#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
ZAK	51776	broad.mit.edu	37	2	174085985	174085985	+	Intron	SNP	C	C	T	rs547368395		TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr2:174085985C>T	ENST00000375213.3	+	11	1065				MLTK_ENST00000338983.3_Silent_p.N365N|MLTK_ENST00000539448.1_Silent_p.N365N|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000431503.2_Silent_p.N264N|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Intron	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CAACAAGTAACGGGGAGGGCC	0.478																																						ENST00000338983.3																			0											c.(1093-1095)aaC>aaT									125.0	128.0	127.0					2																	174085985		2203	4300	6503	SO:0001627	intron_variant	51776							g.chr2:174085985C>T																												ENST00000375213.3:c.987+4007C>T	2.37:g.174085985C>T						MLTK_ENST00000431503.2_Silent_p.N264N|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000539448.1_Silent_p.N365N|MLTK_ENST00000375213.3_Intron|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA	p.N365N	NM_133646.2	NP_598407.1					12	1290	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Silent	SNP	ENST00000375213.3	37	c.1095C>T	CCDS42777.1																																																																																				0.478	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			6	64	0	0	0	1	0	6	64				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000342960.5_Silent_p.L384L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	56	0	0	0	1	0	4	56				
ATP6V0C	527	broad.mit.edu	37	16	2569716	2569716	+	Silent	SNP	C	C	T			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr16:2569716C>T	ENST00000330398.4	+	3	672	c.438C>T	c.(436-438)ctC>ctT	p.L146L	AMDHD2_ENST00000413459.3_5'Flank|ATP6V0C_ENST00000564973.1_Silent_p.L103L|ATP6C_ENST00000569317.1_Intron|RP11-20I23.1_ENST00000564543.1_3'UTR|AMDHD2_ENST00000293971.6_5'Flank|ATP6V0C_ENST00000565223.1_Silent_p.L103L|AMDHD2_ENST00000302956.4_5'Flank	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	146					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				TCTACGGTCTCATCGTCGCCC	0.597																																						ENST00000330398.4																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(436-438)ctC>ctT		ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c							70.0	68.0	68.0					16																	2569716		2198	4300	6498	SO:0001819	synonymous_variant	527				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding	g.chr16:2569716C>T	M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"""ATPases / V-type"""	855	protein-coding gene	gene with protein product		108745	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"""	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.438C>T	16.37:g.2569716C>T						ATP6V0C_ENST00000565223.1_Silent_p.L103L|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000564973.1_Silent_p.L103L|RP11-20I23.1_ENST00000564543.1_3'UTR	p.L146L	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN			3	672	+		Ovarian(90;0.17)	146					Q6FH26	Silent	SNP	ENST00000330398.4	37	c.438C>T	CCDS10470.1																																																																																				0.597	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250810.1	NM_001694		4	56	0	0	0	1	0	4	56				
HYDIN	54768	broad.mit.edu	37	16	71103196	71103196	+	Missense_Mutation	SNP	G	G	A	rs140028548		TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr16:71103196G>A	ENST00000393567.2	-	14	2098	c.1948C>T	c.(1948-1950)Cgc>Tgc	p.R650C	HYDIN_ENST00000448089.2_Missense_Mutation_p.R650C|HYDIN_ENST00000541601.1_Missense_Mutation_p.R667C|HYDIN_ENST00000538248.1_Missense_Mutation_p.R677C|HYDIN_ENST00000288168.10_Missense_Mutation_p.R667C|HYDIN_ENST00000321489.5_Missense_Mutation_p.R650C|HYDIN_ENST00000393550.2_Missense_Mutation_p.R665C|HYDIN_ENST00000543639.1_5'Flank|HYDIN_ENST00000448691.1_Missense_Mutation_p.R650C	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	650					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCCTGGGGGCGAATGGTGCCA	0.488																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(1948-1950)Cgc>Tgc		HYDIN, axonemal central pair apparatus protein		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4394		0,0,2197	58.0	61.0	60.0		2029,1999,1948,1948	5.3	1.0	16	dbSNP_134	60	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense,missense	HYDIN	NM_001198542.1,NM_001198543.1,NM_017558.3,NM_032821.2	180,180,180,180	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	677/951,667/941,650/1018,650/5121	71103196	1,12987	2197	4297	6494	SO:0001583	missense	54768							g.chr16:71103196G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1948C>T	16.37:g.71103196G>A	ENSP00000377197:p.Arg650Cys					HYDIN_ENST00000541601.1_Missense_Mutation_p.R667C|HYDIN_ENST00000538248.1_Missense_Mutation_p.R677C|HYDIN_ENST00000448691.1_Missense_Mutation_p.R650C|HYDIN_ENST00000448089.2_Missense_Mutation_p.R650C|HYDIN_ENST00000393550.2_Missense_Mutation_p.R665C|HYDIN_ENST00000321489.5_Missense_Mutation_p.R650C|HYDIN_ENST00000288168.10_Missense_Mutation_p.R667C	p.R650C	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			14	2098	-		Ovarian(137;0.0654)	650					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.1948C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493998	0.84962	0.0	1.16E-4	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.27	5.27	0.74061	.	0.000000	0.33792	U	0.004547	T	0.66799	0.2826	M	0.77616	2.38	0.58432	D	0.999999	P;P;D;P;D	0.89917	0.892;0.892;1.0;0.892;1.0	P;P;D;B;D	0.91635	0.474;0.474;0.94;0.405;0.999	T	0.69371	-0.5163	10	0.54805	T	0.06	.	17.7221	0.88355	0.0:0.0:1.0:0.0	.	677;667;667;650;650	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	C	650;650;650;650;650;677;667;667;665	ENSP00000377197:R650C;ENSP00000398544:R650C;ENSP00000394826:R650C;ENSP00000314736:R650C;ENSP00000444970:R677C;ENSP00000437341:R667C;ENSP00000288168:R667C;ENSP00000377181:R665C	ENSP00000288168:R667C	R	-	1	0	HYDIN	69660697	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	7.091000	0.76923	2.474000	0.83562	0.603000	0.83216	CGC		0.488	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			6	35	0	0	0	1	0	6	35				
TCF19	6941	broad.mit.edu	37	6	31129467	31129467	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr6:31129467G>A	ENST00000376257.3	+	3	1236	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	TCF19_ENST00000376255.4_Missense_Mutation_p.R161Q|TCF19_ENST00000496421.1_Intron	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	161					cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GCTCCACAGCGGCCTCTCAGC	0.647																																						ENST00000376257.3																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(481-483)cGg>cAg		transcription factor 19							60.0	69.0	66.0					6																	31129467		1234	2525	3759	SO:0001583	missense	6941				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:31129467G>A	U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"""Zinc fingers, PHD-type"""	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.482G>A	6.37:g.31129467G>A	ENSP00000365433:p.Arg161Gln					TCF19_ENST00000376255.4_Missense_Mutation_p.R161Q|TCF19_ENST00000496421.1_Intron	p.R161Q	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN			3	1236	+			161					A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Missense_Mutation	SNP	ENST00000376257.3	37	c.482G>A	CCDS43446.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569243	0.65765	.	.	ENSG00000137310	ENST00000376257;ENST00000376255;ENST00000542218	T;T;T	0.25414	1.87;1.87;1.8	5.71	4.83	0.62350	.	0.139336	0.51477	D	0.000099	T	0.18551	0.0445	M	0.62723	1.935	0.29896	N	0.824791	D	0.57899	0.981	P	0.47603	0.551	T	0.04203	-1.0969	10	0.30854	T	0.27	-19.8026	11.7129	0.51635	0.0848:0.0:0.9152:0.0	.	161	Q9Y242	TCF19_HUMAN	Q	161;161;81	ENSP00000365433:R161Q;ENSP00000365431:R161Q;ENSP00000439397:R81Q	ENSP00000365431:R161Q	R	+	2	0	TCF19	31237446	0.962000	0.33011	0.997000	0.53966	0.665000	0.39181	2.079000	0.41577	2.695000	0.91970	0.549000	0.68633	CGG		0.647	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076595.2	NM_007109		6	38	0	0	0	1	0	6	38				
C6orf58	352999	broad.mit.edu	37	6	127911362	127911362	+	Nonsense_Mutation	SNP	C	C	T	rs527828175		TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr6:127911362C>T	ENST00000329722.7	+	5	817	c.805C>T	c.(805-807)Cga>Tga	p.R269*		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	269						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CATGCCACCACGAATTCTTCT	0.403																																						ENST00000329722.7																			0				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15						c.(805-807)Cga>Tga		chromosome 6 open reading frame 58							172.0	169.0	170.0					6																	127911362		2203	4300	6503	SO:0001587	stop_gained	352999					extracellular region		g.chr6:127911362C>T	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.805C>T	6.37:g.127911362C>T	ENSP00000328069:p.Arg269*						p.R269*	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN		GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)	5	817	+			269					B4E1I0|Q5VUP2	Nonsense_Mutation	SNP	ENST00000329722.7	37	c.805C>T	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605890	0.28623	.	.	ENSG00000184530	ENST00000329722	.	.	.	5.01	-0.908	0.10517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0099	7.3022	0.26426	0.602:0.3096:0.0:0.0884	.	.	.	.	X	269	.	ENSP00000328069:R269X	R	+	1	2	C6orf58	127953055	0.005000	0.15991	0.139000	0.22197	0.049000	0.14656	-0.196000	0.09532	-0.026000	0.13895	0.655000	0.94253	CGA		0.403	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		9	117	0	0	0	1	0	9	117				
SNORD3C	780853	broad.mit.edu	37	17	19091465	19091465	+	lincRNA	SNP	G	G	C			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr17:19091465G>C	ENST00000362428.1	-	0	432				SNORD3A_ENST00000365494.1_lincRNA					small nucleolar RNA, C/D box 3C																		gcgttgcttggctgcaactgc	0.517																																						ENST00000365494.1																			0																				24.0	15.0	18.0					17																	19091465		873	1963	2836			780851							g.chr17:19091465G>C			17p11.2	2013-09-05			ENSG00000199298	ENSG00000264940			33191	non-coding RNA	RNA, small nucleolar						9365252	Standard	NR_006881		Approved	U3-3					17.37:g.19091465G>C														0	137	+									RNA	SNP	ENST00000362428.1	37																																																																																						0.517	SNORD3C-201	KNOWN	basic	snoRNA	lincRNA		NR_006881		20	261	0	0	0	1	0	20	261				
ABCA9	10350	broad.mit.edu	37	17	66979978	66979978	+	Silent	SNP	G	G	A			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr17:66979978G>A	ENST00000340001.4	-	36	4723	c.4512C>T	c.(4510-4512)tcC>tcT	p.S1504S	ABCA9_ENST00000453985.2_Silent_p.S1466S|ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1504	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGTGTTGGATGGAACCAATAC	0.468																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4510-4512)tcC>tcT		ATP-binding cassette, sub-family A (ABC1), member 9							98.0	88.0	91.0					17																	66979978		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66979978G>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4512C>T	17.37:g.66979978G>A						ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Silent_p.S1466S	p.S1504S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			36	4723	-	Breast(10;1.47e-12)		1504			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.4512C>T	CCDS11681.1																																																																																				0.468	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		3	55	0	0	0	1	0	3	55				
FAM187B	148109	broad.mit.edu	37	19	35718939	35718939	+	Silent	SNP	G	G	A	rs13382163		TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr19:35718939G>A	ENST00000324675.3	-	1	693	c.645C>T	c.(643-645)taC>taT	p.Y215Y		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	215						integral component of membrane (GO:0016021)		p.Y215Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CAAAAATGACGTAATCCACCC	0.537																																						ENST00000324675.3																			1	Substitution - coding silent(1)	p.Y215Y(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(643-645)taC>taT		family with sequence similarity 187, member B							99.0	82.0	88.0					19																	35718939		2203	4300	6503	SO:0001819	synonymous_variant	148109					integral to membrane		g.chr19:35718939G>A	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.645C>T	19.37:g.35718939G>A							p.Y215Y	NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN			1	693	-			215					Q8N7G6	Silent	SNP	ENST00000324675.3	37	c.645C>T	CCDS12448.1																																																																																				0.537	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		3	22	0	0	0	1	0	3	22				
NCOR1P1	149934	broad.mit.edu	37	20	26094557	26094557	+	RNA	SNP	A	A	C	rs372135921	byFrequency	TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr20:26094557A>C	ENST00000478176.1	-	0	107					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		TTACAGAGTGAGGAGGATAAT	0.418													A|||	10	0.00199681	0.0008	0.0014	5008	,	,		17782	0.0		0.007	False		,,,				2504	0.001					ENST00000478176.1																			0															A		0,1384		0,0,692	369.0	293.0	316.0			-2.1	1.0	20		316	11,3171		0,11,1580	no	intergenic				0,11,2272	CC,CA,AA		0.3457,0.0,0.2409			26094557	11,4555	692	1591	2283			149934							g.chr20:26094557A>C	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26094557A>C								NR_003678.1						0	107	-								A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																						0.418	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			3	16	0	0	0	1	0	3	16				
GRIK1	2897	broad.mit.edu	37	21	30927396	30927396	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr21:30927396G>A	ENST00000399907.1	-	16	2995	c.2584C>T	c.(2584-2586)Cgg>Tgg	p.R862W	GRIK1_ENST00000309434.7_Missense_Mutation_p.R864W|GRIK1_ENST00000399909.1_Missense_Mutation_p.R847W|GRIK1_ENST00000327783.4_Missense_Mutation_p.R862W|GRIK1_ENST00000399913.1_Missense_Mutation_p.R862W|GRIK1_ENST00000389125.3_Missense_Mutation_p.R847W|GRIK1_ENST00000399914.1_Missense_Mutation_p.R847W|GRIK1_ENST00000389124.2_Missense_Mutation_p.R862W|GRIK1_ENST00000535441.1_Missense_Mutation_p.R864W	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	862			R -> Q. {ECO:0000269|PubMed:11702055}.		adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R847W(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TTATTCTTCCGTGATTTGTAT	0.393																																						ENST00000399914.1																			1	Substitution - Missense(1)	p.R847W(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(2539-2541)Cgg>Tgg		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						66.0	66.0	66.0					21																	30927396		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30927396G>A		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2584C>T	21.37:g.30927396G>A	ENSP00000382791:p.Arg862Trp					GRIK1_ENST00000309434.7_Missense_Mutation_p.R864W|GRIK1_ENST00000399913.1_Missense_Mutation_p.R862W|GRIK1_ENST00000389124.2_Missense_Mutation_p.R862W|GRIK1_ENST00000389125.3_Missense_Mutation_p.R847W|GRIK1_ENST00000399909.1_Missense_Mutation_p.R847W|GRIK1_ENST00000399907.1_Missense_Mutation_p.R862W|GRIK1_ENST00000327783.4_Missense_Mutation_p.R862W|GRIK1_ENST00000535441.1_Missense_Mutation_p.R864W	p.R847W			P39086	GRIK1_HUMAN			15	3060	-			862					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.2539C>T	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756531	0.69648	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.16324	2.35;2.42;2.4;2.36;2.41;2.35;2.36;2.4;2.38	5.1	4.16	0.48862	.	0.096519	0.64402	D	0.000003	T	0.19406	0.0466	N	0.08118	0	0.58432	D	0.999998	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	P;P;D;D	0.66497	0.88;0.88;0.915;0.944	T	0.13072	-1.0523	10	0.87932	D	0	.	10.889	0.46984	0.0:0.0:0.51:0.49	.	847;862;862;847	E7EPY9;E9PD61;P39086;P39086-2	.;.;GRIK1_HUMAN;.	W	862;847;862;847;864;723;862;862;847;864	ENSP00000327687:R862W;ENSP00000373777:R847W;ENSP00000382797:R862W;ENSP00000382798:R847W;ENSP00000446326:R864W;ENSP00000373776:R862W;ENSP00000382791:R862W;ENSP00000382793:R847W;ENSP00000311646:R864W	ENSP00000311646:R864W	R	-	1	2	GRIK1	29849267	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.189000	0.42621	1.418000	0.47098	0.650000	0.86243	CGG		0.393	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			5	30	0	0	0	1	0	5	30				
NOTCH4	4855	broad.mit.edu	37	6	32163789	32163789	+	Missense_Mutation	SNP	A	A	G			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr6:32163789A>G	ENST00000375023.3	-	30	5575	c.5437T>C	c.(5437-5439)Tgg>Cgg	p.W1813R	NOTCH4_ENST00000443903.2_3'UTR|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1813					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGCAGATCCCAGTGGTTACGT	0.716																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(5437-5439)Tgg>Cgg		notch 4							10.0	13.0	12.0					6																	32163789		1392	2641	4033	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32163789A>G		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5437T>C	6.37:g.32163789A>G	ENSP00000364163:p.Trp1813Arg					NOTCH4_ENST00000443903.2_3'UTR	p.W1813R	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			30	5575	-			1813					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.5437T>C	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.314704	0.60524	.	.	ENSG00000204301	ENST00000375023	T	0.70399	-0.48	4.71	4.71	0.59529	Ankyrin repeat-containing domain (3);	0.000000	0.40222	N	0.001142	T	0.56775	0.2008	N	0.17082	0.46	0.80722	D	1	P;D	0.71674	0.93;0.998	P;D	0.66084	0.671;0.941	T	0.61217	-0.7107	10	0.33940	T	0.23	.	7.1325	0.25510	0.9006:0.0:0.0994:0.0	.	1813;1812	Q99466;B0S882	NOTC4_HUMAN;.	R	1813	ENSP00000364163:W1813R	ENSP00000364163:W1813R	W	-	1	0	NOTCH4	32271767	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	5.360000	0.66086	2.099000	0.63709	0.460000	0.39030	TGG		0.716	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			7	9	0	0	0	1	0	7	9				
AHCTF1	25909	broad.mit.edu	37	1	247067288	247067288	+	Missense_Mutation	SNP	T	T	A			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr1:247067288T>A	ENST00000391829.2	-	7	1052	c.929A>T	c.(928-930)aAt>aTt	p.N310I	AHCTF1_ENST00000366508.1_Missense_Mutation_p.N345I|AHCTF1_ENST00000326225.3_Missense_Mutation_p.N319I			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	310	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACACTTTCTATTACCAAAGGC	0.328																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(1033-1035)aAt>aTt		AT hook containing transcription factor 1							80.0	77.0	78.0					1																	247067288		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247067288T>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.929A>T	1.37:g.247067288T>A	ENSP00000375705:p.Asn310Ile					AHCTF1_ENST00000391829.2_Missense_Mutation_p.N310I|AHCTF1_ENST00000326225.3_Missense_Mutation_p.N319I	p.N345I			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		7	1170	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	310			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.1034A>T		.	.	.	.	.	.	.	.	.	.	T	18.11	3.551690	0.65311	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.22539	1.95;1.95;1.95	5.37	5.37	0.77165	.	0.101870	0.64402	D	0.000004	T	0.13030	0.0316	N	0.08118	0	0.36361	D	0.86073	B;B	0.20052	0.041;0.031	B;B	0.09377	0.004;0.002	T	0.10132	-1.0643	10	0.66056	D	0.02	-16.6712	15.3675	0.74535	0.0:0.0:0.0:1.0	.	345;310	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	I	345;319;310	ENSP00000355464:N345I;ENSP00000355465:N319I;ENSP00000375705:N310I	ENSP00000355465:N319I	N	-	2	0	AHCTF1	245133911	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.503000	0.81632	2.027000	0.59764	0.455000	0.32223	AAT		0.328	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		8	27	0	0	0	1	0	8	27				
HECW2	57520	broad.mit.edu	37	2	197184340	197184340	+	Missense_Mutation	SNP	T	T	C			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr2:197184340T>C	ENST00000260983.3	-	9	1456	c.1274A>G	c.(1273-1275)cAc>cGc	p.H425R	HECW2_ENST00000409111.1_Missense_Mutation_p.H69R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	425					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.H425P(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTGGCCATTGTGTTCGATAGC	0.507																																						ENST00000260983.2																			1	Substitution - Missense(1)	p.H425P(1)	large_intestine(1)	biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(1273-1275)cAc>cGc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							68.0	70.0	69.0					2																	197184340		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197184340T>C	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1274A>G	2.37:g.197184340T>C	ENSP00000260983:p.His425Arg					HECW2_ENST00000409111.1_Missense_Mutation_p.H69R	p.H425R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			9	1456	-			425					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1274A>G	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	T	7.528	0.658035	0.14645	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.30182	1.54;1.57	5.54	5.54	0.83059	.	1.182270	0.05616	N	0.578971	T	0.20820	0.0501	N	0.08118	0	0.39516	D	0.968433	B	0.24186	0.099	B	0.19946	0.027	T	0.02713	-1.1120	10	0.19147	T	0.46	.	14.3964	0.67013	0.0:0.0:0.0:1.0	.	425	Q9P2P5	HECW2_HUMAN	R	69;425	ENSP00000386775:H69R;ENSP00000260983:H425R	ENSP00000260983:H425R	H	-	2	0	HECW2	196892585	1.000000	0.71417	0.812000	0.32479	0.030000	0.12068	4.961000	0.63681	2.321000	0.78463	0.528000	0.53228	CAC		0.507	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		9	59	0	0	0	1	0	9	59				
CPXM1	56265	broad.mit.edu	37	20	2775281	2775281	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr20:2775281C>T	ENST00000380605.2	-	13	1929	c.1865G>A	c.(1864-1866)cGc>cAc	p.R622H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	622					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AATGCCCATGCGCACCTGtgt	0.552																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1864-1866)cGc>cAc		carboxypeptidase X (M14 family), member 1							148.0	94.0	112.0					20																	2775281		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2775281C>T	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1865G>A	20.37:g.2775281C>T	ENSP00000369979:p.Arg622His						p.R622H	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			13	1929	-			622					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1865G>A	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	8.601	0.886828	0.17540	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.03065	4.06	5.53	5.53	0.82687	Peptidase M14, carboxypeptidase A (1);	0.051839	0.85682	D	0.000000	T	0.00875	0.0029	N	0.00166	-1.94	0.43745	D	0.996249	B	0.19706	0.038	B	0.08055	0.003	T	0.48885	-0.8995	10	0.02654	T	1	-23.4047	10.2233	0.43209	0.0:0.9129:0.0:0.0871	.	622	Q96SM3	CPXM1_HUMAN	H	622;318	ENSP00000369979:R622H	ENSP00000369979:R622H	R	-	2	0	CPXM1	2723281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.171000	0.50824	2.882000	0.98803	0.655000	0.94253	CGC		0.552	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		3	30	0	0	0	1	0	3	30				
ZEB1	6935	broad.mit.edu	37	10	31791358	31791358	+	Silent	SNP	C	C	T			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr10:31791358C>T	ENST00000320985.10	+	4	512	c.402C>T	c.(400-402)gaC>gaT	p.D134D	ZEB1_ENST00000542815.3_Silent_p.D67D|ZEB1_ENST00000361642.5_Silent_p.D135D|ZEB1_ENST00000446923.2_Silent_p.D118D|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Silent_p.D114D			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	134					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AACAACAAGACACTGCTGTCA	0.408																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(352-354)gaC>gaT		zinc finger E-box binding homeobox 1							148.0	140.0	142.0					10																	31791358		2203	4300	6503	SO:0001819	synonymous_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31791358C>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.402C>T	10.37:g.31791358C>T						ZEB1_ENST00000320985.10_Silent_p.D134D|ZEB1_ENST00000542815.3_Silent_p.D67D|ZEB1_ENST00000361642.5_Silent_p.D135D|ZEB1_ENST00000560721.2_Silent_p.D114D|ZEB1_ENST00000559858.1_3'UTR	p.D118D	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			4	745	+		Prostate(175;0.0156)	134					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	c.354C>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261691	0.23051	.	.	ENSG00000148516	ENST00000543514	.	.	.	5.82	0.811	0.18739	.	.	.	.	.	T	0.63710	0.2534	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64901	-0.6298	5	0.87932	D	0	-22.9099	9.1713	0.37083	0.0:0.5329:0.0:0.4671	.	.	.	.	I	26	.	ENSP00000443742:T26I	T	+	2	0	ZEB1	31831364	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.522000	0.22909	0.374000	0.24650	0.650000	0.86243	ACA		0.408	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		6	40	0	0	0	1	0	6	40				
NSUN7	79730	broad.mit.edu	37	4	40792724	40792724	+	Missense_Mutation	SNP	T	T	C			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr4:40792724T>C	ENST00000381782.2	+	8	1637	c.1142T>C	c.(1141-1143)gTt>gCt	p.V381A	NSUN7_ENST00000316607.5_Missense_Mutation_p.V381A	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	381							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GGACTGGGTGTTAGTAATCCA	0.269																																						ENST00000381782.2																			0				NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(1141-1143)gTt>gCt		NOP2/Sun domain family, member 7							74.0	80.0	78.0					4																	40792724		2203	4296	6499	SO:0001583	missense	79730							g.chr4:40792724T>C	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.1142T>C	4.37:g.40792724T>C	ENSP00000371201:p.Val381Ala					NSUN7_ENST00000316607.5_Missense_Mutation_p.V381A	p.V381A	NM_024677.4	NP_078953.3					8	1637	+								C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	37	c.1142T>C	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	T	16.43	3.120815	0.56613	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.45668	0.89;0.89	5.86	5.86	0.93980	.	0.371868	0.28262	N	0.015995	T	0.48169	0.1485	M	0.77313	2.365	0.40631	D	0.981857	P;B	0.39696	0.683;0.204	B;B	0.38755	0.281;0.093	T	0.54529	-0.8280	10	0.48119	T	0.1	-12.4423	15.2231	0.73330	0.0:0.0:0.0:1.0	.	381;381	Q8NE18;Q8NE18-2	NSUN7_HUMAN;.	A	381	ENSP00000371201:V381A;ENSP00000319127:V381A	ENSP00000319127:V381A	V	+	2	0	NSUN7	40487481	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.673000	0.54591	2.238000	0.73509	0.477000	0.44152	GTT		0.269	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		3	70	0	0	0	1	0	3	70				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		3	23	0	0	0	1	0	3	23				
FLRT2	23768	broad.mit.edu	37	14	86089608	86089608	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr14:86089608C>T	ENST00000330753.4	+	2	2517	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	FLRT2_ENST00000554746.1_Missense_Mutation_p.R584W	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	584					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCGGGGCCGGCGGAAAGATGA	0.493																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1750-1752)Cgg>Tgg		fibronectin leucine rich transmembrane protein 2							85.0	93.0	90.0					14																	86089608		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089608C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1750C>T	14.37:g.86089608C>T	ENSP00000332879:p.Arg584Trp					FLRT2_ENST00000554746.1_Missense_Mutation_p.R584W	p.R584W	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2517	+			584					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1750C>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.662086	0.67700	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.61040	0.14;0.14	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67636	0.2914	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.68483	0.958	T	0.68853	-0.5299	10	0.87932	D	0	-20.5728	20.8794	0.99867	0.0:1.0:0.0:0.0	.	584	O43155	FLRT2_HUMAN	W	584;584;237	ENSP00000332879:R584W;ENSP00000451050:R584W	ENSP00000332879:R584W	R	+	1	2	FLRT2	85159361	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.013000	0.64023	2.941000	0.99782	0.655000	0.94253	CGG		0.493	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			9	74	0	0	0	1	0	9	74				
RP11-473J6.1	0	broad.mit.edu	37	8	35764050	35764050	+	lincRNA	DEL	T	T	-			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr8:35764050delT	ENST00000523748.1	+	0	366																											actgctcgcctttatctttgt	0.532																																						ENST00000523748.1																			0																																																			0							g.chr8:35764050delT																													8.37:g.35764050delT														0	366	+									RNA	DEL	ENST00000523748.1	37																																																																																						0.532	RP11-473J6.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000376648.1			2	4						2	4	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|RP6-65G23.3_ENST00000557691.1_lincRNA	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			3	4						3	4	---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45790742	45790742	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr19:45790742delC	ENST00000262891.4	+	13	1645	c.1314delC	c.(1312-1314)agcfs	p.S438fs	MARK4_ENST00000300843.4_Frame_Shift_Del_p.S438fs	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	438					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCAAACGCAGCCCGACGAGCA	0.701																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1312-1314)agfs		MAP/microtubule affinity-regulating kinase 4							8.0	10.0	9.0					19																	45790742		2146	4227	6373	SO:0001589	frameshift_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45790742delC	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1314delC	19.37:g.45790742delC	ENSP00000262891:p.Ser438fs					MARK4_ENST00000262891.4_Frame_Shift_Del_p.S438fs	p.S438fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	13	1611	+		all_neural(266;0.224)|Ovarian(192;0.231)	438					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Frame_Shift_Del	DEL	ENST00000262891.4	37	c.1314delC	CCDS56097.1																																																																																				0.701	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		2	4						2	4	---	---	---	---
HELZ2	85441	broad.mit.edu	37	20	62193251	62193251	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr20:62193251delG	ENST00000467148.1	-	11	6685	c.6616delC	c.(6616-6618)cgtfs	p.R2206fs	HELZ2_ENST00000427522.2_Frame_Shift_Del_p.R1637fs	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2206	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TTCTCCCCACGGGGGGGGCCT	0.647																																						ENST00000467148.1																			0											c.(6616-6618)gtfs		helicase with zinc finger 2, transcriptional coactivator			,	50,45,3881		3,0,44,1,43,1897					,	-2.0	0.0			7	161,78,7677		5,0,151,1,76,3725	no	codingComplex,codingComplex	PRIC285	NM_033405.3,NM_001037335.2	,	8,0,195,2,119,5622	A1A1,A1A2,A1R,A2A2,A2R,RR		3.0192,2.3893,2.8086	,	,		211,123,11558				SO:0001589	frameshift_variant	85441							g.chr20:62193251delG	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6616delC	20.37:g.62193251delG	ENSP00000417401:p.Arg2206fs					HELZ2_ENST00000427522.2_Frame_Shift_Del_p.R1637fs	p.R2206fs	NM_001037335.2	NP_001032412.2					11	6685	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Frame_Shift_Del	DEL	ENST00000467148.1	37	c.6616delC	CCDS33508.1																																																																																				0.647	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		3	6						3	6	---	---	---	---
