322	GAT		0.592	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		4	155	0	0	0	1	0	4	155				
SATL1	340562	broad.mit.edu	37	X	84362660	84362660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chrX:84362660G>A	ENST00000395409.3	-	1	1314	c.754C>T	c.(754-756)Cga>Tga	p.R252*	SATL1_ENST00000332921.5_Nonsense_Mutation_p.R252*|SATL1_ENST00000509231.1_Nonsense_Mutation_p.R439*			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	252	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CACATGCCTCGTTGCCACATG	0.552																																						ENST00000509231.1																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(1315-1317)Cga>Tga		spermidine/spermine N1-acetyl transferase-like 1							246.0	182.0	204.0					X																	84362660		2203	4300	6503	SO:0001587	stop_gained	340562						N-acetyltransferase activity	g.chrX:84362660G>A	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.754C>T	X.37:g.84362660G>A	ENSP00000378804:p.Arg252*					SATL1_ENST00000395409.3_Nonsense_Mutation_p.R252*|SATL1_ENST00000332921.5_Nonsense_Mutation_p.R252*	p.R439*			Q86VE3	SATL1_HUMAN			1	1394	-			252			Acetyl-CoA binding (By similarity).|N-acetyltransferase.		A0AVK7|E9PB72|Q5H8V9	Nonsense_Mutation	SNP	ENST00000395409.3	37	c.1315C>T		.	.	.	.	.	.	.	.	.	.	g	37	6.515211	0.97629	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	.	.	.	2.26	-2.93	0.05598	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	1.4425	2.6562	0.05013	0.398:0.0:0.2417:0.3603	.	.	.	.	X	252;252;439	.	ENSP00000329115:R252X	R	-	1	2	SATL1	84249316	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.451000	0.06795	-0.882000	0.03987	0.115000	0.15696	CGA		0.552	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		9	220	0	0	0	1	0	9	220				
POM121L9P	29774	broad.mit.edu	37	22	24659809	24659809	+	RNA	SNP	G	G	A	rs376621154		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr22:24659809G>A	ENST00000414583.2	+	0	3334					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CCCTATCTGCGCACCCGGAGG	0.612																																						ENST00000414583.2																			0																																																			0							g.chr22:24659809G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659809G>A								NR_003714.1						0	3334	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.612	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	9	0	0	0	1	0	3	9				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000358097.4																			0				endometrium(1)	1																																														0							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA								0	449	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			5	48	0	0	0	1	0	5	48				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	17	0	0	0	1	0	3	17				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	29	1	0	1	1	1	3	29				
DNM1P47	100216544	broad.mit.edu	37	15	102304869	102304869	+	RNA	SNP	T	T	C	rs202067427		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr15:102304869T>C	ENST00000561463.1	+	0	12915									DNM1 pseudogene 47																		GTCCAACCTGTACTCGCGTGG	0.572																																						ENST00000561463.1																			0																																																			0							g.chr15:102304869T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304869T>C														0	12915	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.572	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	26	0	0	0	1	0	3	26				
FZR1	51343	broad.mit.edu	37	19	3527700	3527700	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr19:3527700C>T	ENST00000395095.3	+	6	542	c.542C>T	c.(541-543)gCg>gTg	p.A181V	FZR1_ENST00000313639.8_Intron|FZR1_ENST00000441788.2_Missense_Mutation_p.A181V	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	181					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCTGGACGCGCCCGAGCTG	0.637																																						ENST00000441788.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(541-543)gCg>gTg		fizzy/cell division cycle 20 related 1 (Drosophila)							112.0	89.0	97.0					19																	3527700		2200	4298	6498	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3527700C>T	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.542C>T	19.37:g.3527700C>T	ENSP00000378529:p.Ala181Val					FZR1_ENST00000395095.3_Missense_Mutation_p.A181V|FZR1_ENST00000313639.8_Intron	p.A181V	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	7	778	+			181					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.542C>T	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987937	0.93106	.	.	ENSG00000105325	ENST00000441788;ENST00000395095	T;T	0.11169	2.8;2.8	5.14	5.14	0.70334	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.45276	0.1334	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.85130	0.997;0.867	T	0.60203	-0.7309	10	0.87932	D	0	-47.5036	17.2027	0.86910	0.0:1.0:0.0:0.0	.	181;181	Q9UM11;Q9UM11-2	FZR_HUMAN;.	V	181	ENSP00000410369:A181V;ENSP00000378529:A181V	ENSP00000378529:A181V	A	+	2	0	FZR1	3478700	1.000000	0.71417	0.443000	0.26883	0.686000	0.39977	7.584000	0.82572	2.399000	0.81585	0.655000	0.94253	GCG		0.637	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		14	32	0	0	0	1	0	14	32				
MAGOHB	55110	broad.mit.edu	37	12	10763280	10763280	+	Splice_Site	SNP	C	C	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr12:10763280C>A	ENST00000320756.2	-	2	185		c.e2-1		MAGOHB_ENST00000381881.2_Splice_Site|MAGOHB_ENST00000539554.1_Splice_Site	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)						mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|large_intestine(2)	4						CTAAGCTTTCCTGTGGGAAGT	0.259																																						ENST00000320756.2																			0				breast(2)|large_intestine(2)	4						c.e2-1		mago-nashi homolog B (Drosophila)							68.0	57.0	61.0					12																	10763280		2203	4294	6497	SO:0001630	splice_region_variant	55110				mRNA processing|mRNA transport|RNA splicing	nucleus	RNA binding	g.chr12:10763280C>A		CCDS8628.1	12p13.2	2014-02-12	2008-01-24		ENSG00000111196	ENSG00000111196			25504	protein-coding gene	gene with protein product							Standard	NM_018048		Approved	FLJ10292, MGN2	uc001qyq.2	Q96A72	OTTHUMG00000168407	ENST00000320756.2:c.95-1G>T	12.37:g.10763280C>A						MAGOHB_ENST00000381881.2_Splice_Site|MAGOHB_ENST00000539554.1_Splice_Site		NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN			2	185	-									Splice_Site	SNP	ENST00000320756.2	37		CCDS8628.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.267106	0.59540	.	.	ENSG00000111196	ENST00000320756;ENST00000381881	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1646	0.72814	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAGOHB	10654547	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	6.545000	0.73883	2.696000	0.92011	0.591000	0.81541	.		0.259	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399616.1	NM_018048	Intron	3	26	1	0	1	1	1	3	26				
OR2Y1	134083	broad.mit.edu	37	5	180166535	180166535	+	Missense_Mutation	SNP	T	T	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr5:180166535T>A	ENST00000307832.2	-	1	564	c.524A>T	c.(523-525)cAc>cTc	p.H175L		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGAAGAAGTGATTCAGTCG	0.542																																						ENST00000307832.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(523-525)cAc>cTc		olfactory receptor, family 2, subfamily Y, member 1							65.0	57.0	60.0					5																	180166535		2203	4300	6503	SO:0001583	missense	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166535T>A	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.524A>T	5.37:g.180166535T>A	ENSP00000312403:p.His175Leu						p.H175L	NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	564	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	175					B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	c.524A>T	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	t	13.69	2.313066	0.40895	.	.	ENSG00000174339	ENST00000307832	T	0.00183	8.6	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.526148	0.17374	N	0.176549	T	0.00815	0.0027	H	0.94462	3.54	0.28687	N	0.904801	D	0.89917	1.0	D	0.91635	0.999	T	0.07271	-1.0781	10	0.87932	D	0	.	11.9052	0.52708	0.0:0.0:0.0:1.0	.	175	Q8NGV0	OR2Y1_HUMAN	L	175	ENSP00000312403:H175L	ENSP00000312403:H175L	H	-	2	0	OR2Y1	180099141	1.000000	0.71417	0.986000	0.45419	0.003000	0.03518	3.822000	0.55708	1.968000	0.57251	0.418000	0.28097	CAC		0.542	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		5	53	0	0	0	1	0	5	53				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	79	0	0	0	1	0	4	79				
SLC39A14	23516	broad.mit.edu	37	8	22273317	22273317	+	Silent	SNP	G	G	A	rs140196421		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr8:22273317G>A	ENST00000381237.1	+	6	905	c.786G>A	c.(784-786)tcG>tcA	p.S262S	SLC39A14_ENST00000289952.5_Silent_p.S262S|SLC39A14_ENST00000240095.6_Silent_p.S262S|SLC39A14_ENST00000359741.5_Silent_p.S262S	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	262					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CCTCTGAGTCGCTTCCCTCCA	0.552																																						ENST00000381237.1																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(784-786)tcG>tcA		solute carrier family 39 (zinc transporter), member 14		G	,,,	1,4405	2.1+/-5.4	0,1,2202	78.0	64.0	69.0		786,786,786,786	-11.3	0.0	8	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC39A14	NM_001128431.2,NM_001135153.1,NM_001135154.1,NM_015359.4	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	262/493,262/493,262/482,262/493	22273317	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22273317G>A	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.786G>A	8.37:g.22273317G>A						SLC39A14_ENST00000240095.6_Silent_p.S262S|SLC39A14_ENST00000359741.5_Silent_p.S262S|SLC39A14_ENST00000289952.5_Silent_p.S262S	p.S262S	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	6	905	+			262					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Silent	SNP	ENST00000381237.1	37	c.786G>A	CCDS47823.1																																																																																				0.552	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		7	73	0	0	0	1	0	7	73				
WASH3P	374666	broad.mit.edu	37	15	102515257	102515257	+	RNA	SNP	C	C	T	rs74969461	byFrequency	TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr15:102515257C>T	ENST00000557932.1	+	0	1103				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CTCCGGTGGCCGGGCCACTCT	0.647																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515257C>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515257C>T														0	1103	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	N	0.940	-0.709821	0.03230	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.058881	0.64402	N	0.000002	T	0.35508	0.0934	.	.	.	.	.	.	.	.	.	.	.	.	T	0.32719	-0.9896	4	.	.	.	-10.605	4.2952	0.10897	0.3925:0.6075:0.0:0.0	.	.	.	.	W	369;360	.	.	R	+	1	2	WASH3P	100332780	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	2.970000	0.49240	0.863000	0.35553	0.184000	0.17185	CGG		0.647	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		4	19	0	0	0	1	0	4	19				
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81443821	81443821	+	RNA	SNP	C	C	G	rs564183572		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr10:81443821C>G	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GCAGCACCATCGCCTCAGACC	0.612																																						ENST00000600376.1																			0																																																			0							g.chr10:81443821C>G																													10.37:g.81443821C>G						RP11-119F19.2_ENST00000596088.1_RNA								0	54	-									RNA	SNP	ENST00000600376.1	37																																																																																						0.612	RP11-119F19.2-004	KNOWN	basic	antisense	antisense	OTTHUMT00000461766.1			3	38	0	0	0	1	0	3	38				
IFNA21	3452	broad.mit.edu	37	9	21166376	21166376	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr9:21166376A>T	ENST00000380225.1	-	1	283	c.236T>A	c.(235-237)gTc>gAc	p.V79D		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	79					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTCATGGAGGACAGAGATGGC	0.478																																						ENST00000380225.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14						c.(235-237)gTc>gAc		interferon, alpha 21							107.0	107.0	107.0					9																	21166376		2203	4297	6500	SO:0001583	missense	3452				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21166376A>T		CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.236T>A	9.37:g.21166376A>T	ENSP00000369574:p.Val79Asp						p.V79D	NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	283	-			79					Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	ENST00000380225.1	37	c.236T>A	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	16.75	3.209090	0.58343	.	.	ENSG00000137080	ENST00000380225	T	0.05717	3.4	4.02	2.88	0.33553	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.514561	0.19597	N	0.110500	T	0.27629	0.0679	M	0.93854	3.465	0.18873	N	0.999987	D	0.57257	0.979	D	0.64595	0.927	T	0.11108	-1.0601	10	0.87932	D	0	.	7.1583	0.25649	0.8945:0.0:0.1055:0.0	.	79	P01568	IFN21_HUMAN	D	79	ENSP00000369574:V79D	ENSP00000369574:V79D	V	-	2	0	IFNA21	21156376	0.001000	0.12720	0.006000	0.13384	0.259000	0.26198	0.683000	0.25349	0.615000	0.30124	0.524000	0.50904	GTC		0.478	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		54	106	0	0	0	1	0	54	106				
DLK1	8788	broad.mit.edu	37	14	101200588	101200588	+	Silent	SNP	C	C	T	rs140697628		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr14:101200588C>T	ENST00000341267.4	+	5	749	c.507C>T	c.(505-507)atC>atT	p.I169I	DLK1_ENST00000331224.6_Silent_p.I169I	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	169					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TCTGCGAGATCGTGGCCAACA	0.667													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13824	0.0		0.0	False		,,,				2504	0.0					ENST00000341267.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29						c.(505-507)atC>atT		delta-like 1 homolog (Drosophila)		C		0,4406		0,0,2203	71.0	72.0	72.0		507	1.5	0.6	14	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DLK1	NM_003836.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		169/384	101200588	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101200588C>T	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.507C>T	14.37:g.101200588C>T						DLK1_ENST00000331224.6_Silent_p.I169I	p.I169I	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN			5	749	+		Melanoma(154;0.155)	169					P15803|Q96DW5	Silent	SNP	ENST00000341267.4	37	c.507C>T	CCDS9963.1																																																																																				0.667	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			5	157	0	0	0	1	0	5	157				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	87	0	0	0	1	0	5	87				
POM121L9P	29774	broad.mit.edu	37	22	24659813	24659813	+	RNA	SNP	C	C	T	rs368832816		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr22:24659813C>T	ENST00000414583.2	+	0	3338					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ATCTGCGCACCCGGAGGTGGG	0.607																																						ENST00000414583.2																			0																																																			0							g.chr22:24659813C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659813C>T								NR_003714.1						0	3338	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.607	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	5	0	0	0	1	0	3	5				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			22	52	0	0	0	1	0	22	52				
CRISPLD2	83716	broad.mit.edu	37	16	84872264	84872264	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr16:84872264G>A	ENST00000262424.5	+	2	387	c.163G>A	c.(163-165)Gac>Aac	p.D55N	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.D55N|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000569090.1_Missense_Mutation_p.D55N|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.D55N	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	55					extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CCCCAGGGAGGACAAGGAGGA	0.617																																						ENST00000262424.5																			0				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.(163-165)Gac>Aac		cysteine-rich secretory protein LCCL domain containing 2							74.0	68.0	70.0					16																	84872264		2199	4300	6499	SO:0001583	missense	83716					extracellular region|transport vesicle		g.chr16:84872264G>A	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.163G>A	16.37:g.84872264G>A	ENSP00000262424:p.Asp55Asn					CRISPLD2_ENST00000569090.1_Missense_Mutation_p.D55N|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.D55N|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.D55N|CRISPLD2_ENST00000566431.1_3'UTR	p.D55N	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			2	387	+			55					D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	ENST00000262424.5	37	c.163G>A	CCDS10949.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045910	0.93685	.	.	ENSG00000103196	ENST00000262424	T	0.09817	2.94	5.13	5.13	0.70059	CAP domain (2);	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	M	0.81341	2.54	0.80722	D	1	B;D;D;D;D;D	0.89917	0.143;1.0;1.0;0.997;1.0;1.0	B;D;D;D;D;D	0.97110	0.141;0.998;0.996;0.986;0.999;1.0	T	0.15549	-1.0433	10	0.72032	D	0.01	.	16.4241	0.83808	0.0:0.0:1.0:0.0	.	55;55;55;55;55;55	Q9H0B8;B4E1L1;Q9H0B8-5;Q9H0B8-2;Q9H0B8-3;Q9H0B8-4	CRLD2_HUMAN;.;.;.;.;.	N	55	ENSP00000262424:D55N	ENSP00000262424:D55N	D	+	1	0	CRISPLD2	83429765	1.000000	0.71417	0.353000	0.25747	0.880000	0.50808	9.119000	0.94362	2.545000	0.85829	0.462000	0.41574	GAC		0.617	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		43	50	0	0	0	1	0	43	50				
NBPF10	100132406	broad.mit.edu	37	1	145293478	145293478	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr1:145293478C>T	ENST00000369339.3	+	3	326	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.R25C|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	296						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CGAGACATTGCGCCCCCAGCT	0.502																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(73-75)Cgc>Tgc		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145293478C>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.73C>T	1.37:g.145293478C>T	ENSP00000358345:p.Arg25Cys					RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Missense_Mutation_p.R25C	p.R25C	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	108	+	all_hematologic(923;0.032)		25					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.73C>T		.	.	.	.	.	.	.	.	.	.	.	7.184	0.590223	0.13812	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.03441	3.93	1.06	-1.21	0.09524	.	.	.	.	.	T	0.01092	0.0036	L	0.51914	1.62	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.44711	-0.9310	9	0.39692	T	0.17	.	3.9047	0.09177	0.0:0.4611:0.0:0.5389	.	25	A8MQ30	.	C	25	ENSP00000345684:R25C	ENSP00000345684:R25C	R	+	1	0	NBPF10	144004835	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.505000	0.06367	-0.464000	0.06963	0.184000	0.17185	CGC		0.502	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		7	874	0	0	0	1	0	7	874				
ITIH5	80760	broad.mit.edu	37	10	7605143	7605143	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr10:7605143G>A	ENST00000256861.6	-	14	2810	c.2732C>T	c.(2731-2733)gCc>gTc	p.A911V	ITIH5_ENST00000298441.6_Missense_Mutation_p.A697V|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Missense_Mutation_p.A693V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	911					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAGTTTGGCGGCATTGTTCCT	0.522																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(2731-2733)gCc>gTc		inter-alpha-trypsin inhibitor heavy chain family, member 5							194.0	155.0	168.0					10																	7605143		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7605143G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2732C>T	10.37:g.7605143G>A	ENSP00000256861:p.Ala911Val					ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Missense_Mutation_p.A693V|ITIH5_ENST00000298441.6_Missense_Mutation_p.A697V	p.A911V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			14	2810	-			911					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.2732C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.191492	0.94923	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.02280	4.56;4.36;4.38	5.79	5.79	0.91817	.	0.103793	0.64402	D	0.000002	T	0.13670	0.0331	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70227	0.929;0.968	T	0.00025	-1.2315	9	0.72032	D	0.01	-26.4128	20.0275	0.97527	0.0:0.0:1.0:0.0	.	911;697	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	V	911;697;693	ENSP00000256861:A911V;ENSP00000298441:A697V;ENSP00000387969:A693V	ENSP00000256861:A911V	A	-	2	0	ITIH5	7645149	1.000000	0.71417	0.905000	0.35620	0.802000	0.45316	9.282000	0.95840	2.737000	0.93849	0.650000	0.86243	GCC		0.522	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		4	178	0	0	0	1	0	4	178				
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-	rs147600909		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527																																						ENST00000474524.1																			1	Substitution - Missense(1)	p.Q2111E(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6331-6333)del		mediator complex subunit 12-like																																				SO:0001651	inframe_deletion	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148114_151148116delCAG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6331_6333delCAG	3.37:g.151148123_151148125delCAG	ENSP00000417235:p.Gln2115del					MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	p.Q2115del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6369_6371	+			2115			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	In_Frame_Del	DEL	ENST00000474524.1	37	c.6331_6333delCAG	CCDS33876.1																																																																																				0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		8	125						8	125	---	---	---	---
KLF3	51274	broad.mit.edu	37	4	38691475	38691476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr4:38691475_38691476insC	ENST00000261438.5	+	4	975_976	c.670_671insC	c.(670-672)tccfs	p.S224fs	KLF3_ENST00000514033.1_Frame_Shift_Ins_p.S224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	224	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|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)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GAACTCAGTGTCCCCCCCGCAA	0.426																																						ENST00000261438.5																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(670-672)cccfs		Kruppel-like factor 3 (basic)																																				SO:0001589	frameshift_variant	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38691475_38691476insC	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.677dupC	4.37:g.38691482_38691482dupC	ENSP00000261438:p.Ser224fs					KLF3_ENST00000514033.1_Frame_Shift_Ins_p.P224fs	p.P224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN			4	975_976	+			224			Pro-rich.		Q6PIR1|Q86TN0|Q9P2X6	Frame_Shift_Ins	INS	ENST00000261438.5	37	c.670_671insC	CCDS3444.1																																																																																				0.426	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			9	242						9	242	---	---	---	---
MTBP	27085	broad.mit.edu	37	8	121528321	121528321	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr8:121528321delA	ENST00000305949.1	+	18	2181	c.2136delA	c.(2134-2136)tcafs	p.S712fs		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	712	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TAGTTTCGTCAGATCCTGGAA	0.423																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(2134-2136)tcfs		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							107.0	101.0	103.0					8																	121528321		2203	4299	6502	SO:0001589	frameshift_variant	27085				cell cycle arrest			g.chr8:121528321delA		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2136delA	8.37:g.121528321delA	ENSP00000303398:p.Ser712fs						p.S712fs	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		18	2181	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		712			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Frame_Shift_Del	DEL	ENST00000305949.1	37	c.2136delA	CCDS6333.1																																																																																				0.423	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		33	93						33	93	---	---	---	---
ANKRD19P	138649	broad.mit.edu	37	9	95647938	95647939	+	RNA	INS	-	-	G			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr9:95647938_95647939insG	ENST00000446878.1	+	0	1217_1218				ANKRD19P_ENST00000473204.1_RNA																							TTGGGGAATTTGGTTAAATCAC	0.446																																						ENST00000446878.1																			0																																																			0							g.chr9:95647938_95647939insG																													9.37:g.95647940_95647940dupG						ANKRD19P_ENST00000473204.1_RNA								0	1217_1218	+									RNA	INS	ENST00000446878.1	37																																																																																						0.446	RP11-526D8.7-006	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000316907.1			22	138						22	138	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81052006	81052026	+	In_Frame_Del	DEL	GCAGCAGCGGCAGTGGCAGCA	GCAGCAGCGGCAGTGGCAGCA	-	rs551280800		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	ENST00000334512.5	+	11	1422_1442	c.850_870delGCAGCAGCGGCAGTGGCAGCA	c.(850-870)gcagcagcggcagtggcagcadel	p.AAAAVAA284del	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	284	Ala-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ggcagccgctgcagcagcggcagtggcagcagcagcagcCA	0.652																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(850-870)del		zinc finger, MIZ-type containing 1																																				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.850_870delGCAGCAGCGGCAGTGGCAGCA	10.37:g.81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	ENSP00000334474:p.Ala284_Ala290del					ZMIZ1_ENST00000478357.1_3'UTR	p.AAAAVAA284del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		11	1422_1442	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		284			Ala-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.850_870delGCAGCAGCGGCAGTGGCAGCA	CCDS7357.1																																																																																				0.652	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		9	167						9	167	---	---	---	---
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(991-993)ggfs		transmembrane protein 19							199.0	184.0	189.0					12																	72094757		2203	4300	6503	SO:0001589	frameshift_variant	55266					integral to membrane		g.chr12:72094757delT	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.993delT	12.37:g.72094757delT	ENSP00000266673:p.Gly331fs						p.G331fs	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1587	+		Breast(359;0.0889)	331					B2RDL2|Q53FY3|Q9NV41	Frame_Shift_Del	DEL	ENST00000266673.5	37	c.993delT	CCDS9002.1																																																																																				0.433	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		7	275						7	275	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28194933	28194934	+	In_Frame_Ins	INS	-	-	TGC	rs572936881|rs34890218|rs373314940|rs71194738	byFrequency	TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr22:28194933_28194934insTGC	ENST00000302326.4	-	1	2552_2553	c.1598_1599insGCA	c.(1597-1599)caa>caGCAa	p.533_533Q>QQ		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	533	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgttgctgctgctg	0.653			T	ETV6	"""AML, meningioma"""									447	0.0892572	0.0393	0.1196	5008	,	,		12327	0.0774		0.1789	False		,,,				2504	0.0552					ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1597-1599)cca>cGCAca		meningioma (disrupted in balanced translocation) 1																																				SO:0001652	inframe_insertion	4330						binding	g.chr22:28194933_28194934insTGC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1596_1598dupGCA	22.37:g.28194940_28194942dupTGC	ENSP00000304956:p.Gln550dup						p.533_533P>RT	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2552_2553	-			533			Poly-Gln.		A9Z1V9	In_Frame_Ins	INS	ENST00000302326.4	37	c.1598_1599insGCA	CCDS42998.1																																																																																				0.653	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		6	8						6	8	---	---	---	---
PLXNA3	55558	broad.mit.edu	37	X	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G	rs375310385		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chrX:153688564_153688565insG	ENST00000369682.3	+	2	216_217	c.41_42insG	c.(40-45)gtggggfs	p.VG14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTTGCCGTGGGGGGGGCCC	0.683																																						ENST00000369682.3																			1	Insertion - Frameshift(1)	p.A17fs*39(1)	ovary(1)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(40-42)gggfs		plexin A3																																				SO:0001589	frameshift_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153688564_153688565insG	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.49dupG	X.37:g.153688572_153688572dupG	ENSP00000358696:p.Val14fs						p.G14fs	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			2	216_217	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		14					Q5HY36	Frame_Shift_Ins	INS	ENST00000369682.3	37	c.41_42insG	CCDS14752.1																																																																																				0.683	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		7	155						7	155	---	---	---	---
