#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
CDC5L	988	broad.mit.edu	37	6	44387238	44387238	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr6:44387238G>T	ENST00000371477.3	+	9	1444	c.1145G>T	c.(1144-1146)gGa>gTa	p.G382V		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	382	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTGAAAGGTGGACTTAATACC	0.443																																						ENST00000371477.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(1144-1146)gGa>gTa		cell division cycle 5-like							155.0	134.0	141.0					6																	44387238		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44387238G>T	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1145G>T	6.37:g.44387238G>T	ENSP00000360532:p.Gly382Val						p.G382V	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		9	1444	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		382			Interaction with PPP1R8.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.1145G>T	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197590	0.94997	.	.	ENSG00000096401	ENST00000371477	T	0.60797	0.16	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.80138	0.4568	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.83691	0.0177	10	0.87932	D	0	-24.117	20.0235	0.97511	0.0:0.0:1.0:0.0	.	382	Q99459	CDC5L_HUMAN	V	382	ENSP00000360532:G382V	ENSP00000360532:G382V	G	+	2	0	CDC5L	44495216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.859000	0.99545	2.727000	0.93392	0.563000	0.77884	GGA		0.443	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			19	52	1	0	1.01871e-10	1	1.10361e-10	19	52				
ESR1	2099	broad.mit.edu	37	6	152163816	152163816	+	Silent	SNP	C	C	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr6:152163816C>A	ENST00000206249.3	+	2	899	c.537C>A	c.(535-537)gcC>gcA	p.A179A	ESR1_ENST00000456483.2_Silent_p.A179A|ESR1_ENST00000427531.2_Silent_p.A6A|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000440973.1_Silent_p.A179A|ESR1_ENST00000443427.1_Silent_p.A179A|ESR1_ENST00000338799.5_Silent_p.A179A	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	179	Modulating (transactivation AF-1); mediates interaction with MACROD1.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	TGGAATCTGCCAAGGAGACTC	0.498																																						ENST00000440973.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(535-537)gcC>gcA		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						122.0	107.0	112.0					6																	152163816		2203	4300	6503	SO:0001819	synonymous_variant	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152163816C>A	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.537C>A	6.37:g.152163816C>A						ESR1_ENST00000443427.1_Silent_p.A179A|ESR1_ENST00000206249.3_Silent_p.A179A|ESR1_ENST00000338799.5_Silent_p.A179A|ESR1_ENST00000456483.2_Silent_p.A179A|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000544394.1_Silent_p.A6A	p.A179A	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	4	907	+		Ovarian(120;0.0448)	179			Modulating; mediates interaction with MACROD1.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	c.537C>A	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339767	0.24339	.	.	ENSG00000091831	ENST00000427531	.	.	.	5.96	5.09	0.68999	.	.	.	.	.	T	0.62295	0.2416	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63571	-0.6607	4	.	.	.	.	15.2034	0.73159	0.0:0.9327:0.0:0.0673	.	.	.	.	Q	84	.	.	P	+	2	0	ESR1	152205509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.535000	0.36061	1.542000	0.49330	0.585000	0.79938	CCA		0.498	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			12	50	1	0	0.00010058	1	0.000102151	12	50				
HSD3B7	80270	broad.mit.edu	37	16	30998261	30998261	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr16:30998261G>A	ENST00000297679.5	+	6	725	c.632G>A	c.(631-633)cGc>cAc	p.R211H	HSD3B7_ENST00000353250.5_Intron|AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000262520.6_Intron	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	211					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)	p.R211H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAGGGCCTGCGCCTGGGAGGT	0.662																																						ENST00000297679.5																			1	Substitution - Missense(1)	p.R211H(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(631-633)cGc>cAc		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7							43.0	44.0	44.0					16																	30998261		2197	4300	6497	SO:0001583	missense	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30998261G>A	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.632G>A	16.37:g.30998261G>A	ENSP00000297679:p.Arg211His					HSD3B7_ENST00000353250.5_Intron|HSD3B7_ENST00000262520.6_Intron	p.R211H	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN			6	725	+			211					Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	c.632G>A	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062097	0.93846	.	.	ENSG00000099377	ENST00000297679	D	0.84873	-1.91	5.65	4.64	0.57946	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.224270	0.44097	D	0.000500	D	0.90021	0.6884	M	0.79011	2.435	0.80722	D	1	D	0.62365	0.991	P	0.57911	0.829	D	0.90835	0.4719	10	0.72032	D	0.01	-24.7331	13.063	0.59018	0.0:0.0:0.7608:0.2392	.	211	Q9H2F3	3BHS7_HUMAN	H	211	ENSP00000297679:R211H	ENSP00000297679:R211H	R	+	2	0	HSD3B7	30905762	0.987000	0.35691	1.000000	0.80357	0.967000	0.64934	1.882000	0.39648	2.667000	0.90743	0.561000	0.74099	CGC		0.662	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			33	43	0	0	0	1	0	33	43				
PCDH15	65217	broad.mit.edu	37	10	55582405	55582405	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr10:55582405G>A	ENST00000320301.6	-	33	5475	c.5081C>T	c.(5080-5082)gCt>gTt	p.A1694V	PCDH15_ENST00000395432.2_Missense_Mutation_p.A1654V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1691V|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1696V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1671V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1625V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1694					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGAACACTCAGCAGGAGAACT	0.418										HNSCC(58;0.16)																												ENST00000361849.3																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(5086-5088)gCt>gTt		protocadherin-related 15							117.0	116.0	116.0					10																	55582405		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582405G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5081C>T	10.37:g.55582405G>A	ENSP00000322604:p.Ala1694Val	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.A1671V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1654V|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1691V|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000320301.6_Missense_Mutation_p.A1694V|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1625V|PCDH15_ENST00000395440.1_Intron	p.A1696V	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN			34	5481	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1694					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.5087C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722857	0.30503	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.56941	0.46;0.43;0.48;0.45;0.44;0.45	4.84	1.79	0.24919	.	.	.	.	.	T	0.37945	0.1022	L	0.29908	0.895	0.23572	N	0.997387	B;B;B;B;B;B;B;B	0.30937	0.073;0.073;0.073;0.073;0.129;0.073;0.301;0.073	B;B;B;B;B;B;B;B	0.29524	0.103;0.071;0.071;0.103;0.103;0.071;0.08;0.071	T	0.28870	-1.0030	9	0.66056	D	0.02	.	7.5405	0.27735	0.0815:0.0:0.4314:0.4872	.	1671;1694;1696;1701;1625;1654;1691;1694	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	V	1654;1696;1671;1694;1691;1701;1625	ENSP00000378820:A1654V;ENSP00000354950:A1696V;ENSP00000378821:A1671V;ENSP00000322604:A1694V;ENSP00000378818:A1691V;ENSP00000412628:A1625V	ENSP00000322604:A1694V	A	-	2	0	PCDH15	55252411	0.724000	0.28038	0.657000	0.29651	0.355000	0.29361	1.304000	0.33482	0.395000	0.25257	0.655000	0.94253	GCT		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		19	54	0	0	0	1	0	19	54				
ERC2	26059	broad.mit.edu	37	3	56468653	56468653	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr3:56468653G>C	ENST00000288221.6	-	2	638	c.383C>G	c.(382-384)tCc>tGc	p.S128C		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	128						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTGATGATGGGATGAGCCAGT	0.507																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(382-384)tCc>tGc		ELKS/RAB6-interacting/CAST family member 2							198.0	193.0	194.0					3																	56468653		2029	4177	6206	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468653G>C	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.383C>G	3.37:g.56468653G>C	ENSP00000288221:p.Ser128Cys						p.S128C	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	638	-			128					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.383C>G	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996051	0.74703	.	.	ENSG00000187672	ENST00000288221	T	0.33865	1.39	5.87	5.87	0.94306	.	0.376195	0.30809	N	0.008826	T	0.33265	0.0857	N	0.14661	0.345	0.51012	D	0.999901	B	0.32693	0.38	B	0.39738	0.308	T	0.24548	-1.0157	10	0.72032	D	0.01	-3.1134	20.2245	0.98337	0.0:0.0:1.0:0.0	.	128	O15083	ERC2_HUMAN	C	128	ENSP00000288221:S128C	ENSP00000288221:S128C	S	-	2	0	ERC2	56443693	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.828000	0.75308	2.770000	0.95276	0.650000	0.86243	TCC		0.507	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		55	49	0	0	0	1	0	55	49				
SMCHD1	23347	broad.mit.edu	37	18	2718395	2718395	+	Silent	SNP	A	A	G			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr18:2718395A>G	ENST00000320876.6	+	19	2759	c.2421A>G	c.(2419-2421)agA>agG	p.R807R	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.R807R	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	807					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATGCAGGAAGACCACTACCAT	0.299																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(2419-2421)agA>agG		structural maintenance of chromosomes flexible hinge domain containing 1							98.0	96.0	97.0					18																	2718395		1824	4074	5898	SO:0001819	synonymous_variant	23347				chromosome organization		ATP binding	g.chr18:2718395A>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2421A>G	18.37:g.2718395A>G						RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.R807R	p.R807R	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			19	2759	+			807					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	37	c.2421A>G	CCDS45822.1																																																																																				0.299	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			26	276	0	0	0	1	0	26	276				
ZPLD1	131368	broad.mit.edu	37	3	102171763	102171763	+	Splice_Site	SNP	C	C	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr3:102171763C>A	ENST00000491959.1	+	10	989	c.107C>A	c.(106-108)gCt>gAt	p.A36D	ZPLD1_ENST00000306176.1_Splice_Site_p.A52D|ZPLD1_ENST00000466937.1_Splice_Site_p.A36D			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	36						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTTATTTCAGCTGAAAGAGAC	0.328																																						ENST00000306176.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.e3-1		zona pellucida-like domain containing 1							48.0	49.0	49.0					3																	102171763		2203	4299	6502	SO:0001630	splice_region_variant	131368					integral to membrane		g.chr3:102171763C>A	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.107-1C>A	3.37:g.102171763C>A						ZPLD1_ENST00000491959.1_Splice_Site_p.A36_splice|ZPLD1_ENST00000466937.1_Splice_Site_p.A36_splice	p.A52_splice	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN			3	255	+			36			ZP.		Q49AS1|Q8WU36	Splice_Site	SNP	ENST00000491959.1	37	c.154_splice		.	.	.	.	.	.	.	.	.	.	C	11.69	1.712554	0.30322	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	T;T;T	0.81078	-1.43;-1.45;-1.43	5.99	5.1	0.69264	.	0.212191	0.48767	D	0.000173	T	0.78039	0.4221	L	0.32530	0.975	0.80722	D	1	P;B	0.49783	0.928;0.011	P;B	0.48270	0.572;0.012	T	0.76575	-0.2909	9	.	.	.	.	17.1813	0.86856	0.0:0.8739:0.1261:0.0	.	52;36	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	D	36;52;36	ENSP00000420265:A36D;ENSP00000307801:A52D;ENSP00000418253:A36D	.	A	+	2	0	ZPLD1	103654453	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.754000	0.55189	1.499000	0.48617	0.655000	0.94253	GCT		0.328	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056	Missense_Mutation	26	14	1	0	2.48779e-11	1	2.71776e-11	26	14				
ST6GALNAC5	81849	broad.mit.edu	37	1	77509973	77509973	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:77509973C>A	ENST00000477717.1	+	3	581	c.346C>A	c.(346-348)Cag>Aag	p.Q116K		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	116					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CCAGATTGACCAGACAGAGTG	0.617																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(346-348)Cag>Aag		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5							60.0	54.0	56.0					1																	77509973		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77509973C>A		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.346C>A	1.37:g.77509973C>A	ENSP00000417583:p.Gln116Lys						p.Q116K	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			3	581	+			116					B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.346C>A	CCDS673.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596257	0.28445	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.28454	1.61	5.63	4.67	0.58626	.	0.277023	0.42420	D	0.000719	T	0.16727	0.0402	L	0.31804	0.96	0.50171	D	0.999855	B	0.19445	0.036	B	0.32149	0.141	T	0.04053	-1.0981	10	0.41790	T	0.15	-22.9288	16.1466	0.81577	0.0:0.7858:0.2142:0.0	.	116	Q9BVH7	SIA7E_HUMAN	K	116;26	ENSP00000417583:Q116K	ENSP00000436263:Q116K	Q	+	1	0	ST6GALNAC5	77282561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	1.930000	0.40124	2.645000	0.89757	0.591000	0.81541	CAG		0.617	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		21	24	1	0	7.41877e-09	1	7.90525e-09	21	24				
RAP1GDS1	5910	broad.mit.edu	37	4	99313207	99313207	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr4:99313207G>T	ENST00000408927.3	+	6	726	c.613G>T	c.(613-615)Gca>Tca	p.A205S	RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A206S|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A157S|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A206S|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A156S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	205					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GTGTCTTGTTGCATTTGGTAA	0.343			T	NUP98	T-ALL																																	ENST00000408927.3				Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28						c.(613-615)Gca>Tca		RAP1, GTP-GDP dissociation stimulator 1							111.0	104.0	106.0					4																	99313207		1847	4084	5931	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99313207G>T		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.613G>T	4.37:g.99313207G>T	ENSP00000386153:p.Ala205Ser					RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A157S|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A156S|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A206S|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A206S	p.A205S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	6	726	+			205					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.613G>T	CCDS43253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.760848|4.760848	0.89932|0.89932	.|.	.|.	ENSG00000138698|ENSG00000138698	ENST00000509011;ENST00000380158;ENST00000408927;ENST00000514122;ENST00000453712;ENST00000408900;ENST00000339360|ENST00000509501	T;T;T;T;T;T;T|.	0.80738|.	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41|.	5.75|5.75	4.91|4.91	0.64330|0.64330	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69296|0.69296	0.3095|0.3095	L|L	0.58101|0.58101	1.795|1.795	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D;D;D|.	0.89917|.	0.99;0.992;0.975;0.992;1.0;0.996|.	D;D;P;D;D;D|.	0.77004|.	0.98;0.989;0.819;0.927;0.972;0.946|.	T|T	0.68062|0.68062	-0.5508|-0.5508	10|5	0.21540|.	T|.	0.41|.	-10.7398|-10.7398	14.7841|14.7841	0.69787|0.69787	0.0692:0.0:0.9308:0.0|0.0692:0.0:0.9308:0.0	.|.	156;157;205;206;206;205|.	P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9;B3KNU0|.	.;.;GDS1_HUMAN;.;.;.|.	S|F	115;157;205;114;206;156;206|56	ENSP00000425992:A115S;ENSP00000369503:A157S;ENSP00000386153:A205S;ENSP00000424324:A114S;ENSP00000407157:A206S;ENSP00000386223:A156S;ENSP00000340454:A206S|.	ENSP00000340454:A206S|.	A|C	+|+	1|2	0|0	RAP1GDS1|RAP1GDS1	99532230|99532230	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.357000|9.357000	0.97099|0.97099	1.437000|1.437000	0.47472|0.47472	0.455000|0.455000	0.32223|0.32223	GCA|TGC		0.343	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		9	24	1	0	3.09899e-07	1	3.22294e-07	9	24				
ATAD2	29028	broad.mit.edu	37	8	124382228	124382228	+	Missense_Mutation	SNP	T	T	A	rs375199463		TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr8:124382228T>A	ENST00000287394.5	-	7	871	c.764A>T	c.(763-765)gAt>gTt	p.D255V	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	255	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ttcaccatcatcttcatGTTC	0.348																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(763-765)gAt>gTt		ATPase family, AAA domain containing 2							166.0	135.0	145.0					8																	124382228		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382228T>A	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.764A>T	8.37:g.124382228T>A	ENSP00000287394:p.Asp255Val					ATAD2_ENST00000521903.1_5'UTR	p.D255V	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	871	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		255			Asp-rich.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.764A>T	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	T	8.649	0.897711	0.17686	.	.	ENSG00000156802	ENST00000287394	T	0.21191	2.02	3.96	1.44	0.22558	.	.	.	.	.	T	0.12860	0.0312	N	0.24115	0.695	0.80722	D	1	P;B	0.39883	0.693;0.112	B;B	0.40636	0.335;0.021	T	0.15464	-1.0436	9	0.24483	T	0.36	-4.1477	6.6972	0.23205	0.0:0.2061:0.0:0.7939	.	85;255	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	V	255	ENSP00000287394:D255V	ENSP00000287394:D255V	D	-	2	0	ATAD2	124451409	0.986000	0.35501	0.999000	0.59377	0.837000	0.47467	1.808000	0.38912	0.181000	0.19994	-0.250000	0.11733	GAT		0.348	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		29	23	0	0	0	1	0	29	23				
GRIA2	2891	broad.mit.edu	37	4	158281241	158281241	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr4:158281241G>T	ENST00000264426.9	+	13	2516	c.2237G>T	c.(2236-2238)gGa>gTa	p.G746V	GRIA2_ENST00000393815.2_Missense_Mutation_p.G699V|GRIA2_ENST00000296526.7_Missense_Mutation_p.G746V|GRIA2_ENST00000449365.1_Missense_Mutation_p.G699V|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000507898.1_Missense_Mutation_p.G699V	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	746					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AAAGTTGGTGGAAACCTGGAT	0.438																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(2236-2238)gGa>gTa		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						140.0	120.0	127.0					4																	158281241		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158281241G>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2237G>T	4.37:g.158281241G>T	ENSP00000264426:p.Gly746Val					GRIA2_ENST00000507898.1_Missense_Mutation_p.G699V|GRIA2_ENST00000449365.1_Missense_Mutation_p.G699V|GRIA2_ENST00000264426.9_Missense_Mutation_p.G746V|GRIA2_ENST00000393815.2_Missense_Mutation_p.G699V	p.G746V	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	13	2562	+	all_hematologic(180;0.24)	Renal(120;0.0458)	746					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.2237G>T	CCDS43274.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.76|17.76	3.467806|3.467806	0.63625|0.63625	.|.	.|.	ENSG00000120251|ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000421983;ENST00000449365|ENST00000510854	T;T;T;T;T|.	0.39056|.	1.1;1.1;1.1;1.1;1.1|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Ionotropic glutamate receptor (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76471|0.76471	0.3992|0.3992	M|M	0.70903|0.70903	2.155|2.155	0.80722|0.80722	D|D	1|1	D;D;P;D;D;D|.	0.89917|.	0.996;1.0;0.862;1.0;0.999;1.0|.	D;D;B;D;D;D|.	0.97110|.	0.962;0.999;0.444;1.0;0.979;0.999|.	T|T	0.74714|0.74714	-0.3572|-0.3572	10|5	0.87932|.	D|.	0|.	.|.	19.6373|19.6373	0.95740|0.95740	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	774;746;14;746;746;699|.	Q59F93;P42262-3;B8XY72;P42262;P42262-2;A8MT92|.	.;.;.;GRIA2_HUMAN;.;.|.	V|C	699;699;746;746;18;699|76	ENSP00000426845:G699V;ENSP00000377403:G699V;ENSP00000296526:G746V;ENSP00000264426:G746V;ENSP00000389837:G699V|.	ENSP00000264426:G746V|.	G|W	+|+	2|3	0|0	GRIA2|GRIA2	158500691|158500691	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.990000|0.990000	0.78478|0.78478	9.869000|9.869000	0.99810|0.99810	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.438	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			10	20	1	0	2.17888e-05	1	2.23035e-05	10	20				
DNAH9	1770	broad.mit.edu	37	17	11835376	11835376	+	Missense_Mutation	SNP	C	C	T	rs567961284		TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr17:11835376C>T	ENST00000262442.4	+	64	12219	c.12151C>T	c.(12151-12153)Ctc>Ttc	p.L4051F	DNAH9_ENST00000608377.1_Missense_Mutation_p.L363F|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.L3975F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4051	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TAAGAGCATCCTCTTTGCTCT	0.493																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(12151-12153)Ctc>Ttc		dynein, axonemal, heavy chain 9							328.0	302.0	311.0					17																	11835376		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11835376C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12151C>T	17.37:g.11835376C>T	ENSP00000262442:p.Leu4051Phe					DNAH9_ENST00000396001.2_Missense_Mutation_p.L363F|DNAH9_ENST00000454412.2_Missense_Mutation_p.L3975F	p.L4051F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	64	12219	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4051			AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.12151C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.366177	0.61513	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.10860	2.83;2.83;2.83	4.96	3.93	0.45458	Dynein heavy chain (1);	0.136464	0.48286	D	0.000195	T	0.34366	0.0895	M	0.86028	2.79	0.46874	D	0.999239	D	0.57257	0.979	D	0.65987	0.94	T	0.23368	-1.0190	10	0.87932	D	0	.	13.8951	0.63766	0.0:0.9153:0.0:0.0847	.	4051	Q9NYC9	DYH9_HUMAN	F	4051;3975;2557;363	ENSP00000262442:L4051F;ENSP00000414874:L3975F;ENSP00000379323:L363F	ENSP00000262442:L4051F	L	+	1	0	DNAH9	11776101	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	3.045000	0.49838	2.564000	0.86499	0.563000	0.77884	CTC		0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		86	178	0	0	0	1	0	86	178				
ANKRD17	26057	broad.mit.edu	37	4	74014589	74014589	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr4:74014589G>A	ENST00000358602.4	-	8	1624	c.1508C>T	c.(1507-1509)cCa>cTa	p.P503L	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P390L|ANKRD17_ENST00000330838.6_Missense_Mutation_p.P503L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	503					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCCATCAATGGTGTATAACC	0.423																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(1507-1509)cCa>cTa		ankyrin repeat domain 17							126.0	109.0	115.0					4																	74014589		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74014589G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1508C>T	4.37:g.74014589G>A	ENSP00000351416:p.Pro503Leu					ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P390L|ANKRD17_ENST00000330838.6_Missense_Mutation_p.P503L	p.P503L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	1624	-	Breast(15;0.000295)		503					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.1508C>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131598	0.94473	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.70516	-0.49;-0.49;-0.49	5.28	5.28	0.74379	Ankyrin repeat-containing domain (5);	0.000000	0.64402	D	0.000005	D	0.85044	0.5607	M	0.78223	2.4	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;0.999	D	0.86106	0.1559	10	0.62326	D	0.03	.	19.2823	0.94057	0.0:0.0:1.0:0.0	.	88;503;503;503;390	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	L	503;503;503;390;503	ENSP00000351416:P503L;ENSP00000332265:P503L;ENSP00000427151:P390L	ENSP00000332265:P503L	P	-	2	0	ANKRD17	74233453	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	9.672000	0.98629	2.617000	0.88574	0.591000	0.81541	CCA		0.423	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		20	42	0	0	0	1	0	20	42				
TAOK1	57551	broad.mit.edu	37	17	27825376	27825376	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr17:27825376G>A	ENST00000261716.3	+	12	1559	c.1040G>A	c.(1039-1041)aGt>aAt	p.S347N	TAOK1_ENST00000536202.1_Missense_Mutation_p.S347N	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	347	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			ACAGTTAATAGTGTTGGAAGT	0.408																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1039-1041)aGt>aAt		TAO kinase 1							138.0	121.0	127.0					17																	27825376		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27825376G>A	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1040G>A	17.37:g.27825376G>A	ENSP00000261716:p.Ser347Asn					TAOK1_ENST00000536202.1_Missense_Mutation_p.S347N	p.S347N	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		12	1559	+			347			Ser-rich.		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.1040G>A	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246690	0.95305	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	D;D	0.84146	-1.81;-1.81	5.46	5.46	0.80206	Protein kinase-like domain (1);	0.038542	0.85682	D	0.000000	D	0.93177	0.7827	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.99;0.996;0.99	D	0.93697	0.7012	10	0.72032	D	0.01	.	19.299	0.94136	0.0:0.0:1.0:0.0	.	347;173;347	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	N	347	ENSP00000261716:S347N;ENSP00000438819:S347N	ENSP00000261716:S347N	S	+	2	0	TAOK1	24849502	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.567000	0.86603	0.467000	0.42956	AGT		0.408	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		17	49	0	0	0	1	0	17	49				
HAPLN1	1404	broad.mit.edu	37	5	82937489	82937489	+	Missense_Mutation	SNP	T	T	A	rs372965809		TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr5:82937489T>A	ENST00000274341.4	-	5	1741	c.891A>T	c.(889-891)aaA>aaT	p.K297N		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	297	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	ATCCGAGAATTTTCCAGGCAG	0.547																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(889-891)aaA>aaT		hyaluronan and proteoglycan link protein 1							139.0	142.0	141.0					5																	82937489		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82937489T>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.891A>T	5.37:g.82937489T>A	ENSP00000274341:p.Lys297Asn						p.K297N	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	5	1741	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	297			Link 2.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.891A>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.967698	0.34754	.	.	ENSG00000145681	ENST00000274341	T	0.08720	3.06	5.07	-3.52	0.04682	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.042869	0.85682	N	0.000000	T	0.22551	0.0544	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.00116	-1.2037	10	0.66056	D	0.02	.	13.9387	0.64041	0.0:0.5756:0.0:0.4244	.	297	P10915	HPLN1_HUMAN	N	297	ENSP00000274341:K297N	ENSP00000274341:K297N	K	-	3	2	HAPLN1	82973245	1.000000	0.71417	0.489000	0.27452	0.296000	0.27459	0.649000	0.24843	-0.904000	0.03876	-0.250000	0.11733	AAA		0.547	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		5	190	0	0	0	1	0	5	190				
ZNF347	84671	broad.mit.edu	37	19	53644901	53644901	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr19:53644901T>A	ENST00000334197.7	-	5	1248	c.1180A>T	c.(1180-1182)Acc>Tcc	p.T394S	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.T395S|ZNF347_ENST00000452676.2_Missense_Mutation_p.T395S	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCACTGTGGGTTGCCTGATGG	0.413																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1183-1185)Acc>Tcc		zinc finger protein 347							101.0	102.0	102.0					19																	53644901		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644901T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1180A>T	19.37:g.53644901T>A	ENSP00000334146:p.Thr394Ser					ZNF347_ENST00000334197.7_Missense_Mutation_p.T394S|ZNF347_ENST00000601469.2_Missense_Mutation_p.T395S|ZNF347_ENST00000601804.1_Intron	p.T395S	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1609	-			394					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.1183A>T	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.529496	0.27387	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.07567	3.18;3.18	2.85	0.408	0.16377	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	L	0.35288	1.05	0.09310	N	1	B;B	0.27450	0.179;0.001	B;B	0.28709	0.093;0.002	T	0.35773	-0.9775	9	0.66056	D	0.02	.	6.3206	0.21215	0.0:0.2667:0.0:0.7333	.	395;394	G5E9N4;Q96SE7	.;ZN347_HUMAN	S	394;395	ENSP00000334146:T394S;ENSP00000405218:T395S	ENSP00000334146:T394S	T	-	1	0	ZNF347	58336713	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.195000	0.17155	-0.075000	0.12798	0.533000	0.62120	ACC		0.413	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		32	35	0	0	0	1	0	32	35				
SALL2	6297	broad.mit.edu	37	14	21991048	21991048	+	Silent	SNP	C	C	T	rs530697143		TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr14:21991048C>T	ENST00000327430.3	-	2	3108	c.2814G>A	c.(2812-2814)ccG>ccA	p.P938P	SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Silent_p.P801P|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	938					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AAGTGAAGAGCGGCCCCTCCT	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18089	0.0		0.0	False		,,,				2504	0.0					ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(2812-2814)ccG>ccA		spalt-like transcription factor 2							52.0	54.0	54.0					14																	21991048		2203	4300	6503	SO:0001819	synonymous_variant	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991048C>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2814G>A	14.37:g.21991048C>T						SALL2_ENST00000450879.2_Silent_p.P801P|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	p.P938P	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	3108	-	all_cancers(95;0.000662)		938					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	37	c.2814G>A	CCDS32045.1	.	.	.	.	.	.	.	.	.	.	C	7.709	0.694760	0.15039	.	.	ENSG00000165821	ENST00000546363	.	.	.	4.79	-3.39	0.04868	.	.	.	.	.	T	0.48241	0.1489	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42413	-0.9453	4	.	.	.	-6.2795	6.1691	0.20406	0.1401:0.2551:0.0:0.6048	.	.	.	.	H	797	.	.	R	-	2	0	SALL2	21060888	0.035000	0.19736	0.961000	0.40146	0.998000	0.95712	-1.494000	0.02296	-0.581000	0.05937	0.563000	0.77884	CGC		0.607	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		23	46	0	0	0	1	0	23	46				
LDB2	9079	broad.mit.edu	37	4	16590360	16590360	+	Silent	SNP	T	T	C			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr4:16590360T>C	ENST00000304523.5	-	4	827	c.504A>G	c.(502-504)ttA>ttG	p.L168L	LDB2_ENST00000502640.1_Silent_p.L168L|LDB2_ENST00000441778.2_Silent_p.L168L|LDB2_ENST00000503178.2_Silent_p.L44L|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000515064.1_Silent_p.L168L	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	168					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TTCTCGGGACTAACTCTCGGT	0.393																																						ENST00000502640.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						c.(502-504)ttA>ttG		LIM domain binding 2							200.0	175.0	183.0					4																	16590360		2203	4300	6503	SO:0001819	synonymous_variant	9079						LIM domain binding|transcription cofactor activity	g.chr4:16590360T>C	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.504A>G	4.37:g.16590360T>C						LDB2_ENST00000304523.5_Silent_p.L168L|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000515064.1_Silent_p.L168L|LDB2_ENST00000503178.2_Silent_p.L44L|LDB2_ENST00000441778.2_Silent_p.L168L	p.L168L			O43679	LDB2_HUMAN			4	652	-			168					O60619|O75480	Silent	SNP	ENST00000304523.5	37	c.504A>G	CCDS3420.1	.	.	.	.	.	.	.	.	.	.	T	10.27	1.305114	0.23736	.	.	ENSG00000169744	ENST00000507464	.	.	.	5.36	-2.91	0.05631	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.5897	10.8831	0.46951	0.0:0.4316:0.0:0.5684	.	.	.	.	W	90	.	.	X	-	2	0	LDB2	16199458	0.995000	0.38212	0.971000	0.41717	0.994000	0.84299	0.237000	0.17985	-0.667000	0.05303	-0.256000	0.11100	TAG		0.393	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			32	26	0	0	0	1	0	32	26				
BBX	56987	broad.mit.edu	37	3	107447670	107447670	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr3:107447670A>G	ENST00000325805.8	+	6	751	c.464A>G	c.(463-465)aAg>aGg	p.K155R	BBX_ENST00000415149.2_Missense_Mutation_p.K155R|BBX_ENST00000416476.2_Missense_Mutation_p.K155R|BBX_ENST00000402543.1_Missense_Mutation_p.K155R|BBX_ENST00000406780.1_Missense_Mutation_p.K155R			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	155					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ACCACAAACAAGCCTGTGAAA	0.408																																						ENST00000415149.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(463-465)aAg>aGg		bobby sox homolog (Drosophila)							179.0	187.0	184.0					3																	107447670		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107447670A>G	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.464A>G	3.37:g.107447670A>G	ENSP00000319974:p.Lys155Arg					BBX_ENST00000416476.2_Missense_Mutation_p.K155R|BBX_ENST00000406780.1_Missense_Mutation_p.K155R|BBX_ENST00000402543.1_Missense_Mutation_p.K155R|BBX_ENST00000325805.8_Missense_Mutation_p.K155R	p.K155R	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		6	791	+			155					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.464A>G	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	A	32	5.109179	0.94292	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000427402;ENST00000416476;ENST00000456419;ENST00000402163;ENST00000406780;ENST00000449213;ENST00000429270	D;D;D;D;D;D;D;D;D;D	0.99113	-4.94;-4.95;-4.95;-5.3;-5.25;-5.31;-5.44;-4.94;-4.94;-4.82	6.02	6.02	0.97574	High mobility group, HMG1/HMG2 (1);	0.000000	0.85682	D	0.000000	D	0.98701	0.9564	L	0.32530	0.975	0.54753	D	0.999985	D;D;P;D	0.89917	1.0;1.0;0.885;0.999	D;D;P;D	0.85130	0.997;0.997;0.671;0.996	D	0.99934	1.1344	10	0.72032	D	0.01	-14.512	16.542	0.84395	1.0:0.0:0.0:0.0	.	155;155;155;155	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	R	155	ENSP00000408358:K155R;ENSP00000385317:K155R;ENSP00000319974:K155R;ENSP00000413320:K155R;ENSP00000403860:K155R;ENSP00000413274:K155R;ENSP00000385518:K155R;ENSP00000385530:K155R;ENSP00000407662:K155R;ENSP00000414673:K155R	ENSP00000319974:K155R	K	+	2	0	BBX	108930360	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.711000	0.91396	2.304000	0.77564	0.528000	0.53228	AAG		0.408	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		110	172	0	0	0	1	0	110	172				
BAI1	575	broad.mit.edu	37	8	143603386	143603386	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr8:143603386G>A	ENST00000517894.1	+	21	3979	c.3085G>A	c.(3085-3087)Gtg>Atg	p.V1029M	BAI1_ENST00000323289.5_Missense_Mutation_p.V1029M			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1029					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTTCTGCTGGGTGCTCACCGA	0.692																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3085-3087)Gtg>Atg		brain-specific angiogenesis inhibitor 1							46.0	53.0	51.0					8																	143603386		2200	4300	6500	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143603386G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3085G>A	8.37:g.143603386G>A	ENSP00000430945:p.Val1029Met					BAI1_ENST00000323289.5_Missense_Mutation_p.V1029M	p.V1029M			O14514	BAI1_HUMAN			21	3979	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1029						Missense_Mutation	SNP	ENST00000517894.1	37	c.3085G>A		.	.	.	.	.	.	.	.	.	.	G	20.8	4.049452	0.75846	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.38401	1.14;1.14	3.57	3.57	0.40892	.	0.183622	0.34750	U	0.003720	T	0.15435	0.0372	N	0.00260	-1.75	0.58432	D	0.999995	P	0.42518	0.782	P	0.48425	0.577	T	0.46261	-0.9204	10	0.30854	T	0.27	.	14.1473	0.65357	0.0:0.0:1.0:0.0	.	1029	E9PBK0	.	M	1029	ENSP00000430945:V1029M;ENSP00000313046:V1029M	ENSP00000313046:V1029M	V	+	1	0	BAI1	143600388	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.521000	0.98029	1.525000	0.49052	0.305000	0.20034	GTG		0.692	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		17	37	0	0	0	1	0	17	37				
GIMAP6	474344	broad.mit.edu	37	7	150325213	150325213	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr7:150325213G>T	ENST00000328902.5	-	3	689	c.473C>A	c.(472-474)aCc>aAc	p.T158N	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	158	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCAGGATGGTGTGACCCAG	0.622																																						ENST00000328902.5																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(472-474)aCc>aAc		GTPase, IMAP family member 6							97.0	97.0	97.0					7																	150325213		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150325213G>T	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.473C>A	7.37:g.150325213G>T	ENSP00000330374:p.Thr158Asn					GIMAP6_ENST00000493969.1_3'UTR	p.T158N	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	689	-			158					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.473C>A	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828644	0.50845	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.35605	1.3	4.07	4.07	0.47477	AIG1 (1);	0.119514	0.56097	D	0.000036	T	0.65354	0.2683	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.986;0.999	T	0.73248	-0.4043	10	0.87932	D	0	.	11.6143	0.51080	0.0:0.0:1.0:0.0	.	158;78	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	N	158;219	ENSP00000330374:T158N	ENSP00000330374:T158N	T	-	2	0	GIMAP6	149956146	0.782000	0.28689	0.796000	0.32109	0.052000	0.14988	0.856000	0.27818	2.123000	0.65237	0.561000	0.74099	ACC		0.622	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		49	42	1	0	1.38658e-30	1	1.58118e-30	49	42				
BDP1	55814	broad.mit.edu	37	5	70786870	70786870	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr5:70786870C>G	ENST00000358731.4	+	11	1815	c.1552C>G	c.(1552-1554)Ctt>Gtt	p.L518V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	518					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GGAGCAGATGCTTTCCTGCAC	0.388																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1552-1554)Ctt>Gtt		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							137.0	126.0	130.0					5																	70786870		1906	4126	6032	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70786870C>G	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1552C>G	5.37:g.70786870C>G	ENSP00000351575:p.Leu518Val					BDP1_ENST00000380675.2_5'UTR	p.L518V	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	11	1815	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	518					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.1552C>G	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	6.260	0.416140	0.11870	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.41400	1.0	5.29	3.4	0.38934	.	0.341267	0.25117	N	0.033008	T	0.30262	0.0759	L	0.41236	1.265	0.19775	N	0.99996	B;B;B	0.23540	0.033;0.087;0.041	B;B;B	0.24006	0.019;0.05;0.04	T	0.16660	-1.0395	10	0.09843	T	0.71	.	11.352	0.49594	0.0:0.6164:0.3836:0.0	.	518;518;518	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	V	518;518;98;518	ENSP00000351575:L518V	ENSP00000351575:L518V	L	+	1	0	BDP1	70822626	0.001000	0.12720	0.004000	0.12327	0.151000	0.21798	0.642000	0.24735	1.426000	0.47256	0.650000	0.86243	CTT		0.388	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		31	50	0	0	0	1	0	31	50				
OR9Q1	219956	broad.mit.edu	37	11	57946938	57946938	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:57946938T>G	ENST00000335397.3	+	3	338	c.22T>G	c.(22-24)Ttg>Gtg	p.L8V		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GAACCTCACCTTGGTGACCGA	0.438																																						ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(22-24)Ttg>Gtg		olfactory receptor, family 9, subfamily Q, member 1							180.0	165.0	170.0					11																	57946938		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57946938T>G	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.22T>G	11.37:g.57946938T>G	ENSP00000334934:p.Leu8Val						p.L8V	NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN			3	338	+		Breast(21;0.222)	8					Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.22T>G	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	T	0.024	-1.384891	0.01194	.	.	ENSG00000186509	ENST00000335397	T	0.19938	2.11	4.75	-0.674	0.11369	.	1.238710	0.06032	N	0.653320	T	0.08626	0.0214	N	0.04335	-0.225	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33214	-0.9877	10	0.28530	T	0.3	0.0028	3.4563	0.07516	0.4126:0.2719:0.0:0.3155	.	8	Q8NGQ5	OR9Q1_HUMAN	V	8	ENSP00000334934:L8V	ENSP00000334934:L8V	L	+	1	2	OR9Q1	57703514	0.000000	0.05858	0.002000	0.10522	0.138000	0.21146	-1.691000	0.01920	0.070000	0.16634	0.460000	0.39030	TTG		0.438	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		36	71	0	0	0	1	0	36	71				
IL12RB2	3595	broad.mit.edu	37	1	67792498	67792498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:67792498C>T	ENST00000262345.1	+	4	1085	c.445C>T	c.(445-447)Cga>Tga	p.R149*	IL12RB2_ENST00000544434.1_Nonsense_Mutation_p.R149*|IL12RB2_ENST00000371000.1_Nonsense_Mutation_p.R149*|IL12RB2_ENST00000541374.1_Nonsense_Mutation_p.R149*	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	149	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> Q (in dbSNP:rs17129792). {ECO:0000269|Ref.3}.		cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GGAAAGAGGACGAGACACCCA	0.408																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(445-447)Cga>Tga		interleukin 12 receptor, beta 2							94.0	89.0	91.0					1																	67792498		2203	4300	6503	SO:0001587	stop_gained	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67792498C>T	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.445C>T	1.37:g.67792498C>T	ENSP00000262345:p.Arg149*					IL12RB2_ENST00000541374.1_Nonsense_Mutation_p.R149*|IL12RB2_ENST00000544434.1_Nonsense_Mutation_p.R149*|IL12RB2_ENST00000371000.1_Nonsense_Mutation_p.R149*	p.R149*	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			4	1085	+			149		R -> Q (in dbSNP:rs17129792).	Fibronectin type-III 1.		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Nonsense_Mutation	SNP	ENST00000262345.1	37	c.445C>T	CCDS638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.391938|4.391938	0.83011|0.83011	.|.	.|.	ENSG00000081985|ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434|ENST00000441640	.|.	.|.	.|.	5.71|5.71	3.51|3.51	0.40186|0.40186	.|.	0.201994|.	0.49305|.	D|.	0.000147|.	.|T	.|0.38692	.|0.1050	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.23119	.|-1.0197	.|3	0.02654|.	T|.	1|.	-0.1833|-0.1833	10.9523|10.9523	0.47336|0.47336	0.6716:0.3284:0.0:0.0|0.6716:0.3284:0.0:0.0	.|.	.|.	.|.	.|.	X|M	149|16	.|.	ENSP00000262345:R149X|.	R|T	+|+	1|2	2|0	IL12RB2|IL12RB2	67565086|67565086	0.003000|0.003000	0.15002|0.15002	0.000000|0.000000	0.03702|0.03702	0.538000|0.538000	0.34931|0.34931	0.913000|0.913000	0.28611|0.28611	0.540000|0.540000	0.28808|0.28808	0.563000|0.563000	0.77884|0.77884	CGA|ACG		0.408	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		15	50	0	0	0	1	0	15	50				
PAPPA2	60676	broad.mit.edu	37	1	176734863	176734863	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:176734863G>A	ENST00000367662.3	+	15	5377	c.4213G>A	c.(4213-4215)Gat>Aat	p.D1405N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1405	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGATCATGCTGATGTGGTGAA	0.507																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(4213-4215)Gat>Aat		pappalysin 2							188.0	183.0	185.0					1																	176734863		2089	4218	6307	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176734863G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4213G>A	1.37:g.176734863G>A	ENSP00000356634:p.Asp1405Asn						p.D1405N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			15	5377	+			1405			Sushi 1.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4213G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.740875	0.49151	.	.	ENSG00000116183	ENST00000367662	T	0.01613	4.73	5.69	4.73	0.59995	Sushi/SCR/CCP (1);	0.102606	0.43110	D	0.000619	T	0.03695	0.0105	M	0.63428	1.95	0.38401	D	0.945673	B	0.33777	0.425	B	0.39590	0.304	T	0.49934	-0.8886	10	0.33940	T	0.23	-13.2497	12.5461	0.56201	0.0:0.0:0.8338:0.1662	.	1405	Q9BXP8	PAPP2_HUMAN	N	1405	ENSP00000356634:D1405N	ENSP00000356634:D1405N	D	+	1	0	PAPPA2	175001486	0.878000	0.30173	0.565000	0.28409	0.883000	0.51084	2.740000	0.47418	2.691000	0.91804	0.655000	0.94253	GAT		0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			45	94	0	0	0	1	0	45	94				
PTPRZ1	5803	broad.mit.edu	37	7	121679547	121679547	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr7:121679547G>C	ENST00000393386.2	+	20	5953	c.5542G>C	c.(5542-5544)Gag>Cag	p.E1848Q	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E981Q	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1848	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGGGAGTGAGGAGTACGGGAA	0.393																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(5542-5544)Gag>Cag		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							104.0	101.0	102.0					7																	121679547		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121679547G>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5542G>C	7.37:g.121679547G>C	ENSP00000377047:p.Glu1848Gln					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E981Q	p.E1848Q	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			20	5953	+			1848			Tyrosine-protein phosphatase 1.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.5542G>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065372	0.93898	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	D;D	0.83992	-1.79;-1.79	5.93	5.93	0.95920	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	D	0.000002	D	0.86331	0.5907	N	0.21448	0.665	0.53005	D	0.99996	D;B;D	0.71674	0.997;0.026;0.998	P;B;D	0.71184	0.863;0.083;0.972	D	0.86909	0.2059	10	0.56958	D	0.05	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	987;981;1848	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	Q	1848;981	ENSP00000377047:E1848Q;ENSP00000410000:E981Q	ENSP00000377047:E1848Q	E	+	1	0	PTPRZ1	121466783	1.000000	0.71417	0.987000	0.45799	0.961000	0.63080	7.843000	0.86859	2.805000	0.96524	0.655000	0.94253	GAG		0.393	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		14	15	0	0	0	1	0	14	15				
AZIN1	51582	broad.mit.edu	37	8	103842123	103842123	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr8:103842123T>C	ENST00000337198.5	-	10	2109	c.946A>G	c.(946-948)Atg>Gtg	p.M316V	AZIN1_ENST00000347770.4_Missense_Mutation_p.M316V	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	316					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			CCATCATTCATATAATACATG	0.333																																						ENST00000337198.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9						c.(946-948)Atg>Gtg		antizyme inhibitor 1							110.0	113.0	112.0					8																	103842123		2203	4300	6503	SO:0001583	missense	51582				polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding	g.chr8:103842123T>C	AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"""ornithine decarboxylase 1-like"""	607909	"""ornithine decarboxylase antizyme inhibitor"""	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.946A>G	8.37:g.103842123T>C	ENSP00000337180:p.Met316Val					AZIN1_ENST00000347770.4_Missense_Mutation_p.M316V	p.M316V	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)		10	2109	-	Lung NSC(17;0.000143)|all_lung(17;0.000294)		316					A6NCD5|Q6IBQ7|Q96D20	Missense_Mutation	SNP	ENST00000337198.5	37	c.946A>G	CCDS6295.1	.	.	.	.	.	.	.	.	.	.	T	4.196	0.035076	0.08101	.	.	ENSG00000155096	ENST00000337198;ENST00000347770	T;T	0.34275	1.37;1.37	6.03	3.66	0.41972	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.073017	0.85682	D	0.000000	T	0.19565	0.0470	N	0.16037	0.36	0.53688	D	0.999971	B	0.10296	0.003	B	0.15052	0.012	T	0.05370	-1.0889	10	0.11794	T	0.64	-7.5595	10.7166	0.46015	0.0:0.1289:0.0:0.8711	.	316	O14977	AZIN1_HUMAN	V	316	ENSP00000337180:M316V;ENSP00000321507:M316V	ENSP00000337180:M316V	M	-	1	0	AZIN1	103911299	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	3.402000	0.52608	0.518000	0.28383	-0.410000	0.06199	ATG		0.333	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380133.1			34	94	0	0	0	1	0	34	94				
LRRK2	120892	broad.mit.edu	37	12	40734100	40734100	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr12:40734100C>G	ENST00000298910.7	+	41	6011	c.5953C>G	c.(5953-5955)Ctc>Gtc	p.L1985V		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1985	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.L1985F(1)|p.L1992F(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGGCAGATACCTCCACTCAGC	0.368																																						ENST00000298910.7																			2	Substitution - Missense(2)	p.L1985F(1)|p.L1992F(1)	lung(2)	NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(5953-5955)Ctc>Gtc		leucine-rich repeat kinase 2							193.0	180.0	185.0					12																	40734100		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40734100C>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5953C>G	12.37:g.40734100C>G	ENSP00000298910:p.Leu1985Val						p.L1985V	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			41	6011	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1985			Protein kinase.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.5953C>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117166	0.77323	.	.	ENSG00000188906	ENST00000298910	D	0.97279	-4.32	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	M	0.87758	2.905	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.99572	1.0971	10	0.72032	D	0.01	.	19.2913	0.94100	0.0:1.0:0.0:0.0	.	1985;1985	Q17RV3;Q5S007	.;LRRK2_HUMAN	V	1985	ENSP00000298910:L1985V	ENSP00000298910:L1985V	L	+	1	0	LRRK2	39020367	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.497000	0.60367	2.551000	0.86045	0.585000	0.79938	CTC		0.368	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		58	114	0	0	0	1	0	58	114				
IFI44	10561	broad.mit.edu	37	1	79120767	79120767	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:79120767G>A	ENST00000370747.4	+	4	648	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_5'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	188					response to virus (GO:0009615)	cytoplasm (GO:0005737)		p.R188Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						CAACAAATACGAATTCTGCTG	0.463																																						ENST00000370747.4																			1	Substitution - Missense(1)	p.R188Q(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(562-564)cGa>cAa		interferon-induced protein 44							110.0	104.0	106.0					1																	79120767		2203	4300	6503	SO:0001583	missense	10561				response to virus	cytoplasm		g.chr1:79120767G>A	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.563G>A	1.37:g.79120767G>A	ENSP00000359783:p.Arg188Gln					IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_5'UTR	p.R188Q	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN			4	648	+			188					B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	ENST00000370747.4	37	c.563G>A	CCDS688.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515782	0.27123	.	.	ENSG00000137965	ENST00000370747;ENST00000438486	T;T	0.36878	1.23;1.23	3.85	1.98	0.26296	.	0.197274	0.34362	N	0.004025	T	0.23806	0.0576	L	0.56396	1.775	0.80722	D	1	D;D	0.63046	0.992;0.985	P;B	0.48227	0.571;0.417	T	0.03534	-1.1027	10	0.56958	D	0.05	.	7.6537	0.28363	0.2051:0.0:0.7949:0.0	.	188;188	B7ZB11;Q8TCB0	.;IFI44_HUMAN	Q	188;64	ENSP00000359783:R188Q;ENSP00000399477:R64Q	ENSP00000359783:R188Q	R	+	2	0	IFI44	78893355	0.648000	0.27313	0.255000	0.24374	0.212000	0.24457	1.993000	0.40747	0.596000	0.29794	0.563000	0.77884	CGA		0.463	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		23	39	0	0	0	1	0	23	39				
MROH5	389690	broad.mit.edu	37	8	142517313	142517313	+	RNA	SNP	G	G	A	rs373357999		TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr8:142517313G>A	ENST00000430863.1	-	0	17					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CCTGTGGGCCGGCCCTGTCTA	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17589	0.0		0.0	False		,,,				2504	0.0					ENST00000430863.1																			0													maestro heat-like repeat family member 5																																						389690							g.chr8:142517313G>A			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142517313G>A								NM_207414.2	NP_997297.2					0	17	-									RNA	SNP	ENST00000430863.1	37																																																																																						0.622	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		9	31	0	0	0	1	0	9	31				
DNHD1	144132	broad.mit.edu	37	11	6520037	6520037	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:6520037G>A	ENST00000527990.2	+	1	592	c.592G>A	c.(592-594)Ggc>Agc	p.G198S	DNHD1_ENST00000254579.6_Missense_Mutation_p.G198S|DNHD1_ENST00000354685.3_Missense_Mutation_p.G198S			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	198					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCGCTGCCTGGGCATTGTTGG	0.592																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(592-594)Ggc>Agc		dynein heavy chain domain 1							117.0	107.0	111.0					11																	6520037		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6520037G>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.592G>A	11.37:g.6520037G>A	ENSP00000436180:p.Gly198Ser					DNHD1_ENST00000527990.2_Missense_Mutation_p.G198S|DNHD1_ENST00000354685.3_Missense_Mutation_p.G198S	p.G198S	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	3	1156	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	198					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.592G>A	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659073	0.88154	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.31769	1.48;2.37;1.48	5.33	5.33	0.75918	.	0.097537	0.46442	D	0.000288	T	0.45074	0.1324	L	0.32530	0.975	0.37402	D	0.912896	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	T	0.45234	-0.9275	10	0.42905	T	0.14	.	15.9293	0.79646	0.0:0.0:1.0:0.0	.	198;198	Q96M86;Q96M86-4	DNHD1_HUMAN;.	S	198	ENSP00000254579:G198S;ENSP00000346716:G198S;ENSP00000436180:G198S	ENSP00000254579:G198S	G	+	1	0	DNHD1	6476613	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	5.012000	0.64017	2.491000	0.84063	0.563000	0.77884	GGC		0.592	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		61	102	0	0	0	1	0	61	102				
COL6A6	131873	broad.mit.edu	37	3	130285695	130285695	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr3:130285695G>A	ENST00000358511.6	+	4	1463	c.1432G>A	c.(1432-1434)Gtt>Att	p.V478I	COL6A6_ENST00000453409.2_Missense_Mutation_p.V478I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	478	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGTTGGGGCCGTTCAGTATGC	0.498																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1432-1434)Gtt>Att		collagen, type VI, alpha 6							132.0	133.0	133.0					3																	130285695		1926	4114	6040	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130285695G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1432G>A	3.37:g.130285695G>A	ENSP00000351310:p.Val478Ile					COL6A6_ENST00000453409.2_Missense_Mutation_p.V478I	p.V478I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			4	1463	+			478			Nonhelical region.|VWFA 3.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1432G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731475	0.89390	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.84800	-1.9;-1.9	5.18	5.18	0.71444	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000052	D	0.90518	0.7029	L	0.49455	1.56	0.50467	D	0.999873	D	0.89917	1.0	D	0.87578	0.998	D	0.91033	0.4865	10	0.59425	D	0.04	.	18.2817	0.90101	0.0:0.0:1.0:0.0	.	478	A6NMZ7	CO6A6_HUMAN	I	478	ENSP00000351310:V478I;ENSP00000399236:V478I	ENSP00000351310:V478I	V	+	1	0	COL6A6	131768385	1.000000	0.71417	0.316000	0.25252	0.982000	0.71751	9.529000	0.98049	2.412000	0.81896	0.561000	0.74099	GTT		0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		4	162	0	0	0	1	0	4	162				
PAFAH1B2	5049	broad.mit.edu	37	11	117038340	117038340	+	Silent	SNP	C	C	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:117038340C>T	ENST00000527958.1	+	6	774	c.615C>T	c.(613-615)atC>atT	p.I205I	PAFAH1B2_ENST00000529887.2_Intron|PAFAH1B2_ENST00000530272.1_Intron|PAFAH1B2_ENST00000419197.2_Intron|PAFAH1B2_ENST00000526888.1_Intron	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	205					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|positive regulation of macroautophagy (GO:0016239)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		ATGCAAAGATCTGCAAACCCC	0.502			T	IGH@	MLCLS																																	ENST00000527958.1				Dom	yes		11	11q23	5049	T	"""platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"""			L	IGH@		MLCLS		0				kidney(1)	1						c.(613-615)atC>atT		platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)							83.0	70.0	74.0					11																	117038340		2201	4296	6497	SO:0001819	synonymous_variant	5049				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity	g.chr11:117038340C>T	D63390	CCDS8380.1, CCDS53713.1, CCDS53714.1, CCDS53715.1	11q23	2011-10-24	2010-02-10			ENSG00000168092			8575	protein-coding gene	gene with protein product	"""PAF-AH1b alpha 2 subunit"""	602508	"""platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)"""			9144386, 9693049	Standard	NM_002572		Approved		uc001pqe.2	P68402		ENST00000527958.1:c.615C>T	11.37:g.117038340C>T						PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000419197.2_Intron|PAFAH1B2_ENST00000529887.2_Intron|PAFAH1B2_ENST00000530272.1_Intron	p.I205I	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)	6	774	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)	205					A8DPS5|A8DPS6|A8DPS7|E9PEJ5|E9PLP3|O00687|Q29459|Q6IBR6	Silent	SNP	ENST00000527958.1	37	c.615C>T	CCDS8380.1																																																																																				0.502	PAFAH1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392826.1	NM_002572		5	23	0	0	0	1	0	5	23				
TNPO2	30000	broad.mit.edu	37	19	12821510	12821510	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr19:12821510G>A	ENST00000592287.1	-	12	1303	c.1195C>T	c.(1195-1197)Ctc>Ttc	p.L399F	TNPO2_ENST00000356861.5_Missense_Mutation_p.L399F|TNPO2_ENST00000425528.1_Missense_Mutation_p.L399F|TNPO2_ENST00000441499.1_Missense_Mutation_p.L399F|TNPO2_ENST00000450764.2_Missense_Mutation_p.L399F|TNPO2_ENST00000588216.1_Missense_Mutation_p.L399F|TNPO2_ENST00000589956.1_5'Flank	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	399				LLKG -> YQS (in Ref. 1; AAB83973). {ECO:0000305}.	intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGCCTTTGAGTAGTGGGAGT	0.637																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1195-1197)Ctc>Ttc		transportin 2							41.0	48.0	46.0					19																	12821510		2109	4218	6327	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12821510G>A	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1195C>T	19.37:g.12821510G>A	ENSP00000468434:p.Leu399Phe					TNPO2_ENST00000450764.2_Missense_Mutation_p.L399F|TNPO2_ENST00000441499.1_Missense_Mutation_p.L399F|TNPO2_ENST00000588216.1_Missense_Mutation_p.L399F|TNPO2_ENST00000592287.1_Missense_Mutation_p.L399F|TNPO2_ENST00000356861.5_Missense_Mutation_p.L399F	p.L399F			O14787	TNPO2_HUMAN			13	1552	-			399	LLKG -> YQS (in Ref. 1; AAB83973).				O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.1195C>T	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474147	0.84640	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.18	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90082	0.6902	H	0.94264	3.515	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.76575	0.988;0.939	D	0.92879	0.6321	10	0.87932	D	0	-0.6306	17.4592	0.87615	0.0:0.0:1.0:0.0	.	563;399	Q4LE60;O14787	.;TNPO2_HUMAN	F	563;399;399;399;399;399;399	ENSP00000407182:L399F;ENSP00000389648:L399F;ENSP00000397379:L399F;ENSP00000349321:L399F	ENSP00000349321:L399F	L	-	1	0	TNPO2	12682510	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	3.775000	0.55349	2.406000	0.81754	0.561000	0.74099	CTC		0.637	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		11	18	0	0	0	1	0	11	18				
PLA2R1	22925	broad.mit.edu	37	2	160826660	160826660	+	Splice_Site	SNP	G	G	A	rs113304621	byFrequency	TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr2:160826660G>A	ENST00000283243.7	-	18	2865	c.2659C>T	c.(2659-2661)Cgc>Tgc	p.R887C	PLA2R1_ENST00000392771.1_Splice_Site_p.R887C	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	887	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.R887C(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGTTCATACCGAAATTCATCA	0.318																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	1	Substitution - Missense(1)	p.R887C(1)	skin(1)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.e18+1		phospholipase A2 receptor 1, 180kDa		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4404		0,0,2202	109.0	115.0	113.0		2659,2659,2659	4.0	1.0	2	dbSNP_132	113	5,8591	4.3+/-15.6	0,5,4293	yes	missense-near-splice,missense-near-splice,missense-near-splice	PLA2R1	NM_001007267.2,NM_001195641.1,NM_007366.4	180,180,180	0,5,6495	AA,AG,GG		0.0582,0.0,0.0385	benign,benign,benign	887/1325,887/1462,887/1464	160826660	5,12995	2202	4298	6500	SO:0001630	splice_region_variant	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160826660G>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2660+1C>T	2.37:g.160826660G>A						PLA2R1_ENST00000392771.1_Splice_Site_p.R887_splice	p.R887_splice	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			18	2865	-			887			C-type lectin 5.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Splice_Site	SNP	ENST00000283243.7	37	c.2660_splice	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614976	0.46631	0.0	5.82E-4	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.08546	3.08;3.08	5.83	4.03	0.46877	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.418838	0.26586	N	0.023552	T	0.10809	0.0264	M	0.72353	2.195	0.45899	D	0.998749	B;B;B	0.26041	0.064;0.14;0.068	B;B;B	0.19148	0.022;0.024;0.019	T	0.03597	-1.1021	10	0.44086	T	0.13	.	9.5692	0.39418	0.1637:0.0:0.8363:0.0	.	887;887;887	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	C	887	ENSP00000283243:R887C;ENSP00000376524:R887C	ENSP00000283243:R887C	R	-	1	0	PLA2R1	160534906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.789000	0.38724	1.463000	0.47967	0.585000	0.79938	CGC		0.318	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		Missense_Mutation	10	31	0	0	0	1	0	10	31				
ZSCAN10	84891	broad.mit.edu	37	16	3140535	3140535	+	Silent	SNP	C	C	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr16:3140535C>T	ENST00000252463.2	-	5	822	c.735G>A	c.(733-735)ccG>ccA	p.P245P	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Silent_p.P163P	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	245					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AAGGCTCTCCCGGCACCCCAG	0.602																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(733-735)ccG>ccA		zinc finger and SCAN domain containing 10							41.0	46.0	44.0					16																	3140535		2196	4296	6492	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140535C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.735G>A	16.37:g.3140535C>T						ZSCAN10_ENST00000538082.2_Silent_p.P163P|ZSCAN10_ENST00000575108.1_5'UTR	p.P245P	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	822	-			245					B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.735G>A	CCDS10493.1																																																																																				0.602	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		42	87	0	0	0	1	0	42	87				
TRAF3IP3	80342	broad.mit.edu	37	1	209933614	209933614	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:209933614G>A	ENST00000367024.1	+	3	746	c.230G>A	c.(229-231)gGc>gAc	p.G77D	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.G77D|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.G77D|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.G77D|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.G77D			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	77						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GAGGAGAAGGGCAAAGCGCAG	0.597																																						ENST00000367024.1																			0				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(229-231)gGc>gAc		TRAF3 interacting protein 3							37.0	40.0	39.0					1																	209933614		2203	4300	6503	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209933614G>A		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.230G>A	1.37:g.209933614G>A	ENSP00000355991:p.Gly77Asp					TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.G77D|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.G77D|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.G77D|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.G77D	p.G77D			Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	3	746	+			77					A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.230G>A	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	G	8.974	0.973742	0.18736	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.51574	0.7;0.95;0.89;0.95;0.89	5.08	2.2	0.27929	.	1.184050	0.05887	N	0.627616	T	0.43986	0.1272	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.15930	0.002;0.001;0.015;0.001	B;B;B;B	0.15484	0.009;0.002;0.013;0.002	T	0.37549	-0.9701	10	0.54805	T	0.06	-1.963	6.4114	0.21692	0.2984:0.0:0.7016:0.0	.	77;77;77;77	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	D	77;77;60;77;77;77	ENSP00000383743:G77D;ENSP00000355992:G77D;ENSP00000355993:G77D;ENSP00000355991:G77D;ENSP00000010338:G77D	ENSP00000010338:G77D	G	+	2	0	TRAF3IP3	208000237	0.006000	0.16342	0.182000	0.23118	0.017000	0.09413	1.219000	0.32479	0.548000	0.28955	-0.379000	0.06801	GGC		0.597	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			3	38	0	0	0	1	0	3	38				
EIF4A1	1973	broad.mit.edu	37	17	7476054	7476054	+	5'Flank	SNP	C	C	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr17:7476054C>T	ENST00000293831.8	+	0	0				EIF4A1_ENST00000577269.1_5'Flank|EIF4A1_ENST00000380512.5_5'Flank|SNORA48_ENST00000386847.1_RNA|EIF4A1_ENST00000582746.1_5'Flank|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1						cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TTGCTGAGCGCCGGCAGGCGG	0.647																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000579777.1																			0																																																	SO:0001631	upstream_gene_variant	100533955							g.chr17:7476054C>T	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149		17.37:g.7476054C>T	Exception_encountered							NR_037926.1						0	1965	+								B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	RNA	SNP	ENST00000293831.8	37		CCDS11113.1																																																																																				0.647	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		10	21	0	0	0	1	0	10	21				
WWC2	80014	broad.mit.edu	37	4	184166648	184166648	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr4:184166648A>G	ENST00000403733.3	+	6	881	c.682A>G	c.(682-684)Atc>Gtc	p.I228V	WWC2_ENST00000448232.2_Missense_Mutation_p.I228V|WWC2_ENST00000513834.1_Missense_Mutation_p.I228V|WWC2_ENST00000378925.3_Missense_Mutation_p.I130V|WWC2_ENST00000504005.1_Intron	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	228					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		ACTAAAATCTATCAGAAAGGC	0.373																																						ENST00000403733.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(682-684)Atc>Gtc		WW and C2 domain containing 2							47.0	48.0	48.0					4																	184166648		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184166648A>G	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.682A>G	4.37:g.184166648A>G	ENSP00000384222:p.Ile228Val					WWC2_ENST00000504005.1_Intron|WWC2_ENST00000513834.1_Missense_Mutation_p.I228V|WWC2_ENST00000448232.2_Missense_Mutation_p.I228V|WWC2_ENST00000378925.3_Missense_Mutation_p.I130V	p.I228V	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	6	881	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	228					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.682A>G	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	A	24.5	4.539375	0.85917	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232	T;T;T;T	0.15603	3.25;2.41;3.32;3.11	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	T	0.36220	0.0959	L	0.58354	1.805	0.52099	D	0.999945	D	0.64830	0.994	D	0.72625	0.978	T	0.02983	-1.1086	10	0.25106	T	0.35	-21.713	15.3161	0.74078	1.0:0.0:0.0:0.0	.	228	Q6AWC2	WWC2_HUMAN	V	228;130;228;228	ENSP00000384222:I228V;ENSP00000368205:I130V;ENSP00000425054:I228V;ENSP00000398577:I228V	ENSP00000368205:I130V	I	+	1	0	WWC2	184403642	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.856000	0.92245	2.254000	0.74563	0.533000	0.62120	ATC		0.373	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		7	10	0	0	0	1	0	7	10				
MYT1L	23040	broad.mit.edu	37	2	1926541	1926541	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr2:1926541A>C	ENST00000399161.2	-	10	1747	c.1000T>G	c.(1000-1002)Tgc>Ggc	p.C334G	MYT1L_ENST00000428368.2_Missense_Mutation_p.C334G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	334					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGGTCGAAGCACTGATTCCTC	0.547																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1000-1002)Tgc>Ggc		myelin transcription factor 1-like							78.0	84.0	82.0					2																	1926541		2152	4251	6403	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926541A>C	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1000T>G	2.37:g.1926541A>C	ENSP00000382114:p.Cys334Gly					MYT1L_ENST00000428368.2_Missense_Mutation_p.C334G	p.C334G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1747	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	334					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1000T>G		.	.	.	.	.	.	.	.	.	.	A	21.7	4.187079	0.78789	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.58797	0.31;0.31	5.75	5.75	0.90469	.	0.106389	0.64402	D	0.000003	T	0.64832	0.2634	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.83275	0.979;0.996	T	0.58951	-0.7545	10	0.13853	T	0.58	-32.9758	16.0545	0.80788	1.0:0.0:0.0:0.0	.	334;334	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	G	334;282;334	ENSP00000382114:C334G;ENSP00000396103:C334G	ENSP00000295067:C282G	C	-	1	0	MYT1L	1905548	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.176000	0.94839	2.195000	0.70347	0.533000	0.62120	TGC		0.547	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		25	43	0	0	0	1	0	25	43				
TMPRSS15	5651	broad.mit.edu	37	21	19666724	19666724	+	Silent	SNP	T	T	C			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr21:19666724T>C	ENST00000284885.3	-	21	2382	c.2349A>G	c.(2347-2349)ccA>ccG	p.P783P		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	783						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CAACAATCTTTGGGGTGATGT	0.463																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2347-2349)ccA>ccG		transmembrane protease, serine 15							107.0	117.0	113.0					21																	19666724		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666724T>C		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2349A>G	21.37:g.19666724T>C							p.P783P	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			21	2382	-			783					Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.2349A>G	CCDS13571.1																																																																																				0.463	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		67	132	0	0	0	1	0	67	132				
ACSM1	116285	broad.mit.edu	37	16	20693611	20693611	+	Missense_Mutation	SNP	C	C	T	rs146861278	byFrequency	TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr16:20693611C>T	ENST00000307493.4	-	3	645	c.578G>A	c.(577-579)cGt>cAt	p.R193H	ACSM1_ENST00000520010.1_Missense_Mutation_p.R193H|ACSM1_ENST00000219151.4_De_novo_Start_OutOfFrame	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	193					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCACCCTTCACGGCTGTGATC	0.493																																						ENST00000219151.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42								acyl-CoA synthetase medium-chain family member 1							72.0	67.0	69.0					16																	20693611		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20693611C>T	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.578G>A	16.37:g.20693611C>T	ENSP00000301956:p.Arg193His					ACSM1_ENST00000520010.1_Missense_Mutation_p.R193H|ACSM1_ENST00000307493.4_Missense_Mutation_p.R193H				Q08AH1	ACSM1_HUMAN			0	645	-								Q08AH2|Q96A20	Translation_Start_Site	SNP	ENST00000307493.4	37		CCDS10587.1	.	.	.	.	.	.	.	.	.	.	C	9.354	1.066236	0.20067	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	T;T	0.43688	0.94;0.94	4.91	1.74	0.24563	AMP-dependent synthetase/ligase (1);	0.279042	0.24409	N	0.038771	T	0.26011	0.0634	N	0.21545	0.675	0.19775	N	0.999959	B	0.22211	0.066	B	0.20184	0.028	T	0.17410	-1.0370	10	0.52906	T	0.07	.	7.7776	0.29046	0.1317:0.7237:0.0:0.1446	.	193	Q08AH1	ACSM1_HUMAN	H	193	ENSP00000301956:R193H;ENSP00000428047:R193H	ENSP00000301956:R193H	R	-	2	0	ACSM1	20601112	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	0.006000	0.13152	0.314000	0.23086	0.603000	0.83216	CGT		0.493	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		16	47	0	0	0	1	0	16	47				
ELTD1	64123	broad.mit.edu	37	1	79392614	79392614	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:79392614A>G	ENST00000370742.3	-	8	1103	c.1040T>C	c.(1039-1041)tTa>tCa	p.L347S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	347					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AAGTTCATATAATGTGGGTGG	0.333																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(1039-1041)tTa>tCa		EGF, latrophilin and seven transmembrane domain containing 1							116.0	108.0	110.0					1																	79392614		1846	4090	5936	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79392614A>G	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1040T>C	1.37:g.79392614A>G	ENSP00000359778:p.Leu347Ser						p.L347S	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	8	1103	-			347					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1040T>C	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	A	9.772	1.172831	0.21704	.	.	ENSG00000162618	ENST00000370742	T	0.39056	1.1	6.02	6.02	0.97574	.	0.600559	0.16834	N	0.197626	T	0.19127	0.0459	L	0.38953	1.18	0.21967	N	0.999441	B	0.13594	0.008	B	0.12156	0.007	T	0.06373	-1.0830	9	.	.	.	.	16.5386	0.84378	1.0:0.0:0.0:0.0	.	347	Q9HBW9	ELTD1_HUMAN	S	347	ENSP00000359778:L347S	.	L	-	2	0	ELTD1	79165202	0.491000	0.26019	0.038000	0.18304	0.108000	0.19459	6.308000	0.72820	2.306000	0.77630	0.445000	0.29226	TTA		0.333	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		18	38	0	0	0	1	0	18	38				
ZXDC	79364	broad.mit.edu	37	3	126180392	126180392	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr3:126180392C>T	ENST00000389709.3	-	6	2166	c.2113G>A	c.(2113-2115)Ggc>Agc	p.G705S	ZXDC_ENST00000336332.5_Missense_Mutation_p.G705S	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	705					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TAGAAGTTGCCAGTGCCTGCA	0.517																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(2113-2115)Ggc>Agc		ZXD family zinc finger C							48.0	51.0	50.0					3																	126180392		2052	4217	6269	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126180392C>T	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.2113G>A	3.37:g.126180392C>T	ENSP00000374359:p.Gly705Ser					ZXDC_ENST00000336332.5_Missense_Mutation_p.G705S	p.G705S	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	6	2166	-			705					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.2113G>A	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	C	9.449	1.090170	0.20390	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.12774	3.05;2.65	5.12	3.33	0.38152	.	0.315023	0.33959	N	0.004386	T	0.09247	0.0228	N	0.24115	0.695	0.09310	N	1	B;B	0.22909	0.077;0.025	B;B	0.19391	0.025;0.008	T	0.25012	-1.0144	10	0.40728	T	0.16	-8.881	9.7591	0.40522	0.0:0.8281:0.0:0.1719	.	705;705	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	S	705	ENSP00000374359:G705S;ENSP00000337694:G705S	ENSP00000337694:G705S	G	-	1	0	ZXDC	127663082	0.124000	0.22315	0.008000	0.14137	0.442000	0.32017	0.377000	0.20552	0.657000	0.30906	-0.216000	0.12614	GGC		0.517	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		15	30	0	0	0	1	0	15	30				
FNBP4	23360	broad.mit.edu	37	11	47753078	47753078	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:47753078G>T	ENST00000263773.5	-	12	1868	c.1856C>A	c.(1855-1857)tCg>tAg	p.S619*	FNBP4_ENST00000534003.1_5'Flank	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	619	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.					nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AGACTCGCCCGACTGTTCGTT	0.408																																						ENST00000263773.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(1855-1857)tCg>tAg		formin binding protein 4							130.0	119.0	122.0					11																	47753078		1856	4110	5966	SO:0001587	stop_gained	23360							g.chr11:47753078G>T	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1856C>A	11.37:g.47753078G>T	ENSP00000263773:p.Ser619*						p.S619*	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			12	1868	-			619			WW 2.		Q9H985|Q9NT81|Q9Y2L7	Nonsense_Mutation	SNP	ENST00000263773.5	37	c.1856C>A	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	37	6.336554	0.97485	.	.	ENSG00000109920	ENST00000263773	.	.	.	6.03	6.03	0.97812	.	0.120045	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0762	20.5568	0.99304	0.0:0.0:1.0:0.0	.	.	.	.	X	619	.	ENSP00000263773:S619X	S	-	2	0	FNBP4	47709654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.696000	0.84270	2.861000	0.98227	0.655000	0.94253	TCG		0.408	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			40	78	1	0	3.38236e-24	1	3.82353e-24	40	78				
OR5AS1	219447	broad.mit.edu	37	11	55798044	55798044	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:55798044T>A	ENST00000313555.1	+	1	150	c.150T>A	c.(148-150)aaT>aaA	p.N50K		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TTCTAGTTAATATTAATTCAA	0.333																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(148-150)aaT>aaA		olfactory receptor, family 5, subfamily AS, member 1							51.0	56.0	54.0					11																	55798044		2201	4295	6496	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798044T>A	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.150T>A	11.37:g.55798044T>A	ENSP00000324111:p.Asn50Lys						p.N50K	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	150	+	Esophageal squamous(21;0.00693)		50					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.150T>A	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	T	1.058	-0.673782	0.03403	.	.	ENSG00000181785	ENST00000313555	T	0.01068	5.38	5.63	-2.95	0.05564	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37178	U	0.002205	T	0.00356	0.0011	N	0.00599	-1.345	0.09310	N	1	B	0.30406	0.278	B	0.24974	0.057	T	0.49011	-0.8983	10	0.20046	T	0.44	.	6.9041	0.24299	0.0:0.3052:0.3859:0.3089	.	50	Q8N127	O5AS1_HUMAN	K	50	ENSP00000324111:N50K	ENSP00000324111:N50K	N	+	3	2	OR5AS1	55554620	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-0.964000	0.03833	-0.432000	0.07297	0.523000	0.50628	AAT		0.333	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		10	23	0	0	0	1	0	10	23				
OR2H1	26716	broad.mit.edu	37	6	29429615	29429615	+	Silent	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr6:29429615G>A	ENST00000377136.1	+	4	534	c.69G>A	c.(67-69)agG>agA	p.R23R	OR2H1_ENST00000377132.1_Silent_p.R23R|OR2H1_ENST00000473369.1_Intron|OR2H1_ENST00000377133.1_Silent_p.R23R|OR2H1_ENST00000396792.2_Silent_p.R23R|OR2H1_ENST00000442615.1_Silent_p.R23R			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						CACTGGAAAGGACTCTCTTTG	0.532																																						ENST00000377136.1																			0				large_intestine(5)|lung(12)	17						c.(67-69)agG>agA		olfactory receptor, family 2, subfamily H, member 1							209.0	207.0	208.0					6																	29429615		1511	2709	4220	SO:0001819	synonymous_variant	26716				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29429615G>A	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.69G>A	6.37:g.29429615G>A						OR2H1_ENST00000473369.1_Intron|OR2H1_ENST00000442615.1_Silent_p.R23R|OR2H1_ENST00000377133.1_Silent_p.R23R|OR2H1_ENST00000377132.1_Silent_p.R23R|OR2H1_ENST00000396792.2_Silent_p.R23R	p.R23R			Q9GZK4	OR2H1_HUMAN			4	534	+			23					B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Silent	SNP	ENST00000377136.1	37	c.69G>A	CCDS4660.1																																																																																				0.532	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			47	102	0	0	0	1	0	47	102				
USP17L2	377630	broad.mit.edu	37	8	11995582	11995582	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr8:11995582C>A	ENST00000333796.3	-	1	1004	c.688G>T	c.(688-690)Gct>Tct	p.A230S	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	230	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						ACACTCTGAGCTGCCTGGATA	0.522																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(688-690)Gct>Tct		ubiquitin specific peptidase 17-like family member 2							1.0	1.0	1.0					8																	11995582		372	1017	1389	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995582C>A	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.688G>T	8.37:g.11995582C>A	ENSP00000333329:p.Ala230Ser					FAM66D_ENST00000434078.2_RNA	p.A230S	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	1004	-			230						Missense_Mutation	SNP	ENST00000333796.3	37	c.688G>T	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020363	0.35606	.	.	ENSG00000223443	ENST00000333796	T	0.05447	3.44	0.935	0.935	0.19483	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000003	T	0.09113	0.0225	L	0.53729	1.69	0.21967	N	0.999446	B	0.29188	0.236	B	0.41174	0.349	T	0.19031	-1.0318	10	0.87932	D	0	.	5.3448	0.16004	0.0:1.0:0.0:0.0	.	230	Q6R6M4	U17L2_HUMAN	S	230	ENSP00000333329:A230S	ENSP00000333329:A230S	A	-	1	0	USP17L2	12032991	0.320000	0.24616	0.005000	0.12908	0.019000	0.09904	0.642000	0.24735	0.878000	0.35920	0.472000	0.43445	GCT		0.522	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		17	51	1	0	2.35188e-11	1	2.59106e-11	17	51				
RNF214	257160	broad.mit.edu	37	11	117117602	117117602	+	Silent	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:117117602G>A	ENST00000531452.1	+	6	943	c.897G>A	c.(895-897)gaG>gaA	p.E299E	RNF214_ENST00000530849.1_Silent_p.E144E|RNF214_ENST00000300650.4_Silent_p.E299E|RNF214_ENST00000531287.1_Silent_p.E144E	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	299							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AGAAGAAGGAGTTTTTGCAGA	0.388																																						ENST00000530849.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(430-432)gaG>gaA		ring finger protein 214							198.0	196.0	197.0					11																	117117602		1864	4108	5972	SO:0001819	synonymous_variant	257160						zinc ion binding	g.chr11:117117602G>A	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.897G>A	11.37:g.117117602G>A						RNF214_ENST00000531452.1_Silent_p.E299E|RNF214_ENST00000300650.4_Silent_p.E299E|RNF214_ENST00000531287.1_Silent_p.E144E	p.E144E			Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	5	442	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	299					B2RUW0|B4DTD1	Silent	SNP	ENST00000531452.1	37	c.432G>A	CCDS41720.1																																																																																				0.388	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		43	82	0	0	0	1	0	43	82				
CAMK2D	817	broad.mit.edu	37	4	114436283	114436283	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr4:114436283G>C	ENST00000342666.5	-	10	760	c.761C>G	c.(760-762)aCt>aGt	p.T254S	CAMK2D_ENST00000508738.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000505990.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000394522.3_Missense_Mutation_p.T254S|CAMK2D_ENST00000515496.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000514328.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000429180.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000296402.5_Missense_Mutation_p.T254S|CAMK2D_ENST00000511664.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000418639.2_Missense_Mutation_p.T254S|CAMK2D_ENST00000394526.2_Missense_Mutation_p.T254S|CAMK2D_ENST00000379773.2_Missense_Mutation_p.T254S|CAMK2D_ENST00000454265.2_Missense_Mutation_p.T254S|CAMK2D_ENST00000394524.3_Missense_Mutation_p.T254S			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		AGGGTTGATAGTAAGCATTTT	0.368																																						ENST00000454265.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13						c.(760-762)aCt>aGt		calcium/calmodulin-dependent protein kinase II delta							178.0	171.0	173.0					4																	114436283		2203	4300	6503	SO:0001583	missense	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114436283G>C	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.761C>G	4.37:g.114436283G>C	ENSP00000339740:p.Thr254Ser					CAMK2D_ENST00000429180.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000394526.2_Missense_Mutation_p.T254S|CAMK2D_ENST00000342666.5_Missense_Mutation_p.T254S|CAMK2D_ENST00000394522.3_Missense_Mutation_p.T254S|CAMK2D_ENST00000508738.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000418639.2_Missense_Mutation_p.T254S|CAMK2D_ENST00000511664.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000515496.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000505990.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000379773.2_Missense_Mutation_p.T254S|CAMK2D_ENST00000296402.5_Missense_Mutation_p.T254S|CAMK2D_ENST00000394524.3_Missense_Mutation_p.T254S|CAMK2D_ENST00000514328.1_Missense_Mutation_p.T254S	p.T254S			Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	10	1619	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	254			Protein kinase.		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	c.761C>G	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353473	0.82243	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738;ENST00000509594	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	N	0.25245	0.725	0.80722	D	1	P;D;D;B;D	0.71674	0.702;0.997;0.997;0.076;0.998	B;D;D;B;D	0.76575	0.259;0.988;0.988;0.041;0.986	T	0.72606	-0.4242	10	0.62326	D	0.03	.	20.2504	0.98404	0.0:0.0:1.0:0.0	.	254;254;254;254;254	E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557	.;.;.;.;KCC2D_HUMAN	S	254;254;254;254;254;254;254;254;254;254;254;254;254;254;49	ENSP00000378032:T254S;ENSP00000415248:T254S;ENSP00000415707:T254S;ENSP00000406131:T254S;ENSP00000378034:T254S;ENSP00000296402:T254S;ENSP00000425824:T254S;ENSP00000339740:T254S;ENSP00000423482:T254S;ENSP00000423677:T254S;ENSP00000378030:T254S;ENSP00000424245:T254S;ENSP00000369098:T254S;ENSP00000422566:T254S;ENSP00000423753:T49S	ENSP00000296402:T254S	T	-	2	0	CAMK2D	114655732	1.000000	0.71417	0.918000	0.36340	0.992000	0.81027	9.771000	0.98977	2.850000	0.98022	0.650000	0.86243	ACT		0.368	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			28	123	0	0	0	1	0	28	123				
RBM43	375287	broad.mit.edu	37	2	152107874	152107874	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr2:152107874C>T	ENST00000331426.5	-	4	771	c.620G>A	c.(619-621)aGg>aAg	p.R207K		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	207							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TACTAAGGTCCTGACTGATGC	0.393																																						ENST00000331426.5																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.(619-621)aGg>aAg		RNA binding motif protein 43							132.0	131.0	131.0					2																	152107874		2203	4300	6503	SO:0001583	missense	375287						nucleotide binding|RNA binding	g.chr2:152107874C>T	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.620G>A	2.37:g.152107874C>T	ENSP00000331211:p.Arg207Lys						p.R207K	NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	4	771	-			207					B2RMT5	Missense_Mutation	SNP	ENST00000331426.5	37	c.620G>A	CCDS2191.1	.	.	.	.	.	.	.	.	.	.	C	2.654	-0.281280	0.05642	.	.	ENSG00000184898	ENST00000331426	T	0.45668	0.89	5.48	2.43	0.29744	.	0.505598	0.19733	N	0.107301	T	0.21307	0.0513	N	0.24115	0.695	0.09310	N	0.999998	B	0.28783	0.222	B	0.30572	0.117	T	0.27806	-1.0063	10	0.02654	T	1	-1.8861	5.693	0.17841	0.0:0.6103:0.16:0.2297	.	207	Q6ZSC3	RBM43_HUMAN	K	207	ENSP00000331211:R207K	ENSP00000331211:R207K	R	-	2	0	RBM43	151816120	0.001000	0.12720	0.004000	0.12327	0.075000	0.17131	0.609000	0.24238	0.826000	0.34661	0.655000	0.94253	AGG		0.393	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557		23	40	0	0	0	1	0	23	40				
PUM1	9698	broad.mit.edu	37	1	31454214	31454214	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:31454214C>G	ENST00000257075.5	-	8	1290	c.1197G>C	c.(1195-1197)ttG>ttC	p.L399F	PUM1_ENST00000373741.4_Missense_Mutation_p.L435F|PUM1_ENST00000373747.3_Missense_Mutation_p.L399F|PUM1_ENST00000440538.2_Missense_Mutation_p.L399F|PUM1_ENST00000423018.2_Missense_Mutation_p.L303F|PUM1_ENST00000424085.2_Missense_Mutation_p.L157F|PUM1_ENST00000373742.2_Missense_Mutation_p.L339F|PUM1_ENST00000426105.2_Missense_Mutation_p.L399F|PUM1_ENST00000490546.1_5'Flank	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	399	Ala-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GAGCAGCTGTCAACTGCTGGA	0.498																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1195-1197)ttG>ttC		pumilio RNA-binding family member 1							63.0	57.0	59.0					1																	31454214		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31454214C>G	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1197G>C	1.37:g.31454214C>G	ENSP00000257075:p.Leu399Phe					PUM1_ENST00000440538.2_Missense_Mutation_p.L399F|PUM1_ENST00000426105.2_Missense_Mutation_p.L399F|PUM1_ENST00000423018.2_Missense_Mutation_p.L303F|PUM1_ENST00000257075.5_Missense_Mutation_p.L399F|PUM1_ENST00000424085.2_Missense_Mutation_p.L157F|PUM1_ENST00000373742.2_Missense_Mutation_p.L339F|PUM1_ENST00000373741.4_Missense_Mutation_p.L435F	p.L399F	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	8	1296	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	399			Ala-rich.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.1197G>C	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.71|14.71	2.617720|2.617720	0.46736|0.46736	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000525843;ENST00000498419;ENST00000532678|ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952	.|T;T;T;T;T;T;T;T	.|0.26957	.|1.98;1.71;1.95;1.95;1.88;1.93;1.7;1.79	5.71|5.71	3.68|3.68	0.42216|0.42216	.|.	.|0.064948	.|0.56097	.|D	.|0.000022	T|T	0.40423|0.40423	0.1116|0.1116	L|L	0.41492|0.41492	1.28|1.28	0.58432|0.58432	D|D	0.999997|0.999997	.|B;D;B;D;B;B;B;B	.|0.69078	.|0.09;0.995;0.09;0.997;0.09;0.09;0.09;0.167	.|B;D;B;D;B;B;B;B	.|0.75484	.|0.026;0.969;0.063;0.986;0.026;0.063;0.026;0.112	T|T	0.32348|0.32348	-0.9910|-0.9910	5|10	.|0.87932	.|D	.|0	-2.8435|-2.8435	12.9731|12.9731	0.58524|0.58524	0.0:0.7025:0.231:0.0665|0.0:0.7025:0.231:0.0665	.|.	.|339;303;435;399;399;399;399;399	.|B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.|.;.;.;.;PUM1_HUMAN;.;.;.	H|F	416;106;121|157;399;399;137;399;399;435;303;339;399	.|ENSP00000400141:L157F;ENSP00000257075:L399F;ENSP00000362852:L399F;ENSP00000391723:L399F;ENSP00000401777:L399F;ENSP00000362846:L435F;ENSP00000399440:L303F;ENSP00000362847:L339F	.|ENSP00000257075:L399F	D|L	-|-	1|3	0|2	PUM1|PUM1	31226801|31226801	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.410000|0.410000	0.21098|0.21098	1.374000|1.374000	0.46228|0.46228	0.655000|0.655000	0.94253|0.94253	GAC|TTG		0.498	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			19	31	0	0	0	1	0	19	31				
LILRP2	79166	broad.mit.edu	37	19	55222088	55222088	+	RNA	SNP	T	T	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr19:55222088T>A	ENST00000413439.1	+	0	1615									leukocyte immunoglobulin-like receptor pseudogene 2																		CCATGAGTCCTGTGACCTCAG	0.602																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			79166							g.chr19:55222088T>A	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55222088T>A														0	1615	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.602	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		8	21	0	0	0	1	0	8	21				
HIVEP3	59269	broad.mit.edu	37	1	42047649	42047649	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:42047649C>A	ENST00000372583.1	-	4	3705	c.2820G>T	c.(2818-2820)ttG>ttT	p.L940F	HIVEP3_ENST00000372584.1_Missense_Mutation_p.L940F|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L940F|HIVEP3_ENST00000429157.2_Missense_Mutation_p.L940F|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	940	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.|Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGACCCACTCAAAGAGACAT	0.622																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(2818-2820)ttG>ttT		human immunodeficiency virus type I enhancer binding protein 3							70.0	75.0	73.0					1																	42047649		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047649C>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2820G>T	1.37:g.42047649C>A	ENSP00000361664:p.Leu940Phe					HIVEP3_ENST00000429157.2_Missense_Mutation_p.L940F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.L940F|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L940F	p.L940F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	3834	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	940			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.2820G>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137440	0.37728	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.05925	3.38;3.37;3.37;3.38	4.5	0.164	0.14990	.	0.495543	0.15157	N	0.277355	T	0.03520	0.0101	N	0.22421	0.69	0.28192	N	0.927711	P;P	0.44429	0.835;0.745	B;B	0.42087	0.375;0.207	T	0.31110	-0.9955	10	0.09843	T	0.71	-1.4964	3.9662	0.09433	0.0:0.5166:0.1778:0.3057	.	940;940	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	F	940	ENSP00000361665:L940F;ENSP00000361664:L940F;ENSP00000247584:L940F;ENSP00000410828:L940F	ENSP00000247584:L940F	L	-	3	2	HIVEP3	41820236	0.990000	0.36364	0.994000	0.49952	0.693000	0.40251	-0.159000	0.10056	0.236000	0.21180	0.462000	0.41574	TTG		0.622	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		13	198	1	0	3.27435e-08	1	3.4607e-08	13	198				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	284802							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	124	0	0	0	1	0	5	124				
CAPRIN2	65981	broad.mit.edu	37	12	30881830	30881830	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr12:30881830G>A	ENST00000395805.2	-	8	2081	c.1534C>T	c.(1534-1536)Cca>Tca	p.P512S	CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P512S|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P179S|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P512S|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.P512S	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAAGACTTTGGAGTTTGCTTC	0.473																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(1534-1536)Cca>Tca		caprin family member 2							177.0	166.0	170.0					12																	30881830		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30881830G>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1534C>T	12.37:g.30881830G>A	ENSP00000379150:p.Pro512Ser					CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P179S|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P512S|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P512S|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.P512S|CAPRIN2_ENST00000538387.1_5'UTR	p.P512S	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			8	2284	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		512						Missense_Mutation	SNP	ENST00000395805.2	37	c.1534C>T	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573160	0.28092	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T;T	0.74632	2.48;-0.59;2.9;-0.56;-0.86;2.89;2.5	4.93	0.691	0.18045	.	0.511250	0.20705	N	0.087184	T	0.51652	0.1687	N	0.19112	0.55	0.09310	N	0.999999	B;B;B;B;B;B;B	0.11235	0.004;0.001;0.003;0.002;0.0;0.0;0.0	B;B;B;B;B;B;B	0.12156	0.007;0.003;0.003;0.007;0.001;0.001;0.001	T	0.29792	-1.0000	10	0.34782	T	0.22	-0.7439	3.1501	0.06485	0.1501:0.2482:0.4745:0.1272	.	512;238;512;512;512;512;512	Q6IMN6-6;E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;.;.;CAPR2_HUMAN;.;.	S	258;512;512;512;179;512;238;431	ENSP00000415407:P258S;ENSP00000298892:P512S;ENSP00000379150:P512S;ENSP00000251071:P512S;ENSP00000309785:P179S;ENSP00000391479:P512S;ENSP00000438010:P431S	ENSP00000251071:P512S	P	-	1	0	CAPRIN2	30773097	0.000000	0.05858	0.065000	0.19835	0.988000	0.76386	-0.015000	0.12634	0.210000	0.20664	0.561000	0.74099	CCA		0.473	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		39	56	0	0	0	1	0	39	56				
SRCAP	10847	broad.mit.edu	37	16	30744978	30744978	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr16:30744978C>T	ENST00000262518.4	+	29	6738	c.6353C>T	c.(6352-6354)aCt>aTt	p.T2118I	SRCAP_ENST00000395059.2_Missense_Mutation_p.T2056I|SRCAP_ENST00000344771.4_Missense_Mutation_p.T1960I	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2118	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ATCCTTTCAACTCGGAGTGGG	0.507																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(6352-6354)aCt>aTt		Snf2-related CREBBP activator protein							104.0	101.0	102.0					16																	30744978		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30744978C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6353C>T	16.37:g.30744978C>T	ENSP00000262518:p.Thr2118Ile					SRCAP_ENST00000395059.2_Missense_Mutation_p.T2056I|SRCAP_ENST00000344771.4_Missense_Mutation_p.T1960I	p.T2118I	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		29	6738	+			2118			Helicase C-terminal.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.6353C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654861	0.47467	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.82167	-1.58;-1.58;-1.58	5.1	5.1	0.69264	Helicase, C-terminal (3);	0.183072	0.30455	N	0.009592	D	0.89938	0.6860	M	0.62154	1.92	0.45718	D	0.998627	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90732	0.4643	10	0.87932	D	0	-14.7461	17.4516	0.87593	0.0:1.0:0.0:0.0	.	2056;2118	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	I	2118;2056;1960	ENSP00000262518:T2118I;ENSP00000378499:T2056I;ENSP00000343042:T1960I	ENSP00000262518:T2118I	T	+	2	0	SRCAP	30652479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.591000	0.82666	2.644000	0.89710	0.655000	0.94253	ACT		0.507	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		40	71	0	0	0	1	0	40	71				
AIF1L	83543	broad.mit.edu	37	9	133987042	133987042	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr9:133987042C>G	ENST00000247291.3	+	3	240	c.152C>G	c.(151-153)gCc>gGc	p.A51G	AIF1L_ENST00000372309.3_Missense_Mutation_p.A77G|AIF1L_ENST00000372301.2_5'UTR|AIF1L_ENST00000372298.1_Missense_Mutation_p.A51G|AIF1L_ENST00000372297.2_5'UTR|AIF1L_ENST00000372312.3_Missense_Mutation_p.A56G|AIF1L_ENST00000372300.1_Missense_Mutation_p.A51G|AIF1L_ENST00000372302.1_Missense_Mutation_p.A51G|AIF1L_ENST00000472942.1_3'UTR	NM_031426.3	NP_113614.1	Q9BQI0	AIF1L_HUMAN	allograft inflammatory factor 1-like	51	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			lung(2)	2						AAGCTCACAGCCTTCAAAGGT	0.567																																					Esophageal Squamous(95;611 1423 5044 34794 42333)	ENST00000372309.3																			0				lung(2)	2						c.(229-231)gCc>gGc		allograft inflammatory factor 1-like							150.0	157.0	154.0					9																	133987042		2203	4300	6503	SO:0001583	missense	83543					actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane	actin filament binding|calcium ion binding	g.chr9:133987042C>G	AL136566	CCDS6939.1, CCDS55348.1, CCDS55349.1	9q34.13-q34.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000126878	ENSG00000126878		"""EF-hand domain containing"""	28904	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 58"""	C9orf58		11230166	Standard	NM_001185095		Approved	IBA2, FLJ12783	uc004cad.2	Q9BQI0	OTTHUMG00000020817	ENST00000247291.3:c.152C>G	9.37:g.133987042C>G	ENSP00000247291:p.Ala51Gly					AIF1L_ENST00000372300.1_Missense_Mutation_p.A51G|AIF1L_ENST00000372297.2_5'UTR|AIF1L_ENST00000247291.3_Missense_Mutation_p.A51G|AIF1L_ENST00000372302.1_Missense_Mutation_p.A51G|AIF1L_ENST00000372301.2_5'UTR|AIF1L_ENST00000472942.1_3'UTR|AIF1L_ENST00000372312.3_Missense_Mutation_p.A56G|AIF1L_ENST00000372298.1_Missense_Mutation_p.A51G	p.A77G	NM_001185095.1	NP_001172024.1	Q9BQI0	AIF1L_HUMAN			4	384	+			51			EF-hand 1.		B2RBC4|Q6ZR40|Q8NAX7|Q8WU47|Q9H9G0	Missense_Mutation	SNP	ENST00000247291.3	37	c.230C>G	CCDS6939.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891280	0.52014	.	.	ENSG00000126878	ENST00000372309;ENST00000247291;ENST00000372302;ENST00000372300;ENST00000372298;ENST00000372312	T;T;T;T;T;T	0.56941	0.95;0.95;0.43;1.65;1.68;0.95	5.47	5.47	0.80525	EF-hand-like domain (1);	0.312565	0.33144	N	0.005234	T	0.42653	0.1212	L	0.43152	1.355	0.39663	D	0.970642	B;P;B;B	0.46142	0.001;0.873;0.035;0.001	B;B;B;B	0.39660	0.001;0.306;0.013;0.001	T	0.35201	-0.9798	10	0.25106	T	0.35	-0.7657	11.6708	0.51399	0.0:0.9101:0.0:0.0899	.	56;51;77;51	F5GYC9;Q9BQI0-4;Q9BQI0-2;Q9BQI0	.;.;.;AIF1L_HUMAN	G	77;51;51;51;51;56	ENSP00000361383:A77G;ENSP00000247291:A51G;ENSP00000361376:A51G;ENSP00000361374:A51G;ENSP00000361372:A51G;ENSP00000361386:A56G	ENSP00000247291:A51G	A	+	2	0	AIF1L	132976863	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	1.968000	0.40500	2.575000	0.86900	0.549000	0.68633	GCC		0.567	AIF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054703.2	NM_031426		14	234	0	0	0	1	0	14	234				
TMEM39A	55254	broad.mit.edu	37	3	119156860	119156860	+	Silent	SNP	C	C	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr3:119156860C>T	ENST00000319172.5	-	6	1086	c.666G>A	c.(664-666)gaG>gaA	p.E222E	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	222						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CCTCTACTGCCTCGTGCTGAA	0.433																																						ENST00000319172.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(664-666)gaG>gaA		transmembrane protein 39A							71.0	67.0	68.0					3																	119156860		2203	4300	6503	SO:0001819	synonymous_variant	55254					integral to membrane		g.chr3:119156860C>T	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.666G>A	3.37:g.119156860C>T						TMEM39A_ENST00000486159.1_5'UTR	p.E222E	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	6	1086	-			222					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Silent	SNP	ENST00000319172.5	37	c.666G>A	CCDS2987.1																																																																																				0.433	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		15	28	0	0	0	1	0	15	28				
SIK3	23387	broad.mit.edu	37	11	116746969	116746969	+	Splice_Site	SNP	C	C	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:116746969C>T	ENST00000292055.4	-	8	956	c.921G>A	c.(919-921)caG>caA	p.Q307Q	SIK3_ENST00000446921.2_Splice_Site_p.Q365Q|SIK3_ENST00000542607.1_Splice_Site_p.Q307Q|SIK3_ENST00000434315.2_Splice_Site_p.Q206Q|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Splice_Site_p.Q365Q	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	307	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCGGAGATACCTGCAGTGTCT	0.483																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.e8+1		SIK family kinase 3							203.0	163.0	177.0					11																	116746969		2201	4296	6497	SO:0001630	splice_region_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116746969C>T	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.921+1G>A	11.37:g.116746969C>T						SIK3_ENST00000434315.2_Splice_Site_p.Q206_splice|SIK3_ENST00000446921.2_Splice_Site_p.Q365_splice|SIK3_ENST00000542607.1_Splice_Site_p.Q307_splice|SIK3_ENST00000292055.4_Splice_Site_p.Q307_splice|SIK3_ENST00000375288.1_5'UTR	p.Q365_splice			Q9Y2K2	SIK3_HUMAN			8	1100	-			307					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Splice_Site	SNP	ENST00000292055.4	37	c.1095_splice	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.626|8.626	0.892573|0.892573	0.17613|0.17613	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000446921|ENST00000445177;ENST00000413553	.|.	.|.	.|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|.	.|.	.|.	.|.	T|T	0.76256|0.76256	0.3962|0.3962	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.74390|0.74390	-0.3681|-0.3681	4|4	.|.	.|.	.|.	.|.	19.5703|19.5703	0.95409|0.95409	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	S|I	330|359;268	.|.	.|.	G|V	-|-	1|1	0|0	SIK3|SIK3	116252179|116252179	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.188000|0.188000	0.23474|0.23474	7.133000|7.133000	0.77259|0.77259	2.620000|2.620000	0.88729|0.88729	0.650000|0.650000	0.86243|0.86243	GGC|GTC		0.483	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164	Silent	29	52	0	0	0	1	0	29	52				
SLCO2A1	6578	broad.mit.edu	37	3	133698375	133698375	+	Missense_Mutation	SNP	G	G	A	rs200244112		TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr3:133698375G>A	ENST00000310926.4	-	2	457	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R62C|SLCO2A1_ENST00000478651.1_5'UTR	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	62					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	AGCCCAAAGCGCTTCTCAATG	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20854	0.0		0.0	False		,,,				2504	0.0					ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(184-186)Cgc>Tgc		solute carrier organic anion transporter family, member 2A1							134.0	127.0	130.0					3																	133698375		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133698375G>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.184C>T	3.37:g.133698375G>A	ENSP00000311291:p.Arg62Cys					SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R62C|SLCO2A1_ENST00000478651.1_5'UTR	p.R62C	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			2	457	-			62					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.184C>T	CCDS3084.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	29.2	4.986754	0.93106	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.57752	0.38;0.38	5.06	5.06	0.68205	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	H	0.95004	3.61	0.49582	D	0.999802	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.985	D	0.86970	0.2097	10	0.87932	D	0	.	18.4279	0.90615	0.0:0.0:1.0:0.0	.	62;62;62	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	C	62	ENSP00000311291:R62C;ENSP00000418893:R62C	ENSP00000311291:R62C	R	-	1	0	SLCO2A1	135181065	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.581000	0.82535	2.351000	0.79841	0.561000	0.74099	CGC		0.557	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		13	138	0	0	0	1	0	13	138				
SMARCAD1	56916	broad.mit.edu	37	4	95174149	95174149	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr4:95174149G>C	ENST00000354268.4	+	9	1345	c.1272G>C	c.(1270-1272)tgG>tgC	p.W424C	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.W424C|SMARCAD1_ENST00000509418.1_5'Flank			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	424					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTAATAGTTGGGAGGCTCTGG	0.408																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1270-1272)tgG>tgC		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							88.0	97.0	94.0					4																	95174149		2200	4300	6500	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95174149G>C	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1272G>C	4.37:g.95174149G>C	ENSP00000346217:p.Trp424Cys					SMARCAD1_ENST00000457823.2_Missense_Mutation_p.W424C	p.W424C			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	9	1345	+			424					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.1272G>C	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783181	0.49891	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268	D;D;D	0.88354	-2.37;-2.37;-2.37	5.48	5.48	0.80851	.	0.000000	0.46758	D	0.000268	D	0.94565	0.8249	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.976;0.989	D	0.94358	0.7585	10	0.54805	T	0.06	-7.1742	19.3481	0.94373	0.0:0.0:1.0:0.0	.	424;424	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	C	424	ENSP00000351947:W424C;ENSP00000415576:W424C;ENSP00000346217:W424C	ENSP00000346217:W424C	W	+	3	0	SMARCAD1	95393172	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.436000	0.90300	2.578000	0.87016	0.650000	0.86243	TGG		0.408	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		112	33	0	0	0	1	0	112	33				
EEF1G	1937	broad.mit.edu	37	11	62334423	62334423	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:62334423G>A	ENST00000329251.4	-	7	842	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.R288W	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	238					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCTCTTCCCGTGAACCCTTC	0.552																																						ENST00000378019.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(862-864)Cgg>Tgg		eukaryotic translation elongation factor 1 gamma							129.0	121.0	124.0					11																	62334423		1849	4084	5933	SO:0001583	missense	1937				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr11:62334423G>A	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.712C>T	11.37:g.62334423G>A	ENSP00000331901:p.Arg238Trp					MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Missense_Mutation_p.R238W	p.R288W			P26641	EF1G_HUMAN			7	952	-			238			EF-1-gamma C-terminal.		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	ENST00000329251.4	37	c.862C>T	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901247	0.33535	.	.	ENSG00000254772	ENST00000329251;ENST00000378019	T;T	0.44083	0.93;0.93	4.66	1.36	0.22044	Glutathione S-transferase, C-terminal-like (1);	0.385811	0.26780	N	0.022525	T	0.26955	0.0660	N	0.22421	0.69	0.09310	N	0.999994	B;B	0.22346	0.022;0.068	B;B	0.15870	0.003;0.014	T	0.26292	-1.0107	10	0.66056	D	0.02	.	10.6022	0.45373	0.0:0.0:0.5118:0.4882	.	288;238	B4DTG2;P26641	.;EF1G_HUMAN	W	238;288	ENSP00000331901:R238W;ENSP00000367258:R288W	ENSP00000331901:R238W	R	-	1	2	EEF1G	62090999	0.722000	0.28017	0.623000	0.29173	0.968000	0.65278	0.838000	0.27572	0.454000	0.26884	-0.314000	0.08810	CGG		0.552	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404		4	187	0	0	0	1	0	4	187				
XIRP2	129446	broad.mit.edu	37	2	168099555	168099555	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr2:168099555C>A	ENST00000409195.1	+	9	1742	c.1653C>A	c.(1651-1653)gaC>gaA	p.D551E	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D329E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D551E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	376					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACACAAATGACAGTTCTCAAA	0.398																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(1651-1653)gaC>gaA		xin actin-binding repeat containing 2							43.0	40.0	41.0					2																	168099555		1842	4094	5936	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099555C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1653C>A	2.37:g.168099555C>A	ENSP00000386840:p.Asp551Glu					XIRP2_ENST00000295237.9_Missense_Mutation_p.D551E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D329E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	p.D551E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	1742	+			376					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.1653C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792006	0.50102	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02525	4.26;4.26;4.26	5.54	2.8	0.32819	.	0.293288	0.37623	N	0.002015	T	0.05227	0.0139	L	0.36672	1.1	0.25163	N	0.990331	P;D;P	0.55605	0.953;0.972;0.952	P;P;P	0.53912	0.45;0.737;0.6	T	0.25012	-1.0144	10	0.51188	T	0.08	-9.2646	8.6574	0.34071	0.0:0.7053:0.0:0.2947	.	376;376;329	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	551;551;329	ENSP00000386840:D551E;ENSP00000295237:D551E;ENSP00000387255:D329E	ENSP00000295237:D551E	D	+	3	2	XIRP2	167807801	0.000000	0.05858	0.995000	0.50966	0.920000	0.55202	0.185000	0.16958	0.317000	0.23160	-0.136000	0.14681	GAC		0.398	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		9	13	1	0	2.17888e-05	1	2.23035e-05	9	13				
CTTNBP2	83992	broad.mit.edu	37	7	117407215	117407215	+	Silent	SNP	A	A	G			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr7:117407215A>G	ENST00000160373.3	-	9	2885	c.2794T>C	c.(2794-2796)Ttg>Ctg	p.L932L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	932					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGCCTACACAAGATTTCTAGG	0.438																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2794-2796)Ttg>Ctg		cortactin binding protein 2							133.0	116.0	122.0					7																	117407215		2203	4300	6503	SO:0001819	synonymous_variant	83992							g.chr7:117407215A>G		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2794T>C	7.37:g.117407215A>G							p.L932L	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	9	2885	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		932					O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	c.2794T>C	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	A	9.578	1.122943	0.20959	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.49	1.86	0.25419	.	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51474	-0.8701	5	.	.	.	-1.0329	9.0182	0.36184	0.7062:0.0:0.2938:0.0	.	.	.	.	P	419	.	.	L	-	2	0	CTTNBP2	117194451	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.213000	0.42844	0.471000	0.27319	0.459000	0.35465	CTT		0.438	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		27	15	0	0	0	1	0	27	15				
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A	rs202009987		TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557																																						ENST00000429566.3																			2	Substitution - Missense(2)	p.V69I(2)	prostate(1)|lung(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(205-207)Gtt>Att		olfactory receptor, family 1, subfamily M, member 1							108.0	82.0	91.0					19																	9204125		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204125G>A		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.205G>A	19.37:g.9204125G>A	ENSP00000401966:p.Val69Ile						p.V69I	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	271	+			69					B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.205G>A	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.509904	0.27036	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.02916	4.11	3.49	-0.909	0.10514	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000102	T	0.05960	0.0155	L	0.39397	1.21	0.09310	N	1	D	0.64830	0.994	D	0.70716	0.97	T	0.23154	-1.0196	10	0.54805	T	0.06	.	4.7447	0.13031	0.4655:0.159:0.3755:0.0	.	69	Q8NGA1	OR1M1_HUMAN	I	72;69	ENSP00000401966:V69I	ENSP00000303195:V72I	V	+	1	0	OR1M1	9065125	0.000000	0.05858	0.004000	0.12327	0.429000	0.31625	-5.071000	0.00154	-0.175000	0.10725	-0.508000	0.04489	GTT		0.557	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			4	85	0	0	0	1	0	4	85				
GRIK5	2901	broad.mit.edu	37	19	42510913	42510913	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr19:42510913C>T	ENST00000262895.3	-	15	1920	c.1921G>A	c.(1921-1923)Gcc>Acc	p.A641T	GRIK5_ENST00000301218.4_Missense_Mutation_p.A641T|GRIK5_ENST00000593562.1_Missense_Mutation_p.A641T	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	641					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GTGAGGAAGGCGGCCAGGTTG	0.632																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1921-1923)Gcc>Acc		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)						67.0	53.0	58.0					19																	42510913		2203	4300	6503	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42510913C>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1921G>A	19.37:g.42510913C>T	ENSP00000262895:p.Ala641Thr					GRIK5_ENST00000301218.4_Missense_Mutation_p.A641T|GRIK5_ENST00000593562.1_Missense_Mutation_p.A641T	p.A641T	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			15	1920	-		Prostate(69;0.059)	641					Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.1921G>A	CCDS12595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.447575|5.447575	0.96205|0.96205	.|.	.|.	ENSG00000105737|ENSG00000105737	ENST00000262895;ENST00000301218|ENST00000454993	T;T|.	0.68331|.	-0.32;-0.32|.	5.18|5.18	5.18|5.18	0.71444|0.71444	Ionotropic glutamate receptor (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88202|0.88202	0.6373|0.6373	H|H	0.96916|0.96916	3.905|3.905	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.92237|0.92237	0.5797|0.5797	10|5	0.87932|.	D|.	0|.	.|.	17.4594|17.4594	0.87616|0.87616	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	641|.	Q16478|.	GRIK5_HUMAN|.	T|H	641|17	ENSP00000262895:A641T;ENSP00000301218:A641T|.	ENSP00000262895:A641T|.	A|R	-|-	1|2	0|0	GRIK5|GRIK5	47202753|47202753	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.805000|7.805000	0.86005|0.86005	2.419000|2.419000	0.82065|0.82065	0.563000|0.563000	0.77884|0.77884	GCC|CGC		0.632	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			15	34	0	0	0	1	0	15	34				
OR4C46	119749	broad.mit.edu	37	11	51515885	51515885	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:51515885G>T	ENST00000328188.1	+	1	604	c.604G>T	c.(604-606)Gga>Tga	p.G202*		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGCCAACAGTGGATTCATCTG	0.483																																						ENST00000328188.1																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(604-606)Gga>Tga		olfactory receptor, family 4, subfamily C, member 46							133.0	115.0	121.0					11																	51515885		2201	4296	6497	SO:0001587	stop_gained	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515885G>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.604G>T	11.37:g.51515885G>T	ENSP00000329056:p.Gly202*						p.G202*	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	604	+			202						Nonsense_Mutation	SNP	ENST00000328188.1	37	c.604G>T	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	6.345	0.431823	0.12045	.	.	ENSG00000185926	ENST00000328188	.	.	.	2.47	2.47	0.30058	.	0.000000	0.45867	D	0.000328	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.7852	0.46401	0.0:0.0:1.0:0.0	.	.	.	.	X	202	.	ENSP00000329056:G202X	G	+	1	0	OR4C46	51372461	0.047000	0.20315	0.925000	0.36789	0.024000	0.10985	1.656000	0.37355	1.433000	0.47394	0.121000	0.15741	GGA		0.483	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		33	51	1	0	6.04164e-23	1	6.77081e-23	33	51				
C1orf159	54991	broad.mit.edu	37	1	1019364	1019364	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:1019364G>A	ENST00000379339.1	-	11	1189	c.979C>T	c.(979-981)Ctc>Ttc	p.L327F	C1orf159_ENST00000294576.5_Missense_Mutation_p.L291F|C1orf159_ENST00000448924.1_Missense_Mutation_p.L327F|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379320.1_Missense_Mutation_p.L291F			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	327						integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GCCTGGCGGAGGCCGGCTGCG	0.647																																						ENST00000448924.1																			0											c.(979-981)Ctc>Ttc		chromosome 1 open reading frame 159							21.0	24.0	23.0					1																	1019364		2190	4286	6476	SO:0001583	missense	54991					integral to membrane		g.chr1:1019364G>A	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.979C>T	1.37:g.1019364G>A	ENSP00000368644:p.Leu327Phe					C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379320.1_Missense_Mutation_p.L291F|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379339.1_Missense_Mutation_p.L327F|C1orf159_ENST00000294576.5_Missense_Mutation_p.L291F	p.L327F			Q96HA4	CA159_HUMAN		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	10	1410	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	327					B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Missense_Mutation	SNP	ENST00000379339.1	37	c.979C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.58|13.58	2.278580|2.278580	0.40294|0.40294	.|.	.|.	ENSG00000131591|ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000379320|ENST00000434641	.|.	.|.	.|.	2.81|2.81	-5.63|-5.63	0.02474|0.02474	.|.	.|.	.|.	.|.	.|.	T|T	0.27594|0.27594	0.0678|0.0678	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D;D|.	0.53462|.	0.96;0.96|.	B;B|.	0.38156|.	0.266;0.266|.	T|T	0.15407|0.15407	-1.0438|-1.0438	7|5	0.87932|0.37606	D|T	0|0.19	.|.	3.6456|3.6456	0.08184|0.08184	0.1016:0.1178:0.1814:0.5992|0.1016:0.1178:0.1814:0.5992	.|.	327;291|.	Q96HA4;Q5T2W9|.	CA159_HUMAN;.|.	F|L	327;327;291;291|177	.|.	ENSP00000294576:L291F|ENSP00000390635:P177L	L|P	-|-	1|2	0|0	C1orf159|C1orf159	1009227|1009227	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.471000|-0.471000	0.06631|0.06631	-2.903000|-2.903000	0.00311|0.00311	-0.500000|-0.500000	0.04577|0.04577	CTC|CCT		0.647	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891		4	8	0	0	0	1	0	4	8				
VNN1	8876	broad.mit.edu	37	6	133014187	133014187	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr6:133014187G>A	ENST00000367928.4	-	4	815	c.802C>T	c.(802-804)Cat>Tat	p.H268Y		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	268	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GAGGGGTAATGTATGTTGGAT	0.388																																						ENST00000367928.4																			0				NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(802-804)Cat>Tat		vanin 1							109.0	98.0	102.0					6																	133014187		2203	4300	6503	SO:0001583	missense	8876				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	g.chr6:133014187G>A	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.802C>T	6.37:g.133014187G>A	ENSP00000356905:p.His268Tyr						p.H268Y	NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)	4	815	-	Breast(56;0.135)		268			CN hydrolase.		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	c.802C>T	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479709	0.84747	.	.	ENSG00000112299	ENST00000367928	D	0.86230	-2.09	6.07	6.07	0.98685	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.85682	D	0.000000	D	0.95178	0.8437	M	0.92412	3.305	0.51767	D	0.999935	D	0.76494	0.999	D	0.72075	0.976	D	0.95153	0.8274	10	0.87932	D	0	-13.3882	20.6439	0.99570	0.0:0.0:1.0:0.0	.	268	O95497	VNN1_HUMAN	Y	268	ENSP00000356905:H268Y	ENSP00000356905:H268Y	H	-	1	0	VNN1	133055880	1.000000	0.71417	0.250000	0.24296	0.201000	0.24016	7.124000	0.77185	2.884000	0.98904	0.655000	0.94253	CAT		0.388	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			10	20	0	0	0	1	0	10	20				
SLC22A2	6582	broad.mit.edu	37	6	160671714	160671714	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr6:160671714A>G	ENST00000366953.3	-	3	797	c.539T>C	c.(538-540)cTc>cCc	p.L180P	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Missense_Mutation_p.L159P	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	180					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	TGTAGTTAGGAGGCAGAGCTT	0.418																																						ENST00000366952.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(475-477)cTc>cCc		solute carrier family 22 (organic cation transporter), member 2							77.0	75.0	75.0					6																	160671714		2203	4300	6503	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160671714A>G	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.539T>C	6.37:g.160671714A>G	ENSP00000355920:p.Leu180Pro					SLC22A2_ENST00000366953.3_Missense_Mutation_p.L180P|SLC22A2_ENST00000491092.1_5'UTR	p.L159P			O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	5	1957	-		Breast(66;0.000776)|Ovarian(120;0.0303)	180					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.476T>C	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.214657	0.58452	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.80123	-1.34;-1.34	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.317531	0.34507	N	0.003906	D	0.92446	0.7602	H	0.97659	4.05	0.80722	D	1	D;D;D	0.64830	0.987;0.994;0.973	D;D;D	0.71184	0.967;0.972;0.921	D	0.94918	0.8071	10	0.87932	D	0	.	15.6252	0.76851	1.0:0.0:0.0:0.0	.	180;180;180	O15244-3;O15244;O15244-2	.;S22A2_HUMAN;.	P	180;159	ENSP00000355920:L180P;ENSP00000355919:L159P	ENSP00000355919:L159P	L	-	2	0	SLC22A2	160591704	1.000000	0.71417	0.949000	0.38748	0.234000	0.25298	7.954000	0.87848	2.275000	0.75901	0.528000	0.53228	CTC		0.418	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		31	74	0	0	0	1	0	31	74				
ONECUT3	390874	broad.mit.edu	37	19	1775232	1775232	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr19:1775232C>T	ENST00000382349.4	+	2	2563	c.1273C>T	c.(1273-1275)Cag>Tag	p.Q425*		NM_001080488.1	NP_001073957.1	O60422	ONEC3_HUMAN	one cut homeobox 3	425					endocrine pancreas development (GO:0031018)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)						Acute lymphoblastic leukemia(61;4.66e-11)|all_hematologic(61;4.59e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCGACCTGCAGCGACGCAC	0.652																																						ENST00000382349.4																			0											c.(1273-1275)Cag>Tag		one cut homeobox 3							18.0	22.0	21.0					19																	1775232		2113	4214	6327	SO:0001587	stop_gained	390874				endocrine pancreas development		sequence-specific DNA binding	g.chr19:1775232C>T	AC004755	CCDS45900.1	19p13.3	2012-03-09	2007-07-16			ENSG00000205922		"""Homeoboxes / CUT class"""	13399	protein-coding gene	gene with protein product		611294	"""one cut domain, family member 3"""			9915796	Standard	NM_001080488		Approved		uc010xgr.2	O60422		ENST00000382349.4:c.1273C>T	19.37:g.1775232C>T	ENSP00000371786:p.Gln425*						p.Q425*	NM_001080488.1	NP_001073957.1	O60422	ONEC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	2563	+		Acute lymphoblastic leukemia(61;4.66e-11)|all_hematologic(61;4.59e-07)	425					A8MZM7	Nonsense_Mutation	SNP	ENST00000382349.4	37	c.1273C>T	CCDS45900.1	.	.	.	.	.	.	.	.	.	.	c	49	15.347540	0.99831	.	.	ENSG00000205922	ENST00000382349	.	.	.	3.0	3.0	0.34707	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.503	0.55966	0.0:1.0:0.0:0.0	.	.	.	.	X	425	.	ENSP00000371786:Q425X	Q	+	1	0	ONECUT3	1726232	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.082000	0.76851	1.220000	0.43490	0.401000	0.26515	CAG		0.652	ONECUT3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418499.1			6	11	0	0	0	1	0	6	11				
PHF3	23469	broad.mit.edu	37	6	64423032	64423032	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr6:64423032A>T	ENST00000262043.3	+	16	5888	c.5548A>T	c.(5548-5550)Aat>Tat	p.N1850Y	PHF3_ENST00000393387.1_Missense_Mutation_p.N1850Y			Q92576	PHF3_HUMAN	PHD finger protein 3	1850	Pro-rich.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTTTGCTCAAAATCCCATGGT	0.512																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(5548-5550)Aat>Tat		PHD finger protein 3							118.0	126.0	123.0					6																	64423032		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64423032A>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5548A>T	6.37:g.64423032A>T	ENSP00000262043:p.Asn1850Tyr					PHF3_ENST00000393387.1_Missense_Mutation_p.N1850Y	p.N1850Y			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		16	5888	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1850			Pro-rich.		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.5548A>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	9.372	1.070719	0.20147	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.30448	1.53;1.53	5.86	5.86	0.93980	.	0.000000	0.42294	D	0.000721	T	0.28830	0.0715	L	0.29908	0.895	0.42075	D	0.991226	D	0.71674	0.998	P	0.60173	0.87	T	0.02991	-1.1085	9	.	.	.	-19.3017	16.2479	0.82454	1.0:0.0:0.0:0.0	.	1850	Q92576	PHF3_HUMAN	Y	1850	ENSP00000262043:N1850Y;ENSP00000377048:N1850Y	.	N	+	1	0	PHF3	64480991	0.998000	0.40836	0.991000	0.47740	0.982000	0.71751	4.160000	0.58164	2.241000	0.73720	0.533000	0.62120	AAT		0.512	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			66	107	0	0	0	1	0	66	107				
BCAP29	55973	broad.mit.edu	37	7	107234468	107234468	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr7:107234468G>A	ENST00000005259.4	+	4	601	c.262G>A	c.(262-264)Gat>Aat	p.D88N	BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379117.2_Missense_Mutation_p.D88N|BCAP29_ENST00000379121.2_De_novo_Start_OutOfFrame|BCAP29_ENST00000465919.1_De_novo_Start_OutOfFrame|BCAP29_ENST00000445771.2_Missense_Mutation_p.D88N|BCAP29_ENST00000379119.2_Missense_Mutation_p.D88N	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	88					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						CAGCAGACCTGATGCCTATGA	0.343																																						ENST00000379121.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14								B-cell receptor-associated protein 29							109.0	113.0	112.0					7																	107234468		2203	4300	6503	SO:0001583	missense	55973				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane		g.chr7:107234468G>A		CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.262G>A	7.37:g.107234468G>A	ENSP00000005259:p.Asp88Asn					BCAP29_ENST00000379117.2_Missense_Mutation_p.D88N|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379119.2_Missense_Mutation_p.D88N|BCAP29_ENST00000465919.1_De_novo_Start_OutOfFrame|BCAP29_ENST00000005259.4_Missense_Mutation_p.D88N|BCAP29_ENST00000445771.2_Missense_Mutation_p.D88N				Q9UHQ4	BAP29_HUMAN			0	2	+								G5E9L4|O95003	Translation_Start_Site	SNP	ENST00000005259.4	37		CCDS34731.1	.	.	.	.	.	.	.	.	.	.	G	6.355	0.433550	0.12045	.	.	ENSG00000075790	ENST00000005259;ENST00000445771;ENST00000479917;ENST00000421217;ENST00000457837;ENST00000379117;ENST00000379119;ENST00000491150	.	.	.	6.02	-0.771	0.11002	.	0.637002	0.18272	N	0.146300	T	0.23688	0.0573	N	0.05199	-0.095	0.80722	D	1	B;B;B	0.15473	0.013;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.37126	-0.9719	9	0.02654	T	1	-33.0332	11.8502	0.52407	0.8042:0.0:0.1958:0.0	.	88;88;88	G5E9L4;C9JTE9;Q9UHQ4	.;.;BAP29_HUMAN	N	88;88;88;88;88;88;88;45	.	ENSP00000005259:D88N	D	+	1	0	BCAP29	107021704	0.087000	0.21565	0.047000	0.18901	0.713000	0.41058	0.733000	0.26087	-0.342000	0.08363	-0.136000	0.14681	GAT		0.343	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844		100	44	0	0	0	1	0	100	44				
ATN1	1822	broad.mit.edu	37	12	7046137	7046137	+	Silent	SNP	T	T	A	rs143934146		TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr12:7046137T>A	ENST00000356654.4	+	5	1944	c.1707T>A	c.(1705-1707)tcT>tcA	p.S569S	ATN1_ENST00000396684.2_Silent_p.S569S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	569	Poly-Ser.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTCCAGTCTCTTCCTCTTCCA	0.632																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1705-1707)tcT>tcA		atrophin 1							151.0	127.0	135.0					12																	7046137		2203	4300	6503	SO:0001819	synonymous_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7046137T>A	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1707T>A	12.37:g.7046137T>A						ATN1_ENST00000396684.2_Silent_p.S569S	p.S569S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1944	+			569			Poly-Ser.		Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	c.1707T>A	CCDS31734.1																																																																																				0.632	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		40	111	0	0	0	1	0	40	111				
MAVS	57506	broad.mit.edu	37	20	3845164	3845164	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr20:3845164C>T	ENST00000428216.2	+	6	1015	c.887C>T	c.(886-888)tCc>tTc	p.S296F	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.S155F	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	296					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TCTCTGCCCTCCAAAGTGCCT	0.592																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(886-888)tCc>tTc		mitochondrial antiviral signaling protein							86.0	75.0	79.0					20																	3845164		2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3845164C>T	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.887C>T	20.37:g.3845164C>T	ENSP00000401980:p.Ser296Phe					MAVS_ENST00000416600.2_Missense_Mutation_p.S155F|MAVS_ENST00000358134.6_3'UTR	p.S296F	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			6	1015	+			296					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.887C>T	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697123	0.68386	.	.	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.35048	1.33;2.35	3.02	2.05	0.26809	.	.	.	.	.	T	0.18718	0.0449	N	0.08118	0	0.09310	N	0.999997	B	0.32010	0.351	B	0.32864	0.154	T	0.17806	-1.0357	9	0.72032	D	0.01	-3.6116	6.3683	0.21468	0.0:0.8522:0.0:0.1478	.	296	Q7Z434	MAVS_HUMAN	F	155;296	ENSP00000413749:S155F;ENSP00000401980:S296F	ENSP00000413749:S155F	S	+	2	0	MAVS	3793164	0.133000	0.22466	0.340000	0.25575	0.845000	0.48019	0.512000	0.22755	0.567000	0.29293	0.313000	0.20887	TCC		0.592	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		30	50	0	0	0	1	0	30	50				
NCAN	1463	broad.mit.edu	37	19	19330002	19330002	+	Silent	SNP	C	C	A	rs138463686		TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr19:19330002C>A	ENST00000252575.6	+	3	451	c.352C>A	c.(352-354)Cgg>Agg	p.R118R		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	118	Ig-like V-type.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TTCCTACCCCCGGCGCCGAGC	0.652																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(352-354)Cgg>Agg		neurocan							48.0	40.0	43.0					19																	19330002		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19330002C>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.352C>A	19.37:g.19330002C>A							p.R118R	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		3	395	+			118			Ig-like V-type.		Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.352C>A	CCDS12397.1																																																																																				0.652	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		13	20	1	0	2.27111e-07	1	2.381e-07	13	20				
STAG2	10735	broad.mit.edu	37	X	123195628	123195628	+	Silent	SNP	A	A	G			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chrX:123195628A>G	ENST00000371160.1	+	17	1832	c.1542A>G	c.(1540-1542)acA>acG	p.T514T	STAG2_ENST00000371145.3_Silent_p.T514T|STAG2_ENST00000354548.5_Silent_p.T445T|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.T514T|STAG2_ENST00000371157.3_Silent_p.T514T|STAG2_ENST00000371144.3_Silent_p.T514T	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	514					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						tAGCACTAACAGATAGGCAAG	0.353																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(1540-1542)acA>acG		stromal antigen 2							48.0	45.0	46.0					X																	123195628		2203	4300	6503	SO:0001819	synonymous_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123195628A>G	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1542A>G	X.37:g.123195628A>G						STAG2_ENST00000354548.5_Silent_p.T445T|STAG2_ENST00000371157.3_Silent_p.T514T|STAG2_ENST00000371144.3_Silent_p.T514T|STAG2_ENST00000371145.3_Silent_p.T514T|STAG2_ENST00000218089.9_Silent_p.T514T|STAG2_ENST00000469481.1_Intron	p.T514T			Q8N3U4	STAG2_HUMAN			17	1832	+			514					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	ENST00000371160.1	37	c.1542A>G	CCDS14607.1																																																																																				0.353	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		4	4	0	0	0	1	0	4	4				
TRGC2	6967	broad.mit.edu	37	7	38288848	38288848	+	RNA	SNP	C	C	G			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr7:38288848C>G	ENST00000436911.2	-	0	325							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										ACATACCTGTCTTTATTGGAG	0.338																																						ENST00000436911.2																			0																				124.0	110.0	115.0					7																	38288848		1856	4089	5945			6967							g.chr7:38288848C>G	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38288848C>G														0	325	-									RNA	SNP	ENST00000436911.2	37																																																																																						0.338	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		16	19	0	0	0	1	0	16	19				
MDC1	9656	broad.mit.edu	37	6	30681696	30681696	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr6:30681696T>A	ENST00000376406.3	-	3	1048	c.401A>T	c.(400-402)gAt>gTt	p.D134V	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.D134V|MDC1_ENST00000494654.1_5'Flank	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	134	Interaction with CHEK2.|Interaction with the MRN complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CAGAGAGACATCCAGGCGATG	0.557								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(400-402)gAt>gTt	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							71.0	76.0	74.0					6																	30681696		1511	2709	4220	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30681696T>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.401A>T	6.37:g.30681696T>A	ENSP00000365588:p.Asp134Val					MDC1_ENST00000376405.2_Missense_Mutation_p.D134V	p.D134V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			3	1048	-			134			Interaction with CHEK2.|Interaction with the MRN complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.401A>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.835560	0.32421	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104;ENST00000435797;ENST00000452213;ENST00000416571	T;T	0.03496	4.0;3.91	5.68	0.119	0.14685	SMAD/FHA domain (1);	1.302330	0.05490	N	0.556434	T	0.02304	0.0071	L	0.54323	1.7	0.19300	N	0.999976	B;D;B	0.54047	0.104;0.964;0.147	B;P;B	0.47430	0.05;0.547;0.05	T	0.40117	-0.9580	10	0.87932	D	0	-0.306	4.8348	0.13458	0.0:0.2785:0.1581:0.5634	.	134;6;134	Q14676-2;B4DYH4;Q14676	.;.;MDC1_HUMAN	V	134;134;134;6;134;134;134	ENSP00000365588:D134V;ENSP00000365587:D134V	ENSP00000365587:D134V	D	-	2	0	MDC1	30789675	0.000000	0.05858	0.006000	0.13384	0.050000	0.14768	-0.244000	0.08903	0.099000	0.17552	-0.263000	0.10527	GAT		0.557	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		21	66	0	0	0	1	0	21	66				
ESAM	90952	broad.mit.edu	37	11	124624558	124624558	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:124624558C>T	ENST00000278927.5	-	5	838	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	ESAM_ENST00000442070.2_Missense_Mutation_p.V58M|VSIG2_ENST00000403470.1_5'Flank|VSIG2_ENST00000326621.5_5'Flank	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	237	Ig-like C2-type.				blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		TCCAGCGTCACATTACATTGG	0.552																																						ENST00000278927.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(709-711)Gtg>Atg		endothelial cell adhesion molecule							220.0	186.0	197.0					11																	124624558		2201	4299	6500	SO:0001583	missense	90952				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction		g.chr11:124624558C>T	AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.709G>A	11.37:g.124624558C>T	ENSP00000278927:p.Val237Met					ESAM_ENST00000442070.2_Missense_Mutation_p.V58M	p.V237M	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)	5	838	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	237			Ig-like C2-type.		B4DVN8|Q96T50	Missense_Mutation	SNP	ENST00000278927.5	37	c.709G>A	CCDS8453.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563627	0.65651	.	.	ENSG00000149564	ENST00000442070;ENST00000444566;ENST00000278927;ENST00000435477	T;T;T;T	0.15952	3.99;3.99;2.38;2.38	5.62	2.6	0.31112	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.323825	0.32459	N	0.006080	T	0.31979	0.0814	M	0.72479	2.2	0.33490	D	0.588549	P;D;D;D	0.76494	0.851;0.999;0.998;0.998	P;D;D;D	0.71414	0.546;0.966;0.973;0.973	T	0.41484	-0.9506	10	0.52906	T	0.07	.	3.7931	0.08728	0.1702:0.5699:0.0:0.2599	.	58;237;237;110	B4DVN8;F8WDW9;Q96AP7;C9JIE7	.;.;ESAM_HUMAN;.	M	58;58;237;110	ENSP00000410351:V58M;ENSP00000406689:V58M;ENSP00000278927:V237M;ENSP00000415893:V110M	ENSP00000278927:V237M	V	-	1	0	ESAM	124129768	0.416000	0.25424	0.943000	0.38184	0.992000	0.81027	0.515000	0.22801	0.739000	0.32628	0.655000	0.94253	GTG		0.552	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	NM_138961		61	112	0	0	0	1	0	61	112				
EPHA4	2043	broad.mit.edu	37	2	222294710	222294710	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr2:222294710G>C	ENST00000281821.2	-	15	2699	c.2658C>G	c.(2656-2658)aaC>aaG	p.N886K	EPHA4_ENST00000409938.1_Missense_Mutation_p.N886K|EPHA4_ENST00000409854.1_Missense_Mutation_p.N886K|EPHA4_ENST00000392071.4_Missense_Mutation_p.N835K	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	886					adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCTTCAAGCTGTTGGGGTTGC	0.507																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2656-2658)aaC>aaG		EPH receptor A4							198.0	194.0	196.0					2																	222294710		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222294710G>C	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2658C>G	2.37:g.222294710G>C	ENSP00000281821:p.Asn886Lys					EPHA4_ENST00000392071.4_Missense_Mutation_p.N835K|EPHA4_ENST00000409938.1_Missense_Mutation_p.N886K|EPHA4_ENST00000409854.1_Missense_Mutation_p.N886K	p.N886K	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	15	2699	-		Renal(207;0.0183)	886					A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.2658C>G	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146742	0.57151	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	5.93	5.05	0.67936	Protein kinase-like domain (1);	0.126973	0.64402	D	0.000001	T	0.46560	0.1399	L	0.43152	1.355	0.80722	D	1	P	0.39782	0.688	B	0.32762	0.152	T	0.43065	-0.9414	10	0.27785	T	0.31	.	15.5297	0.75948	0.0669:0.0:0.9331:0.0	.	886	P54764	EPHA4_HUMAN	K	886;886;886;835	ENSP00000281821:N886K;ENSP00000386276:N886K;ENSP00000386829:N886K;ENSP00000375923:N835K	ENSP00000281821:N886K	N	-	3	2	EPHA4	222002954	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.722000	0.68485	2.826000	0.97356	0.655000	0.94253	AAC		0.507	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			5	166	0	0	0	1	0	5	166				
ZFYVE9	9372	broad.mit.edu	37	1	52698894	52698894	+	Missense_Mutation	SNP	C	C	G	rs145555218		TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:52698894C>G	ENST00000371591.1	+	2	147	c.16C>G	c.(16-18)Caa>Gaa	p.Q6E	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.Q6E|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.Q6E	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	6					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.Q6*(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GAATTACTTCCAAGCAGAAGC	0.323																																						ENST00000287727.3																			1	Substitution - Nonsense(1)	p.Q6*(1)	skin(1)	breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(16-18)Caa>Gaa		zinc finger, FYVE domain containing 9							110.0	111.0	111.0					1																	52698894		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52698894C>G	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.16C>G	1.37:g.52698894C>G	ENSP00000360647:p.Gln6Glu					ZFYVE9_ENST00000361625.1_Missense_Mutation_p.Q6E|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.Q6E|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.Q6E	p.Q6E	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN			3	188	+			6					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.16C>G	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621679	0.66787	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.57273	0.87;0.41;1.0;1.0	4.63	4.63	0.57726	.	0.000000	0.43747	D	0.000533	T	0.46983	0.1421	N	0.14661	0.345	0.36432	D	0.864994	B;B;P	0.41597	0.208;0.132;0.756	B;B;P	0.49829	0.047;0.021;0.623	T	0.60475	-0.7256	10	0.72032	D	0.01	.	13.7432	0.62860	0.0:0.8459:0.1541:0.0	.	6;6;6	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	E	6	ENSP00000349737:Q6E;ENSP00000355358:Q6E;ENSP00000287727:Q6E;ENSP00000360647:Q6E	ENSP00000287727:Q6E	Q	+	1	0	ZFYVE9	52471482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.262000	0.58847	2.546000	0.85860	0.655000	0.94253	CAA		0.323	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		30	45	0	0	0	1	0	30	45				
UNC5C	8633	broad.mit.edu	37	4	96091388	96091388	+	Silent	SNP	C	C	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr4:96091388C>T	ENST00000453304.1	-	15	2895	c.2547G>A	c.(2545-2547)cgG>cgA	p.R849R		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	849					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGAGCTTCTGCCGGATAGGGA	0.602																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(2545-2547)cgG>cgA		unc-5 homolog C (C. elegans)							161.0	158.0	159.0					4																	96091388		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96091388C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2547G>A	4.37:g.96091388C>T							p.R849R	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	15	2895	-		Hepatocellular(203;0.114)	849					Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.2547G>A	CCDS3643.1																																																																																				0.602	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		5	434	0	0	0	1	0	5	434				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	105	0	0	0	1	0	4	105				
HEATR5A	25938	broad.mit.edu	37	14	31849768	31849768	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr14:31849768G>C	ENST00000389961.3	-	10	1594	c.1595C>G	c.(1594-1596)gCa>gGa	p.A532G	HEATR5A_ENST00000404677.3_Missense_Mutation_p.A538G|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A245G|HEATR5A_ENST00000439348.1_Missense_Mutation_p.A532G|HEATR5A_ENST00000543095.2_Missense_Mutation_p.A538G			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	532										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CAAATCCTCTGCTAATGTCAT	0.348																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(1612-1614)gCa>gGa		HEAT repeat containing 5A							51.0	48.0	49.0					14																	31849768		1917	4127	6044	SO:0001583	missense	25938						binding	g.chr14:31849768G>C	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1595C>G	14.37:g.31849768G>C	ENSP00000374611:p.Ala532Gly					HEATR5A_ENST00000404677.3_Missense_Mutation_p.A538G|HEATR5A_ENST00000389961.3_Missense_Mutation_p.A532G|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A245G|HEATR5A_ENST00000439348.1_Missense_Mutation_p.A532G	p.A538G	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	11	1797	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		532					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.1613C>G		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	32|32|32	5.148978|5.148978|5.148978	0.94645|0.94645|0.94645	.|.|.	.|.|.	ENSG00000129493|ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000538864|ENST00000550366	T;T;T;T;T|.|.	0.08807|.|.	3.05;3.05;3.05;3.05;3.05|.|.	5.67|5.67|5.67	5.67|5.67|5.67	0.87782|0.87782|0.87782	Armadillo-type fold (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.82632|0.82632|0.82632	0.5079|0.5079|0.5079	M|M|M	0.83118|0.83118|0.83118	2.625|2.625|2.625	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;P;D|.|.	0.89917|.|.	1.0;0.907;0.963|.|.	D;P;P|.|.	0.87578|.|.	0.998;0.686;0.895|.|.	T|T|T	0.83117|0.83117|0.83117	-0.0120|-0.0120|-0.0120	10|5|5	0.66056|.|.	D|.|.	0.02|.|.	.|.|.	19.7743|19.7743|19.7743	0.96385|0.96385|0.96385	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	538;532;532|.|.	B5MC49;Q86XA9-2;Q86XA9|.|.	.;.;HTR5A_HUMAN|.|.	G|E|R	532;532;245;538;538|166|180	ENSP00000374611:A532G;ENSP00000405407:A532G;ENSP00000408681:A245G;ENSP00000437968:A538G;ENSP00000384646:A538G|.|.	ENSP00000374611:A532G|.|.	A|Q|S	-|-|-	2|1|3	0|0|2	HEATR5A|HEATR5A|HEATR5A	30919519|30919519|30919519	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	9.549000|9.549000|9.549000	0.98106|0.98106|0.98106	2.663000|2.663000|2.663000	0.90544|0.90544|0.90544	0.557000|0.557000|0.557000	0.71058|0.71058|0.71058	GCA|CAG|AGC		0.348	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		6	8	0	0	0	1	0	6	8				
CELSR1	9620	broad.mit.edu	37	22	46931804	46931804	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr22:46931804C>T	ENST00000262738.3	-	1	1263	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	CELSR1_ENST00000395964.1_Missense_Mutation_p.E422K|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	422	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCTGGTACTCGGCCGCCTCC	0.682																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(1264-1266)Gag>Aag		cadherin, EGF LAG seven-pass G-type receptor 1							29.0	21.0	23.0					22																	46931804		2203	4290	6493	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931804C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1264G>A	22.37:g.46931804C>T	ENSP00000262738:p.Glu422Lys					CELSR1_ENST00000395964.1_Missense_Mutation_p.E422K	p.E422K	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	1263	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	422			Cadherin 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.1264G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	2.913	-0.224875	0.06022	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.01725	4.67;4.67	4.65	2.48	0.30137	Cadherin (4);Cadherin-like (1);	0.421490	0.20996	U	0.081957	T	0.01254	0.0041	N	0.12920	0.275	0.23855	N	0.996652	B	0.17852	0.024	B	0.14023	0.01	T	0.47355	-0.9124	10	0.06365	T	0.9	.	13.023	0.58799	0.2936:0.7064:0.0:0.0	.	422	Q9NYQ6	CELR1_HUMAN	K	422	ENSP00000262738:E422K;ENSP00000379293:E422K	ENSP00000262738:E422K	E	-	1	0	CELSR1	45310468	0.001000	0.12720	0.126000	0.21872	0.451000	0.32288	0.338000	0.19858	0.375000	0.24679	0.462000	0.41574	GAG		0.682	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		16	22	0	0	0	1	0	16	22				
PXDN	7837	broad.mit.edu	37	2	1652648	1652648	+	Silent	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr2:1652648G>A	ENST00000252804.4	-	17	2954	c.2904C>T	c.(2902-2904)atC>atT	p.I968I		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	968					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGAAGCAGGGGATGGGGCTCT	0.706																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2902-2904)atC>atT		peroxidasin homolog (Drosophila)							16.0	17.0	17.0					2																	1652648		2098	4193	6291	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652648G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2904C>T	2.37:g.1652648G>A							p.I968I	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2954	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	968					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.2904C>T	CCDS46221.1																																																																																				0.706	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		4	16	0	0	0	1	0	4	16				
HAO1	54363	broad.mit.edu	37	20	7894877	7894877	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr20:7894877T>C	ENST00000378789.3	-	3	530	c.479A>G	c.(478-480)gAc>gGc	p.D160G		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	160	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTAAGGTGTGTCCACTGTCAC	0.532																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(478-480)gAc>gGc		hydroxyacid oxidase (glycolate oxidase) 1							257.0	166.0	197.0					20																	7894877		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7894877T>C	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.479A>G	20.37:g.7894877T>C	ENSP00000368066:p.Asp160Gly						p.D160G	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			3	530	-			160			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.479A>G	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.018878	0.93404	.	.	ENSG00000101323	ENST00000378789	T	0.63580	-0.05	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.87493	0.6191	H	0.98178	4.165	0.80722	D	1	D;D	0.58620	0.983;0.983	D;D	0.83275	0.996;0.996	D	0.91861	0.5499	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	160;160	A8K058;Q9UJM8	.;HAOX1_HUMAN	G	160	ENSP00000368066:D160G	ENSP00000368066:D160G	D	-	2	0	HAO1	7842877	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.653000	0.83643	2.371000	0.80710	0.533000	0.62120	GAC		0.532	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			22	68	0	0	0	1	0	22	68				
KANSL3	55683	broad.mit.edu	37	2	97279275	97279275	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr2:97279275G>C	ENST00000431828.1	-	6	821	c.745C>G	c.(745-747)Ctg>Gtg	p.L249V	KANSL3_ENST00000599854.1_Missense_Mutation_p.L162V|KANSL3_ENST00000440133.1_Missense_Mutation_p.L43V|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Missense_Mutation_p.L162V			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	249					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGCCTCTTCAGTAGGAGAGAC	0.473																																						ENST00000599854.1																			0											c.(484-486)Ctg>Gtg		KAT8 regulatory NSL complex subunit 3							94.0	98.0	96.0					2																	97279275		1929	4139	6068	SO:0001583	missense	55683							g.chr2:97279275G>C	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.745C>G	2.37:g.97279275G>C	ENSP00000396749:p.Leu249Val					KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Missense_Mutation_p.L162V|KANSL3_ENST00000440133.1_Missense_Mutation_p.L43V|KANSL3_ENST00000431828.1_Missense_Mutation_p.L249V	p.L162V	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN			6	951	-			249					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.484C>G	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818475	0.71028	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268;ENST00000448075;ENST00000418735	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.65	3.87	0.44632	.	0.000000	0.64402	D	0.000001	T	0.58850	0.2151	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.998;0.996	D;D;D;D	0.83275	0.991;0.994;0.996;0.994	T	0.59429	-0.7456	10	0.72032	D	0.01	.	10.5216	0.44922	0.1577:0.0:0.8423:0.0	.	43;249;162;137	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	V	162;137;249;162;43;43;162;43;43	ENSP00000396749:L249V;ENSP00000400678:L162V;ENSP00000406207:L43V;ENSP00000405988:L43V	ENSP00000346144:L162V	L	-	1	2	KIAA1310	96643002	0.999000	0.42202	0.879000	0.34478	0.992000	0.81027	2.831000	0.48144	0.753000	0.32945	0.467000	0.42956	CTG		0.473	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		54	106	0	0	0	1	0	54	106				
DAPK1	1612	broad.mit.edu	37	9	90113996	90113996	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr9:90113996A>G	ENST00000408954.3	+	2	339	c.4A>G	c.(4-6)Acc>Gcc	p.T2A	DAPK1_ENST00000358077.5_Missense_Mutation_p.T2A|DAPK1_ENST00000491893.1_Missense_Mutation_p.T2A|DAPK1_ENST00000469640.2_Missense_Mutation_p.T2A|DAPK1_ENST00000472284.1_Missense_Mutation_p.T2A	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	2					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GTTTATCATGACCGTGTTCAG	0.572									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(4-6)Acc>Gcc		death-associated protein kinase 1							106.0	115.0	112.0					9																	90113996		2123	4233	6356	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90113996A>G	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.4A>G	9.37:g.90113996A>G	ENSP00000386135:p.Thr2Ala					DAPK1_ENST00000472284.1_Missense_Mutation_p.T2A|DAPK1_ENST00000408954.3_Missense_Mutation_p.T2A|DAPK1_ENST00000358077.5_Missense_Mutation_p.T2A|DAPK1_ENST00000491893.1_Missense_Mutation_p.T2A	p.T2A			P53355	DAPK1_HUMAN			2	379	+			2					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.4A>G	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.000312	0.54147	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.65916	-0.18;-0.18;-0.16;-0.18;-0.12	5.32	4.19	0.49359	Protein kinase-like domain (1);	0.000000	0.40469	N	0.001096	T	0.32496	0.0831	N	0.01576	-0.805	0.41969	D	0.990743	B;B;B	0.19935	0.04;0.007;0.037	B;B;B	0.21546	0.035;0.007;0.023	T	0.14337	-1.0476	10	0.52906	T	0.07	.	7.58	0.27959	0.9061:0.0:0.0939:0.0	.	2;2;2	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	A	2	ENSP00000350785:T2A;ENSP00000417076:T2A;ENSP00000418885:T2A;ENSP00000386135:T2A;ENSP00000419026:T2A	ENSP00000350785:T2A	T	+	1	0	DAPK1	89303816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.860000	0.55995	1.043000	0.40175	0.533000	0.62120	ACC		0.572	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		12	18	0	0	0	1	0	12	18				
OR52W1	120787	broad.mit.edu	37	11	6220873	6220873	+	Silent	SNP	G	G	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr11:6220873G>T	ENST00000311352.2	+	1	498	c.420G>T	c.(418-420)ctG>ctT	p.L140L	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCTGTCCTGGTCACCAAAG	0.542																																						ENST00000311352.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11						c.(418-420)ctG>ctT		olfactory receptor, family 52, subfamily W, member 1							159.0	109.0	126.0					11																	6220873		2201	4296	6497	SO:0001819	synonymous_variant	120787				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6220873G>T	AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"""GPCR / Class A : Olfactory receptors"""	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.420G>T	11.37:g.6220873G>T							p.L140L	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	498	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	140					Q8NH78	Silent	SNP	ENST00000311352.2	37	c.420G>T	CCDS31407.1																																																																																				0.542	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1	NM_001005178		17	22	1	0	6.94344e-10	1	7.4599e-10	17	22				
REG3A	5068	broad.mit.edu	37	2	79384769	79384769	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr2:79384769T>C	ENST00000409839.3	-	5	425	c.389A>G	c.(388-390)tAc>tGc	p.Y130C	REG3A_ENST00000393878.1_Missense_Mutation_p.Y130C|REG3A_ENST00000305165.2_Missense_Mutation_p.Y130C|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	130	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CCATGCAAAGTAATTCATCAC	0.547																																						ENST00000393878.1																			0				breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						c.(388-390)tAc>tGc		regenerating islet-derived 3 alpha							144.0	135.0	138.0					2																	79384769		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79384769T>C	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.389A>G	2.37:g.79384769T>C	ENSP00000386630:p.Tyr130Cys					REG3A_ENST00000409839.3_Missense_Mutation_p.Y130C|REG3A_ENST00000305165.2_Missense_Mutation_p.Y130C	p.Y130C	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN			4	643	-			130			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.389A>G	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.312729	0.40895	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.19394	2.15;2.15;2.15	3.87	3.87	0.44632	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.146450	0.32028	N	0.006693	T	0.57431	0.2053	H	0.97214	3.96	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.58769	-0.7578	10	0.87932	D	0	.	9.3333	0.38034	0.0:0.0:0.0:1.0	.	130	Q06141	REG3A_HUMAN	C	130	ENSP00000386630:Y130C;ENSP00000377456:Y130C;ENSP00000304311:Y130C	ENSP00000304311:Y130C	Y	-	2	0	REG3A	79238277	0.228000	0.23718	0.031000	0.17742	0.004000	0.04260	1.645000	0.37238	1.983000	0.57843	0.402000	0.26972	TAC		0.547	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		35	86	0	0	0	1	0	35	86				
GZF1	64412	broad.mit.edu	37	20	23345049	23345049	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr20:23345049C>T	ENST00000338121.5	+	2	106	c.29C>T	c.(28-30)tCc>tTc	p.S10F	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.S10F|GZF1_ENST00000544236.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	10					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CTGCTGGAATCCAAATCCTCC	0.478																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(28-30)tCc>tTc		GDNF-inducible zinc finger protein 1							85.0	89.0	88.0					20																	23345049		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345049C>T	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.29C>T	20.37:g.23345049C>T	ENSP00000338290:p.Ser10Phe					GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.S10F	p.S10F			Q9H116	GZF1_HUMAN			2	106	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		10					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.29C>T	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247915	0.39697	.	.	ENSG00000125812	ENST00000338121;ENST00000424216;ENST00000377051	T;T;T	0.70164	-0.46;2.01;-0.46	4.97	4.97	0.65823	BTB/POZ fold (2);	0.000000	0.64402	D	0.000017	T	0.79592	0.4472	M	0.69248	2.105	0.80722	D	1	D	0.69078	0.997	D	0.64595	0.927	T	0.82333	-0.0509	10	0.87932	D	0	.	17.2179	0.86949	0.0:1.0:0.0:0.0	.	10	Q9H116	GZF1_HUMAN	F	10	ENSP00000338290:S10F;ENSP00000410009:S10F;ENSP00000366250:S10F	ENSP00000338290:S10F	S	+	2	0	GZF1	23293049	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	5.884000	0.69729	2.328000	0.79073	0.650000	0.86243	TCC		0.478	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		30	55	0	0	0	1	0	30	55				
MSI1	4440	broad.mit.edu	37	12	120784110	120784110	+	Missense_Mutation	SNP	G	G	A	rs538550275		TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr12:120784110G>A	ENST00000257552.2	-	13	963	c.875C>T	c.(874-876)aCg>aTg	p.T292M		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	292					epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGAGCCATCGTCCAGGGGTG	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		11766	0.0		0.0	False		,,,				2504	0.001					ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(874-876)aCg>aTg		musashi RNA-binding protein 1							11.0	9.0	10.0					12																	120784110		2104	4193	6297	SO:0001583	missense	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120784110G>A	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.875C>T	12.37:g.120784110G>A	ENSP00000257552:p.Thr292Met						p.T292M	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			13	963	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		292					Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	37	c.875C>T	CCDS9196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.50|12.50	1.955647|1.955647	0.34471|0.34471	.|.	.|.	ENSG00000135097|ENSG00000135097	ENST00000546985|ENST00000257552	.|T	.|0.25579	.|1.79	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|0.229124	.|0.31031	.|N	.|0.008382	.|T	.|0.11367	.|0.0277	N|N	0.14661|0.14661	0.345|0.345	0.28622|0.28622	N|N	0.908101|0.908101	.|P	.|0.34892	.|0.474	.|B	.|0.25140	.|0.058	.|T	.|0.08493	.|-1.0719	.|10	.|0.33940	.|T	.|0.23	.|.	6.3011|6.3011	0.21113|0.21113	0.1009:0.1897:0.7094:0.0|0.1009:0.1897:0.7094:0.0	.|.	.|292	.|O43347	.|MSI1H_HUMAN	X|M	205|292	.|ENSP00000257552:T292M	.|ENSP00000257552:T292M	R|T	-|-	1|2	2|0	MSI1|MSI1	119268493|119268493	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.743000|2.743000	0.47442|0.47442	2.552000|2.552000	0.86080|0.86080	0.561000|0.561000	0.74099|0.74099	CGA|ACG		0.692	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		4	7	0	0	0	1	0	4	7				
PON3	5446	broad.mit.edu	37	7	94989436	94989436	+	Missense_Mutation	SNP	C	C	T	rs367854595		TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr7:94989436C>T	ENST00000265627.5	-	9	924	c.914G>A	c.(913-915)cGc>cAc	p.R305H	PON3_ENST00000451904.1_3'UTR|PON3_ENST00000427422.1_Missense_Mutation_p.A235T|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	305					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.R305H(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	ATTCTGGATGCGAAGTACCTG	0.438																																						ENST00000265627.5																			1	Substitution - Missense(1)	p.R305H(1)	pancreas(1)	breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24						c.(913-915)cGc>cAc		paraoxonase 3							100.0	98.0	98.0					7																	94989436		2203	4300	6503	SO:0001583	missense	5446							g.chr7:94989436C>T	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.914G>A	7.37:g.94989436C>T	ENSP00000265627:p.Arg305His					PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.A235T	p.R305H	NM_000940.2	NP_000931.1			STAD - Stomach adenocarcinoma(171;0.0151)		9	924	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)							A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	c.914G>A	CCDS5639.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.04|17.04	3.288243|3.288243	0.59976|0.59976	.|.	.|.	ENSG00000105852|ENSG00000105852	ENST00000427422|ENST00000265627	T|T	0.31247|0.44083	1.5|0.93	4.7|4.7	3.81|3.81	0.43845|0.43845	.|Six-bladed beta-propeller, TolB-like (1);	.|0.051965	.|0.85682	.|D	.|0.000000	T|T	0.58708|0.58708	0.2141|0.2141	M|M	0.87456|0.87456	2.885|2.885	0.26632|0.26632	N|N	0.972448|0.972448	.|D	.|0.71674	.|0.998	.|P	.|0.52267	.|0.694	T|T	0.60831|0.60831	-0.7185|-0.7185	7|10	0.87932|0.87932	D|D	0|0	-2.6384|-2.6384	13.029|13.029	0.58831|0.58831	0.0:0.9206:0.0:0.0794|0.0:0.9206:0.0:0.0794	.|.	.|305	.|Q15166	.|PON3_HUMAN	T|H	235|305	ENSP00000413276:A235T|ENSP00000265627:R305H	ENSP00000413276:A235T|ENSP00000265627:R305H	A|R	-|-	1|2	0|0	PON3|PON3	94827372|94827372	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.307000|0.307000	0.27823|0.27823	5.132000|5.132000	0.64758|0.64758	1.347000|1.347000	0.45714|0.45714	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.438	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		26	119	0	0	0	1	0	26	119				
GIMAP6	474344	broad.mit.edu	37	7	150324890	150324890	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr7:150324890C>G	ENST00000328902.5	-	3	1012	c.796G>C	c.(796-798)Gag>Cag	p.E266Q	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	266						cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCCAAGACTCCTCACCAGGC	0.537																																						ENST00000328902.5																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(796-798)Gag>Cag		GTPase, IMAP family member 6							120.0	97.0	105.0					7																	150324890		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150324890C>G	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.796G>C	7.37:g.150324890C>G	ENSP00000330374:p.Glu266Gln					GIMAP6_ENST00000493969.1_3'UTR	p.E266Q	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1012	-			266					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.796G>C	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	C	6.996	0.553944	0.13374	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.06068	3.35	4.17	-1.38	0.09027	.	1.130140	0.06666	N	0.765299	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B;B	0.25312	0.027;0.123	B;B	0.27170	0.01;0.077	T	0.47674	-0.9099	10	0.30854	T	0.27	.	5.8977	0.18949	0.0:0.3315:0.4718:0.1966	.	266;186	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	Q	266;327	ENSP00000330374:E266Q	ENSP00000330374:E266Q	E	-	1	0	GIMAP6	149955823	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.026000	0.13599	-0.538000	0.06281	-0.140000	0.14226	GAG		0.537	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		30	27	0	0	0	1	0	30	27				
YARS2	51067	broad.mit.edu	37	12	32903678	32903678	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr12:32903678G>C	ENST00000324868.8	-	3	1105	c.1078C>G	c.(1078-1080)Cga>Gga	p.R360G	YARS2_ENST00000551673.1_5'Flank	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	360					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	AATCCTTCTCGTCCATGAACA	0.408																																						ENST00000324868.8																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1078-1080)Cga>Gga		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						142.0	124.0	130.0					12																	32903678		2203	4300	6503	SO:0001583	missense	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32903678G>C	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.1078C>G	12.37:g.32903678G>C	ENSP00000320658:p.Arg360Gly						p.R360G	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN			3	1105	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		360					D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	c.1078C>G	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788663	0.31685	.	.	ENSG00000139131	ENST00000324868	T	0.42900	0.96	5.06	4.15	0.48705	.	0.505378	0.21661	N	0.071014	T	0.37972	0.1023	L	0.50919	1.6	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.38308	-0.9667	10	0.87932	D	0	-10.3524	11.6163	0.51092	0.0:0.0:0.6033:0.3967	.	360	Q9Y2Z4	SYYM_HUMAN	G	360	ENSP00000320658:R360G	ENSP00000320658:R360G	R	-	1	2	YARS2	32794945	0.455000	0.25736	0.275000	0.24674	0.988000	0.76386	2.844000	0.48246	1.241000	0.43820	0.650000	0.86243	CGA		0.408	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		29	68	0	0	0	1	0	29	68				
C12orf74	338809	broad.mit.edu	37	12	93100523	93100523	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr12:93100523G>A	ENST00000397833.3	+	2	567	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	C12orf74_ENST00000544406.2_Missense_Mutation_p.R39Q	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	39								p.R39L(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CAGTTTGACCGGCAAGCCCCA	0.627																																						ENST00000544406.2																			1	Substitution - Missense(1)	p.R39L(1)	lung(1)	kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						c.(115-117)cGg>cAg		chromosome 12 open reading frame 74							38.0	41.0	40.0					12																	93100523		1913	4123	6036	SO:0001583	missense	338809							g.chr12:93100523G>A	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.116G>A	12.37:g.93100523G>A	ENSP00000380933:p.Arg39Gln					C12orf74_ENST00000397833.3_Missense_Mutation_p.R39Q	p.R39Q			Q32Q52	CL074_HUMAN			2	382	+			39					F5H4P0	Missense_Mutation	SNP	ENST00000397833.3	37	c.116G>A	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061767	0.76187	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.98	3.06	0.35304	.	.	.	.	.	T	0.31796	0.0808	L	0.27053	0.805	0.23232	N	0.998076	D;D	0.61080	0.989;0.975	P;B	0.49887	0.625;0.406	T	0.09862	-1.0655	8	0.87932	D	0	.	7.3589	0.26735	0.2111:0.0:0.7889:0.0	.	39;39	F5H4P0;Q32Q52	.;CL074_HUMAN	Q	39	.	ENSP00000380933:R39Q	R	+	2	0	C12orf74	91624654	0.998000	0.40836	1.000000	0.80357	0.674000	0.39518	1.114000	0.31196	0.616000	0.30141	0.462000	0.41574	CGG		0.627	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671		17	49	0	0	0	1	0	17	49				
C1orf177	163747	broad.mit.edu	37	1	55307479	55307479	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr1:55307479G>A	ENST00000371273.3	+	10	1205	c.1190G>A	c.(1189-1191)aGg>aAg	p.R397K	C1orf177_ENST00000358193.3_3'UTR	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	397										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						taaagggaaaggatcacacca	0.463																																						ENST00000371273.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(1189-1191)aGg>aAg		chromosome 1 open reading frame 177							91.0	74.0	79.0					1																	55307479		692	1591	2283	SO:0001583	missense	163747							g.chr1:55307479G>A	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.1190G>A	1.37:g.55307479G>A	ENSP00000360320:p.Arg397Lys					C1orf177_ENST00000358193.3_3'UTR	p.R397K	NM_001110533.1	NP_001104003.1	Q3ZCV2	CA177_HUMAN			10	1205	+			397					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.1190G>A	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241971	0.58995	.	.	ENSG00000162398	ENST00000371273	T	0.58060	0.36	3.91	3.91	0.45181	.	0.000000	0.64402	D	0.000020	T	0.66548	0.2800	M	0.63843	1.955	0.36557	D	0.87221	D	0.61697	0.99	D	0.70935	0.971	T	0.74293	-0.3712	10	0.87932	D	0	-2.6623	11.7053	0.51593	0.0:0.0:1.0:0.0	.	397	Q3ZCV2	CA177_HUMAN	K	397	ENSP00000360320:R397K	ENSP00000360320:R397K	R	+	2	0	C1orf177	55080067	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.701000	0.54793	2.455000	0.83008	0.585000	0.79938	AGG		0.463	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		3	5	0	0	0	1	0	3	5				
TRABD2A	129293	broad.mit.edu	37	2	85066403	85066403	+	Silent	SNP	G	G	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr2:85066403G>A	ENST00000409520.2	-	4	903	c.861C>T	c.(859-861)atC>atT	p.I287I	TRABD2A_ENST00000409133.1_Silent_p.I287I|TRABD2A_ENST00000335459.5_Silent_p.I238I	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	287					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CCTGAGCAGTGATGCGCTCCT	0.463																																						ENST00000335459.5																			0											c.(712-714)atC>atT		TraB domain containing 2A							60.0	58.0	59.0					2																	85066403		1906	4125	6031	SO:0001819	synonymous_variant	129293							g.chr2:85066403G>A	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.861C>T	2.37:g.85066403G>A						TRABD2A_ENST00000409133.1_Silent_p.I287I|TRABD2A_ENST00000409520.2_Silent_p.I287I	p.I238I	NM_001080824.1	NP_001074293.1					3	919	-								B4DKK8|I6UMB9	Silent	SNP	ENST00000409520.2	37	c.714C>T																																																																																					0.463	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		14	25	0	0	0	1	0	14	25				
CARD6	84674	broad.mit.edu	37	5	40854448	40854448	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr5:40854448C>G	ENST00000254691.5	+	3	3213	c.3014C>G	c.(3013-3015)tCt>tGt	p.S1005C	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	1005	Pro-rich.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCTAAGCCTTCTCAGCCCAGA	0.527																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(3013-3015)tCt>tGt		caspase recruitment domain family, member 6							245.0	251.0	249.0					5																	40854448		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854448C>G	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.3014C>G	5.37:g.40854448C>G	ENSP00000254691:p.Ser1005Cys					CARD6_ENST00000381677.3_Intron	p.S1005C	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	3213	+			1005			Pro-rich.		Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.3014C>G	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165366	0.38217	.	.	ENSG00000132357	ENST00000254691	D	0.96073	-3.9	4.73	-0.596	0.11657	.	0.949079	0.08739	N	0.900847	D	0.90287	0.6962	N	0.24115	0.695	0.09310	N	1	D	0.56287	0.975	P	0.45946	0.498	T	0.82995	-0.0180	10	0.72032	D	0.01	-0.6956	3.332	0.07088	0.3045:0.4289:0.0:0.2666	.	1005	Q9BX69	CARD6_HUMAN	C	1005	ENSP00000254691:S1005C	ENSP00000254691:S1005C	S	+	2	0	CARD6	40890205	0.009000	0.17119	0.001000	0.08648	0.297000	0.27493	0.274000	0.18680	-0.227000	0.09884	0.467000	0.42956	TCT		0.527	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			155	636	0	0	0	1	0	155	636				
NRG2	9542	broad.mit.edu	37	5	139422532	139422534	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr5:139422532_139422534delGCT	ENST00000361474.1	-	1	345_347	c.121_123delAGC	c.(121-123)agcdel	p.S41del	NRG2_ENST00000545385.1_In_Frame_Del_p.S41del|NRG2_ENST00000358522.3_In_Frame_Del_p.S41del|NRG2_ENST00000289422.7_In_Frame_Del_p.S41del|NRG2_ENST00000289409.4_In_Frame_Del_p.S41del|NRG2_ENST00000394770.1_In_Frame_Del_p.S41del|NRG2_ENST00000541337.1_In_Frame_Del_p.S41del	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	41	Poly-Ser.				embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.S41delS(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tgccgctctcgctgctgctgctg	0.7																																						ENST00000541337.1																			2	Deletion - In frame(2)	p.S41delS(2)	soft_tissue(1)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(121-123)del		neuregulin 2			,,,,	9,5,109,1819		2,0,0,5,1,0,3,19,71,870					,,,,	0.6	0.8			4	20,40,281,3927		5,0,1,9,12,0,16,38,204,1849	no	codingComplex,codingComplex,codingComplex,codingComplex,codingComplex	NRG2	NM_013983.2,NM_013982.2,NM_013981.3,NM_004883.2,NM_001184935.1	,,,,	7,0,1,14,13,0,19,57,275,2719	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		7.9897,6.3337,7.4718	,,,,	,,,,		29,45,390,5746				SO:0001651	inframe_deletion	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139422532_139422534delGCT		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.121_123delAGC	5.37:g.139422541_139422543delGCT	ENSP00000354910:p.Ser41del					NRG2_ENST00000545385.1_In_Frame_Del_p.S41del|NRG2_ENST00000289409.4_In_Frame_Del_p.S41del|NRG2_ENST00000358522.3_In_Frame_Del_p.S41del|NRG2_ENST00000289422.7_In_Frame_Del_p.S41del|NRG2_ENST00000361474.1_In_Frame_Del_p.S41del|NRG2_ENST00000394770.1_In_Frame_Del_p.S41del	p.S41del	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	350_352	-			41			Poly-Ser.			In_Frame_Del	DEL	ENST00000361474.1	37	c.121_123delAGC	CCDS4217.1																																																																																				0.700	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		2	4						2	4	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176710861	176710861	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr5:176710861delA	ENST00000439151.2	+	20	6128	c.6083delA	c.(6082-6084)gaafs	p.E2028fs	NSD1_ENST00000347982.4_Frame_Shift_Del_p.E1759fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.E1759fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.E1925fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2028	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCCAACTGTGAAACACAGAAG	0.443			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(6082-6084)gafs		nuclear receptor binding SET domain protein 1							160.0	155.0	157.0					5																	176710861		2203	4300	6503	SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176710861delA	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6083delA	5.37:g.176710861delA	ENSP00000395929:p.Glu2028fs	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Frame_Shift_Del_p.E1925fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.E1759fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.E1759fs	p.E2028fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	20	6128	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2028			SET.		Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	37	c.6083delA	CCDS4412.1																																																																																				0.443	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		62	43						62	43	---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98224262	98224263	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr9:98224262_98224263insA	ENST00000331920.6	-	16	2877_2878	c.2578_2579insT	c.(2578-2580)gacfs	p.D860fs	PTCH1_ENST00000418258.1_Frame_Shift_Ins_p.D709fs|PTCH1_ENST00000421141.1_Frame_Shift_Ins_p.D709fs|PTCH1_ENST00000437951.1_Frame_Shift_Ins_p.D794fs|PTCH1_ENST00000375274.2_Frame_Shift_Ins_p.D859fs|PTCH1_ENST00000429896.2_Frame_Shift_Ins_p.D709fs|PTCH1_ENST00000430669.2_Frame_Shift_Ins_p.D794fs	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	860					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCAGTCACTGTCAAATGCATCC	0.5																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(2380-2382)cagfs		patched 1																																				SO:0001589	frameshift_variant	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98224262_98224263insA	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2578_2579insT	9.37:g.98224262_98224263insA	ENSP00000332353:p.Asp860fs					PTCH1_ENST00000437951.1_Frame_Shift_Ins_p.Q794fs|PTCH1_ENST00000331920.6_Frame_Shift_Ins_p.Q860fs|PTCH1_ENST00000418258.1_Frame_Shift_Ins_p.Q709fs|PTCH1_ENST00000421141.1_Frame_Shift_Ins_p.Q709fs|PTCH1_ENST00000429896.2_Frame_Shift_Ins_p.Q709fs|PTCH1_ENST00000375274.2_Frame_Shift_Ins_p.Q859fs	p.Q794fs			Q13635	PTC1_HUMAN			16	2965_2966	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	860					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Frame_Shift_Ins	INS	ENST00000331920.6	37	c.2380_2381insT	CCDS6714.1																																																																																				0.500	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		81	40						81	40	---	---	---	---
DLG5	9231	broad.mit.edu	37	10	79613112	79613114	+	Splice_Site	DEL	CTG	CTG	-			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr10:79613112_79613114delCTG	ENST00000372391.2	-	5	867_869	c.862_864delCAG	c.(862-864)cagdel	p.Q288del	DLG5_ENST00000372388.2_Splice_Site_p.Q288del	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	288					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ctgggCCTACCTGCTGCTGCTGG	0.576																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.e5+1		discs, large homolog 5 (Drosophila)				19,4235		0,19,2108						4.6	1.0			29	80,8134		6,68,4033	no	coding-near-splice	DLG5	NM_004747.3		6,87,6141	A1A1,A1R,RR		0.9739,0.4466,0.794				99,12369				SO:0001630	splice_region_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79613112_79613114delCTG	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.864+1CAG>-	10.37:g.79613121_79613123delCTG						DLG5_ENST00000372388.2_Splice_Site_p.Q288_splice	p.Q288_splice	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		5	867_869	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		288					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Splice_Site	DEL	ENST00000372391.2	37	c.864_splice	CCDS7353.2																																																																																				0.576	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2		In_Frame_Del	2	4						2	4	---	---	---	---
TRAV9-2	28677	broad.mit.edu	37	14	22409532	22409540	+	RNA	DEL	TCTCTCTCT	TCTCTCTCT	-	rs374912343|rs371270332|rs200693606|rs2178778|rs587678559|rs201742006|rs367992314	byFrequency	TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr14:22409532_22409540delTCTCTCTCT	ENST00000390441.2	+	0	102									T cell receptor alpha variable 9-2																		tctctctctctctctctctTTTTTTTTTT	0.411																																						ENST00000390441.2																			0																	1137,2349		133,871,739						0.2	0.0		dbSNP_102	30	2861,4899		379,2103,1398	no	intergenic				512,2974,2137	A1A1,A1R,RR		36.8686,32.6162,35.5504				3998,7248						28677							g.chr14:22409532_22409540delTCTCTCTCT	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409532_22409540delTCTCTCTCT														0	102	+									RNA	DEL	ENST00000390441.2	37																																																																																						0.411	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		4	4						4	4	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr15:23312380delT	ENST00000560464.1	-	0	3118									hect domain and RLD 2 pseudogene 2																		TGTTAttttcttttttttttt	0.398																																						ENST00000560464.1																			0																																																			400322							g.chr15:23312380delT	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23312380delT														0	3118	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.398	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			3	5						3	5	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578262	7578277	+	Frame_Shift_Del	DEL	CGGATAAGATGCTGAG	CGGATAAGATGCTGAG	-	rs587780071|rs587778718|rs483352697|rs370216745|rs397516435		TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr17:7578262_7578277delCGGATAAGATGCTGAG	ENST00000269305.4	-	6	761_776	c.572_587delCTCAGCATCTTATCCG	c.(571-588)cctcagcatcttatccgafs	p.PQHLIR191fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.PQHLIR191fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PQHLIR191fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.PQHLIR191fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.PQHLIR191fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PQHLIR191fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	191	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.Q192*(83)|p.H193R(80)|p.I195T(69)|p.L194R(47)|p.H193L(42)|p.H193Y(29)|p.I195F(20)|p.R196P(18)|p.H193P(18)|p.L194F(17)|p.R64*(14)|p.R103*(14)|p.H193D(13)|p.I195N(12)|p.I195S(10)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.P191del(7)|p.R196fs*51(7)|p.?(6)|p.I195fs*52(6)|p.Q99*(6)|p.I195fs*14(6)|p.Q60*(6)|p.L62R(5)|p.L101R(5)|p.Q192R(5)|p.P191delP(4)|p.H61R(4)|p.H100L(4)|p.H61L(4)|p.H100R(4)|p.L194L(4)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.I195M(3)|p.R196Q(3)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.Q192H(3)|p.P191L(2)|p.P191fs*53(2)|p.I102S(2)|p.I102T(2)|p.P59delP(2)|p.H61P(2)|p.I63T(2)|p.H100P(2)|p.I63S(2)|p.H61D(2)|p.H100D(2)|p.R103P(2)|p.G187fs*16(2)|p.R64P(2)|p.L194fs*15(2)|p.P191R(2)|p.P98delP(2)|p.H193H(2)|p.Q192Q(2)|p.R196R(2)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P59_E66>Q(1)|p.P191fs*56(1)|p.I102M(1)|p.I102F(1)|p.L188_P191del(1)|p.Q192fs*30(1)|p.I102fs*14(1)|p.I195fs*50(1)|p.R196L(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.H100Y(1)|p.H61Y(1)|p.Q192fs*16(1)|p.I195L(1)|p.I63fs*14(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P191fs*15(1)|p.I195_G199delIRVEG(1)|p.L62H(1)|p.A189fs*53(1)|p.A189_Q192>E(1)|p.L194V(1)|p.L194I(1)|p.I102fs*52(1)|p.I195fs*12(1)|p.I63M(1)|p.P191H(1)|p.L194fs*14(1)|p.P191P(1)|p.L101H(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.I63F(1)|p.I63fs*>28(1)|p.Q192fs*56(1)|p.Q192del(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAG	0.551		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		866	Substitution - Missense(473)|Substitution - Nonsense(290)|Deletion - Frameshift(29)|Deletion - In frame(25)|Insertion - Frameshift(15)|Substitution - coding silent(11)|Whole gene deletion(8)|Complex - deletion inframe(7)|Unknown(6)|Complex - frameshift(1)|Complex - insertion inframe(1)	p.R196*(167)|p.Q192*(83)|p.H193R(80)|p.I195T(69)|p.L194R(47)|p.H193L(42)|p.H193Y(29)|p.I195F(20)|p.R196P(18)|p.H193P(18)|p.L194F(17)|p.R64*(14)|p.R103*(14)|p.H193D(13)|p.I195N(12)|p.I195S(10)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.P191del(7)|p.R196fs*51(7)|p.?(6)|p.I195fs*52(6)|p.Q99*(6)|p.I195fs*14(6)|p.Q60*(6)|p.L62R(5)|p.L101R(5)|p.Q192R(5)|p.P191delP(4)|p.H61R(4)|p.H100L(4)|p.H61L(4)|p.H100R(4)|p.L194L(4)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.I195M(3)|p.R196Q(3)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.Q192H(3)|p.P191L(2)|p.P191fs*53(2)|p.I102S(2)|p.I102T(2)|p.P59delP(2)|p.H61P(2)|p.I63T(2)|p.H100P(2)|p.I63S(2)|p.H61D(2)|p.H100D(2)|p.R103P(2)|p.G187fs*16(2)|p.R64P(2)|p.L194fs*15(2)|p.P191R(2)|p.P98delP(2)|p.H193H(2)|p.Q192Q(2)|p.R196R(2)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P59_E66>Q(1)|p.P191fs*56(1)|p.I102M(1)|p.I102F(1)|p.L188_P191del(1)|p.Q192fs*30(1)|p.I102fs*14(1)|p.I195fs*50(1)|p.R196L(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.H100Y(1)|p.H61Y(1)|p.Q192fs*16(1)|p.I195L(1)|p.I63fs*14(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P191fs*15(1)|p.I195_G199delIRVEG(1)|p.L62H(1)|p.A189fs*53(1)|p.A189_Q192>E(1)|p.L194V(1)|p.L194I(1)|p.I102fs*52(1)|p.I195fs*12(1)|p.I63M(1)|p.P191H(1)|p.L194fs*14(1)|p.P191P(1)|p.L101H(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.I63F(1)|p.I63fs*>28(1)|p.Q192fs*56(1)|p.Q192del(1)|p.H193_I195>AP(1)	lung(128)|breast(116)|large_intestine(107)|ovary(102)|upper_aerodigestive_tract(82)|haematopoietic_and_lymphoid_tissue(54)|oesophagus(52)|urinary_tract(37)|stomach(30)|liver(29)|biliary_tract(28)|skin(27)|central_nervous_system(23)|endometrium(16)|pancreas(12)|kidney(7)|soft_tissue(4)|bone(4)|prostate(3)|eye(2)|cervix(1)|adrenal_gland(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD972478|CM083194|CM941329|CM951225|CM984587	TP53	D|M		c.(571-588)cafs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578262_7578277delCGGATAAGATGCTGAG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.572_587delCTCAGCATCTTATCCG	17.37:g.7578262_7578277delCGGATAAGATGCTGAG	ENSP00000269305:p.Pro191fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Frame_Shift_Del_p.PQHLIR191fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.PQHLIR191fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.PQHLIR191fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.PQHLIR191fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PQHLIR191fs	p.PQHLIR191fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	704_719	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	191		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.572_587delCTCAGCATCTTATCCG	CCDS11118.1																																																																																				0.551	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	16						21	16	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21142442	21142442	+	RNA	DEL	A	A	-	rs113752643|rs570165711	byFrequency	TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr20:21142442delA	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							TCATTTCTGGAAAAAAAAAAA	0.363																																						ENST00000591761.1																			0																																																			101929591							g.chr20:21142442delA																													20.37:g.21142442delA						PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA								0	5142	-									RNA	DEL	ENST00000591761.1	37																																																																																						0.363	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			3	6						3	6	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46761484	46761484	+	Splice_Site	DEL	A	A	-			TCGA-D6-A6EO-01A-11D-A31L-08	TCGA-D6-A6EO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	710de6ca-2401-4b9c-b803-1086cc6b775d	88414f62-bce3-45d4-8925-a108cc4b2501	g.chr22:46761484delA	ENST00000262738.3	-	31	8402	c.8403delT	c.(8401-8403)cct>cc	p.P2801fs		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2801					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AAGCCATACCAGGGGGATCCT	0.637																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.e31+1		cadherin, EGF LAG seven-pass G-type receptor 1							19.0	22.0	21.0					22																	46761484		2175	4289	6464	SO:0001630	splice_region_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46761484delA	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8404+1T>-	22.37:g.46761484delA							p.P2801_splice	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	31	8402	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2801					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Splice_Site	DEL	ENST00000262738.3	37	c.8404_splice	CCDS14076.1																																																																																				0.637	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	Frame_Shift_Del	2	4						2	4	---	---	---	---
