#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
SLC18A2	6571	broad.mit.edu	37	10	119003664	119003664	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr10:119003664G>A	ENST00000298472.5	+	3	447	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	SLC18A2_ENST00000497497.1_3'UTR|RP11-501J20.5_ENST00000425264.1_RNA	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	102					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCATCAGACCGCCACACAGCA	0.507																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(304-306)Gcc>Acc		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						119.0	103.0	109.0					10																	119003664		2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119003664G>A	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.304G>A	10.37:g.119003664G>A	ENSP00000298472:p.Ala102Thr					SLC18A2_ENST00000497497.1_3'UTR	p.A102T	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	3	447	+		Colorectal(252;0.19)	102					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.304G>A	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.450505	0.01080	.	.	ENSG00000165646	ENST00000298472	T	0.03689	3.84	5.58	2.92	0.33932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	3.673820	0.00397	N	0.000058	T	0.01523	0.0049	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42172	-0.9467	10	0.09843	T	0.71	-21.0331	5.456	0.16590	0.618:0.1991:0.183:0.0	.	102	Q05940	VMAT2_HUMAN	T	102	ENSP00000298472:A102T	ENSP00000298472:A102T	A	+	1	0	SLC18A2	118993654	0.000000	0.05858	0.954000	0.39281	0.105000	0.19272	0.406000	0.21032	0.968000	0.38212	-0.339000	0.08088	GCC		0.507	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		4	102	0	0	0	1	0	4	102				
KIAA1614	57710	broad.mit.edu	37	1	180904874	180904874	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr1:180904874C>G	ENST00000367588.4	+	5	1884	c.1829C>G	c.(1828-1830)tCt>tGt	p.S610C	KIAA1614_ENST00000367587.1_Missense_Mutation_p.S231C	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	610										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GAGGTGGACTCTGCCCTGGAC	0.652																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(1828-1830)tCt>tGt		KIAA1614							27.0	32.0	30.0					1																	180904874		2176	4262	6438	SO:0001583	missense	57710							g.chr1:180904874C>G	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1829C>G	1.37:g.180904874C>G	ENSP00000356560:p.Ser610Cys					KIAA1614_ENST00000367587.1_Missense_Mutation_p.S231C	p.S610C	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			5	1884	+			610					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.1829C>G	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	c	15.06	2.720021	0.48728	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.53857	1.11;0.6	4.96	4.96	0.65561	.	0.351261	0.28125	N	0.016513	T	0.68513	0.3009	L	0.61218	1.895	0.31697	N	0.6411020000000001	D	0.89917	1.0	D	0.66351	0.943	T	0.74881	-0.3513	9	0.62326	D	0.03	-3.0454	15.9644	0.79956	0.0:1.0:0.0:0.0	.	610	Q5VZ46	K1614_HUMAN	C	610;231	ENSP00000356560:S610C;ENSP00000356559:S231C	ENSP00000356559:S231C	S	+	2	0	KIAA1614	179171497	0.980000	0.34600	0.352000	0.25734	0.007000	0.05969	2.549000	0.45803	2.281000	0.76405	0.556000	0.70494	TCT		0.652	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		11	21	0	0	0	1	0	11	21				
CHAMP1	283489	broad.mit.edu	37	13	115089515	115089515	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr13:115089515A>T	ENST00000361283.1	+	3	507	c.198A>T	c.(196-198)aaA>aaT	p.K66N		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	66					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										ACTGCCATAAATGCTTCTTCA	0.378																																						ENST00000361283.1																			0											c.(196-198)aaA>aaT		chromosome alignment maintaining phosphoprotein 1							92.0	86.0	88.0					13																	115089515		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115089515A>T	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.198A>T	13.37:g.115089515A>T	ENSP00000354730:p.Lys66Asn						p.K66N	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	507	+			66					B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.198A>T	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.160234	0.78226	.	.	ENSG00000198824	ENST00000361283	T	0.01464	4.86	5.96	0.286	0.15710	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000011	T	0.04048	0.0113	L	0.32530	0.975	0.35578	D	0.806014	D	0.89917	1.0	D	0.76575	0.988	T	0.49072	-0.8977	9	.	.	.	-12.9859	9.2279	0.37418	0.6339:0.0:0.3661:0.0	.	66	Q96JM3	ZN828_HUMAN	N	66	ENSP00000354730:K66N	.	K	+	3	2	ZNF828	114107617	0.999000	0.42202	0.997000	0.53966	0.998000	0.95712	0.528000	0.23002	-0.164000	0.10927	0.533000	0.62120	AAA		0.378	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		12	21	0	0	0	1	0	12	21				
TP53BP1	7158	broad.mit.edu	37	15	43738617	43738617	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr15:43738617G>A	ENST00000263801.3	-	14	3245	c.2993C>T	c.(2992-2994)gCg>gTg	p.A998V	TP53BP1_ENST00000382039.3_Missense_Mutation_p.A1003V|TP53BP1_ENST00000450115.2_Missense_Mutation_p.A1003V|TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000382044.4_Missense_Mutation_p.A1003V	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	998					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTCTTCACTCGCCTCAGTCTC	0.418								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(2992-2994)gCg>gTg	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							94.0	92.0	93.0					15																	43738617		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43738617G>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2993C>T	15.37:g.43738617G>A	ENSP00000263801:p.Ala998Val					TP53BP1_ENST00000450115.2_Missense_Mutation_p.A1003V|TP53BP1_ENST00000382039.3_Missense_Mutation_p.A1003V|TP53BP1_ENST00000382044.4_Missense_Mutation_p.A1003V	p.A998V	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	14	3245	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	998					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.2993C>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262731	0.39995	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.10860	3.66;3.66;3.65;3.65;2.83	5.44	4.51	0.55191	.	0.498356	0.20359	N	0.093889	T	0.10508	0.0257	L	0.53249	1.67	0.24052	N	0.996043	P;P;P;P	0.46859	0.885;0.571;0.697;0.697	B;B;B;B	0.38156	0.266;0.065;0.137;0.137	T	0.20472	-1.0274	10	0.30854	T	0.27	-0.3057	9.8465	0.41030	0.0:0.2994:0.5624:0.1382	.	1003;998;1003;1003	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	V	998;1003;1003;1003;963	ENSP00000263801:A998V;ENSP00000371475:A1003V;ENSP00000371470:A1003V;ENSP00000393497:A1003V;ENSP00000388028:A963V	ENSP00000263801:A998V	A	-	2	0	TP53BP1	41525909	0.899000	0.30636	0.913000	0.36048	0.997000	0.91878	1.747000	0.38298	1.382000	0.46385	0.655000	0.94253	GCG		0.418	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			34	34	0	0	0	1	0	34	34				
PLIN3	10226	broad.mit.edu	37	19	4852306	4852306	+	Missense_Mutation	SNP	G	G	A	rs146293739	byFrequency	TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr19:4852306G>A	ENST00000221957.4	-	5	532	c.356C>T	c.(355-357)gCg>gTg	p.A119V	PLIN3_ENST00000585479.1_Missense_Mutation_p.A119V|PLIN3_ENST00000592528.1_Intron	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	119					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CTTGGTGTCCGCCAGGACCTA	0.627																																						ENST00000221957.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(355-357)gCg>gTg		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)	G	VAL/ALA,,VAL/ALA	0,4406		0,0,2203	49.0	44.0	46.0		356,,356	4.1	0.9	19	dbSNP_134	46	2,8598	2.2+/-6.3	0,2,4298	no	missense,intron,missense	PLIN3	NM_001164189.1,NM_001164194.1,NM_005817.4	64,,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,,probably-damaging	119/434,,119/435	4852306	2,13004	2203	4300	6503	SO:0001583	missense	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4852306G>A	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.356C>T	19.37:g.4852306G>A	ENSP00000221957:p.Ala119Val					PLIN3_ENST00000592528.1_Intron|PLIN3_ENST00000585479.1_Missense_Mutation_p.A119V	p.A119V	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN			5	532	-			119					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	c.356C>T	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.782049	0.49891	0.0	2.33E-4	ENSG00000105355	ENST00000221957	T	0.06068	3.35	5.16	4.09	0.47781	.	0.441692	0.18382	U	0.142940	T	0.12135	0.0295	M	0.82823	2.61	0.36542	D	0.871345	B;B	0.28512	0.179;0.214	B;B	0.25405	0.036;0.06	T	0.03112	-1.1071	10	0.72032	D	0.01	-21.4932	11.8528	0.52422	0.0:0.0:0.8245:0.1754	.	119;119	O60664-3;O60664	.;PLIN3_HUMAN	V	119	ENSP00000221957:A119V	ENSP00000221957:A119V	A	-	2	0	PLIN3	4803306	0.009000	0.17119	0.862000	0.33874	0.282000	0.26991	1.168000	0.31859	1.121000	0.41925	0.555000	0.69702	GCG		0.627	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		3	47	0	0	0	1	0	3	47				
MTMR4	9110	broad.mit.edu	37	17	56582844	56582844	+	Silent	SNP	C	C	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr17:56582844C>T	ENST00000323456.5	-	11	1216	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	MTMR4_ENST00000579925.1_Silent_p.P364P	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	364	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCTAGGATCCGGCATCTGGC	0.493																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(1090-1092)ccG>ccA		myotubularin related protein 4							111.0	95.0	101.0					17																	56582844		2203	4300	6503	SO:0001819	synonymous_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56582844C>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1092G>A	17.37:g.56582844C>T						MTMR4_ENST00000579925.1_Silent_p.P364P	p.P364P	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			11	1216	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		364			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	ENST00000323456.5	37	c.1092G>A	CCDS11608.1																																																																																				0.493	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		22	34	0	0	0	1	0	22	34				
BRWD1	54014	broad.mit.edu	37	21	40596364	40596364	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr21:40596364G>A	ENST00000333229.2	-	29	3679	c.3352C>T	c.(3352-3354)Cca>Tca	p.P1118S	BRWD1_ENST00000342449.3_Missense_Mutation_p.P1118S|BRWD1_ENST00000380800.3_Missense_Mutation_p.P1118S	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1118					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATGTCCCATGGGCTAAGTTTT	0.294																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(3352-3354)Cca>Tca		bromodomain and WD repeat domain containing 1							81.0	86.0	84.0					21																	40596364		2202	4294	6496	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40596364G>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3352C>T	21.37:g.40596364G>A	ENSP00000330753:p.Pro1118Ser					BRWD1_ENST00000380800.3_Missense_Mutation_p.P1118S|BRWD1_ENST00000333229.2_Missense_Mutation_p.P1118S	p.P1118S	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			29	3430	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1118					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.3352C>T	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.995069|3.995069	0.74703|0.74703	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000424441|ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	.|T;T;T	.|0.50813	.|0.73;0.73;0.73	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.170328|0.170328	0.41097|0.41097	D|D	0.000944|0.000944	T|T	0.76248|0.76248	0.3961|0.3961	M|M	0.91717|0.91717	3.235|3.235	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.998;0.997	T|T	0.82647|0.82647	-0.0354|-0.0354	6|10	.|0.87932	.|D	.|0	-6.6714|-6.6714	18.5638|18.5638	0.91110|0.91110	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1118;1118;1118	.|Q9NSI6-3;Q9NSI6-2;Q9NSI6	.|.;.;BRWD1_HUMAN	L|S	103|1118;1118;1118;122	.|ENSP00000330753:P1118S;ENSP00000344333:P1118S;ENSP00000370178:P1118S	.|ENSP00000330753:P1118S	P|P	-|-	2|1	0|0	BRWD1|BRWD1	39518234|39518234	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.542000|0.542000	0.35054|0.35054	9.055000|9.055000	0.93873|0.93873	2.467000|2.467000	0.83353|0.83353	0.585000|0.585000	0.79938|0.79938	CCC|CCA		0.294	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		33	53	0	0	0	1	0	33	53				
CAMKV	79012	broad.mit.edu	37	3	49897143	49897143	+	Missense_Mutation	SNP	G	G	A	rs377281206		TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr3:49897143G>A	ENST00000477224.1	-	11	1592	c.1114C>T	c.(1114-1116)Cgt>Tgt	p.R372C	CAMKV_ENST00000488336.1_Intron|CAMKV_ENST00000466940.1_Intron|CAMKV_ENST00000296471.7_Missense_Mutation_p.R344C|CAMKV_ENST00000463537.1_Intron|CAMKV_ENST00000498324.1_5'Flank|CAMKV_ENST00000467248.1_Missense_Mutation_p.R297C			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	372	Ala-rich.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTTGCAGCACGAGCAGCATCA	0.657																																						ENST00000477224.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(1114-1116)Cgt>Tgt		CaM kinase-like vesicle-associated		G	CYS/ARG	0,4404		0,0,2202	62.0	61.0	61.0		1114	-0.1	0.1	3		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAMKV	NM_024046.3	180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	372/502	49897143	1,13003	2202	4300	6502	SO:0001583	missense	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49897143G>A	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.1114C>T	3.37:g.49897143G>A	ENSP00000419195:p.Arg372Cys					CAMKV_ENST00000488336.1_Intron|CAMKV_ENST00000296471.7_Missense_Mutation_p.R344C|CAMKV_ENST00000463537.1_Intron|CAMKV_ENST00000467248.1_Missense_Mutation_p.R297C|CAMKV_ENST00000466940.1_Intron	p.R372C			Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	11	1592	-			372			Ala-rich.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	c.1114C>T	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	G	5.663	0.306889	0.10733	0.0	1.16E-4	ENSG00000164076	ENST00000296471;ENST00000477224;ENST00000467248	T;T;T	0.70399	0.45;-0.29;-0.48	4.51	-0.102	0.13613	.	1.693870	0.03894	N	0.279250	T	0.49558	0.1564	N	0.08118	0	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.38067	-0.9678	10	0.54805	T	0.06	.	4.384	0.11307	0.3227:0.3342:0.3431:0.0	.	372;297;344;372	B2RDF9;B4DM24;Q8NCB2-2;Q8NCB2	.;.;.;CAMKV_HUMAN	C	344;372;297	ENSP00000296471:R344C;ENSP00000419195:R372C;ENSP00000420053:R297C	ENSP00000296471:R344C	R	-	1	0	CAMKV	49872147	0.008000	0.16893	0.051000	0.19133	0.681000	0.39784	0.048000	0.14078	-0.235000	0.09767	-0.302000	0.09304	CGT		0.657	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		39	83	0	0	0	1	0	39	83				
UGT3A1	133688	broad.mit.edu	37	5	35968133	35968133	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr5:35968133G>T	ENST00000274278.3	-	3	656	c.299C>A	c.(298-300)gCa>gAa	p.A100E	UGT3A1_ENST00000507113.1_Missense_Mutation_p.A66E|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A46E|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A100E|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	100						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCATCCAATGCTGTTTCTAT	0.328																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(298-300)gCa>gAa		UDP glycosyltransferase 3 family, polypeptide A1							99.0	94.0	95.0					5																	35968133		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35968133G>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.299C>A	5.37:g.35968133G>T	ENSP00000274278:p.Ala100Glu					UGT3A1_ENST00000503189.1_Missense_Mutation_p.A100E|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A46E|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A66E	p.A100E	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	656	-	all_lung(31;0.000197)		100					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.299C>A	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	G	6.173	0.400179	0.11696	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.61274	0.22;0.22;0.12;0.12	2.7	0.426	0.16479	.	31.386800	0.00664	N	0.000605	T	0.51398	0.1672	L	0.46157	1.445	0.09310	N	1	P;B;P;B	0.39940	0.695;0.27;0.696;0.24	P;B;B;B	0.45946	0.498;0.216;0.438;0.232	T	0.40701	-0.9549	10	0.02654	T	1	.	3.6144	0.08071	0.1752:0.4147:0.4101:0.0	.	66;100;46;100	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	E	100;100;66;46	ENSP00000274278:A100E;ENSP00000427079:A100E;ENSP00000426100:A66E;ENSP00000328033:A46E	ENSP00000274278:A100E	A	-	2	0	UGT3A1	36003890	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-1.168000	0.03123	0.241000	0.21283	0.455000	0.32223	GCA		0.328	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		10	21	1	0	2.17888e-05	1	2.26603e-05	10	21				
DEF8	54849	broad.mit.edu	37	16	90027430	90027430	+	Silent	SNP	G	G	C			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr16:90027430G>C	ENST00000268676.7	+	7	878	c.789G>C	c.(787-789)ctG>ctC	p.L263L	DEF8_ENST00000567874.1_Silent_p.L142L|DEF8_ENST00000563795.1_Silent_p.L202L|DEF8_ENST00000563594.1_Silent_p.L202L|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000570182.1_Silent_p.L192L|DEF8_ENST00000569453.1_Silent_p.L202L	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	263					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AATACGAACTGAACATCTGCC	0.577																																						ENST00000563594.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(604-606)ctG>ctC		differentially expressed in FDCP 8 homolog (mouse)							136.0	125.0	129.0					16																	90027430		2198	4300	6498	SO:0001819	synonymous_variant	54849				intracellular signal transduction		zinc ion binding	g.chr16:90027430G>C	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.789G>C	16.37:g.90027430G>C						DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000570182.1_Silent_p.L192L|DEF8_ENST00000569453.1_Silent_p.L202L|DEF8_ENST00000567874.1_Silent_p.L142L|DEF8_ENST00000563795.1_Silent_p.L202L|DEF8_ENST00000268676.7_Silent_p.L263L	p.L202L	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	7	1603	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	263					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Silent	SNP	ENST00000268676.7	37	c.606G>C	CCDS10989.1																																																																																				0.577	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		43	104	0	0	0	1	0	43	104				
MGAM	8972	broad.mit.edu	37	7	141758013	141758013	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr7:141758013G>A	ENST00000549489.2	+	31	3799	c.3704G>A	c.(3703-3705)cGg>cAg	p.R1235Q	MGAM_ENST00000475668.2_Missense_Mutation_p.R1235Q	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1235	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGATTGGCCGGCCTGTGATG	0.438																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3703-3705)cGg>cAg		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						257.0	248.0	251.0					7																	141758013		1899	4110	6009	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141758013G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3704G>A	7.37:g.141758013G>A	ENSP00000447378:p.Arg1235Gln					MGAM_ENST00000549489.2_Missense_Mutation_p.R1235Q	p.R1235Q			O43451	MGA_HUMAN			31	3758	+	Melanoma(164;0.0272)		1235			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3704G>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	g	15.08	2.727725	0.48833	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91894	-2.93	3.72	2.82	0.32997	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.91710	0.7379	M	0.88775	2.98	0.34644	D	0.720921	P	0.51933	0.949	B	0.40659	0.336	D	0.91493	0.5213	9	0.38643	T	0.18	.	10.4401	0.44460	0.1032:0.0:0.8968:0.0	.	1235	O43451	MGA_HUMAN	Q	1235;1235;1112	ENSP00000447378:R1235Q	ENSP00000316431:R1112Q	R	+	2	0	MGAM	141404482	1.000000	0.71417	0.809000	0.32408	0.350000	0.29205	6.483000	0.73617	0.521000	0.28445	0.173000	0.16961	CGG		0.438	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			4	262	0	0	0	1	0	4	262				
OR8K5	219453	broad.mit.edu	37	11	55927529	55927529	+	Nonsense_Mutation	SNP	G	G	A	rs147577134		TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr11:55927529G>A	ENST00000313447.1	-	1	264	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R89R(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATAGTATTTCGATCCACAACA	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		22003	0.0		0.001	False		,,,				2504	0.0					ENST00000313447.1																			1	Substitution - coding silent(1)	p.R89R(1)	lung(1)	large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(265-267)Cga>Tga		olfactory receptor, family 8, subfamily K, member 5		G	stop/ARG	0,4402		0,0,2201	99.0	98.0	99.0		265	1.5	0.3	11	dbSNP_134	99	1,8591	1.2+/-3.3	0,1,4295	yes	stop-gained	OR8K5	NM_001004058.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		89/308	55927529	1,12993	2201	4296	6497	SO:0001587	stop_gained	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927529G>A	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.265C>T	11.37:g.55927529G>A	ENSP00000323853:p.Arg89*						p.R89*	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	264	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	89					Q6IFB5	Nonsense_Mutation	SNP	ENST00000313447.1	37	c.265C>T	CCDS31521.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.03	1.520237	0.27211	0.0	1.16E-4	ENSG00000181752	ENST00000313447	.	.	.	3.88	1.55	0.23275	.	1.167630	0.06219	N	0.686504	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	5.9628	0.19308	0.0:0.2834:0.3342:0.3824	.	.	.	.	X	89	.	ENSP00000323853:R89X	R	-	1	2	OR8K5	55684105	0.000000	0.05858	0.330000	0.25442	0.479000	0.33129	-0.825000	0.04433	0.837000	0.34925	0.567000	0.79289	CGA		0.393	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		29	79	0	0	0	1	0	29	79				
QRICH1	54870	broad.mit.edu	37	3	49069649	49069649	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr3:49069649G>C	ENST00000395443.2	-	9	2577	c.2105C>G	c.(2104-2106)cCc>cGc	p.P702R	QRICH1_ENST00000357496.2_Missense_Mutation_p.P702R|RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_5'Flank|QRICH1_ENST00000479449.1_5'Flank|QRICH1_ENST00000424300.1_Missense_Mutation_p.P702R	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	702						nucleus (GO:0005634)		p.P702L(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGCTTGATGGGACATCTCAA	0.453																																						ENST00000395443.2																			1	Substitution - Missense(1)	p.P702L(1)	skin(1)	breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(2104-2106)cCc>cGc		glutamine-rich 1							240.0	200.0	213.0					3																	49069649		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49069649G>C		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.2105C>G	3.37:g.49069649G>C	ENSP00000378830:p.Pro702Arg					QRICH1_ENST00000424300.1_Missense_Mutation_p.P702R|QRICH1_ENST00000357496.2_Missense_Mutation_p.P702R	p.P702R	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	9	2577	-			702					Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.2105C>G	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916815	0.92249	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.27	5.27	0.74061	.	0.097128	0.64402	D	0.000001	D	0.83207	0.5204	M	0.83774	2.66	0.80722	D	1	D	0.62365	0.991	D	0.67382	0.951	D	0.85809	0.1378	9	0.87932	D	0	-3.5773	18.9477	0.92628	0.0:0.0:1.0:0.0	.	702	Q2TAL8	QRIC1_HUMAN	R	702	.	ENSP00000350094:P702R	P	-	2	0	QRICH1	49044653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.367000	0.97148	2.490000	0.84030	0.585000	0.79938	CCC		0.453	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		9	62	0	0	0	1	0	9	62				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	39	0	0	0	1	0	3	39				
DHTKD1	55526	broad.mit.edu	37	10	12149963	12149963	+	Silent	SNP	C	C	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr10:12149963C>T	ENST00000263035.4	+	12	2165	c.2103C>T	c.(2101-2103)taC>taT	p.Y701Y		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	701					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CACATGGCTACGATGGGGCTG	0.542																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2101-2103)taC>taT		dehydrogenase E1 and transketolase domain containing 1							135.0	106.0	116.0					10																	12149963		2203	4300	6503	SO:0001819	synonymous_variant	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12149963C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2103C>T	10.37:g.12149963C>T							p.Y701Y	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		12	2165	+		Renal(717;0.228)	701					Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	c.2103C>T	CCDS7087.1																																																																																				0.542	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		13	42	0	0	0	1	0	13	42				
DKK1	22943	broad.mit.edu	37	10	54074801	54074801	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr10:54074801G>A	ENST00000373970.3	+	2	501	c.362G>A	c.(361-363)tGc>tAc	p.C121Y	PRKG1-AS1_ENST00000420193.1_RNA|DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	121	DKK-type Cys-1.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						CGAAAACGCTGCATGCGTCAC	0.572											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373970.3																			0				kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						c.(361-363)tGc>tAc		dickkopf WNT signaling pathway inhibitor 1							49.0	45.0	46.0					10																	54074801		2203	4300	6503	SO:0001583	missense	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54074801G>A		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.362G>A	10.37:g.54074801G>A	ENSP00000363081:p.Cys121Tyr		OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	997	DKK1_ENST00000467359.1_3'UTR	p.C121Y	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN			2	501	+			121			DKK-type Cys-1.		B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.362G>A	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073844	0.94000	.	.	ENSG00000107984	ENST00000373970	T	0.75367	-0.93	5.63	5.63	0.86233	Dickkopf, N-terminal cysteine-rich (1);	0.000000	0.85682	D	0.000000	D	0.87947	0.6306	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89071	0.3469	10	0.87932	D	0	-3.4279	19.2694	0.94003	0.0:0.0:1.0:0.0	.	121	O94907	DKK1_HUMAN	Y	121	ENSP00000363081:C121Y	ENSP00000363081:C121Y	C	+	2	0	DKK1	53744807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.373000	0.97168	2.639000	0.89480	0.650000	0.86243	TGC		0.572	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			6	34	0	0	0	1	0	6	34				
SULT1C3	442038	broad.mit.edu	37	2	108869816	108869816	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr2:108869816T>C	ENST00000329106.2	+	3	317	c.317T>C	c.(316-318)cTt>cCt	p.L106P	SULT1C3_ENST00000376700.1_Missense_Mutation_p.L106P	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	106					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GAGTTCGTTCTTGAAATGTCC	0.363																																						ENST00000329106.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(316-318)cTt>cCt		sulfotransferase family, cytosolic, 1C, member 3							107.0	101.0	103.0					2																	108869816		2203	4300	6503	SO:0001583	missense	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108869816T>C	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.317T>C	2.37:g.108869816T>C	ENSP00000333310:p.Leu106Pro					SULT1C3_ENST00000376700.1_Missense_Mutation_p.L106P	p.L106P	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN			3	317	+			106					Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	c.317T>C	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.240148	0.22711	.	.	ENSG00000196228	ENST00000329106;ENST00000376700	D;D	0.81996	-1.56;-1.56	2.8	-5.11	0.02901	Sulfotransferase domain (1);	2.000900	0.03178	N	0.171731	T	0.75852	0.3906	N	0.12637	0.245	0.09310	N	1	B	0.33073	0.396	B	0.43623	0.425	T	0.68891	-0.5289	10	0.54805	T	0.06	.	11.6966	0.51546	0.8088:0.0:0.0:0.1912	.	106	Q6IMI6	ST1C3_HUMAN	P	106	ENSP00000333310:L106P;ENSP00000365890:L106P	ENSP00000333310:L106P	L	+	2	0	SULT1C3	108236248	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.358000	0.00499	-1.209000	0.02631	0.383000	0.25322	CTT		0.363	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		12	45	0	0	0	1	0	12	45				
KIAA1614	57710	broad.mit.edu	37	1	180905490	180905490	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr1:180905490A>C	ENST00000367588.4	+	5	2500	c.2445A>C	c.(2443-2445)aaA>aaC	p.K815N	KIAA1614_ENST00000367587.1_Missense_Mutation_p.K436N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	815										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CTTCGAGGAAAACCACCTCGC	0.617																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(2443-2445)aaA>aaC		KIAA1614							47.0	51.0	50.0					1																	180905490		1965	4147	6112	SO:0001583	missense	57710							g.chr1:180905490A>C	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2445A>C	1.37:g.180905490A>C	ENSP00000356560:p.Lys815Asn					KIAA1614_ENST00000367587.1_Missense_Mutation_p.K436N	p.K815N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			5	2500	+			815					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.2445A>C	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.412304	0.42817	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.61392	0.11;0.11	4.51	2.18	0.27775	.	0.319435	0.28533	N	0.015007	T	0.57829	0.2080	L	0.34521	1.04	0.31782	N	0.6307309999999999	D	0.61697	0.99	P	0.59487	0.858	T	0.65487	-0.6156	9	0.52906	T	0.07	-4.205	9.0759	0.36522	0.8288:0.0:0.1712:0.0	.	815	Q5VZ46	K1614_HUMAN	N	815;436	ENSP00000356560:K815N;ENSP00000356559:K436N	ENSP00000356559:K436N	K	+	3	2	KIAA1614	179172113	0.000000	0.05858	0.020000	0.16555	0.003000	0.03518	0.128000	0.15810	0.129000	0.18514	-1.447000	0.01057	AAA		0.617	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		14	28	0	0	0	1	0	14	28				
ADAMTSL1	92949	broad.mit.edu	37	9	18474243	18474243	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr9:18474243C>G	ENST00000380548.4	+	1	352	c.13C>G	c.(13-15)Cgt>Ggt	p.R5G	ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.R5G	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	5						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAATGCTGCCGTCGGGCAAC	0.507																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(13-15)Cgt>Ggt		ADAMTS-like 1							185.0	159.0	168.0					9																	18474243		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18474243C>G	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.13C>G	9.37:g.18474243C>G	ENSP00000369921:p.Arg5Gly					ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.R5G	p.R5G	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	1	352	+			5					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.13C>G	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.385968	0.25031	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000431052;ENST00000380570;ENST00000380566;ENST00000276935	T;T;T;T;T;T	0.66638	-0.01;-0.0;-0.15;-0.22;-0.06;-0.03	5.84	5.84	0.93424	.	.	.	.	.	T	0.50120	0.1597	N	0.08118	0	0.80722	D	1	B;B	0.15473	0.013;0.0	B;B	0.14023	0.01;0.002	T	0.49331	-0.8951	9	0.87932	D	0	.	16.3845	0.83500	0.0:0.8684:0.1316:0.0	.	5;5	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	G	5	ENSP00000369921:R5G;ENSP00000327887:R5G;ENSP00000401157:R5G;ENSP00000369944:R5G;ENSP00000369940:R5G;ENSP00000276935:R5G	ENSP00000276935:R5G	R	+	1	0	ADAMTSL1	18464243	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.448000	0.35112	2.751000	0.94390	0.655000	0.94253	CGT		0.507	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			39	52	0	0	0	1	0	39	52				
C10orf76	79591	broad.mit.edu	37	10	103789374	103789374	+	Intron	SNP	C	C	G	rs369680993		TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr10:103789374C>G	ENST00000370033.4	-	5	534				C10orf76_ENST00000311122.5_Missense_Mutation_p.M145I	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76							integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TCCACAGGCACATCTGCAGCT	0.443																																						ENST00000311122.5																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(433-435)atG>atC		chromosome 10 open reading frame 76							109.0	107.0	108.0					10																	103789374		2078	4215	6293	SO:0001627	intron_variant	79591					integral to membrane		g.chr10:103789374C>G	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.414+20G>C	10.37:g.103789374C>G						C10orf76_ENST00000370033.4_Intron	p.M145I			Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	5	554	-		Colorectal(252;0.123)	0					Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	c.435G>C	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	C	7.580	0.668498	0.14776	.	.	ENSG00000120029	ENST00000311122	T	0.16196	2.36	4.78	-2.83	0.05769	.	.	.	.	.	T	0.09247	0.0228	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34576	-0.9823	8	0.37606	T	0.19	.	5.3326	0.15940	0.0:0.3541:0.2543:0.3916	.	145	Q5T2E7	.	I	145	ENSP00000312408:M145I	ENSP00000312408:M145I	M	-	3	0	C10orf76	103779364	0.000000	0.05858	0.002000	0.10522	0.404000	0.30871	-0.219000	0.09228	-0.148000	0.11234	-0.263000	0.10527	ATG		0.443	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		18	39	0	0	0	1	0	18	39				
PRH2	5555	broad.mit.edu	37	12	11083297	11083297	+	Missense_Mutation	SNP	G	G	A	rs147911411	byFrequency	TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr12:11083297G>A	ENST00000396400.3	+	3	175	c.137G>A	c.(136-138)cGt>cAt	p.R46H	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Missense_Mutation_p.R46H	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	46	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						GATGAGGAGCGTCAGGGACCA	0.532																																						ENST00000396400.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						c.(136-138)cGt>cAt		proline-rich protein HaeIII subfamily 2		G	HIS/ARG,HIS/ARG	1,4405	4.2+/-10.8	0,1,2202	118.0	141.0	133.0		137,137	-2.5	0.0	12	dbSNP_134	133	13,8587	9.8+/-36.6	0,13,4287	no	missense,missense	PRH2	NM_001110213.1,NM_005042.4	29,29	0,14,6489	AA,AG,GG		0.1512,0.0227,0.1076	possibly-damaging,possibly-damaging	46/167,46/167	11083297	14,12992	2203	4300	6503	SO:0001583	missense	5555					extracellular space	protein binding	g.chr12:11083297G>A		CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"""parotid proline-rich protein"", ""acidic salivary proline-rich protein, HaeIII type, 2"""	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.137G>A	12.37:g.11083297G>A	ENSP00000379682:p.Arg46His					PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Missense_Mutation_p.R46H	p.R46H	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN			3	175	+			46			Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.		A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	ENST00000396400.3	37	c.137G>A	CCDS8636.1	.	.	.	.	.	.	.	.	.	.	G	5.753	0.323405	0.10900	2.27E-4	0.001512	ENSG00000134551	ENST00000381847;ENST00000396400	T;T	0.15487	2.42;2.42	1.24	-2.47	0.06442	.	9.050640	0.00919	N	0.002560	T	0.06826	0.0174	N	0.04203	-0.255	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.16217	-1.0410	10	0.26408	T	0.33	.	0.4517	0.00502	0.2419:0.3166:0.2472:0.1943	.	46	P02810	PRPC_HUMAN	H	46	ENSP00000371271:R46H;ENSP00000379682:R46H	ENSP00000371271:R46H	R	+	2	0	PRH2	10974564	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.086000	0.00611	-0.949000	0.03663	-1.961000	0.00478	CGT		0.532	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400231.1	NM_001110213		20	122	0	0	0	1	0	20	122				
HMCN1	83872	broad.mit.edu	37	1	185962357	185962357	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr1:185962357C>T	ENST00000271588.4	+	23	3650	c.3421C>T	c.(3421-3423)Cgc>Tgc	p.R1141C	HMCN1_ENST00000367492.2_Missense_Mutation_p.R1141C|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1141	Ig-like C2-type 8.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R1141S(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACTGAAACCCGCACTTCAGA	0.398																																						ENST00000271588.4																			1	Substitution - Missense(1)	p.R1141S(1)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(3421-3423)Cgc>Tgc		hemicentin 1							139.0	134.0	136.0					1																	185962357		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185962357C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3421C>T	1.37:g.185962357C>T	ENSP00000271588:p.Arg1141Cys					HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.R1141C	p.R1141C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			23	3650	+			1141			Ig-like C2-type 8.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.3421C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357552	0.82243	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68025	-0.3;-0.3	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.099080	0.64402	D	0.000003	T	0.77942	0.4206	L	0.52011	1.625	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.969;0.998	T	0.77814	-0.2448	10	0.62326	D	0.03	.	15.3849	0.74691	0.1393:0.8607:0.0:0.0	.	525;1141	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	C	1141	ENSP00000271588:R1141C;ENSP00000356462:R1141C	ENSP00000271588:R1141C	R	+	1	0	HMCN1	184228980	0.998000	0.40836	0.961000	0.40146	0.943000	0.58893	3.261000	0.51530	2.885000	0.99019	0.655000	0.94253	CGC		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		34	50	0	0	0	1	0	34	50				
PDZD9	255762	broad.mit.edu	37	16	21995951	21995951	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr16:21995951A>T	ENST00000424898.2	-	4	494	c.432T>A	c.(430-432)gaT>gaA	p.D144E	PDZD9_ENST00000286143.6_Missense_Mutation_p.D82E|PDZD9_ENST00000537222.2_Missense_Mutation_p.D84E			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	144										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TGAAAGATTCATCTTTTGCCA	0.338																																						ENST00000286143.6																			0				breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						c.(244-246)gaT>gaA		PDZ domain containing 9							49.0	51.0	50.0					16																	21995951		2198	4299	6497	SO:0001583	missense	255762							g.chr16:21995951A>T	BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 65"""	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.432T>A	16.37:g.21995951A>T	ENSP00000400514:p.Asp144Glu					PDZD9_ENST00000424898.2_Missense_Mutation_p.D144E|PDZD9_ENST00000537222.2_Missense_Mutation_p.D84E	p.D82E			Q8IXQ8	PDZD9_HUMAN			5	567	-			144			PDZ.		F5GWW8	Missense_Mutation	SNP	ENST00000424898.2	37	c.246T>A		.	.	.	.	.	.	.	.	.	.	A	6.184	0.402074	0.11696	.	.	ENSG00000155714	ENST00000424898;ENST00000537222;ENST00000286143;ENST00000521513	T	0.43294	0.95	4.73	-2.7	0.06004	.	0.775537	0.11884	N	0.520185	T	0.16727	0.0402	N	0.20401	0.57	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.27706	-1.0066	10	0.06757	T	0.87	-3.1613	1.0849	0.01650	0.3537:0.1639:0.3228:0.1596	.	82	Q8IXQ8-2	.	E	144;84;82;84	ENSP00000400514:D144E	ENSP00000286143:D82E	D	-	3	2	PDZD9	21903452	0.000000	0.05858	0.001000	0.08648	0.500000	0.33767	-1.522000	0.02237	-0.451000	0.07097	0.460000	0.39030	GAT		0.338	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381652.1	NM_173806		7	36	0	0	0	1	0	7	36				
SLC22A8	9376	broad.mit.edu	37	11	62767263	62767263	+	Silent	SNP	G	G	A	rs139413909	byFrequency	TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr11:62767263G>A	ENST00000336232.2	-	4	624	c.489C>T	c.(487-489)agC>agT	p.S163S	SLC22A8_ENST00000545207.1_Silent_p.S72S|SLC22A8_ENST00000430500.2_Silent_p.S163S|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000311438.8_Silent_p.S163S|SLC22A8_ENST00000535878.1_Silent_p.S40S	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	163					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CACCGGAGCCGCTGGCTGCCA	0.622													G|||	6	0.00119808	0.0	0.0	5008	,	,		18208	0.0		0.0	False		,,,				2504	0.0061					ENST00000336232.2																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(487-489)agC>agT		solute carrier family 22 (organic anion transporter), member 8		G	,,,	0,4402		0,0,2201	46.0	48.0	47.0		489,216,120,489	-10.9	0.0	11	dbSNP_134	47	6,8590	5.0+/-18.6	0,6,4292	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC22A8	NM_001184732.1,NM_001184733.1,NM_001184736.1,NM_004254.3	,,,	0,6,6493	AA,AG,GG		0.0698,0.0,0.0462	,,,	163/543,72/452,40/420,163/543	62767263	6,12992	2201	4298	6499	SO:0001819	synonymous_variant	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62767263G>A	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.489C>T	11.37:g.62767263G>A						SLC22A8_ENST00000311438.8_Silent_p.S163S|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000535878.1_Silent_p.S40S|SLC22A8_ENST00000430500.2_Silent_p.S163S|SLC22A8_ENST00000545207.1_Silent_p.S72S	p.S163S	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN			4	624	-			163					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Silent	SNP	ENST00000336232.2	37	c.489C>T	CCDS8042.1																																																																																				0.622	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		10	47	0	0	0	1	0	10	47				
MUSK	4593	broad.mit.edu	37	9	113431241	113431241	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr9:113431241C>A	ENST00000374448.4	+	1	191	c.57C>A	c.(55-57)agC>agA	p.S19R	MUSK_ENST00000416899.2_Missense_Mutation_p.S19R|MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000189978.5_Missense_Mutation_p.S19R	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	19					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTGCCTTCAGCGGAACTGAGA	0.443																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(55-57)agC>agA		muscle, skeletal, receptor tyrosine kinase							332.0	319.0	323.0					9																	113431241		1903	4124	6027	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113431241C>A	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.57C>A	9.37:g.113431241C>A	ENSP00000363571:p.Ser19Arg					MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000189978.5_Missense_Mutation_p.S19R|MUSK_ENST00000374448.4_Missense_Mutation_p.S19R	p.S19R			O15146	MUSK_HUMAN			1	183	+			19					Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.57C>A	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475404	0.63737	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.74106	-0.81	5.18	2.32	0.28847	.	0.058589	0.64402	D	0.000005	T	0.72542	0.3473	L	0.27053	0.805	0.80722	D	1	D;D	0.69078	0.997;0.992	P;P	0.60415	0.854;0.874	T	0.71567	-0.4554	10	0.72032	D	0.01	.	9.5892	0.39534	0.0:0.7676:0.0:0.2324	.	19;19	O15146;F5H6T2	MUSK_HUMAN;.	R	19	ENSP00000363571:S19R	ENSP00000189978:S19R	S	+	3	2	MUSK	112471062	0.964000	0.33143	1.000000	0.80357	0.815000	0.46073	0.504000	0.22626	0.206000	0.20587	0.557000	0.71058	AGC		0.443	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				46	147	1	0	3.4597e-24	1	3.91097e-24	46	147				
SYNE2	23224	broad.mit.edu	37	14	64676752	64676752	+	Silent	SNP	G	G	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr14:64676752G>A	ENST00000344113.4	+	103	18845	c.18633G>A	c.(18631-18633)acG>acA	p.T6211T	SYNE2_ENST00000554805.1_5'UTR|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.T2845T|SYNE2_ENST00000358025.3_Silent_p.T6211T|SYNE2_ENST00000357395.3_Silent_p.T2596T|SYNE2_ENST00000394768.2_Silent_p.T2596T|SYNE2_ENST00000555022.1_Silent_p.T89T|SYNE2_ENST00000554584.1_Silent_p.T6170T	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6211			T -> M (in EDMD5; dbSNP:rs36215895). {ECO:0000269|PubMed:17761684}.		centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCACAGACACGGCCAGCAGGC	0.632																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(7786-7788)acG>acA		spectrin repeat containing, nuclear envelope 2							45.0	45.0	45.0					14																	64676752		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64676752G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18633G>A	14.37:g.64676752G>A						SYNE2_ENST00000394768.2_Silent_p.T2596T|SYNE2_ENST00000358025.3_Silent_p.T6211T|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Silent_p.T6170T|SYNE2_ENST00000555002.1_Silent_p.T2845T|SYNE2_ENST00000554805.1_5'UTR|SYNE2_ENST00000555022.1_Silent_p.T89T|SYNE2_ENST00000344113.4_Silent_p.T6211T	p.T2596T			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	104	18932	+			6211					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.7788G>A	CCDS41963.1																																																																																				0.632	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		8	49	0	0	0	1	0	8	49				
KL	9365	broad.mit.edu	37	13	33635172	33635172	+	Silent	SNP	C	C	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr13:33635172C>A	ENST00000380099.3	+	4	1964	c.1956C>A	c.(1954-1956)gcC>gcA	p.A652A	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	652	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCCTCCTGGCCAGGCAGGGCG	0.622																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(1954-1956)gcC>gcA		klotho							49.0	48.0	48.0					13																	33635172		2203	4300	6503	SO:0001819	synonymous_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635172C>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1956C>A	13.37:g.33635172C>A						KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	p.A652A	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	1964	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	652			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.1956C>A	CCDS9347.1																																																																																				0.622	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			10	48	1	0	2.17888e-05	1	2.26603e-05	10	48				
TGM3	7053	broad.mit.edu	37	20	2291007	2291007	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr20:2291007G>A	ENST00000381458.5	+	3	428	c.365G>A	c.(364-366)gGc>gAc	p.G122D		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	122					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TCCCAGGGCGGCATCTCCTCT	0.552																																						ENST00000381458.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(364-366)gGc>gAc		transglutaminase 3	L-Glutamine(DB00130)						199.0	184.0	189.0					20																	2291007		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2291007G>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.365G>A	20.37:g.2291007G>A	ENSP00000370867:p.Gly122Asp						p.G122D	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN			3	428	+			122					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.365G>A	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	G	9.544	1.114161	0.20795	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	D	0.81579	-1.51	4.78	-2.05	0.07321	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	3.960730	0.00610	N	0.000416	T	0.69682	0.3138	L	0.38175	1.15	0.09310	N	1	B	0.28258	0.205	B	0.18263	0.021	T	0.53443	-0.8438	10	0.38643	T	0.18	.	5.7134	0.17946	0.3977:0.1301:0.4722:0.0	.	122	Q08188	TGM3_HUMAN	D	122	ENSP00000370867:G122D	ENSP00000370867:G122D	G	+	2	0	TGM3	2239007	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.040000	0.12104	-0.349000	0.08274	0.462000	0.41574	GGC		0.552	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		4	182	0	0	0	1	0	4	182				
SLIT3	6586	broad.mit.edu	37	5	168176626	168176626	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr5:168176626T>C	ENST00000519560.1	-	19	2407	c.1988A>G	c.(1987-1989)aAc>aGc	p.N663S	SLIT3_ENST00000332966.8_Missense_Mutation_p.N663S|SLIT3_ENST00000404867.3_Missense_Mutation_p.N663S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	663	LRRCT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGAAGGGGTTGGACAGGAG	0.587																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1987-1989)aAc>aGc		slit homolog 3 (Drosophila)							107.0	119.0	115.0					5																	168176626		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168176626T>C	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1988A>G	5.37:g.168176626T>C	ENSP00000430333:p.Asn663Ser					SLIT3_ENST00000404867.3_Missense_Mutation_p.N663S|SLIT3_ENST00000332966.8_Missense_Mutation_p.N663S	p.N663S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		19	2407	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	663			LRRCT 3.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.1988A>G	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.558835	0.86231	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.72505	-0.66;-0.66;-0.66	5.42	5.42	0.78866	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89100	0.6619	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92565	0.6061	10	0.87932	D	0	.	15.4652	0.75394	0.0:0.0:0.0:1.0	.	663	O75094	SLIT3_HUMAN	S	663	ENSP00000430333:N663S;ENSP00000332164:N663S;ENSP00000384890:N663S	ENSP00000332164:N663S	N	-	2	0	SLIT3	168109204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.043000	0.60533	0.533000	0.62120	AAC		0.587	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		28	62	0	0	0	1	0	28	62				
POLR2J4	84820	broad.mit.edu	37	7	44058720	44058720	+	RNA	SNP	C	C	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr7:44058720C>A	ENST00000427076.1	-	0	28				RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000326391.6_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		CACGCTCCCGCCTCCGTTGCG	0.677											OREG0018029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000427076.1																			0																																																			0							g.chr7:44058720C>A			7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44058720C>A			OREG0018029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921			NR_003655.2						0	28	-									RNA	SNP	ENST00000427076.1	37																																																																																						0.677	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473169.1	NR_003655		14	21	1	0	0.00316338	1	0.00322541	14	21				
TMEM132E	124842	broad.mit.edu	37	17	32961959	32961959	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr17:32961959C>G	ENST00000321639.5	+	8	1888	c.1560C>G	c.(1558-1560)gaC>gaG	p.D520E		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	520						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AGGGCACTGACCAGGTGGTCA	0.632																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1558-1560)gaC>gaG		transmembrane protein 132E							111.0	86.0	95.0					17																	32961959		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32961959C>G	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1560C>G	17.37:g.32961959C>G	ENSP00000316532:p.Asp520Glu						p.D520E	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	8	1888	+			520					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.1560C>G	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606309	0.46527	.	.	ENSG00000181291	ENST00000321639	T	0.17370	2.28	5.22	3.17	0.36434	.	0.343758	0.33772	N	0.004566	T	0.10937	0.0267	L	0.29908	0.895	0.47994	D	0.99956	B	0.06786	0.001	B	0.12156	0.007	T	0.12066	-1.0562	10	0.27785	T	0.31	-33.5046	6.9866	0.24731	0.1285:0.6748:0.1246:0.0722	.	520	Q6IEE7	T132E_HUMAN	E	520	ENSP00000316532:D520E	ENSP00000316532:D520E	D	+	3	2	TMEM132E	29986072	0.837000	0.29446	1.000000	0.80357	0.972000	0.66771	0.271000	0.18626	1.415000	0.47037	0.498000	0.49722	GAC		0.632	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		15	47	0	0	0	1	0	15	47				
ANKRD50	57182	broad.mit.edu	37	4	125631656	125631656	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr4:125631656G>T	ENST00000504087.1	-	2	1048	c.11C>A	c.(10-12)cCt>cAt	p.P4H	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	4										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTCTTCCCAAGGATTAGTCAT	0.403																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(10-12)cCt>cAt		ankyrin repeat domain 50																																				SO:0001583	missense	57182							g.chr4:125631656G>T	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.11C>A	4.37:g.125631656G>T	ENSP00000425658:p.Pro4His					ANKRD50_ENST00000515641.1_Intron	p.P4H	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			2	1048	-			4					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.11C>A	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568094	0.65651	.	.	ENSG00000151458	ENST00000504087	T	0.18174	2.23	4.99	4.99	0.66335	.	0.000000	0.53938	D	0.000045	T	0.13030	0.0316	N	0.08118	0	0.80722	D	1	D	0.52996	0.957	P	0.45377	0.478	T	0.08785	-1.0705	10	0.87932	D	0	.	16.9949	0.86365	0.0:0.0:1.0:0.0	.	4	Q9ULJ7	ANR50_HUMAN	H	4	ENSP00000425658:P4H	ENSP00000425658:P4H	P	-	2	0	ANKRD50	125851106	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.821000	0.48065	2.756000	0.94617	0.561000	0.74099	CCT		0.403	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		4	168	1	0	1	1	1	4	168				
MPO	4353	broad.mit.edu	37	17	56348167	56348167	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr17:56348167C>A	ENST00000225275.3	-	12	2264	c.2088G>T	c.(2086-2088)caG>caT	p.Q696H	MPO_ENST00000340482.3_Missense_Mutation_p.Q728H	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	696					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GCAATGAGATCTGGGCCAGGG	0.537																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(2182-2184)caG>caT		myeloperoxidase	Cefdinir(DB00535)						233.0	180.0	198.0					17																	56348167		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56348167C>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2088G>T	17.37:g.56348167C>A	ENSP00000225275:p.Gln696His					MPO_ENST00000225275.3_Missense_Mutation_p.Q696H	p.Q728H			P05164	PERM_HUMAN			11	2360	-			696					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.2184G>T	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373270	0.24857	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.73258	-0.73;-0.73	5.76	-0.713	0.11223	.	1.687060	0.02660	N	0.107367	T	0.59676	0.2211	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43750	-0.9372	10	0.62326	D	0.03	-4.3899	0.8487	0.01167	0.2487:0.3163:0.232:0.203	.	696	P05164	PERM_HUMAN	H	728;696	ENSP00000344419:Q728H;ENSP00000225275:Q696H	ENSP00000225275:Q696H	Q	-	3	2	MPO	53703166	0.000000	0.05858	0.212000	0.23672	0.768000	0.43524	-1.142000	0.03203	0.047000	0.15862	-0.176000	0.13171	CAG		0.537	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			14	44	1	0	3.41278e-10	1	3.69718e-10	14	44				
GCK	2645	broad.mit.edu	37	7	44184841	44184841	+	Missense_Mutation	SNP	G	G	A	rs193922274		TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr7:44184841G>A	ENST00000403799.3	-	10	1761	c.1292C>T	c.(1291-1293)aCg>aTg	p.T431M	GCK_ENST00000395796.3_Missense_Mutation_p.T430M|GCK_ENST00000437084.1_Missense_Mutation_p.T414M|GCK_ENST00000345378.2_Missense_Mutation_p.T432M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	431	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCAGCTGGGCGTCAGCCTGCG	0.652																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.(1291-1293)aCg>aTg		glucokinase (hexokinase 4)							26.0	29.0	28.0					7																	44184841		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44184841G>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.1292C>T	7.37:g.44184841G>A	ENSP00000384247:p.Thr431Met					GCK_ENST00000437084.1_Missense_Mutation_p.T414M|GCK_ENST00000395796.3_Missense_Mutation_p.T430M|GCK_ENST00000345378.2_Missense_Mutation_p.T432M	p.T431M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			10	1761	-			431					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.1292C>T	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700477	0.88924	.	.	ENSG00000106633	ENST00000336642;ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99	5.83	5.83	0.93111	Hexokinase, C-terminal (1);	0.255590	0.45126	D	0.000400	D	0.97266	0.9106	L	0.43152	1.355	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;0.968;0.999;0.999;1.0	D;P;D;D;D	0.81914	0.981;0.598;0.974;0.956;0.995	D	0.97464	1.0036	10	0.56958	D	0.05	-42.8524	19.7259	0.96164	0.0:0.0:1.0:0.0	.	431;432;430;414;431	P35557;P35557-2;P35557-3;C9JQD1;A7LFL1	HXK4_HUMAN;.;.;.;.	M	115;431;430;432;414	ENSP00000338009:T115M;ENSP00000384247:T431M;ENSP00000379142:T430M;ENSP00000223366:T432M;ENSP00000402840:T414M	ENSP00000338009:T115M	T	-	2	0	GCK	44151366	0.982000	0.34865	1.000000	0.80357	0.962000	0.63368	3.482000	0.53186	2.756000	0.94617	0.561000	0.74099	ACG		0.652	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			5	22	0	0	0	1	0	5	22				
MBNL3	55796	broad.mit.edu	37	X	131516262	131516262	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chrX:131516262C>A	ENST00000370853.3	-	7	1075	c.997G>T	c.(997-999)Gca>Tca	p.A333S	MBNL3_ENST00000394311.2_Missense_Mutation_p.A237S|MBNL3_ENST00000370857.3_Missense_Mutation_p.A321S|MBNL3_ENST00000370844.1_Missense_Mutation_p.A237S|MBNL3_ENST00000538204.1_Missense_Mutation_p.A271S|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000370839.3_Missense_Mutation_p.A298S|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000370849.3_Missense_Mutation_p.A283S	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	333					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					GTTGTTGCTGCAGACACAGTG	0.468																																						ENST00000538204.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16						c.(811-813)Gca>Tca		muscleblind-like splicing regulator 3							212.0	179.0	190.0					X																	131516262		2203	4300	6503	SO:0001583	missense	55796				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding	g.chrX:131516262C>A	AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"""Zinc fingers, CCCH-type domain containing"""	20564	protein-coding gene	gene with protein product		300413	"""muscleblind-like 3 (Drosophila)"""			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.997G>T	X.37:g.131516262C>A	ENSP00000359890:p.Ala333Ser					MBNL3_ENST00000370853.3_Missense_Mutation_p.A333S|MBNL3_ENST00000394311.2_Missense_Mutation_p.A237S|MBNL3_ENST00000370849.3_Missense_Mutation_p.A283S|RP5-842K24.2_ENST00000421483.1_RNA|MBNL3_ENST00000370844.1_Missense_Mutation_p.A237S|RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000370857.3_Missense_Mutation_p.A321S|MBNL3_ENST00000370839.3_Missense_Mutation_p.A298S	p.A271S	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN			6	876	-	Acute lymphoblastic leukemia(192;0.000127)		333					Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP	ENST00000370853.3	37	c.811G>T	CCDS14633.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812839	0.70912	.	.	ENSG00000076770	ENST00000394311;ENST00000538204;ENST00000370857;ENST00000370853;ENST00000370849;ENST00000370839;ENST00000370844;ENST00000442191;ENST00000436215	T;T;T	0.54071	0.77;0.63;0.59	5.97	5.1	0.69264	.	0.080608	0.52532	D	0.000079	T	0.66992	0.2846	L	0.58669	1.825	0.34857	D	0.742197	B;B;D;B;B	0.69078	0.047;0.027;0.997;0.047;0.211	B;B;D;B;B	0.77557	0.056;0.056;0.99;0.056;0.081	T	0.72290	-0.4337	10	0.23891	T	0.37	-4.8556	14.7487	0.69508	0.0:0.9286:0.0:0.0714	.	271;333;298;283;237	Q9NUK0-4;Q9NUK0;Q9NUK0-2;Q9NUK0-3;Q8IUR4	.;MBNL3_HUMAN;.;.;.	S	237;271;321;333;283;298;237;114;237	ENSP00000359894:A321S;ENSP00000359890:A333S;ENSP00000359876:A298S	ENSP00000359876:A298S	A	-	1	0	MBNL3	131343943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.824000	0.48088	1.253000	0.44018	0.600000	0.82982	GCA		0.468	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388		44	30	1	0	4.64027e-19	1	5.13391e-19	44	30				
GALNT14	79623	broad.mit.edu	37	2	31215825	31215825	+	Missense_Mutation	SNP	G	G	A	rs148056182		TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr2:31215825G>A	ENST00000349752.5	-	2	817	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	GALNT14_ENST00000420311.2_Missense_Mutation_p.R25W|GALNT14_ENST00000406653.1_Missense_Mutation_p.R40W|GALNT14_ENST00000324589.5_Intron|AC009305.1_ENST00000449780.1_RNA|GALNT14_ENST00000356174.3_Missense_Mutation_p.R60W	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	60					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TTCAGATACCGCCGCTCATCA	0.572																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(178-180)Cgg>Tgg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	92.0	79.0	84.0		178	1.8	1.0	2	dbSNP_134	84	0,8600		0,0,4300	no	missense	GALNT14	NM_024572.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	60/553	31215825	1,13005	2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31215825G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.178C>T	2.37:g.31215825G>A	ENSP00000288988:p.Arg60Trp					GALNT14_ENST00000420311.2_Missense_Mutation_p.R25W|GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000406653.1_Missense_Mutation_p.R40W|GALNT14_ENST00000356174.3_Missense_Mutation_p.R60W	p.R60W	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			2	817	-	Acute lymphoblastic leukemia(172;0.155)		60					B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.178C>T	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	G	19.50	3.840133	0.71488	2.27E-4	0.0	ENSG00000158089	ENST00000349752;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T	0.63580	0.42;0.42;0.2;0.43;-0.05	4.8	1.79	0.24919	.	.	.	.	.	T	0.58032	0.2094	L	0.38175	1.15	0.35848	D	0.826562	D;D;D;D;D	0.64830	0.994;0.99;0.987;0.958;0.978	P;P;P;B;B	0.51229	0.663;0.462;0.528;0.339;0.328	T	0.64330	-0.6433	9	0.72032	D	0.01	.	9.4013	0.38435	0.0:0.1139:0.2722:0.6139	.	25;25;60;60;40	F5H263;B7Z5C5;Q96FL9-2;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	W	60;40;60;25;60	ENSP00000288988:R60W;ENSP00000385435:R40W;ENSP00000348497:R60W;ENSP00000415514:R25W;ENSP00000406399:R60W	ENSP00000288988:R60W	R	-	1	2	GALNT14	31069329	0.931000	0.31567	0.965000	0.40720	0.988000	0.76386	0.990000	0.29642	0.161000	0.19458	0.555000	0.69702	CGG		0.572	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		14	21	0	0	0	1	0	14	21				
UGDH	7358	broad.mit.edu	37	4	39511512	39511512	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr4:39511512G>C	ENST00000316423.6	-	6	1021	c.679C>G	c.(679-681)Ctt>Gtt	p.L227V	UGDH_ENST00000506179.1_Missense_Mutation_p.L227V|UGDH_ENST00000501493.2_Missense_Mutation_p.L160V|UGDH_ENST00000515398.1_5'Flank|UGDH_ENST00000507089.1_Missense_Mutation_p.L130V	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	227	Substrate binding.				cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						CTCTGGGCAAGAAAAGCATTT	0.383																																						ENST00000316423.6																			0				breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						c.(679-681)Ctt>Gtt		UDP-glucose 6-dehydrogenase	NADH(DB00157)						71.0	68.0	69.0					4																	39511512		2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39511512G>C	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.679C>G	4.37:g.39511512G>C	ENSP00000319501:p.Leu227Val					UGDH_ENST00000507089.1_Missense_Mutation_p.L130V|UGDH_ENST00000506179.1_Missense_Mutation_p.L227V|UGDH_ENST00000501493.2_Missense_Mutation_p.L160V	p.L227V	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN			6	1021	-			227			Substrate binding.		B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.679C>G	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487291	0.44249	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000507089	D;D;D;D	0.86956	-2.13;-1.6;-2.13;-2.19	5.65	4.8	0.61643	UDP-glucose/GDP-mannose dehydrogenase, dimerisation (1);Cytochrome c1, transmembrane anchor, C-terminal (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.109676	0.64402	D	0.000005	D	0.95746	0.8616	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.997	D	0.97234	0.9886	10	0.87932	D	0	-0.5056	15.3619	0.74483	0.0:0.0:0.8594:0.1406	.	160;227	B3KUU2;O60701	.;UGDH_HUMAN	V	227;160;227;130	ENSP00000319501:L227V;ENSP00000422909:L160V;ENSP00000421757:L227V;ENSP00000426560:L130V	ENSP00000319501:L227V	L	-	1	0	UGDH	39187907	1.000000	0.71417	0.991000	0.47740	0.027000	0.11550	9.058000	0.93896	1.510000	0.48803	-0.188000	0.12872	CTT		0.383	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		3	37	0	0	0	1	0	3	37				
TP53BP2	7159	broad.mit.edu	37	1	223980187	223980187	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr1:223980187G>A	ENST00000343537.7	-	15	3191	c.2900C>T	c.(2899-2901)aCg>aTg	p.T967M	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Missense_Mutation_p.T200M|TP53BP2_ENST00000391878.2_Missense_Mutation_p.T838M	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	961	Mediates interaction with APC2.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GTGAAGAGCCGTGATGCCTTC	0.448																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(2512-2514)aCg>aTg		tumor protein p53 binding protein, 2							94.0	83.0	87.0					1																	223980187		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223980187G>A	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2900C>T	1.37:g.223980187G>A	ENSP00000341957:p.Thr967Met					TP53BP2_ENST00000391879.2_Missense_Mutation_p.T200M|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.T967M	p.T838M	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	16	3281	-			961			Pro-rich.		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.2513C>T	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392048	0.83011	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.71222	-0.55;-0.55;-0.55	5.31	4.4	0.53042	Src homology-3 domain (1);Ankyrin repeat-containing domain (3);	0.146434	0.64402	D	0.000009	D	0.86293	0.5898	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89226	0.3574	10	0.87932	D	0	.	14.2188	0.65812	0.0722:0.0:0.9278:0.0	.	967;961	B4DG66;Q13625	.;ASPP2_HUMAN	M	838;967;200	ENSP00000375750:T838M;ENSP00000341957:T967M;ENSP00000375751:T200M	ENSP00000341957:T967M	T	-	2	0	TP53BP2	222046810	1.000000	0.71417	0.939000	0.37840	0.964000	0.63967	9.779000	0.99018	1.382000	0.46385	0.467000	0.42956	ACG		0.448	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		9	22	0	0	0	1	0	9	22				
PIKFYVE	200576	broad.mit.edu	37	2	209190015	209190015	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr2:209190015T>G	ENST00000264380.4	+	20	2638	c.2480T>G	c.(2479-2481)tTt>tGt	p.F827C		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	827					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACACTGATGTTTTTTGAAGGT	0.388																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(2479-2481)tTt>tGt		phosphoinositide kinase, FYVE finger containing							52.0	48.0	50.0					2																	209190015		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190015T>G	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2480T>G	2.37:g.209190015T>G	ENSP00000264380:p.Phe827Cys						p.F827C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			20	2638	+			827					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.2480T>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758239	0.69763	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.80738	-1.41;-1.41	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.89466	0.6723	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.90550	0.4508	10	0.87932	D	0	-19.809	16.3818	0.83467	0.0:0.0:0.0:1.0	.	827;771	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	C	827;403;771	ENSP00000264380:F827C;ENSP00000405736:F771C	ENSP00000264380:F827C	F	+	2	0	PIKFYVE	208898260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	2.330000	0.79161	0.528000	0.53228	TTT		0.388	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		12	27	0	0	0	1	0	12	27				
HS6ST1	9394	broad.mit.edu	37	2	129075918	129075918	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr2:129075918C>T	ENST00000259241.6	-	1	233	c.220G>A	c.(220-222)Gag>Aag	p.E74K	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	74					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CGCTCCAGCTCGCGGACCGGG	0.692																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(220-222)Gag>Aag		heparan sulfate 6-O-sulfotransferase 1							19.0	28.0	25.0					2																	129075918		1953	4157	6110	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129075918C>T	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.220G>A	2.37:g.129075918C>T	ENSP00000259241:p.Glu74Lys					HS6ST1_ENST00000494089.1_5'UTR	p.E74K	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	1	233	-	Colorectal(110;0.1)		74					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.220G>A	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	c	20.5	3.997775	0.74818	.	.	ENSG00000136720	ENST00000259241	T	0.41065	1.01	3.16	3.16	0.36331	.	0.061140	0.64402	U	0.000004	T	0.20210	0.0486	N	0.14661	0.345	0.52501	D	0.999954	P	0.34934	0.476	B	0.19946	0.027	T	0.07966	-1.0745	9	.	.	.	.	11.7632	0.51916	0.0:1.0:0.0:0.0	.	74	O60243	H6ST1_HUMAN	K	74	ENSP00000259241:E74K	.	E	-	1	0	HS6ST1	128792388	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.901000	0.63259	1.600000	0.50102	0.313000	0.20887	GAG		0.692	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		5	22	0	0	0	1	0	5	22				
AGFG1	3267	broad.mit.edu	37	2	228388506	228388506	+	Silent	SNP	C	C	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr2:228388506C>T	ENST00000310078.8	+	4	665	c.405C>T	c.(403-405)gtC>gtT	p.V135V	AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000373671.3_Silent_p.V135V|AGFG1_ENST00000409171.1_Silent_p.V135V|AGFG1_ENST00000409315.1_Silent_p.V135V|AGFG1_ENST00000409979.2_Silent_p.V135V	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	135	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						AAGCCAAAGTCGTGGCATCAG	0.388																																						ENST00000310078.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						c.(403-405)gtC>gtT		ArfGAP with FG repeats 1							108.0	101.0	103.0					2																	228388506		2203	4300	6503	SO:0001819	synonymous_variant	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228388506C>T		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.405C>T	2.37:g.228388506C>T						AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409979.2_Silent_p.V135V|AGFG1_ENST00000409171.1_Silent_p.V135V|AGFG1_ENST00000409315.1_Silent_p.V135V|AGFG1_ENST00000373671.3_Silent_p.V135V	p.V135V	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN			4	665	+			135			Arf-GAP.		B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Silent	SNP	ENST00000310078.8	37	c.405C>T	CCDS2467.1																																																																																				0.388	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		6	79	0	0	0	1	0	6	79				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	81	0	0	0	1	0	4	81				
C17orf85	55421	broad.mit.edu	37	17	3716470	3716470	+	Silent	SNP	C	C	T	rs374025988		TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr17:3716470C>T	ENST00000389005.4	-	13	1758	c.1731G>A	c.(1729-1731)ctG>ctA	p.L577L	C17orf85_ENST00000158149.3_Silent_p.L297L	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	577							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ATGCCCTTTGCAGCTCAGAGT	0.502																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(889-891)ctG>ctA		chromosome 17 open reading frame 85							145.0	144.0	144.0					17																	3716470		2203	4300	6503	SO:0001819	synonymous_variant	55421						nucleotide binding	g.chr17:3716470C>T		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1731G>A	17.37:g.3716470C>T						C17orf85_ENST00000389005.4_Silent_p.L577L	p.L297L			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	14	1786	-			577					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Silent	SNP	ENST00000389005.4	37	c.891G>A	CCDS45578.1																																																																																				0.502	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		4	126	0	0	0	1	0	4	126				
DNM1P47	100216544	broad.mit.edu	37	15	102292829	102292829	+	RNA	SNP	C	C	G	rs543677577		TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr15:102292829C>G	ENST00000561463.1	+	0	875									DNM1 pseudogene 47									p.H139Q(1)									CGAGAAGACACTCGTGGAGGC	0.597																																						ENST00000561463.1																			1	Substitution - Missense(1)	p.H139Q(1)	kidney(1)																																																0							g.chr15:102292829C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292829C>G														0	875	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	28	0	0	0	1	0	3	28				
TCEAL6	158931	broad.mit.edu	37	X	101396002	101396002	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chrX:101396002G>A	ENST00000372774.3	-	3	551	c.302C>T	c.(301-303)cCg>cTg	p.P101L	TCEAL6_ENST00000372773.1_Missense_Mutation_p.P101L	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.P101L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						ATCTCCAGCCGGGCGCTTTTC	0.612																																						ENST00000372774.3																			1	Substitution - Missense(1)	p.P101L(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						c.(301-303)cCg>cTg		transcription elongation factor A (SII)-like 6							81.0	86.0	84.0					X																	101396002		2202	4298	6500	SO:0001583	missense	158931				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101396002G>A	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.302C>T	X.37:g.101396002G>A	ENSP00000361860:p.Pro101Leu					TCEAL6_ENST00000372773.1_Missense_Mutation_p.P101L	p.P101L	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN			3	551	-			101					Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	c.302C>T	CCDS43978.1	.	.	.	.	.	.	.	.	.	.	G	8.396	0.840742	0.16891	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.12465	2.68;2.68	2.75	0.892	0.19230	.	0.000000	0.36268	N	0.002695	T	0.11665	0.0284	M	0.74258	2.255	0.18873	N	0.999988	B	0.33448	0.412	B	0.23018	0.043	T	0.23511	-1.0186	10	0.72032	D	0.01	.	2.7702	0.05332	0.1646:0.0:0.5578:0.2776	.	101	Q6IPX3-2	.	L	101	ENSP00000361860:P101L;ENSP00000361859:P101L	ENSP00000361859:P101L	P	-	2	0	TCEAL6	101282658	0.455000	0.25736	0.037000	0.18230	0.645000	0.38454	0.413000	0.21148	0.107000	0.17824	0.468000	0.43344	CCG		0.612	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		16	79	0	0	0	1	0	16	79				
NTRK1	4914	broad.mit.edu	37	1	156849931	156849936	+	In_Frame_Del	DEL	CCAGCT	CCAGCT	-	rs557254719		TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr1:156849931_156849936delCCAGCT	ENST00000524377.1	+	16	2228_2233	c.2187_2192delCCAGCT	c.(2185-2193)taccagctc>tac	p.QL730del	NTRK1_ENST00000368196.3_In_Frame_Del_p.QL724del|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000358660.3_In_Frame_Del_p.QL727del|NTRK1_ENST00000392302.2_In_Frame_Del_p.QL694del	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	730	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	AGCCCTGGTACCAGCTCTCCAACACG	0.621			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(2167-2175)tac>ta		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)																																			SO:0001651	inframe_deletion	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156849931_156849936delCCAGCT	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2187_2192delCCAGCT	1.37:g.156849931_156849936delCCAGCT	ENSP00000431418:p.Gln730_Leu731del	TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_In_Frame_Del_p.YQL693del|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000358660.3_In_Frame_Del_p.YQL726del|NTRK1_ENST00000524377.1_In_Frame_Del_p.YQL729del	p.YQL723del	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			15	2289_2294	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		729			Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	In_Frame_Del	DEL	ENST00000524377.1	37	c.2169_2174delCCAGCT	CCDS1161.1																																																																																				0.621	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		14	82						14	82	---	---	---	---
FAM86DP	692099	broad.mit.edu	37	3	75471435	75471435	+	RNA	DEL	C	C	-			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr3:75471435delC	ENST00000459803.1	-	0	1706					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TGGTGAATGACCCGGGAAGCT	0.552																																						ENST00000459803.1																			0																																																			0							g.chr3:75471435delC	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75471435delC								NR_024241.1						0	1706	-									RNA	DEL	ENST00000459803.1	37																																																																																						0.552	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		2	4						2	4	---	---	---	---
MBD1	4152	broad.mit.edu	37	18	47806261	47806262	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr18:47806261_47806262delAT	ENST00000591416.1	-	2	532_533	c.101_102delAT	c.(100-102)tatfs	p.Y35fs	MBD1_ENST00000398493.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.Y61fs|MBD1_ENST00000398495.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.Y35fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	35	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						ACCTCTGGTAATAGGTGTCTGA	0.554																																						ENST00000591416.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(100-102)tfs		methyl-CpG binding domain protein 1																																				SO:0001589	frameshift_variant	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47806261_47806262delAT	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.101_102delAT	18.37:g.47806261_47806262delAT	ENSP00000467017:p.Tyr35fs					MBD1_ENST00000591535.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398495.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.Y61fs	p.Y35fs			Q9UIS9	MBD1_HUMAN			2	532_533	-			35			MBD.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Frame_Shift_Del	DEL	ENST00000591416.1	37	c.101_102delAT	CCDS11943.1																																																																																				0.554	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		26	32						26	32	---	---	---	---
