#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
AHNAK	79026	broad.mit.edu	37	11	62295869	62295869	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr11:62295869A>T	ENST00000378024.4	-	5	6294	c.6020T>A	c.(6019-6021)aTg>aAg	p.M2007K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2007					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGACACATCCATATCCCCTTT	0.483																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6019-6021)aTg>aAg		AHNAK nucleoprotein							347.0	349.0	348.0					11																	62295869		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295869A>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6020T>A	11.37:g.62295869A>T	ENSP00000367263:p.Met2007Lys					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.M2007K	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6294	-		Melanoma(852;0.155)	2007					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6020T>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	8.776	0.927168	0.18056	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00940	5.52	3.45	2.28	0.28536	.	0.799354	0.10222	N	0.700743	T	0.01421	0.0046	L	0.54323	1.7	0.09310	N	1	B	0.32425	0.371	B	0.31869	0.137	T	0.46205	-0.9208	10	0.87932	D	0	.	7.2991	0.26409	0.8034:0.0:0.0:0.1966	.	2007	Q09666	AHNK_HUMAN	K	96;2007	ENSP00000367263:M2007K	ENSP00000244934:M96K	M	-	2	0	AHNAK	62052445	0.000000	0.05858	0.001000	0.08648	0.663000	0.39108	0.283000	0.18846	0.232000	0.21100	0.248000	0.18094	ATG		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	353	0	0	0	1	0	5	353				
COX15	1355	broad.mit.edu	37	10	101473220	101473220	+	IGR	SNP	T	T	C			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr10:101473220T>C	ENST00000016171.5	-	0	2356				COX15_ENST00000497381.1_5'Flank|CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Missense_Mutation_p.N373S			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)						cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		aaaagtaaagttgaataagac	0.358																																						ENST00000370483.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(1117-1119)aAc>aGc		cytochrome c oxidase assembly homolog 15 (yeast)							74.0	71.0	72.0					10																	101473220		2203	4300	6503	SO:0001628	intergenic_variant	1355				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr10:101473220T>C	AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893		10.37:g.101473220T>C						CUTC_ENST00000493385.1_Intron	p.N373S	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)	9	1168	-		Colorectal(252;0.234)	0					A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	c.1118A>G	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	T	1.000	-0.691161	0.03303	.	.	ENSG00000014919	ENST00000370483	.	.	.	2.13	-0.445	0.12242	.	.	.	.	.	T	0.17534	0.0421	.	.	.	0.09310	N	1	B	0.19706	0.038	B	0.12837	0.008	T	0.23440	-1.0188	7	0.22706	T	0.39	.	2.5153	0.04667	0.0:0.1791:0.2915:0.5294	.	373	Q7KZN9-2	.	S	373	.	ENSP00000359514:N373S	N	-	2	0	COX15	101463210	0.000000	0.05858	0.001000	0.08648	0.501000	0.33797	-0.402000	0.07223	-0.112000	0.11979	0.459000	0.35465	AAC		0.358	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		10	37	0	0	0	1	0	10	37				
LRP1B	53353	broad.mit.edu	37	2	141092044	141092044	+	Silent	SNP	T	T	C			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr2:141092044T>C	ENST00000389484.3	-	79	13172	c.12201A>G	c.(12199-12201)caA>caG	p.Q4067Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4067					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAAGTTCTTTTGTACTAAAA	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12199-12201)caA>caG		low density lipoprotein receptor-related protein 1B							174.0	160.0	164.0					2																	141092044		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141092044T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12201A>G	2.37:g.141092044T>C		TSP Lung(27;0.18)					p.Q4067Q	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	79	13172	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4067					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.12201A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	9.871	1.198930	0.22121	.	.	ENSG00000168702	ENST00000437977	.	.	.	6.08	2.43	0.29744	.	.	.	.	.	T	0.59074	0.2167	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53457	-0.8436	4	.	.	.	.	9.9331	0.41534	0.0:0.2437:0.0:0.7563	.	.	.	.	R	299	.	.	K	-	2	0	LRP1B	140808514	0.989000	0.36119	1.000000	0.80357	0.993000	0.82548	0.228000	0.17814	0.542000	0.28846	0.482000	0.46254	AAA		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		22	33	0	0	0	1	0	22	33				
CC2D1A	54862	broad.mit.edu	37	19	14031583	14031583	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr19:14031583C>A	ENST00000318003.7	+	14	1730	c.1489C>A	c.(1489-1491)Cta>Ata	p.L497I	CC2D1A_ENST00000589606.1_Missense_Mutation_p.L497I	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	497					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCTGGCCTTCCTAGAGGGCCG	0.647																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(1489-1491)Cta>Ata		coiled-coil and C2 domain containing 1A							27.0	32.0	30.0					19																	14031583		1912	4127	6039	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14031583C>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1489C>A	19.37:g.14031583C>A	ENSP00000313601:p.Leu497Ile					CC2D1A_ENST00000589606.1_Missense_Mutation_p.L497I	p.L497I	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		14	1730	+			497					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.1489C>A	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057218	0.76074	.	.	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000397486	T	0.59638	0.25	5.18	4.14	0.48551	Domain of unknown function DM14 (1);	0.000000	0.64402	D	0.000003	T	0.77519	0.4142	M	0.86502	2.82	0.52501	D	0.999958	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.991;0.997;0.997	T	0.81473	-0.0917	10	0.72032	D	0.01	-17.231	12.9732	0.58524	0.0:0.9184:0.0:0.0816	.	119;497;497	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	I	497;120;251	ENSP00000313601:L497I	ENSP00000254346:L120I	L	+	1	2	CC2D1A	13892583	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.610000	0.36869	2.420000	0.82092	0.555000	0.69702	CTA		0.647	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		12	11	1	0	6.40141e-05	1	6.61479e-05	12	11				
ZAN	7455	broad.mit.edu	37	7	100363053	100363053	+	RNA	SNP	G	G	A			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr7:100363053G>A	ENST00000348028.3	+	0	4511				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGATTCTCCGGCATGTTCTGC	0.617																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							53.0	56.0	55.0					7																	100363053		2129	4247	6376			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100363053G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100363053G>A						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4494	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	16.18	3.051045	0.55218	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	3.99	-0.0472	0.13844	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.190116	0.26079	N	0.026473	D	0.83454	0.5258	L	0.49126	1.545	0.09310	N	1	B;B	0.22146	0.053;0.065	B;B	0.29598	0.063;0.104	T	0.70124	-0.4958	10	0.39692	T	0.17	.	0.9326	0.01338	0.1781:0.2071:0.4031:0.2117	.	1449;1449	F5H0T8;Q9Y493	.;ZAN_HUMAN	D	1449;1449;1449;26	ENSP00000445943:G1449D;ENSP00000445091:G1449D;ENSP00000444427:G1449D;ENSP00000441117:G26D	ENSP00000423579:G1449D	G	+	2	0	ZAN	100200989	0.000000	0.05858	0.026000	0.17262	0.631000	0.37964	0.301000	0.19174	0.199000	0.20427	0.462000	0.41574	GGC		0.617	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	31	0	0	0	1	0	3	31				
PCDHA10	56139	broad.mit.edu	37	5	140236490	140236490	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr5:140236490C>T	ENST00000307360.5	+	1	857	c.857C>T	c.(856-858)cCc>cTc	p.P286L	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.P286L|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	286	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTCCCACCCACGATAAGA	0.358																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(856-858)cCc>cTc									71.0	71.0	71.0					5																	140236490		2196	4268	6464	SO:0001583	missense	56139							g.chr5:140236490C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.857C>T	5.37:g.140236490C>T	ENSP00000304234:p.Pro286Leu					PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.P286L|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.P286L	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	857	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.857C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0.352	-0.944440	0.02304	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.61510	0.1;0.1	4.29	2.46	0.29980	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.47563	0.1452	L	0.56396	1.775	0.09310	N	1	B;B;B	0.18741	0.019;0.03;0.0	B;B;B	0.21917	0.037;0.033;0.005	T	0.39187	-0.9626	9	0.30078	T	0.28	.	2.6923	0.05124	0.2877:0.394:0.2283:0.09	.	286;286;286	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	L	286	ENSP00000421030:P286L;ENSP00000304234:P286L	ENSP00000304234:P286L	P	+	2	0	PCDHA10	140216674	0.000000	0.05858	0.000000	0.03702	0.330000	0.28571	-2.324000	0.01116	0.534000	0.28695	0.561000	0.74099	CCC		0.358	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		25	4	0	0	0	1	0	25	4				
SMC6	79677	broad.mit.edu	37	2	17883154	17883154	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr2:17883154G>A	ENST00000448223.2	-	20	2434	c.2165C>T	c.(2164-2166)tCt>tTt	p.S722F	SMC6_ENST00000402989.1_Missense_Mutation_p.S722F|SMC6_ENST00000351948.4_Missense_Mutation_p.S722F|SMC6_ENST00000381272.4_Missense_Mutation_p.S748F	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	722					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCGAATTTCAGAAATATTTTT	0.249																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(2164-2166)tCt>tTt		structural maintenance of chromosomes 6							37.0	37.0	37.0					2																	17883154		2195	4286	6481	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17883154G>A	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.2165C>T	2.37:g.17883154G>A	ENSP00000404092:p.Ser722Phe					SMC6_ENST00000402989.1_Missense_Mutation_p.S722F|SMC6_ENST00000381272.4_Missense_Mutation_p.S748F|SMC6_ENST00000351948.4_Missense_Mutation_p.S722F	p.S722F	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			20	2434	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		722					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.2165C>T	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339736	0.41398	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.17	4.27	0.50696	RecF/RecN/SMC (1);	0.522298	0.21488	N	0.073730	T	0.19127	0.0459	N	0.08118	0	0.28377	N	0.919737	P;P	0.41214	0.557;0.742	B;B	0.43536	0.359;0.423	T	0.05037	-1.0910	10	0.51188	T	0.08	.	10.2774	0.43519	0.1528:0.0:0.8472:0.0	.	748;722	Q96SB8-2;Q96SB8	.;SMC6_HUMAN	F	722;722;748;722	ENSP00000404092:S722F;ENSP00000323439:S722F;ENSP00000370672:S748F;ENSP00000384539:S722F	ENSP00000323439:S722F	S	-	2	0	SMC6	17746635	0.318000	0.24598	0.996000	0.52242	0.960000	0.62799	1.736000	0.38187	2.565000	0.86533	0.585000	0.79938	TCT		0.249	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		12	26	0	0	0	1	0	12	26				
FCAR	2204	broad.mit.edu	37	19	55401054	55401054	+	Missense_Mutation	SNP	G	G	A	rs373544789		TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr19:55401054G>A	ENST00000355524.3	+	5	699	c.689G>A	c.(688-690)cGc>cAc	p.R230H	FCAR_ENST00000345937.4_Missense_Mutation_p.R134H|FCAR_ENST00000391723.3_Silent_p.P193P|FCAR_ENST00000359272.4_Missense_Mutation_p.R218H|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391724.3_Missense_Mutation_p.R196H|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000391726.3_Missense_Mutation_p.R122H|FCAR_ENST00000391725.3_Missense_Mutation_p.R208H|FCAR_ENST00000353758.4_Missense_Mutation_p.R121H	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	230					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R230H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		AACTTGATCCGCATGGCCGTG	0.532																																						ENST00000355524.3																			1	Substitution - Missense(1)	p.R230H(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24						c.(688-690)cGc>cAc		Fc fragment of IgA, receptor for		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,,HIS/ARG,HIS/ARG	0,4406		0,0,2203	331.0	324.0	326.0		689,623,401,653,365,579,362,587	1.6	0.0	19		326	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,coding-synonymous,missense,missense	FCAR	NM_002000.2,NM_133269.2,NM_133271.2,NM_133272.2,NM_133273.2,NM_133274.2,NM_133277.2,NM_133278.2	29,29,29,29,29,,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging,probably-damaging	230/288,208/266,134/192,218/276,122/180,193/210,121/179,196/254	55401054	2,13004	2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55401054G>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.689G>A	19.37:g.55401054G>A	ENSP00000347714:p.Arg230His					FCAR_ENST00000345937.4_Missense_Mutation_p.R134H|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000359272.4_Missense_Mutation_p.R218H|FCAR_ENST00000391724.3_Missense_Mutation_p.R196H|FCAR_ENST00000391723.3_Silent_p.P193P|FCAR_ENST00000353758.4_Missense_Mutation_p.R121H|FCAR_ENST00000391725.3_Missense_Mutation_p.R208H|FCAR_ENST00000391726.3_Missense_Mutation_p.R122H	p.R230H	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	5	699	+			230					Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.689G>A	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457348	0.43634	0.0	2.33E-4	ENSG00000186431	ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000353758;ENST00000359272;ENST00000391724	T;T;T;T;T;T;T	0.07021	3.23;6.57;5.7;4.23;6.17;6.46;5.58	3.9	1.58	0.23477	.	.	.	.	.	T	0.21841	0.0526	.	.	.	0.09310	N	1	D;D;D;P;D;D;P	0.89917	1.0;1.0;1.0;0.839;1.0;1.0;0.906	D;D;D;B;D;D;B	0.87578	0.998;0.996;0.96;0.265;0.998;0.96;0.442	T	0.05886	-1.0858	8	0.72032	D	0.01	.	5.5752	0.17218	0.2885:0.0:0.7115:0.0	.	121;196;122;218;208;134;230	Q92592;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071	.;.;.;.;.;.;FCAR_HUMAN	H	122;230;208;134;121;218;196	ENSP00000375606:R122H;ENSP00000347714:R230H;ENSP00000375605:R208H;ENSP00000338257:R134H;ENSP00000338058:R121H;ENSP00000352218:R218H;ENSP00000375604:R196H	ENSP00000338257:R134H	R	+	2	0	FCAR	60092866	0.033000	0.19621	0.002000	0.10522	0.095000	0.18619	0.647000	0.24812	0.332000	0.23536	0.557000	0.71058	CGC		0.532	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		5	355	0	0	0	1	0	5	355				
RFC5	5985	broad.mit.edu	37	12	118463630	118463630	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr12:118463630G>T	ENST00000454402.2	+	7	778	c.660G>T	c.(658-660)ttG>ttT	p.L220F	RFC5_ENST00000392542.2_Missense_Mutation_p.L199F|RFC5_ENST00000229043.3_Missense_Mutation_p.L135F	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	220					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAACATTTTGCAGGTATGGT	0.418																																						ENST00000392542.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9						c.(595-597)ttG>ttT		replication factor C (activator 1) 5, 36.5kDa							113.0	108.0	109.0					12																	118463630		2203	4300	6503	SO:0001583	missense	5985				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding	g.chr12:118463630G>T		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.660G>T	12.37:g.118463630G>T	ENSP00000408295:p.Leu220Phe					RFC5_ENST00000229043.3_Missense_Mutation_p.L135F|RFC5_ENST00000454402.2_Missense_Mutation_p.L220F	p.L199F	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN			8	1130	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		220					A8MZ62|B3KSX8	Missense_Mutation	SNP	ENST00000454402.2	37	c.597G>T	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.708144	0.68615	.	.	ENSG00000111445	ENST00000229043;ENST00000454402;ENST00000392542	T;T;T	0.53857	0.63;0.6;0.89	5.7	2.89	0.33648	.	0.000000	0.64402	D	0.000001	T	0.79557	0.4466	H	0.98754	4.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76113	-0.3078	10	0.87932	D	0	-5.1354	4.454	0.11635	0.2971:0.0:0.5563:0.1466	.	199;234;220	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	F	135;220;199	ENSP00000229043:L135F;ENSP00000408295:L220F;ENSP00000376325:L199F	ENSP00000229043:L135F	L	+	3	2	RFC5	116948013	1.000000	0.71417	0.930000	0.37139	0.993000	0.82548	3.010000	0.49559	0.335000	0.23614	-0.157000	0.13467	TTG		0.418	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		4	60	1	0	2.56e-06	1	2.73655e-06	4	60				
XDH	7498	broad.mit.edu	37	2	31628832	31628832	+	Splice_Site	SNP	T	T	C			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr2:31628832T>C	ENST00000379416.3	-	2	91		c.e2-2			NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CTCCACCACCTATTAAAATAA	0.383																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.e2-2		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						94.0	90.0	91.0					2																	31628832		2203	4300	6503	SO:0001630	splice_region_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31628832T>C	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.43-2A>G	2.37:g.31628832T>C								NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			2	91	-	Acute lymphoblastic leukemia(172;0.155)							Q16681|Q16712|Q4PJ16	Splice_Site	SNP	ENST00000379416.3	37		CCDS1775.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456614	0.63401	.	.	ENSG00000158125	ENST00000379416	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0379	0.64656	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	XDH	31482336	1.000000	0.71417	0.932000	0.37286	0.728000	0.41692	6.726000	0.74758	2.194000	0.70268	0.379000	0.24179	.		0.383	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	Intron	17	40	0	0	0	1	0	17	40				
PCED1A	64773	broad.mit.edu	37	20	2819277	2819277	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr20:2819277C>T	ENST00000360652.2	-	5	1061	c.559G>A	c.(559-561)Ggg>Agg	p.G187R	VPS16_ENST00000380445.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.G136R|VPS16_ENST00000380469.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	187																	ATACGTTCCCCGAGGGGCATC	0.577																																						ENST00000360652.2																			0											c.(559-561)Ggg>Agg		PC-esterase domain containing 1A							119.0	103.0	108.0					20																	2819277		2203	4300	6503	SO:0001583	missense	64773							g.chr20:2819277C>T	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.559G>A	20.37:g.2819277C>T	ENSP00000353868:p.Gly187Arg					PCED1A_ENST00000356872.3_Missense_Mutation_p.G136R	p.G187R	NM_022760.3	NP_073597.2					5	1061	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	c.559G>A	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652387	0.67472	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000448755;ENST00000439542	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	3.7	3.7	0.42460	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.39009	0.1062	M	0.73598	2.24	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.76071	0.969;0.987	T	0.29243	-1.0018	10	0.87932	D	0	-10.7896	11.1451	0.48426	0.0:1.0:0.0:0.0	.	136;187	Q9H1Q7-2;Q9H1Q7	.;F113A_HUMAN	R	136;187;136;187	ENSP00000349334:G136R;ENSP00000353868:G187R;ENSP00000388935:G136R;ENSP00000401711:G187R	ENSP00000349334:G136R	G	-	1	0	FAM113A	2767277	1.000000	0.71417	0.959000	0.39883	0.836000	0.47400	5.890000	0.69774	2.101000	0.63845	0.462000	0.41574	GGG		0.577	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		27	45	0	0	0	1	0	27	45				
ZNF462	58499	broad.mit.edu	37	9	109688235	109688235	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr9:109688235A>G	ENST00000277225.5	+	3	2331	c.2042A>G	c.(2041-2043)aAt>aGt	p.N681S	ZNF462_ENST00000457913.1_Missense_Mutation_p.N681S|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	681					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGCTCGCCAATGACTTTCCT	0.448																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2041-2043)aAt>aGt		zinc finger protein 462							186.0	191.0	190.0					9																	109688235		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688235A>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2042A>G	9.37:g.109688235A>G	ENSP00000277225:p.Asn681Ser					ZNF462_ENST00000457913.1_Missense_Mutation_p.N681S	p.N681S			Q96JM2	ZN462_HUMAN			3	2331	+			681					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.2042A>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	A	8.970	0.972659	0.18736	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.07688	3.17;3.61	5.87	0.839	0.18907	.	0.132003	0.64402	N	0.000002	T	0.05502	0.0145	L	0.29908	0.895	0.80722	D	1	B;B	0.26081	0.141;0.001	B;B	0.22753	0.041;0.003	T	0.45071	-0.9286	9	.	.	.	.	8.9195	0.35604	0.723:0.0:0.277:0.0	.	681;681	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	S	681	ENSP00000277225:N681S;ENSP00000414570:N681S	.	N	+	2	0	ZNF462	108728056	1.000000	0.71417	0.957000	0.39632	0.928000	0.56348	4.956000	0.63645	-0.088000	0.12506	-0.256000	0.11100	AAT		0.448	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		18	145	0	0	0	1	0	18	145				
C1GALT1	56913	broad.mit.edu	37	7	7283232	7283232	+	Silent	SNP	C	C	T			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr7:7283232C>T	ENST00000223122.3	+	3	1028	c.966C>T	c.(964-966)ctC>ctT	p.L322L	C1GALT1_ENST00000436587.2_Silent_p.L322L			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	322					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TAGAATACCTCGTTTATCATC	0.353																																						ENST00000436587.2																			0				breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(964-966)ctC>ctT		core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1							178.0	167.0	170.0					7																	7283232		2203	4300	6503	SO:0001819	synonymous_variant	56913				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding	g.chr7:7283232C>T	AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"""Beta 3-glycosyltransferases"""	24337	protein-coding gene	gene with protein product	"""core 1 beta3-Gal-T"""	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.966C>T	7.37:g.7283232C>T						C1GALT1_ENST00000223122.2_Silent_p.L322L	p.L322L	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	4	1189	+			322					Q96QH4|Q9BTU1	Silent	SNP	ENST00000223122.3	37	c.966C>T	CCDS5355.1																																																																																				0.353	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156		4	152	0	0	0	1	0	4	152				
KRT14	3861	broad.mit.edu	37	17	39740077	39740077	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr17:39740077G>A	ENST00000167586.6	-	4	948	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	288	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TACTGGTCACGCATCTCGTTC	0.557																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(862-864)Cgt>Tgt		keratin 14							202.0	171.0	182.0					17																	39740077		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740077G>A	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.862C>T	17.37:g.39740077G>A	ENSP00000167586:p.Arg288Cys						p.R288C	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			4	948	-		Breast(137;0.000307)	288			Coil 2.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.862C>T	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725912	0.69074	.	.	ENSG00000186847	ENST00000167586	D	0.93426	-3.22	5.11	5.11	0.69529	Prefoldin (1);Filament (1);	0.000000	0.51477	D	0.000089	D	0.97511	0.9185	H	0.99682	4.7	0.58432	D	0.999999	D	0.56746	0.977	P	0.53809	0.735	D	0.97915	1.0311	10	0.87932	D	0	.	11.0536	0.47905	0.0:0.138:0.7192:0.1429	.	288	P02533	K1C14_HUMAN	C	288	ENSP00000167586:R288C	ENSP00000167586:R288C	R	-	1	0	KRT14	36993603	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	0.994000	0.29693	2.523000	0.85059	0.655000	0.94253	CGT		0.557	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		4	123	0	0	0	1	0	4	123				
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs369119448|rs112443847		TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716																																						ENST00000268489.5																			3	Substitution - coding silent(3)	p.G3519G(3)	lung(2)|prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10555-10557)ggT>ggC		zinc finger homeobox 3							9.0	13.0	11.0					16																	72821618		1463	3169	4632	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821618A>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10557T>C	16.37:g.72821618A>G						ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	p.G3519G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11229	-		Ovarian(137;0.13)	3519			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10557T>C	CCDS10908.1																																																																																				0.716	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	27	0	0	0	1	0	3	27				
PLP1	5354	broad.mit.edu	37	X	103040511	103040511	+	Splice_Site	SNP	G	G	A			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chrX:103040511G>A	ENST00000303958.2	+	2	151	c.5G>A	c.(4-6)gGc>gAc	p.G2D	PLP1_ENST00000361621.2_Splice_Site_p.G2D|PLP1_ENST00000418604.1_Splice_Site_p.G2D	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	2					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TCTTCCCCAGGCTTGTTAGAG	0.562																																						ENST00000418604.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.e3-1		proteolipid protein 1							170.0	164.0	166.0					X																	103040511		2203	4300	6503	SO:0001630	splice_region_variant	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103040511G>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.5-1G>A	X.37:g.103040511G>A						PLP1_ENST00000303958.2_Splice_Site_p.G2_splice|PLP1_ENST00000361621.2_Splice_Site_p.G2_splice	p.G2_splice	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN			3	285	+			2					P04400|P06905|Q502Y1|Q6FHZ6	Splice_Site	SNP	ENST00000303958.2	37	c.4_splice	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655077	0.88056	.	.	ENSG00000123560	ENST00000434483;ENST00000429977;ENST00000455268;ENST00000422393;ENST00000433491;ENST00000418604;ENST00000443502;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D;D;D;D;D;D;D	0.99719	-6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	M	0.62088	1.915	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.982	D	0.98487	1.0608	9	.	.	.	.	15.5899	0.76521	0.0:0.0:1.0:0.0	.	2;2	P60201;P60201-2	MYPR_HUMAN;.	D	2	ENSP00000403335:G2D;ENSP00000399913:G2D;ENSP00000409802:G2D;ENSP00000413931:G2D;ENSP00000393391:G2D;ENSP00000405750:G2D;ENSP00000391853:G2D;ENSP00000305152:G2D;ENSP00000354860:G2D	.	G	+	2	0	PLP1	102927167	1.000000	0.71417	0.973000	0.42090	0.953000	0.61014	9.410000	0.97335	2.275000	0.75901	0.600000	0.82982	GGC		0.562	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2		Missense_Mutation	65	19	0	0	0	1	0	65	19				
COG2	22796	broad.mit.edu	37	1	230825896	230825896	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr1:230825896A>G	ENST00000366669.4	+	16	2046	c.1931A>G	c.(1930-1932)cAt>cGt	p.H644R	COG2_ENST00000534989.1_Missense_Mutation_p.H585R|COG2_ENST00000546013.1_Missense_Mutation_p.H333R|COG2_ENST00000366668.3_Missense_Mutation_p.H643R|COG2_ENST00000535166.1_Missense_Mutation_p.H528R|COG2_ENST00000490900.1_3'UTR	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	644					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GAAAGCACTCATAAGTAAGTA	0.473																																						ENST00000534989.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.(1753-1755)cAt>cGt		component of oligomeric golgi complex 2							77.0	77.0	77.0					1																	230825896		2203	4300	6503	SO:0001583	missense	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230825896A>G	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1931A>G	1.37:g.230825896A>G	ENSP00000355629:p.His644Arg					COG2_ENST00000546013.1_Missense_Mutation_p.H333R|COG2_ENST00000535166.1_Missense_Mutation_p.H528R|COG2_ENST00000366669.4_Missense_Mutation_p.H644R|COG2_ENST00000366668.3_Missense_Mutation_p.H643R	p.H585R			Q14746	COG2_HUMAN			16	2089	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	644					Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	c.1754A>G	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	A	6.848	0.525659	0.13066	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.91	4.8	0.61643	COG complex component, COG2, C-terminal (1);	0.286853	0.45867	D	0.000335	T	0.29850	0.0746	L	0.40543	1.245	0.45704	D	0.998618	B;B	0.13594	0.008;0.001	B;B	0.11329	0.006;0.006	T	0.10965	-1.0607	10	0.19590	T	0.45	-24.5155	7.4743	0.27368	0.7849:0.1438:0.0713:0.0	.	643;644	Q86U99;Q14746	.;COG2_HUMAN	R	644;528;643;585;333	ENSP00000355629:H644R;ENSP00000445724:H528R;ENSP00000355628:H643R;ENSP00000440349:H585R;ENSP00000442147:H333R	ENSP00000355628:H643R	H	+	2	0	COG2	228892519	0.997000	0.39634	0.960000	0.40013	0.076000	0.17211	4.592000	0.61027	2.266000	0.75297	0.533000	0.62120	CAT		0.473	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		34	47	0	0	0	1	0	34	47				
EVC	2121	broad.mit.edu	37	4	5720980	5720980	+	Silent	SNP	C	C	T			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr4:5720980C>T	ENST00000264956.6	+	2	364	c.180C>T	c.(178-180)gaC>gaT	p.D60D	EVC_ENST00000382674.2_Silent_p.D60D|EVC_ENST00000509451.1_Silent_p.D60D	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	60					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TTTAGAAAGACGACACTCAAA	0.522																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(178-180)gaC>gaT		Ellis van Creveld syndrome							145.0	153.0	151.0					4																	5720980		2203	4300	6503	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5720980C>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.180C>T	4.37:g.5720980C>T						EVC_ENST00000509451.1_Silent_p.D60D|EVC_ENST00000264956.6_Silent_p.D60D	p.D60D			P57679	EVC_HUMAN			2	364	+		Myeloproliferative disorder(84;0.117)	60						Silent	SNP	ENST00000264956.6	37	c.180C>T	CCDS3383.1																																																																																				0.522	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			44	70	0	0	0	1	0	44	70				
IPPK	64768	broad.mit.edu	37	9	95414857	95414857	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr9:95414857G>C	ENST00000287996.3	-	4	566	c.290C>G	c.(289-291)cCa>cGa	p.P97R		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	97					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						ACCCTTACCTGGTCTTTCAGA	0.313																																						ENST00000287996.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						c.(289-291)cCa>cGa		inositol 1,3,4,5,6-pentakisphosphate 2-kinase							84.0	84.0	84.0					9																	95414857		2203	4300	6503	SO:0001583	missense	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95414857G>C	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.290C>G	9.37:g.95414857G>C	ENSP00000287996:p.Pro97Arg						p.P97R	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN			4	566	-			97					Q5T9F7|Q9H7V8	Missense_Mutation	SNP	ENST00000287996.3	37	c.290C>G	CCDS6699.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355046	0.61293	.	.	ENSG00000127080	ENST00000287996	T	0.36520	1.25	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.61198	0.2328	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66830	-0.5824	10	0.87932	D	0	-21.5322	16.6593	0.85237	0.0:0.0:1.0:0.0	.	97	Q9H8X2	IPPK_HUMAN	R	97	ENSP00000287996:P97R	ENSP00000287996:P97R	P	-	2	0	IPPK	94454678	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	7.088000	0.76901	2.306000	0.77630	0.195000	0.17529	CCA		0.313	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		40	61	0	0	0	1	0	40	61				
NCKAP1	10787	broad.mit.edu	37	2	183832016	183832016	+	Missense_Mutation	SNP	A	A	G	rs536354356		TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr2:183832016A>G	ENST00000361354.4	-	16	1928	c.1556T>C	c.(1555-1557)aTa>aCa	p.I519T	NCKAP1_ENST00000360982.2_Missense_Mutation_p.I525T	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	519					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATGAAAAATTATTGTATTCAT	0.333													A|||	1	0.000199681	0.0	0.0	5008	,	,		18409	0.001		0.0	False		,,,				2504	0.0					ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(1573-1575)aTa>aCa		NCK-associated protein 1							111.0	114.0	113.0					2																	183832016		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183832016A>G	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1556T>C	2.37:g.183832016A>G	ENSP00000355348:p.Ile519Thr					NCKAP1_ENST00000361354.3_Missense_Mutation_p.I519T	p.I525T	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		17	2332	-			519					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.1574T>C	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.820161	0.50633	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.32515	1.45;1.45	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	L	0.28458	0.855	0.80722	D	1	B;B	0.30914	0.3;0.256	B;B	0.34242	0.178;0.112	T	0.05419	-1.0886	10	0.20046	T	0.44	-20.0477	15.4424	0.75195	1.0:0.0:0.0:0.0	.	519;525	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	T	519;525	ENSP00000355348:I519T;ENSP00000354251:I525T	ENSP00000354251:I525T	I	-	2	0	NCKAP1	183540261	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.287000	0.95975	2.039000	0.60335	0.482000	0.46254	ATA		0.333	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		41	53	0	0	0	1	0	41	53				
HNRNPCL1	343069	broad.mit.edu	37	1	12907458	12907458	+	Missense_Mutation	SNP	T	T	C	rs200282759	byFrequency	TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr1:12907458T>C	ENST00000317869.6	-	2	910	c.685A>G	c.(685-687)Atg>Gtg	p.M229V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	229						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCTTTCTTCATGGAGCTACTG	0.458																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(685-687)Atg>Gtg		heterogeneous nuclear ribonucleoprotein C-like 1							110.0	112.0	112.0					1																	12907458		2203	4297	6500	SO:0001583	missense	343069							g.chr1:12907458T>C	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.685A>G	1.37:g.12907458T>C	ENSP00000365370:p.Met229Val						p.M229V	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	910	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.685A>G	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.367597	0.00015	.	.	ENSG00000179172	ENST00000317869	T	0.08807	3.05	1.09	-1.67	0.08238	.	33.202900	0.00166	N	0.000000	T	0.02727	0.0082	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.34750	-0.9816	10	0.24483	T	0.36	.	3.6976	0.08371	0.0:0.2307:0.2991:0.4701	.	229	O60812	HNRCL_HUMAN	V	229	ENSP00000365370:M229V	ENSP00000365370:M229V	M	-	1	0	HNRNPCL1	12830045	0.986000	0.35501	0.919000	0.36401	0.078000	0.17371	0.226000	0.17776	-0.440000	0.07211	-2.072000	0.00384	ATG		0.458	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		5	68	0	0	0	1	0	5	68				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170029	20170029	+	RNA	SNP	C	C	T			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr15:20170029C>T	ENST00000338912.5	-	0	242									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		CCTGGAACTTCTGTGCATAGC	0.547																																						ENST00000338912.5																			0																				159.0	154.0	156.0					15																	20170029		2104	4233	6337			390531							g.chr15:20170029C>T	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170029C>T														0	242	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.547	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			4	162	0	0	0	1	0	4	162				
ZNF629	23361	broad.mit.edu	37	16	30793592	30793592	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr16:30793592T>C	ENST00000262525.4	-	3	2264	c.2057A>G	c.(2056-2058)aAc>aGc	p.N686S	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	686					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGGCTTTTCGTTGCCGTGGGT	0.572																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(2056-2058)aAc>aGc		zinc finger protein 629							27.0	28.0	28.0					16																	30793592		2020	4177	6197	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793592T>C	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2057A>G	16.37:g.30793592T>C	ENSP00000262525:p.Asn686Ser						p.N686S	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2264	-			686					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.2057A>G	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	T	9.099	1.003778	0.19199	.	.	ENSG00000102870	ENST00000262525	T	0.60040	0.22	5.18	-4.49	0.03504	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.344488	0.20762	N	0.086147	T	0.32346	0.0826	N	0.11724	0.165	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.08452	-1.0721	10	0.66056	D	0.02	-16.9187	9.8371	0.40975	0.0:0.5331:0.1243:0.3426	.	686	Q9UEG4	ZN629_HUMAN	S	686	ENSP00000262525:N686S	ENSP00000262525:N686S	N	-	2	0	ZNF629	30701093	0.000000	0.05858	0.010000	0.14722	0.981000	0.71138	-0.375000	0.07475	-1.170000	0.02769	0.459000	0.35465	AAC		0.572	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		3	14	0	0	0	1	0	3	14				
RSU1P2	100133308	broad.mit.edu	37	10	45602582	45602582	+	RNA	SNP	T	T	C			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr10:45602582T>C	ENST00000423875.1	-	0	854									Ras suppressor protein 1 pseudogene 2																		ACCCAACCATTTGAGGTCTGA	0.443																																						ENST00000423875.1																			0																																																			100133308							g.chr10:45602582T>C			10q11.21	2013-06-03			ENSG00000242848	ENSG00000232554			44391	pseudogene	pseudogene							Standard	NR_024472		Approved		uc009xmq.2		OTTHUMG00000185442		10.37:g.45602582T>C														0	854	-									RNA	SNP	ENST00000423875.1	37																																																																																						0.443	RSU1P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471233.1			24	6	0	0	0	1	0	24	6				
SOX13	9580	broad.mit.edu	37	1	204083473	204083473	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr1:204083473delG	ENST00000367204.1	+	3	353	c.244delG	c.(244-246)gggfs	p.G82fs	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	82					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAGGGTAATGGGTCCCCAGA	0.552																																						ENST00000367204.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(244-246)ggfs		SRY (sex determining region Y)-box 13							37.0	38.0	38.0					1																	204083473		1906	4124	6030	SO:0001589	frameshift_variant	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204083473delG		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.244delG	1.37:g.204083473delG	ENSP00000356172:p.Gly82fs					SOX13_ENST00000367203.4_3'UTR	p.G82fs	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		3	353	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		82					B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Frame_Shift_Del	DEL	ENST00000367204.1	37	c.244delG	CCDS44299.1																																																																																				0.552	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		2	4						2	4	---	---	---	---
ANO10	55129	broad.mit.edu	37	3	43647213	43647213	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr3:43647213delT	ENST00000292246.3	-	2	302	c.132delA	c.(130-132)aaafs	p.K44fs	ANO10_ENST00000414522.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.K44fs|ANO10_ENST00000451430.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000396091.3_Frame_Shift_Del_p.K44fs	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	44					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CACCTCCATCTTTTTTTTTAG	0.408																																						ENST00000292246.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						c.(130-132)aafs		anoctamin 10							142.0	128.0	133.0					3																	43647213		2203	4300	6503	SO:0001589	frameshift_variant	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43647213delT	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.132delA	3.37:g.43647213delT	ENSP00000292246:p.Lys44fs					ANO10_ENST00000350459.4_Frame_Shift_Del_p.K44fs|ANO10_ENST00000414522.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000451430.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000396091.3_Frame_Shift_Del_p.K44fs	p.K44fs	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN			2	302	-			44					A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Frame_Shift_Del	DEL	ENST00000292246.3	37	c.132delA	CCDS2710.2																																																																																				0.408	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		7	89						7	89	---	---	---	---
P4HTM	54681	broad.mit.edu	37	3	49027893	49027894	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr3:49027893_49027894insCA	ENST00000383729.4	+	1	575_576	c.204_205insCA	c.(205-207)cacfs	p.H69fs	RP13-131K19.2_ENST00000452042.1_RNA|P4HTM_ENST00000609406.1_3'UTR|P4HTM_ENST00000343546.4_Frame_Shift_Ins_p.H69fs	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	69						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TGGTGTTCGTGCACCTGTACCT	0.693																																						ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(202-207)gtacctfs		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49027893_49027894insCA		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.205_206dupCA	3.37:g.49027894_49027895dupCA	ENSP00000373235:p.His69fs					P4HTM_ENST00000383729.4_Frame_Shift_Ins_p.P69fs	p.P69fs	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			1	572_573	+			69					Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Frame_Shift_Ins	INS	ENST00000383729.4	37	c.204_205insCA	CCDS43089.1																																																																																				0.693	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		7	34						7	34	---	---	---	---
ZNF367	195828	broad.mit.edu	37	9	99180259	99180261	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr9:99180259_99180261delGGC	ENST00000375256.4	-	1	350_352	c.54_56delGCC	c.(52-57)ccgccc>ccc	p.18_19PP>P		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	18	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GAAGATGACGggcggcggcggcg	0.749																																						ENST00000375256.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12						c.(52-57)ccc>cc		zinc finger protein 367				4,25,1685		2,0,0,5,15,835						-6.2	0.8			4	71,80,4193		15,1,40,6,67,2043	no	codingComplex	ZNF367	NM_153695.3		17,1,40,11,82,2878	A1A1,A1A2,A1R,A2A2,A2R,RR		3.4761,1.6919,2.9713				75,105,5878				SO:0001651	inframe_deletion	195828				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:99180259_99180261delGGC	AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"""Zinc fingers, C2H2-type"""	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.54_56delGCC	9.37:g.99180268_99180270delGGC	ENSP00000364405:p.Pro19del						p.PP18del	NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN			1	350_352	-		Acute lymphoblastic leukemia(62;0.0167)	18			Pro-rich.		Q6Q7C8	In_Frame_Del	DEL	ENST00000375256.4	37	c.54_56delGCC	CCDS6718.1																																																																																				0.749	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1			2	4						2	4	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-	rs377012965		TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAA	0.388																																						ENST00000511537.1																			0																																																			399881							g.chr11:43283606delA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283606delA								NR_033868.1						0	1329	-									RNA	DEL	ENST00000511537.1	37																																																																																						0.388	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		4	9						4	9	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79058183	79058184	+	Frame_Shift_Ins	INS	-	-	TGGGTCC			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr15:79058183_79058184insTGGGTCC	ENST00000388820.4	-	19	4279_4280	c.4069_4070insGGACCCA	c.(4069-4071)aagfs	p.K1357fs	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1357					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGGCTGACCCTTGGGTCCTGGG	0.653																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4069-4071)gggfs		ADAM metallopeptidase with thrombospondin type 1 motif, 7				119,2525		11,97,1214						-5.9	0.0			8	119,5765		2,115,2825	no	frameshift	ADAMTS7	NM_014272.3		13,212,4039	A1A1,A1R,RR		2.0224,4.5008,2.7908				238,8290				SO:0001589	frameshift_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79058183_79058184insTGGGTCC	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4063_4069dupGGACCCA	15.37:g.79058184_79058190dupTGGGTCC	ENSP00000373472:p.Lys1357fs						p.-1357fs	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	4279_4280	-								Q14F51|Q6P7J9	Frame_Shift_Ins	INS	ENST00000388820.4	37	c.4069_4070insGGACCCA	CCDS32303.1																																																																																				0.653	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	4						3	4	---	---	---	---
GRIN3B	116444	broad.mit.edu	37	19	1009186	1009188	+	In_Frame_Del	DEL	AGC	AGC	-	rs142853420	byFrequency	TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr19:1009186_1009188delAGC	ENST00000234389.3	+	9	2736_2738	c.2717_2719delAGC	c.(2716-2721)gagcag>gag	p.Q912del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	912					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCGAGGTGGagcagcagcagca	0.744														602	0.120208	0.0983	0.0677	5008	,	,		9784	0.1657		0.0815	False		,,,				2504	0.18					ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(2716-2721)gag>g		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)																																			SO:0001651	inframe_deletion	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1009186_1009188delAGC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2717_2719delAGC	19.37:g.1009195_1009197delAGC	ENSP00000234389:p.Gln912del						p.EQ906del	NM_138690.1	NP_619635.1	O60391	NMD3B_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)	9	2736_2738	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	906					Q5EAK7|Q7RTW9	In_Frame_Del	DEL	ENST00000234389.3	37	c.2717_2719delAGC	CCDS32861.1																																																																																				0.744	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			2	4						2	4	---	---	---	---
MAN2B1	4125	broad.mit.edu	37	19	12758270	12758271	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr19:12758270_12758271insT	ENST00000456935.2	-	22	2846_2847	c.2806_2807insA	c.(2806-2808)accfs	p.T936fs	CTD-2192J16.22_ENST00000597692.1_Frame_Shift_Ins_p.Y122fs|MAN2B1_ENST00000221363.4_Frame_Shift_Ins_p.T935fs	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	936					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAAGTTCAAGGTAACGGGGGCG	0.579																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2806-2808)cttfs		mannosidase, alpha, class 2B, member 1																																				SO:0001589	frameshift_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12758270_12758271insT		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2807dupA	19.37:g.12758271_12758271dupT	ENSP00000395473:p.Thr936fs					MAN2B1_ENST00000221363.4_Frame_Shift_Ins_p.L935fs|CTD-2192J16.22_ENST00000597692.1_Frame_Shift_Ins_p.S122fs	p.L936fs	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			22	2846_2847	-			936					G5E928|O15330|Q16680|Q93094|Q9BW13	Frame_Shift_Ins	INS	ENST00000456935.2	37	c.2806_2807insA	CCDS32919.1																																																																																				0.579	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			52	80						52	80	---	---	---	---
