#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
INO80B	83444	broad.mit.edu	37	2	74682565	74682565	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:74682565C>T	ENST00000233331.7	+	2	185	c.91C>T	c.(91-93)Cat>Tat	p.H31Y	INO80B_ENST00000409917.1_Missense_Mutation_p.H31Y|INO80B_ENST00000469849.1_Intron|WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000393972.3_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	31					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GGCGGGTGCCCATGGCCATGG	0.567																																						ENST00000233331.7																			0				endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						c.(91-93)Cat>Tat		INO80 complex subunit B							50.0	61.0	57.0					2																	74682565		2202	4300	6502	SO:0001583	missense	83444				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	g.chr2:74682565C>T	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.91C>T	2.37:g.74682565C>T	ENSP00000233331:p.His31Tyr					INO80B_ENST00000469849.1_Intron|INO80B_ENST00000409917.1_Missense_Mutation_p.H31Y	p.H31Y	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN			2	185	+			31						Missense_Mutation	SNP	ENST00000233331.7	37	c.91C>T	CCDS1942.2	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001482	0.54254	.	.	ENSG00000115274	ENST00000233331;ENST00000431187;ENST00000409917;ENST00000409493	T;T;T;T	0.46819	0.86;0.88;0.88;0.86	5.46	5.46	0.80206	.	0.207648	0.40908	D	0.000981	T	0.27205	0.0667	N	0.08118	0	0.30720	N	0.748373	P;B;B;B	0.36974	0.576;0.026;0.026;0.044	B;B;B;B	0.34722	0.188;0.029;0.029;0.013	T	0.34279	-0.9835	10	0.87932	D	0	-16.0456	10.2681	0.43466	0.0:0.9103:0.0:0.0897	.	49;31;31;31	B4DJ31;B4DJ22;Q9C086;B8ZZ93	.;.;IN80B_HUMAN;.	Y	31;31;31;36	ENSP00000233331:H31Y;ENSP00000389887:H31Y;ENSP00000387267:H31Y;ENSP00000386937:H36Y	ENSP00000233331:H31Y	H	+	1	0	INO80B	74536073	1.000000	0.71417	0.992000	0.48379	0.882000	0.50991	4.124000	0.57924	2.556000	0.86216	0.563000	0.77884	CAT		0.567	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		16	42	0	0	0	1	0	16	42				
MGA	23269	broad.mit.edu	37	15	42058595	42058595	+	Missense_Mutation	SNP	A	A	C			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr15:42058595A>C	ENST00000570161.1	+	23	8315	c.8315A>C	c.(8314-8316)gAt>gCt	p.D2772A	MGA_ENST00000566586.1_Missense_Mutation_p.D2563A|MGA_ENST00000389936.4_Missense_Mutation_p.D2733A|MGA_ENST00000219905.7_Missense_Mutation_p.D2772A|MGA_ENST00000545763.1_Missense_Mutation_p.D2563A			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					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)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGTCAAAGGATTCTTCATTT	0.378																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(8314-8316)gAt>gCt		MGA, MAX dimerization protein							55.0	51.0	52.0					15																	42058595		1862	4082	5944	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42058595A>C	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8315A>C	15.37:g.42058595A>C	ENSP00000457035:p.Asp2772Ala					MGA_ENST00000389936.4_Missense_Mutation_p.D2733A|MGA_ENST00000570161.1_Missense_Mutation_p.D2772A|MGA_ENST00000566586.1_Missense_Mutation_p.D2563A|MGA_ENST00000545763.1_Missense_Mutation_p.D2563A	p.D2772A	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	24	8496	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2733					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.8315A>C	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.673629	0.47781	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83591	-1.74;-1.73;-1.74	5.37	5.37	0.77165	.	0.679815	0.13093	N	0.414377	T	0.70937	0.3281	N	0.08118	0	0.22940	N	0.998532	B;B	0.20368	0.013;0.044	B;B	0.19391	0.025;0.024	T	0.64740	-0.6336	10	0.87932	D	0	.	14.1107	0.65120	1.0:0.0:0.0:0.0	.	2563;2772	F5H7K2;E7ENI0	.;.	A	2772;2733;2563	ENSP00000219905:D2772A;ENSP00000374586:D2733A;ENSP00000442467:D2563A	ENSP00000219905:D2772A	D	+	2	0	MGA	39845887	0.998000	0.40836	0.945000	0.38365	0.929000	0.56500	4.188000	0.58351	2.251000	0.74343	0.528000	0.53228	GAT		0.378	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		3	12	0	0	0	1	0	3	12				
RIPK4	54101	broad.mit.edu	37	21	43161344	43161344	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr21:43161344C>T	ENST00000352483.2	-	9	2217	c.2153G>A	c.(2152-2154)gGc>gAc	p.G718D	RIPK4_ENST00000332512.3_Missense_Mutation_p.G670D|RIPK4_ENST00000544709.1_Missense_Mutation_p.G607D|RIPK4_ENST00000542057.1_Missense_Mutation_p.G607D|AP001615.9_ENST00000423276.1_RNA			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	718					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGCGGTGTAGCCGTCTGAGGT	0.682																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2152-2154)gGc>gAc		receptor-interacting serine-threonine kinase 4							51.0	54.0	53.0					21																	43161344		2203	4299	6502	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161344C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2153G>A	21.37:g.43161344C>T	ENSP00000330161:p.Gly718Asp					RIPK4_ENST00000544709.1_Missense_Mutation_p.G607D|RIPK4_ENST00000332512.3_Missense_Mutation_p.G670D|RIPK4_ENST00000542057.1_Missense_Mutation_p.G607D|AP001615.9_ENST00000423276.1_RNA	p.G718D			Q96T11	Q96T11_HUMAN			9	2217	-			670					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.2153G>A		.	.	.	.	.	.	.	.	.	.	C	16.60	3.168967	0.57584	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.52	4.52	0.55395	.	0.000000	0.64402	D	0.000007	D	0.87317	0.6147	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87994	0.2751	10	0.38643	T	0.18	-40.9436	16.2192	0.82247	0.0:1.0:0.0:0.0	.	670	P57078-2	.	D	670;718;607;607	ENSP00000332454:G670D;ENSP00000330161:G718D;ENSP00000441754:G607D;ENSP00000442901:G607D	ENSP00000332454:G670D	G	-	2	0	RIPK4	42034413	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	7.484000	0.81180	2.049000	0.60858	0.561000	0.74099	GGC		0.682	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		20	45	0	0	0	1	0	20	45				
INPP4B	8821	broad.mit.edu	37	4	143326450	143326450	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr4:143326450C>T	ENST00000513000.1	-	7	597	c.164G>A	c.(163-165)cGt>cAt	p.R55H	INPP4B_ENST00000506217.1_Missense_Mutation_p.R55H|INPP4B_ENST00000308502.4_Missense_Mutation_p.R55H|INPP4B_ENST00000509777.1_Missense_Mutation_p.R55H|INPP4B_ENST00000508116.1_Missense_Mutation_p.R55H|INPP4B_ENST00000262992.4_Missense_Mutation_p.R55H	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	55	C2.				cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTTACGATCACGGACAGGAGC	0.517																																						ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(163-165)cGt>cAt		inositol polyphosphate-4-phosphatase, type II, 105kDa							111.0	97.0	102.0					4																	143326450		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143326450C>T	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.164G>A	4.37:g.143326450C>T	ENSP00000425487:p.Arg55His					INPP4B_ENST00000509777.1_Missense_Mutation_p.R55H|INPP4B_ENST00000506217.1_Missense_Mutation_p.R55H|INPP4B_ENST00000308502.4_Missense_Mutation_p.R55H|INPP4B_ENST00000508116.1_Missense_Mutation_p.R55H|INPP4B_ENST00000262992.4_Missense_Mutation_p.R55H	p.R55H	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			7	597	-	all_hematologic(180;0.158)		55			C2.		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.164G>A	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866928	0.51588	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000510812;ENST00000506217;ENST00000506788	T;T;T;T;T;T	0.30448	1.95;1.95;1.95;1.95;1.95;1.53	6.16	4.42	0.53409	C2 calcium/lipid-binding domain, CaLB (1);	0.281105	0.37761	N	0.001950	T	0.28665	0.0710	L	0.40543	1.245	0.34872	D	0.743652	P	0.50819	0.939	P	0.44772	0.46	T	0.43360	-0.9396	10	0.44086	T	0.13	.	12.0544	0.53527	0.1206:0.8164:0.0:0.0631	.	55	O15327	INP4B_HUMAN	H	55	ENSP00000425487:R55H;ENSP00000262992:R55H;ENSP00000308441:R55H;ENSP00000423954:R55H;ENSP00000422793:R55H;ENSP00000427250:R55H	ENSP00000262992:R55H	R	-	2	0	INPP4B	143545900	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	4.417000	0.59822	1.606000	0.50161	0.650000	0.86243	CGT		0.517	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		12	17	0	0	0	1	0	12	17				
MROH7	374977	broad.mit.edu	37	1	55118674	55118674	+	Silent	SNP	G	G	A			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr1:55118674G>A	ENST00000421030.2	+	3	360	c.75G>A	c.(73-75)ggG>ggA	p.G25G	MROH7_ENST00000395690.2_Silent_p.G25G|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000339553.5_Silent_p.G25G|MROH7_ENST00000472987.1_3'UTR|MROH7-TTC4_ENST00000414150.2_Silent_p.G25G|MROH7_ENST00000454855.2_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	25						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CCTCCTGTGGGGCCCCGGGAT	0.592																																						ENST00000414150.2																			0											c.(73-75)ggG>ggA		maestro heat-like repeat family member 7							56.0	57.0	56.0					1																	55118674		1875	4089	5964	SO:0001819	synonymous_variant	374977							g.chr1:55118674G>A	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.75G>A	1.37:g.55118674G>A						MROH7_ENST00000339553.5_Silent_p.G25G|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000421030.2_Silent_p.G25G|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Silent_p.G25G	p.G25G							3	353	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.75G>A	CCDS41342.2																																																																																				0.592	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		22	15	0	0	0	1	0	22	15				
MYO15A	51168	broad.mit.edu	37	17	18025715	18025715	+	Missense_Mutation	SNP	C	C	T	rs554373246		TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr17:18025715C>T	ENST00000205890.5	+	2	3939	c.3601C>T	c.(3601-3603)Cgg>Tgg	p.R1201W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1201					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCAAGCTGGCGGAACAAGGT	0.632																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(3601-3603)Cgg>Tgg		myosin XVA							31.0	36.0	34.0					17																	18025715		1978	4142	6120	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18025715C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3601C>T	17.37:g.18025715C>T	ENSP00000205890:p.Arg1201Trp						p.R1201W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	3939	+	all_neural(463;0.228)		1201			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.3601C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	13.40	2.224544	0.39300	.	.	ENSG00000091536	ENST00000205890	D	0.87809	-2.3	5.22	0.215	0.15253	.	.	.	.	.	T	0.57373	0.2049	N	0.00707	-1.245	0.53688	D	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.49184	-0.8966	9	0.37606	T	0.19	.	1.127	0.01737	0.3424:0.3385:0.1717:0.1474	.	1201	Q9UKN7	MYO15_HUMAN	W	1201	ENSP00000205890:R1201W	ENSP00000205890:R1201W	R	+	1	2	MYO15A	17966440	0.007000	0.16637	0.858000	0.33744	0.743000	0.42351	-0.262000	0.08682	0.411000	0.25702	0.561000	0.74099	CGG		0.632	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		11	22	0	0	0	1	0	11	22				
MAP3K5	4217	broad.mit.edu	37	6	136882674	136882674	+	Silent	SNP	G	G	A			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr6:136882674G>A	ENST00000359015.4	-	28	4344	c.3984C>T	c.(3982-3984)agC>agT	p.S1328S	MAP3K5_ENST00000355845.4_Silent_p.S575S	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1328					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCTTTACCCGGCTTATAGTGT	0.433																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(3982-3984)agC>agT		mitogen-activated protein kinase kinase kinase 5							82.0	80.0	80.0					6																	136882674		2203	4300	6503	SO:0001819	synonymous_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136882674G>A	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3984C>T	6.37:g.136882674G>A						MAP3K5_ENST00000355845.4_Silent_p.S575S	p.S1328S	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	28	4344	-	Colorectal(23;0.24)		1328					A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	c.3984C>T	CCDS5179.1																																																																																				0.433	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			3	48	0	0	0	1	0	3	48				
VEZT	55591	broad.mit.edu	37	12	95694120	95694120	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr12:95694120G>A	ENST00000436874.1	+	12	2116	c.2011G>A	c.(2011-2013)Ggt>Agt	p.G671S	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.G623S	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	671					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CTCTCTAGAAGGTAAAAATAA	0.353																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(2011-2013)Ggt>Agt		vezatin, adherens junctions transmembrane protein							40.0	38.0	38.0					12																	95694120		1848	4094	5942	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95694120G>A	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.2011G>A	12.37:g.95694120G>A	ENSP00000410083:p.Gly671Ser					VEZT_ENST00000261219.6_Missense_Mutation_p.G623S|VEZT_ENST00000356859.4_3'UTR	p.G671S	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN			12	2116	+			671					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.2011G>A	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	G	2.685	-0.274442	0.05679	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.14516	2.5;2.5;2.5	6.02	1.45	0.22620	.	0.702302	0.14885	N	0.292758	T	0.12390	0.0301	L	0.56769	1.78	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23154	-1.0196	10	0.40728	T	0.16	-15.6591	4.8738	0.13646	0.2941:0.0:0.4566:0.2493	.	671	Q9HBM0	VEZA_HUMAN	S	671;623;627;671	ENSP00000410083:G671S;ENSP00000261219:G623S;ENSP00000380894:G627S	ENSP00000261219:G623S	G	+	1	0	VEZT	94218251	0.002000	0.14202	0.001000	0.08648	0.075000	0.17131	1.189000	0.32114	0.353000	0.24079	0.650000	0.86243	GGT		0.353	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		6	8	0	0	0	1	0	6	8				
C14orf105	55195	broad.mit.edu	37	14	57960220	57960220	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr14:57960220A>G	ENST00000216445.3	-	1	350	c.214T>C	c.(214-216)Tat>Cat	p.Y72H	C14orf105_ENST00000526336.1_Missense_Mutation_p.Y72H|C14orf105_ENST00000534126.1_Missense_Mutation_p.Y72H|C14orf105_ENST00000422976.2_Missense_Mutation_p.Y72H	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	72										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CCTGTAGAATATCTTCCATAC	0.408																																						ENST00000216445.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(214-216)Tat>Cat		chromosome 14 open reading frame 105							108.0	106.0	107.0					14																	57960220		2203	4300	6503	SO:0001583	missense	55195							g.chr14:57960220A>G	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.214T>C	14.37:g.57960220A>G	ENSP00000216445:p.Tyr72His					C14orf105_ENST00000534126.1_Missense_Mutation_p.Y72H|C14orf105_ENST00000526336.1_Missense_Mutation_p.Y72H|C14orf105_ENST00000422976.2_Missense_Mutation_p.Y72H	p.Y72H	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN			1	350	-			72					Q53G04	Missense_Mutation	SNP	ENST00000216445.3	37	c.214T>C	CCDS9730.1	.	.	.	.	.	.	.	.	.	.	A	7.941	0.742684	0.15642	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126;ENST00000526336	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	4.94	2.11	0.27256	.	0.664574	0.13903	N	0.354813	T	0.45357	0.1338	M	0.64997	1.995	0.09310	N	1	B;B;B	0.23650	0.089;0.02;0.02	B;B;B	0.27262	0.078;0.035;0.035	T	0.39461	-0.9613	10	0.34782	T	0.22	1.2112	4.0615	0.09841	0.5837:0.1734:0.2428:0.0	.	72;72;72	F5GWJ3;E9PSE9;Q9NVL8	.;.;CN105_HUMAN	H	72	ENSP00000216445:Y72H;ENSP00000392368:Y72H;ENSP00000434003:Y72H;ENSP00000436517:Y72H	ENSP00000216445:Y72H	Y	-	1	0	C14orf105	57029973	0.152000	0.22762	0.285000	0.24819	0.130000	0.20726	0.071000	0.14594	0.183000	0.20059	0.455000	0.32223	TAT		0.408	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168		26	32	0	0	0	1	0	26	32				
DLG5	9231	broad.mit.edu	37	10	79581312	79581312	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr10:79581312T>C	ENST00000372391.2	-	15	2935	c.2930A>G	c.(2929-2931)aAc>aGc	p.N977S	DLG5_ENST00000459739.1_5'Flank|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	977					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TTTGAAAGTGTTAGGGTCAAA	0.577																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2929-2931)aAc>aGc		discs, large homolog 5 (Drosophila)							43.0	47.0	45.0					10																	79581312		2107	4150	6257	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79581312T>C	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2930A>G	10.37:g.79581312T>C	ENSP00000361467:p.Asn977Ser					DLG5_ENST00000372388.2_Intron	p.N977S	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	2935	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		977					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.2930A>G	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	T	17.25	3.341115	0.60963	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	T	0.04360	3.64	5.81	5.81	0.92471	.	0.000000	0.42420	D	0.000702	T	0.06234	0.0161	L	0.40543	1.245	0.80722	D	1	P;P	0.42692	0.787;0.682	B;B	0.39840	0.311;0.164	T	0.50923	-0.8770	10	0.23891	T	0.37	.	16.1463	0.81575	0.0:0.0:0.0:1.0	.	867;977	Q8TDM6-4;Q8TDM6	.;DLG5_HUMAN	S	977;526	ENSP00000361467:N977S	ENSP00000361467:N977S	N	-	2	0	DLG5	79251318	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	7.684000	0.84104	2.216000	0.71823	0.496000	0.49642	AAC		0.577	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			11	57	0	0	0	1	0	11	57				
MSRB3	253827	broad.mit.edu	37	12	65847524	65847524	+	Silent	SNP	C	C	T	rs140600679		TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr12:65847524C>T	ENST00000355192.3	+	5	456	c.330C>T	c.(328-330)caC>caT	p.H110H	MSRB3_ENST00000535664.1_Silent_p.H103H|MSRB3_ENST00000540804.1_Silent_p.H110H|MSRB3_ENST00000308259.5_Silent_p.H103H	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	110					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		CTTCATTCCACGATGTGATCA	0.448																																						ENST00000308259.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13						c.(307-309)caC>caT		methionine sulfoxide reductase B3		C	,,,	0,4406		0,0,2203	175.0	155.0	161.0		309,309,309,330	-7.6	0.9	12	dbSNP_134	161	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MSRB3	NM_001031679.2,NM_001193460.1,NM_001193461.1,NM_198080.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	103/186,103/186,103/186,110/193	65847524	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	253827				protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	g.chr12:65847524C>T	BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.330C>T	12.37:g.65847524C>T						MSRB3_ENST00000535664.1_Silent_p.H103H|MSRB3_ENST00000540804.1_Silent_p.H110H|MSRB3_ENST00000355192.3_Silent_p.H110H	p.H103H	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)	6	583	+			110					B4DR19|B7ZAQ0|Q6UXS2	Silent	SNP	ENST00000355192.3	37	c.309C>T	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	C	0.644	-0.812279	0.02798	0.0	1.16E-4	ENSG00000174099	ENST00000541189;ENST00000446731	.	.	.	5.45	-7.57	0.01318	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.3997	18.3015	0.90165	0.0:0.1058:0.0:0.8942	.	.	.	.	X	119;62	.	.	R	+	1	2	MSRB3	64133791	0.730000	0.28100	0.865000	0.33974	0.081000	0.17604	-0.295000	0.08298	-1.404000	0.02050	-0.229000	0.12294	CGA		0.448	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080		20	24	0	0	0	1	0	20	24				
HERC2P4	100289574	broad.mit.edu	37	16	32163807	32163807	+	IGR	SNP	G	G	A			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr16:32163807G>A								RP11-1166P10.6 (67701 upstream) : HERC2P4 (17497 downstream)																							GTGGGTGATGGAGCGGAGCTG	0.527																																						ENST00000564145.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr16:32163807G>A																													16.37:g.32163807G>A														0	27	-									RNA	SNP		37																																																																																					0	0.527									9	19	0	0	0	1	0	9	19				
TET2	54790	broad.mit.edu	37	4	106157155	106157155	+	Nonsense_Mutation	SNP	A	A	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr4:106157155A>T	ENST00000540549.1	+	3	2916	c.2056A>T	c.(2056-2058)Aga>Tga	p.R686*	TET2_ENST00000545826.1_Nonsense_Mutation_p.R686*|TET2_ENST00000513237.1_Nonsense_Mutation_p.R707*|TET2_ENST00000413648.2_Nonsense_Mutation_p.R686*|TET2_ENST00000380013.4_Nonsense_Mutation_p.R686*|TET2_ENST00000394764.1_Nonsense_Mutation_p.R686*|TET2_ENST00000305737.2_Nonsense_Mutation_p.R686*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	686	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.F683fs*17(1)|p.R686fs*7(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTTTCAACAAAGAGCAGATTC	0.423			"""Mis N, F"""		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.F683fs*17(1)|p.R686fs*7(1)	haematopoietic_and_lymphoid_tissue(2)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(2119-2121)Aga>Tga		tet methylcytosine dioxygenase 2							100.0	100.0	100.0					4																	106157155		2203	4300	6503	SO:0001587	stop_gained	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106157155A>T	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2056A>T	4.37:g.106157155A>T	ENSP00000442788:p.Arg686*					TET2_ENST00000380013.4_Nonsense_Mutation_p.R686*|TET2_ENST00000305737.2_Nonsense_Mutation_p.R686*|TET2_ENST00000394764.1_Nonsense_Mutation_p.R686*|TET2_ENST00000413648.2_Nonsense_Mutation_p.R686*|TET2_ENST00000545826.1_Nonsense_Mutation_p.R686*|TET2_ENST00000540549.1_Nonsense_Mutation_p.R686*	p.R707*			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2916	+		Myeloproliferative disorder(5;0.0393)	686			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	ENST00000540549.1	37	c.2119A>T	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	A	38	7.103096	0.98066	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	.	.	.	5.6	3.21	0.36854	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7653	0.18224	0.6363:0.2122:0.1514:0.0	.	.	.	.	X	686;686;686;707;686;686;686	.	ENSP00000265149:R686X	R	+	1	2	TET2	106376604	0.124000	0.22315	0.001000	0.08648	0.494000	0.33585	2.009000	0.40903	0.434000	0.26340	0.533000	0.62120	AGA		0.423	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		28	45	0	0	0	1	0	28	45				
GFPT1	2673	broad.mit.edu	37	2	69554140	69554140	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:69554140T>C	ENST00000357308.4	-	19	2139	c.1961A>G	c.(1960-1962)aAg>aGg	p.K654R	GFPT1_ENST00000361060.5_Missense_Mutation_p.K636R	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	654	Isomerase.|SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GTGGGGCACCTTGATCGTTCT	0.473																																						ENST00000357308.4																			0				endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						c.(1960-1962)aAg>aGg		glutamine--fructose-6-phosphate transaminase 1							171.0	137.0	149.0					2																	69554140		2203	4300	6503	SO:0001583	missense	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69554140T>C		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1961A>G	2.37:g.69554140T>C	ENSP00000349860:p.Lys654Arg					GFPT1_ENST00000361060.4_Missense_Mutation_p.K636R	p.K654R	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN			19	2139	-			654			SIS 2.		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.1961A>G	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.059205	0.55325	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.62105	0.05;0.05	5.31	5.31	0.75309	.	0.091723	0.85682	D	0.000000	T	0.38852	0.1056	N	0.02960	-0.455	0.80722	D	1	B	0.16166	0.016	B	0.17979	0.02	T	0.28235	-1.0050	10	0.31617	T	0.26	-14.8422	14.5996	0.68432	0.0:0.0:0.0:1.0	.	636	Q06210-2	.	R	654;636	ENSP00000349860:K654R;ENSP00000354347:K636R	ENSP00000349860:K654R	K	-	2	0	GFPT1	69407644	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	6.010000	0.70753	2.221000	0.72209	0.460000	0.39030	AAG		0.473	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				21	57	0	0	0	1	0	21	57				
EDAR	10913	broad.mit.edu	37	2	109526915	109526915	+	Splice_Site	SNP	C	C	G			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:109526915C>G	ENST00000258443.2	-	9	1234		c.e9+1		EDAR_ENST00000376651.1_Splice_Site|EDAR_ENST00000409271.1_Splice_Site	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor						apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTTCCACATACCTCTTGGTGG	0.577																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	GRCh37	CS084677	EDAR	S		c.e9+1		ectodysplasin A receptor							76.0	69.0	71.0					2																	109526915		2203	4300	6503	SO:0001630	splice_region_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109526915C>G	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.803+1G>C	2.37:g.109526915C>G						EDAR_ENST00000258443.2_Splice_Site|EDAR_ENST00000376651.1_Splice_Site				Q9UNE0	EDAR_HUMAN			9	1343	-								B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Splice_Site	SNP	ENST00000258443.2	37		CCDS2081.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.223138	0.79464	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4717	0.90777	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EDAR	108893347	1.000000	0.71417	0.995000	0.50966	0.840000	0.47671	7.031000	0.76491	2.383000	0.81215	0.561000	0.74099	.		0.577	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1		Intron	10	7	0	0	0	1	0	10	7				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	30	0	0	0	1	0	18	30				
OR4C13	283092	broad.mit.edu	37	11	49974112	49974112	+	Silent	SNP	C	C	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr11:49974112C>T	ENST00000555099.1	+	1	170	c.138C>T	c.(136-138)acC>acT	p.T46T		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TTGTGGTCACCATCACTGCCA	0.438																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(136-138)acC>acT		olfactory receptor, family 4, subfamily C, member 13							252.0	230.0	237.0					11																	49974112		2201	4296	6497	SO:0001819	synonymous_variant	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974112C>T	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.138C>T	11.37:g.49974112C>T							p.T46T	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	170	+			46					A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	c.138C>T	CCDS31495.1																																																																																				0.438	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		49	85	0	0	0	1	0	49	85				
ZNF652	22834	broad.mit.edu	37	17	47394244	47394244	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr17:47394244C>T	ENST00000362063.2	-	2	1162	c.844G>A	c.(844-846)Gtc>Atc	p.V282I	ZNF652_ENST00000430262.2_Missense_Mutation_p.V282I	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CTTTCCAGGACAAACTTCTTG	0.453																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(844-846)Gtc>Atc		zinc finger protein 652							168.0	150.0	156.0					17																	47394244		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394244C>T	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.844G>A	17.37:g.47394244C>T	ENSP00000354686:p.Val282Ile					ZNF652_ENST00000430262.2_Missense_Mutation_p.V282I	p.V282I	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	1162	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		282					A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.844G>A	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383347	0.82792	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.28069	1.63;1.63	5.74	5.74	0.90152	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	N	0.17764	0.52	0.80722	D	1	D	0.63046	0.992	D	0.79108	0.992	T	0.17107	-1.0380	10	0.28530	T	0.3	-12.0949	19.5308	0.95228	0.0:1.0:0.0:0.0	.	282	Q9Y2D9	ZN652_HUMAN	I	282	ENSP00000354686:V282I;ENSP00000416305:V282I	ENSP00000354686:V282I	V	-	1	0	ZNF652	44749243	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.084000	0.57650	2.715000	0.92844	0.655000	0.94253	GTC		0.453	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		24	50	0	0	0	1	0	24	50				
THUMPD2	80745	broad.mit.edu	37	2	39997066	39997066	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:39997066C>T	ENST00000505747.1	-	3	483	c.456G>A	c.(454-456)atG>atA	p.M152I	THUMPD2_ENST00000260619.6_Missense_Mutation_p.M122I|THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000454352.2_Missense_Mutation_p.M122I	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	152							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				CTATCTTTTGCATTTGTTCTA	0.318																																						ENST00000505747.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17						c.(454-456)atG>atA		THUMP domain containing 2							79.0	70.0	73.0					2																	39997066		2203	4299	6502	SO:0001583	missense	80745						methyltransferase activity	g.chr2:39997066C>T	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.456G>A	2.37:g.39997066C>T	ENSP00000423933:p.Met152Ile					THUMPD2_ENST00000454352.2_Missense_Mutation_p.M122I|THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000260619.6_Missense_Mutation_p.M122I	p.M152I	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN			3	483	-		all_hematologic(82;0.248)	152					A8K7I7|Q53TT8|Q53TV0	Missense_Mutation	SNP	ENST00000505747.1	37	c.456G>A	CCDS1805.2	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873507	0.33069	.	.	ENSG00000138050	ENST00000505747;ENST00000260619;ENST00000454352	.	.	.	5.46	-1.63	0.08345	.	1.127920	0.06418	N	0.721745	T	0.24699	0.0599	N	0.19112	0.55	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.0	B;B;B	0.12156	0.007;0.0;0.002	T	0.22591	-1.0212	8	.	.	.	.	6.3121	0.21171	0.0:0.4543:0.1282:0.4175	.	122;59;152	E7EUG5;B4DP37;Q9BTF0	.;.;THUM2_HUMAN	I	152;122;122	.	.	M	-	3	0	THUMPD2	39850570	0.000000	0.05858	0.000000	0.03702	0.977000	0.68977	-1.377000	0.02558	-0.227000	0.09884	0.650000	0.86243	ATG		0.318	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264		10	22	0	0	0	1	0	10	22				
SPDYE1	285955	broad.mit.edu	37	7	44046924	44046924	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr7:44046924C>A	ENST00000258704.3	+	5	827	c.690C>A	c.(688-690)caC>caA	p.H230Q	POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA|AC004951.6_ENST00000447643.1_lincRNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	230										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						ACATCTTCCACTTCCTGTATG	0.557																																						ENST00000258704.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						c.(688-690)caC>caA		speedy/RINGO cell cycle regulator family member E1							133.0	134.0	133.0					7																	44046924		2203	4298	6501	SO:0001583	missense	285955							g.chr7:44046924C>A	AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"""Speedy homologs"""	16408	protein-coding gene	gene with protein product	"""Speedy E"""		"""Williams Beuren syndrome chromosome region 19"", ""speedy homolog E1 (Xenopus laevis)"""	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.690C>A	7.37:g.44046924C>A	ENSP00000258704:p.His230Gln					AC004951.6_ENST00000447643.1_RNA|POLR2J4_ENST00000427076.1_RNA	p.H230Q	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN			5	827	+			230					Q9NTH5	Missense_Mutation	SNP	ENST00000258704.3	37	c.690C>A	CCDS5475.1	.	.	.	.	.	.	.	.	.	.	.	7.640	0.680709	0.14907	.	.	ENSG00000136206	ENST00000258704	.	.	.	.	.	.	.	1.399150	0.04988	N	0.466847	T	0.16685	0.0401	N	0.02539	-0.55	0.09310	N	1	B	0.29766	0.256	B	0.34652	0.187	T	0.25676	-1.0125	7	0.30078	T	0.28	.	.	.	.	.	230	Q8NFV5	SPDE1_HUMAN	Q	230	.	ENSP00000258704:H230Q	H	+	3	2	SPDYE1	44013449	0.074000	0.21230	0.384000	0.26145	0.386000	0.30323	0.855000	0.27805	0.088000	0.17205	0.089000	0.15464	CAC		0.557	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250974.1	NM_175064		57	84	1	0	1.45723e-30	1	1.58581e-30	57	84				
OSR2	116039	broad.mit.edu	37	8	99961351	99961351	+	Silent	SNP	G	G	A			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr8:99961351G>A	ENST00000297565.4	+	2	667	c.171G>A	c.(169-171)ggG>ggA	p.G57G	OSR2_ENST00000523368.1_Silent_p.G57G|OSR2_ENST00000457907.2_Silent_p.G178G|OSR2_ENST00000435298.2_Silent_p.G57G|OSR2_ENST00000522510.1_Silent_p.G57G	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	57					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GGACGCTGGGGTATCCCAATG	0.657																																						ENST00000297565.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(169-171)ggG>ggA		odd-skipped related transciption factor 2							54.0	60.0	58.0					8																	99961351		2069	4196	6265	SO:0001819	synonymous_variant	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961351G>A	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.171G>A	8.37:g.99961351G>A						OSR2_ENST00000457907.2_Silent_p.G178G|OSR2_ENST00000522510.1_Silent_p.G57G|OSR2_ENST00000523368.1_Silent_p.G57G|OSR2_ENST00000435298.2_Silent_p.G57G	p.G57G	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	667	+	Breast(36;4.14e-07)		57					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Silent	SNP	ENST00000297565.4	37	c.171G>A	CCDS47901.1																																																																																				0.657	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		18	29	0	0	0	1	0	18	29				
VIT	5212	broad.mit.edu	37	2	37035867	37035867	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:37035867C>T	ENST00000389975.3	+	14	1899	c.1597C>T	c.(1597-1599)Cgc>Tgc	p.R533C	VIT_ENST00000379242.3_Missense_Mutation_p.R548C|VIT_ENST00000379241.3_Missense_Mutation_p.R511C|VIT_ENST00000401530.1_Missense_Mutation_p.R512C|VIT_ENST00000404084.1_Missense_Mutation_p.R485C|VIT_ENST00000497382.1_Missense_Mutation_p.R202C	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	533	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.R548S(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CACGGACACGCGCATCGGGGC	0.587																																						ENST00000379242.3																			1	Substitution - Missense(1)	p.R548S(1)	lung(1)	autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1642-1644)Cgc>Tgc		vitrin							81.0	78.0	79.0					2																	37035867		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37035867C>T	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1597C>T	2.37:g.37035867C>T	ENSP00000374625:p.Arg533Cys					VIT_ENST00000401530.1_Missense_Mutation_p.R512C|VIT_ENST00000497382.1_Missense_Mutation_p.R202C|VIT_ENST00000404084.1_Missense_Mutation_p.R485C|VIT_ENST00000389975.3_Missense_Mutation_p.R533C|VIT_ENST00000379241.3_Missense_Mutation_p.R511C	p.R548C	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			15	1944	+		all_hematologic(82;0.248)	533			VWFA 2.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1642C>T	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.897948	0.52227	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.27	4.39	0.52855	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.95017	0.8387	H	0.96916	3.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.94779	0.7952	10	0.87932	D	0	-15.256	8.8491	0.35188	0.1481:0.7767:0.0:0.0752	.	512;511;533;548	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	C	548;533;202;485;511;512	ENSP00000368544:R548C;ENSP00000374625:R533C;ENSP00000417874:R202C;ENSP00000384154:R485C;ENSP00000368543:R511C;ENSP00000385658:R512C	ENSP00000368543:R511C	R	+	1	0	VIT	36889371	0.998000	0.40836	0.060000	0.19600	0.449000	0.32228	3.857000	0.55972	1.225000	0.43566	0.557000	0.71058	CGC		0.587	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				19	20	0	0	0	1	0	19	20				
B3GALT1	8708	broad.mit.edu	37	2	168725943	168725943	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:168725943C>G	ENST00000392690.3	+	1	486	c.394C>G	c.(394-396)Caa>Gaa	p.Q132E	AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.Q132E			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	132					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						GATGGTGGAGCAAGAGAGCCA	0.478																																						ENST00000305861.1																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(394-396)Caa>Gaa		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1							82.0	75.0	77.0					2																	168725943		2203	4300	6503	SO:0001583	missense	8708				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:168725943C>G	E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.394C>G	2.37:g.168725943C>G	ENSP00000376456:p.Gln132Glu					B3GALT1_ENST00000392690.2_Missense_Mutation_p.Q132E|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA	p.Q132E	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN			2	745	+			132					D3DPB8|Q53SS2	Missense_Mutation	SNP	ENST00000392690.3	37	c.394C>G	CCDS2227.1	.	.	.	.	.	.	.	.	.	.	C	1.832	-0.469578	0.04445	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	T;T	0.37915	1.17;1.17	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.22781	0.0550	N	0.12853	0.265	0.54753	D	0.999987	B	0.20887	0.049	B	0.22880	0.042	T	0.06499	-1.0823	10	0.13853	T	0.58	-18.316	17.0573	0.86537	0.1275:0.8725:0.0:0.0	.	132	Q9Y5Z6	B3GT1_HUMAN	E	132	ENSP00000303740:Q132E;ENSP00000376456:Q132E	ENSP00000303740:Q132E	Q	+	1	0	B3GALT1	168434189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.974000	0.70465	2.941000	0.99782	0.655000	0.94253	CAA		0.478	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	NM_020981		20	31	0	0	0	1	0	20	31				
ZNF350	59348	broad.mit.edu	37	19	52468457	52468457	+	Silent	SNP	G	G	A			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr19:52468457G>A	ENST00000243644.4	-	5	1476	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA|ZNF350_ENST00000600703.1_5'Flank	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	417					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TGCTTAACCAGACACGACATA	0.468																																						ENST00000243644.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1249-1251)Ctg>Ttg		zinc finger protein 350							86.0	79.0	81.0					19																	52468457		2203	4300	6503	SO:0001819	synonymous_variant	59348				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:52468457G>A	AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.1249C>T	19.37:g.52468457G>A						HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	p.L417L	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	5	1476	-		all_neural(266;0.0505)	417					Q96G73|Q9HAQ4	Silent	SNP	ENST00000243644.4	37	c.1249C>T	CCDS12845.1																																																																																				0.468	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632		18	13	0	0	0	1	0	18	13				
FRG1	2483	broad.mit.edu	37	4	190878646	190878646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr4:190878646G>T	ENST00000226798.4	+	6	748	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	176					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E176*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGGAGAAGAAGAAATGATCAA	0.373																																						ENST00000226798.4																			1	Substitution - Nonsense(1)	p.E176*(1)	central_nervous_system(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(526-528)Gaa>Taa		FSHD region gene 1							48.0	44.0	45.0					4																	190878646		2179	4274	6453	SO:0001587	stop_gained	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878646G>T	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.526G>T	4.37:g.190878646G>T	ENSP00000226798:p.Glu176*					FRG1_ENST00000514482.1_3'UTR	p.E176*	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	748	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	176					A8K775	Nonsense_Mutation	SNP	ENST00000226798.4	37	c.526G>T	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	34	5.401103	0.96030	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	.	.	.	4.29	3.44	0.39384	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-3.1825	10.4286	0.44393	0.0989:0.0:0.9011:0.0	.	.	.	.	X	176;48;113	.	ENSP00000226798:E176X	E	+	1	0	FRG1	191115640	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.376000	0.73141	0.937000	0.37394	0.454000	0.30748	GAA		0.373	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		3	29	1	0	1	1	1	3	29				
FAM47B	170062	broad.mit.edu	37	X	34962775	34962775	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chrX:34962775G>C	ENST00000329357.5	+	1	1863	c.1827G>C	c.(1825-1827)aaG>aaC	p.K609N		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	609										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCATTGAAAAGCTGTTTGCCA	0.438																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1825-1827)aaG>aaC		family with sequence similarity 47, member B							158.0	144.0	149.0					X																	34962775		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962775G>C	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1827G>C	X.37:g.34962775G>C	ENSP00000328307:p.Lys609Asn						p.K609N	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1863	+			609					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1827G>C	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	0.120	-1.126612	0.01770	.	.	ENSG00000189132	ENST00000329357	T	0.20598	2.06	0.843	-1.69	0.08186	.	.	.	.	.	T	0.08714	0.0216	N	0.20685	0.6	0.09310	N	1	P	0.37276	0.589	B	0.32805	0.153	T	0.13442	-1.0509	8	0.34782	T	0.22	.	.	.	.	.	609	Q8NA70	FA47B_HUMAN	N	609	ENSP00000328307:K609N	ENSP00000328307:K609N	K	+	3	2	FAM47B	34872696	0.097000	0.21791	0.002000	0.10522	0.003000	0.03518	-0.546000	0.06062	-1.862000	0.01151	-1.891000	0.00535	AAG		0.438	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		49	86	0	0	0	1	0	49	86				
CCT8L2	150160	broad.mit.edu	37	22	17073351	17073351	+	Silent	SNP	C	C	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr22:17073351C>T	ENST00000359963.3	-	1	349	c.90G>A	c.(88-90)gaG>gaA	p.E30E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	30					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCAGGTGGGGCTCCTCCTCTT	0.657																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(88-90)gaG>gaA		chaperonin containing TCP1, subunit 8 (theta)-like 2							55.0	60.0	58.0					22																	17073351		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073351C>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.90G>A	22.37:g.17073351C>T							p.E30E	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	349	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	30					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.90G>A	CCDS13738.1																																																																																				0.657	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			14	22	0	0	0	1	0	14	22				
OR1S2	219958	broad.mit.edu	37	11	57971059	57971059	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr11:57971059T>C	ENST00000302592.6	-	1	594	c.595A>G	c.(595-597)Aaa>Gaa	p.K199E		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CAGGACAGTTTGAGCAGAGGG	0.413																																						ENST00000302592.6																			0				endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46						c.(595-597)Aaa>Gaa		olfactory receptor, family 1, subfamily S, member 2							218.0	202.0	207.0					11																	57971059		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57971059T>C	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.595A>G	11.37:g.57971059T>C	ENSP00000305469:p.Lys199Glu						p.K199E	NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN			1	594	-		Breast(21;0.0589)	199					Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.595A>G	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.775261	0.31411	.	.	ENSG00000197887	ENST00000302592	T	0.00253	8.43	4.75	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.936384	0.08891	N	0.878571	T	0.00241	0.0007	M	0.78344	2.41	0.09310	N	1	B	0.16802	0.019	B	0.18561	0.022	T	0.40997	-0.9533	10	0.62326	D	0.03	.	6.1001	0.20043	0.0:0.0853:0.3122:0.6025	.	199	Q8NGQ3	OR1S2_HUMAN	E	199	ENSP00000305469:K199E	ENSP00000305469:K199E	K	-	1	0	OR1S2	57727635	0.000000	0.05858	0.945000	0.38365	0.643000	0.38383	0.562000	0.23531	0.925000	0.37094	0.533000	0.62120	AAA		0.413	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		33	75	0	0	0	1	0	33	75				
FAM111A	63901	broad.mit.edu	37	11	58919526	58919526	+	Missense_Mutation	SNP	C	C	T	rs202134817		TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr11:58919526C>T	ENST00000528737.1	+	5	3203	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	FAM111A_ENST00000531147.1_Missense_Mutation_p.R129C|FAM111A_ENST00000420244.1_Missense_Mutation_p.R129C|FAM111A_ENST00000361723.3_Missense_Mutation_p.R129C|FAM111A_ENST00000533703.1_Missense_Mutation_p.R129C			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	129					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AATGCTTGTGCGTGGCACAGA	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20747	0.0		0.0	False		,,,				2504	0.0					ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(385-387)Cgt>Tgt		family with sequence similarity 111, member A		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4402		0,0,2201	84.0	81.0	82.0		385,385,385,385,385	-10.9	0.0	11		82	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense,missense,missense,missense	FAM111A	NM_001142519.1,NM_001142520.1,NM_001142521.1,NM_022074.3,NM_198847.2	180,180,180,180,180	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	129/612,129/612,129/612,129/612,129/612	58919526	1,12991	2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58919526C>T	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.385C>T	11.37:g.58919526C>T	ENSP00000434435:p.Arg129Cys					FAM111A_ENST00000533703.1_Missense_Mutation_p.R129C|FAM111A_ENST00000531147.1_Missense_Mutation_p.R129C|FAM111A_ENST00000420244.1_Missense_Mutation_p.R129C|FAM111A_ENST00000361723.3_Missense_Mutation_p.R129C	p.R129C			Q96PZ2	F111A_HUMAN			5	3203	+		all_epithelial(135;0.139)	129					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.385C>T	CCDS7973.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.83	1.461019	0.26248	0.0	1.16E-4	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000527629;ENST00000533703;ENST00000531147	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	5.43	-10.9	0.00192	.	2.029340	0.01794	N	0.032506	T	0.13713	0.0332	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.10753	-1.0616	10	0.38643	T	0.18	-8.3227	6.3075	0.21147	0.0821:0.1557:0.1632:0.599	.	129	Q96PZ2	F111A_HUMAN	C	129	ENSP00000434435:R129C;ENSP00000406683:R129C;ENSP00000355264:R129C;ENSP00000436128:R129C;ENSP00000433154:R129C;ENSP00000431631:R129C	ENSP00000355264:R129C	R	+	1	0	FAM111A	58676102	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.342000	0.01099	-2.297000	0.00661	-0.781000	0.03364	CGT		0.443	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		17	31	0	0	0	1	0	17	31				
ATP10D	57205	broad.mit.edu	37	4	47537946	47537946	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr4:47537946A>G	ENST00000273859.3	+	7	1180	c.911A>G	c.(910-912)aAc>aGc	p.N304S	ATP10D_ENST00000504445.1_Missense_Mutation_p.N304S	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	304					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.N304T(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATGCTGAACAACAGTGGGCCA	0.408																																						ENST00000273859.3																			1	Substitution - Missense(1)	p.N304T(1)	ovary(1)	NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(910-912)aAc>aGc		ATPase, class V, type 10D							108.0	96.0	100.0					4																	47537946		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47537946A>G	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.911A>G	4.37:g.47537946A>G	ENSP00000273859:p.Asn304Ser					ATP10D_ENST00000504445.1_Missense_Mutation_p.N304S	p.N304S	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			7	1180	+			304					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.911A>G	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.695150	0.88830	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	D;D	0.90133	-2.62;-2.62	5.31	5.31	0.75309	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92351	0.7573	L	0.37897	1.145	0.53005	D	0.999964	D;D	0.89917	0.971;1.0	D;D	0.91635	0.958;0.999	D	0.91843	0.5485	10	0.38643	T	0.18	-25.2807	14.7496	0.69516	1.0:0.0:0.0:0.0	.	304;304	Q9P241;Q6PEW3	AT10D_HUMAN;.	S	304	ENSP00000273859:N304S;ENSP00000420909:N304S	ENSP00000273859:N304S	N	+	2	0	ATP10D	47232703	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.287000	0.95975	2.129000	0.65627	0.460000	0.39030	AAC		0.408	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		11	37	0	0	0	1	0	11	37				
MYO5A	4644	broad.mit.edu	37	15	52668651	52668651	+	Silent	SNP	G	G	A			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr15:52668651G>A	ENST00000399231.3	-	19	2556	c.2313C>T	c.(2311-2313)atC>atT	p.I771I	MYO5A_ENST00000399233.2_Silent_p.I771I|MYO5A_ENST00000553916.1_Silent_p.I771I|MYO5A_ENST00000356338.6_Silent_p.I771I|MYO5A_ENST00000358212.6_Silent_p.I771I	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	771	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCTGGATCCGGATGCAGGCAG	0.517																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(2311-2313)atC>atT		myosin VA (heavy chain 12, myoxin)							76.0	72.0	73.0					15																	52668651		1912	4145	6057	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52668651G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2313C>T	15.37:g.52668651G>A						MYO5A_ENST00000399233.2_Silent_p.I771I|MYO5A_ENST00000358212.6_Silent_p.I771I|MYO5A_ENST00000553916.1_Silent_p.I771I|MYO5A_ENST00000356338.6_Silent_p.I771I	p.I771I	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	19	2556	-			771			IQ 1.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.2313C>T	CCDS42037.1																																																																																				0.517	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		12	32	0	0	0	1	0	12	32				
STX16	8675	broad.mit.edu	37	20	57251288	57251288	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr20:57251288A>G	ENST00000371141.4	+	9	1643	c.919A>G	c.(919-921)Ata>Gta	p.I307V	STX16_ENST00000359617.4_Missense_Mutation_p.I254V|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000371132.4_Missense_Mutation_p.I286V|STX16_ENST00000355957.5_Missense_Mutation_p.I290V|STX16_ENST00000361830.3_Missense_Mutation_p.I307V|STX16_ENST00000358029.4_Missense_Mutation_p.I303V|STX16_ENST00000361770.5_Missense_Mutation_p.I290V	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	307					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TGTGATTTTAATATTATTTGT	0.433																																						ENST00000371141.4																			0				breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(919-921)Ata>Gta		syntaxin 16							254.0	241.0	245.0					20																	57251288		2203	4300	6503	SO:0001583	missense	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57251288A>G	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.919A>G	20.37:g.57251288A>G	ENSP00000360183:p.Ile307Val					STX16_ENST00000355957.5_Missense_Mutation_p.I290V|STX16_ENST00000358029.4_Missense_Mutation_p.I303V|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000359617.4_Missense_Mutation_p.I254V|STX16_ENST00000361770.5_Missense_Mutation_p.I290V|STX16_ENST00000361830.3_Missense_Mutation_p.I307V|STX16_ENST00000371132.4_Missense_Mutation_p.I286V	p.I307V	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		9	1643	+	all_lung(29;0.0175)		307					A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	ENST00000371141.4	37	c.919A>G	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	A	11.55	1.672494	0.29693	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253;ENST00000435446	T;T;T;T;T;T	0.50277	0.78;0.77;0.75;0.79;0.76;0.75	5.74	4.64	0.57946	.	.	.	.	.	T	0.40171	0.1106	N	0.17764	0.52	0.47778	D	0.999519	P;B;B;P	0.40970	0.734;0.0;0.0;0.734	P;B;B;P	0.50825	0.651;0.001;0.001;0.651	T	0.14811	-1.0459	9	0.07813	T	0.8	.	11.4477	0.50134	0.9292:0.0:0.0708:0.0	.	303;290;286;307	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	V	290;290;307;254;286;303;307;201;121	ENSP00000348229:I290V;ENSP00000355408:I290V;ENSP00000360183:I307V;ENSP00000360173:I286V;ENSP00000350723:I303V;ENSP00000354445:I307V	ENSP00000360180:I254V	I	+	1	0	STX16	56684694	1.000000	0.71417	0.113000	0.21522	0.998000	0.95712	3.608000	0.54109	1.097000	0.41459	0.460000	0.39030	ATA		0.433	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		17	42	0	0	0	1	0	17	42				
SSU72	29101	broad.mit.edu	37	1	1509924	1509924	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr1:1509924delG	ENST00000291386.3	-	1	325	c.14delC	c.(13-15)ccgfs	p.P5fs	SSU72_ENST00000359060.4_Frame_Shift_Del_p.P5fs|AL645728.1_ENST00000366221.2_5'Flank	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	5					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CACCCGCAGCGGGGACGACGG	0.701																																						ENST00000359060.4																			0				large_intestine(2)|lung(5)	7						c.(13-15)cgfs		SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)							39.0	27.0	31.0					1																	1509924		2199	4299	6498	SO:0001589	frameshift_variant	29101				mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	g.chr1:1509924delG	AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"""Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"""			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.14delC	1.37:g.1509924delG	ENSP00000291386:p.Pro5fs					SSU72_ENST00000291386.3_Frame_Shift_Del_p.P5fs	p.P5fs			Q9NP77	SSU72_HUMAN		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	1	40	-	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	5					Q9BZS6|Q9H933	Frame_Shift_Del	DEL	ENST00000291386.3	37	c.14delC	CCDS32.1																																																																																				0.701	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001366.1	NM_014188		2	4						2	4	---	---	---	---
KDM1A	23028	broad.mit.edu	37	1	23356963	23356964	+	Splice_Site	INS	-	-	A			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr1:23356963_23356964insA	ENST00000356634.3	+	2	502_503	c.353_354insA	c.(352-357)gtagag>gtAagag	p.E119fs	KDM1A_ENST00000400181.4_Splice_Site_p.E119fs|KDM1A_ENST00000542151.1_Splice_Site_p.E119fs|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	119					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCCATATAGGTAGAGTACAGAG	0.386																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.e2-1		lysine (K)-specific demethylase 1A																																				SO:0001630	splice_region_variant	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23356963_23356964insA	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.352-1->A	1.37:g.23356964_23356964dupA						RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Splice_Site_p.G118_splice|KDM1A_ENST00000356634.3_Splice_Site_p.G118_splice	p.G118_splice	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			2	457_458	+			118					A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Splice_Site	INS	ENST00000356634.3	37	c.351_splice	CCDS30627.1																																																																																				0.386	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013	Frame_Shift_Ins	9	8						9	8	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708697	180708698	+	lincRNA	INS	-	-	A	rs1815381|rs57699261		TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr5:180708697_180708698insA	ENST00000412295.2	+	0	238																											ggggcggtaggcgggggctgga	0.718																																						ENST00000412295.2																			0																																																			0							g.chr5:180708697_180708698insA																													5.37:g.180708697_180708698insA														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.718	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			2	4						2	4	---	---	---	---
UHRF1	29128	broad.mit.edu	37	19	4960949	4960949	+	RNA	DEL	T	T	-	rs146145010	byFrequency	TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr19:4960949delT	ENST00000592666.1	+	0	3092							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TTTGTCTTCCttttttttttt	0.343													|||unknown(HR)	3886	0.775958	0.674	0.7752	5008	,	,		17212	0.7867		0.8728	False		,,,				2504	0.8037					ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1																																						29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4960949delT	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4960949delT										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	3092	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	DEL	ENST00000592666.1	37																																																																																						0.343	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		4	3						4	3	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42798120	42798121	+	Frame_Shift_Ins	INS	-	-	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr19:42798120_42798121insT	ENST00000575354.2	+	17	4114_4115	c.4074_4075insT	c.(4075-4077)tttfs	p.F1359fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.F2265fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.F1357fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCGAAGAGCGCTTTGCTGAGTT	0.663			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(6790-6795)cgttgcfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42798120_42798121insT	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4077dupT	19.37:g.42798123_42798123dupT	ENSP00000458663:p.Phe1359fs					CIC_ENST00000160740.3_Frame_Shift_Ins_p.C1357fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.C1359fs	p.C2265fs			Q96RK0	CIC_HUMAN			18	6860_6861	+		Prostate(69;0.00682)	1359					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.6792_6793insT	CCDS12601.1																																																																																				0.663	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			34	22						34	22	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31022401	31022402	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr20:31022401_31022402delGT	ENST00000375687.4	+	13	2310_2311	c.1886_1887delGT	c.(1885-1887)ggtfs	p.G629fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.G624fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	629	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGGGCGAGAGGTCACCACTGCC	0.698			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1885-1887)gfs		additional sex combs like 1 (Drosophila)																																				SO:0001589	frameshift_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022401_31022402delGT	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1886_1887delGT	20.37:g.31022401_31022402delGT	ENSP00000364839:p.Gly629fs					ASXL1_ENST00000306058.5_Frame_Shift_Del_p.G624fs	p.G629fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	2310_2311	+			629					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Frame_Shift_Del	DEL	ENST00000375687.4	37	c.1886_1887delGT	CCDS13201.1																																																																																				0.698	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		10	11						10	11	---	---	---	---
