#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
DPY19L2P2	349152	broad.mit.edu	37	7	102850743	102850743	+	RNA	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr7:102850743C>T	ENST00000312132.4	-	0	3363							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										CTAAAACACGCGAAATATCAC	0.259																																						ENST00000312132.4																			0																																																			349152							g.chr7:102850743C>T	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102850743C>T														0	3363	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.259	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		8	16	0	0	0	1	0	8	16				
SUPT16H	11198	broad.mit.edu	37	14	21825383	21825383	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr14:21825383G>A	ENST00000216297.2	-	22	2971	c.2633C>T	c.(2632-2634)tCt>tTt	p.S878F		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	878					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GGGGTCAAGAGAGGCTACAGG	0.433																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(2632-2634)tCt>tTt		suppressor of Ty 16 homolog (S. cerevisiae)							187.0	141.0	156.0					14																	21825383		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21825383G>A	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2633C>T	14.37:g.21825383G>A	ENSP00000216297:p.Ser878Phe						p.S878F	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	22	2971	-	all_cancers(95;0.00115)		878					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2633C>T	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903200	0.92035	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.62	5.62	0.85841	Translation elongation factor EFG/EF2, C-terminal (1);Domain of unknown function DUF1747, eukaryote (1);	0.000000	0.85682	D	0.000000	T	0.74756	0.3758	M	0.65975	2.015	0.80722	D	1	D	0.58970	0.984	D	0.65233	0.933	T	0.68349	-0.5432	9	0.11485	T	0.65	-13.1871	18.4299	0.90622	0.0:0.0:1.0:0.0	.	878	Q9Y5B9	SP16H_HUMAN	F	878	.	ENSP00000216297:S878F	S	-	2	0	SUPT16H	20895223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.882000	0.92420	2.646000	0.89796	0.655000	0.94253	TCT		0.433	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			4	28	0	0	0	1	0	4	28				
MAGEB1	4112	broad.mit.edu	37	X	30268674	30268674	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chrX:30268674A>T	ENST00000378981.3	+	4	385	c.64A>T	c.(64-66)Acc>Tcc	p.T22S	MAGEB1_ENST00000397550.1_Missense_Mutation_p.T22S|MAGEB1_ENST00000397548.2_Missense_Mutation_p.T22S	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	22										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GCGAGAGGAGACCCAGGGTCT	0.592																																						ENST00000378981.3																			0				NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(64-66)Acc>Tcc		melanoma antigen family B, 1							42.0	33.0	36.0					X																	30268674		2202	4299	6501	SO:0001583	missense	4112							g.chrX:30268674A>T		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.64A>T	X.37:g.30268674A>T	ENSP00000368264:p.Thr22Ser					MAGEB1_ENST00000397548.2_Missense_Mutation_p.T22S|MAGEB1_ENST00000397550.1_Missense_Mutation_p.T22S	p.T22S	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN			4	385	+			22					B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.64A>T	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.641936	0.29157	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.04862	3.54;3.54;3.54	3.99	-2.69	0.06022	Melanoma associated antigen, MAGE, N-terminal (1);	1.616940	0.04049	N	0.304496	T	0.10294	0.0252	L	0.61387	1.9	0.09310	N	1	B	0.34103	0.437	P	0.44422	0.449	T	0.33675	-0.9859	10	0.29301	T	0.29	.	1.0322	0.01540	0.2921:0.1803:0.3488:0.1787	.	22	P43366	MAGB1_HUMAN	S	22	ENSP00000368264:T22S;ENSP00000380683:T22S;ENSP00000380681:T22S	ENSP00000368264:T22S	T	+	1	0	MAGEB1	30178595	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.316000	0.08071	-0.703000	0.05049	0.486000	0.48141	ACC		0.592	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		3	10	0	0	0	1	0	3	10				
PPT2	9374	broad.mit.edu	37	6	32130673	32130673	+	Silent	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr6:32130673C>T	ENST00000324816.6	+	9	1423	c.855C>T	c.(853-855)gcC>gcT	p.A285A	EGFL8_ENST00000333845.6_5'Flank|PPT2-EGFL8_ENST00000453656.2_Intron|EGFL8_ENST00000395512.1_5'Flank|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000395523.1_Silent_p.A285A|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000375143.2_Silent_p.A285A|PPT2_ENST00000361568.2_Silent_p.A291A|PPT2_ENST00000445576.2_Intron|PPT2_ENST00000375137.2_Silent_p.A285A			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	285					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CCCACACAGCCTGGCACTCCA	0.547																																						ENST00000324816.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						c.(853-855)gcC>gcT		palmitoyl-protein thioesterase 2							140.0	151.0	147.0					6																	32130673		2203	4300	6503	SO:0001819	synonymous_variant	9374				protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	g.chr6:32130673C>T	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.855C>T	6.37:g.32130673C>T						PPT2_ENST00000445576.2_Intron|PPT2_ENST00000375143.2_Silent_p.A285A|PPT2_ENST00000395523.1_Silent_p.A285A|PPT2_ENST00000361568.2_Silent_p.A291A|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000375137.2_Silent_p.A285A|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000437001.2_Intron	p.A285A			Q9UMR5	PPT2_HUMAN			9	1423	+			285					A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Silent	SNP	ENST00000324816.6	37	c.855C>T	CCDS4742.1																																																																																				0.547	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717		51	135	0	0	0	1	0	51	135				
RPTN	126638	broad.mit.edu	37	1	152128186	152128186	+	Silent	SNP	A	A	G			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1387-1389)taT>taC		repetin							788.0	697.0	725.0					1																	152128186		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128186A>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1389T>C	1.37:g.152128186A>G							p.Y463Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1453	-			463			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1389T>C	CCDS41397.1																																																																																				0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	865	0	0	0	1	0	7	865				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			28313							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			3	58	0	0	0	1	0	3	58				
ZNF407	55628	broad.mit.edu	37	18	72775248	72775248	+	Silent	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr18:72775248G>A	ENST00000299687.5	+	8	5571	c.5571G>A	c.(5569-5571)gcG>gcA	p.A1857A		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1857					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGAGGCCAGCGCCGCCCCCTG	0.682																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5569-5571)gcG>gcA		zinc finger protein 407							46.0	61.0	56.0					18																	72775248		2072	4210	6282	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775248G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5571G>A	18.37:g.72775248G>A							p.A1857A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	5571	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1857					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.5571G>A	CCDS45885.1																																																																																				0.682	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		21	55	0	0	0	1	0	21	55				
RPL23AP7	118433	broad.mit.edu	37	2	114369629	114369629	+	RNA	SNP	G	G	T	rs112337169	byFrequency	TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr2:114369629G>T	ENST00000416673.2	-	0	527					NR_000029.3				ribosomal protein L23a pseudogene 7																		GTTTCTCCTGGGGGTGCTCTT	0.532																																						ENST00000416673.2																			0																																																			118433							g.chr2:114369629G>T	BC000596		2q14	2009-03-11				ENSG00000240356		"""L ribosomal proteins"""	17336	pseudogene	pseudogene						19123937	Standard	NR_000029		Approved	RPL23AL1, bA395L14.9	uc010yxy.1				2.37:g.114369629G>T								NR_000029.3						0	527	-									RNA	SNP	ENST00000416673.2	37																																																																																						0.532	RPL23AP7-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000397215.1			4	33	1	0	0.0581538	1	0.0581538	4	33				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	75	0	0	0	1	0	3	75				
SARS2	54938	broad.mit.edu	37	19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	MRPS12_ENST00000407800.2_5'Flank|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|SARS2_ENST00000448145.2_Intron|MRPS12_ENST00000308018.4_5'UTR|MRPS12_ENST00000402029.3_5'Flank|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|SARS2_ENST00000594171.1_5'Flank	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221431.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(142-144)gCg>gTg		seryl-tRNA synthetase 2, mitochondrial							97.0	84.0	88.0					19																	39421234		2203	4300	6503	SO:0001583	missense	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39421234G>A	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.143C>T	19.37:g.39421234G>A	ENSP00000221431:p.Ala48Val		OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V	p.A48V	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		1	302	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		48					A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	ENST00000221431.6	37	c.143C>T	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512002	0.44660	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000455102	T;T;T	0.55588	0.51;0.51;1.49	5.65	4.57	0.56435	.	0.122893	0.53938	D	0.000045	T	0.40979	0.1139	L	0.43923	1.385	.	.	.	D;B;B	0.56746	0.977;0.206;0.257	B;B;B	0.43623	0.425;0.014;0.007	T	0.44952	-0.9294	9	0.16896	T	0.51	.	8.6175	0.33840	0.1027:0.0:0.8973:0.0	.	48;48;48	B4DJP6;B4DE10;Q9NP81	.;.;SYSM_HUMAN	V	48	ENSP00000406754:A48V;ENSP00000221431:A48V;ENSP00000414954:A48V	ENSP00000221431:A48V	A	-	2	0	FBXO17	44113074	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	3.764000	0.55264	2.941000	0.99782	0.655000	0.94253	GCG		0.627	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		4	120	0	0	0	1	0	4	120				
PPP1R3B	79660	broad.mit.edu	37	8	8998550	8998550	+	Silent	SNP	A	A	G			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr8:8998550A>G	ENST00000310455.3	-	2	762	c.612T>C	c.(610-612)tcT>tcC	p.S204S	RP11-10A14.3_ENST00000520017.1_RNA|PPP1R3B_ENST00000519699.1_Silent_p.S204S|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	204	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		TTCTTTCATAAGACTGAATCT	0.483																																						ENST00000310455.3																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(610-612)tcT>tcC		protein phosphatase 1, regulatory subunit 3B							186.0	156.0	166.0					8																	8998550		2203	4300	6503	SO:0001819	synonymous_variant	79660				glycogen metabolic process			g.chr8:8998550A>G	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.612T>C	8.37:g.8998550A>G						PPP1R3B_ENST00000519699.1_Silent_p.S204S	p.S204S	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	762	-			204			CBM21.		B3KTV3|Q9H812	Silent	SNP	ENST00000310455.3	37	c.612T>C	CCDS5973.1																																																																																				0.483	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		3	38	0	0	0	1	0	3	38				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	79	0	0	0	1	0	4	79				
XPNPEP2	7512	broad.mit.edu	37	X	128887218	128887218	+	Silent	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chrX:128887218C>T	ENST00000371106.3	+	11	1293	c.1101C>T	c.(1099-1101)gcC>gcT	p.A367A		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	367						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TCCTCAAGGCCAGCCACGTAA	0.547																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(1099-1101)gcC>gcT		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							145.0	113.0	123.0					X																	128887218		2203	4299	6502	SO:0001819	synonymous_variant	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128887218C>T	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1101C>T	X.37:g.128887218C>T							p.A367A	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN			11	1293	+			367					A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	c.1101C>T	CCDS14613.1																																																																																				0.547	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		30	30	0	0	0	1	0	30	30				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	183	0	0	0	1	0	4	183				
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:155887393T>G	ENST00000368321.3	-	11	1360	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q446P	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1336-1338)cAg>cCg		KIAA0907							14.0	18.0	16.0					1																	155887393		2157	4273	6430	SO:0001583	missense	22889							g.chr1:155887393T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1337A>C	1.37:g.155887393T>G	ENSP00000357304:p.Gln446Pro					KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P	p.Q446P			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1362	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		446			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1337A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413076	0.25465	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.32753	1.44;1.44	5.76	0.471	0.16752	.	0.977681	0.08344	N	0.960281	T	0.04003	0.0112	N	0.03608	-0.345	0.29419	N	0.860713	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43442	-0.9391	10	0.22706	T	0.39	.	8.2981	0.31997	0.1873:0.0:0.4136:0.3991	.	446;446	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	446	ENSP00000357304:Q446P;ENSP00000357303:Q446P	ENSP00000357303:Q446P	Q	-	2	0	KIAA0907	154154017	0.988000	0.35896	0.899000	0.35326	0.963000	0.63663	-0.615000	0.05597	-0.064000	0.13043	0.533000	0.62120	CAG		0.567	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		5	26	0	0	0	1	0	5	26				
INSRR	3645	broad.mit.edu	37	1	156815542	156815542	+	Silent	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:156815542G>A	ENST00000368195.3	-	10	2439	c.2043C>T	c.(2041-2043)gcC>gcT	p.A681A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	681	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACTCCATCTCGGCCTCAGGAT	0.637																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2041-2043)gcC>gcT		insulin receptor-related receptor							43.0	38.0	40.0					1																	156815542		2203	4300	6503	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156815542G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2043C>T	1.37:g.156815542G>A						NTRK1_ENST00000392302.2_Intron	p.A681A	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			10	2439	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		681			Fibronectin type-III 2.		O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.2043C>T	CCDS1160.1																																																																																				0.637	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		10	43	0	0	0	1	0	10	43				
LPHN3	23284	broad.mit.edu	37	4	62903516	62903516	+	Missense_Mutation	SNP	T	T	C	rs190804185	byFrequency	TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr4:62903516T>C	ENST00000514591.1	+	23	3784	c.3455T>C	c.(3454-3456)aTt>aCt	p.I1152T	LPHN3_ENST00000506720.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000545650.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000506746.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000509896.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000507164.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000508946.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000508693.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000506700.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000512091.2_Missense_Mutation_p.I1152T|LPHN3_ENST00000514157.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000507625.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000504896.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000514996.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000511324.1_Missense_Mutation_p.I1211T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1130					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.I1152N(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAGAGTTCCATTGGTTCAGGG	0.403																																						ENST00000512091.1																			1	Substitution - Missense(1)	p.I1152N(1)	lung(1)	breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(3454-3456)aTt>aCt		latrophilin 3							141.0	143.0	142.0					4																	62903516		1983	4174	6157	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62903516T>C	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3455T>C	4.37:g.62903516T>C	ENSP00000422533:p.Ile1152Thr					LPHN3_ENST00000507164.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000506746.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000506720.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000506700.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000514157.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000507625.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000504896.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000511324.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000514591.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000545650.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000509896.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000508693.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000514996.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000508946.1_Missense_Mutation_p.I1152T	p.I1152T			Q9HAR2	LPHN3_HUMAN			23	4202	+			1130					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.3455T>C	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651016	0.29336	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.33	5.33	0.75918	GPCR, family 2, latrophilin, C-terminal (1);	0.269678	0.38217	N	0.001767	T	0.40015	0.1100	L	0.36672	1.1	0.38069	D	0.936311	B;B;B	0.33777	0.425;0.425;0.241	B;B;B	0.31812	0.136;0.136;0.08	T	0.39035	-0.9633	10	0.23891	T	0.37	.	10.7839	0.46395	0.1415:0.0:0.0:0.8585	.	1152;1130;1152	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	T	1152;1152;1220;1211;1143;1152;1130;1152;1211;1220;1211;1143;1152;1152;1220;1211;1143	ENSP00000423388:I1152T;ENSP00000422533:I1152T;ENSP00000423787:I1220T;ENSP00000425033:I1211T;ENSP00000424120:I1143T;ENSP00000439831:I1152T;ENSP00000421476:I1211T;ENSP00000424030:I1220T;ENSP00000421372:I1211T;ENSP00000425201:I1143T;ENSP00000423434:I1152T;ENSP00000421627:I1152T;ENSP00000420931:I1220T;ENSP00000425884:I1211T;ENSP00000424258:I1143T	ENSP00000280009:I1152T	I	+	2	0	LPHN3	62586111	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.737000	0.55060	2.144000	0.66660	0.528000	0.53228	ATT		0.403	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			5	62	0	0	0	1	0	5	62				
NBPF9	400818	broad.mit.edu	37	1	144828599	144828599	+	Missense_Mutation	SNP	G	G	A	rs28736716		TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:144828599G>A	ENST00000281815.8	+	13	1185	c.439G>A	c.(439-441)Gga>Aga	p.G147R	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.G549R			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	807						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						CTCACTGGATGGATGTTATTC	0.463																																						ENST00000338347.4																			0				NS(2)|prostate(1)	3						c.(1645-1647)Gga>Aga		neuroblastoma breakpoint family, member 9							130.0	110.0	116.0					1																	144828599		692	1591	2283	SO:0001583	missense	400818							g.chr1:144828599G>A		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.439G>A	1.37:g.144828599G>A	ENSP00000281815:p.Gly147Arg					NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.G147R	p.G549R							14	1645	+									Missense_Mutation	SNP	ENST00000281815.8	37	c.1645G>A		519|519	0.23763736263736263|0.23763736263736263	96|96	0.1951219512195122|0.1951219512195122	80|80	0.22099447513812154|0.22099447513812154	178|178	0.3111888111888112|0.3111888111888112	165|165	0.21767810026385223|0.21767810026385223	.|.	0.003|0.003	-2.499691|-2.499691	0.00157|0.00157	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000338347;ENST00000281815|ENST00000375552	T;T|.	0.05081|.	3.5;3.5|.	0.618|0.618	-0.771|-0.771	0.11002|0.11002	.|.	.|.	.|.	.|.	.|.	T|T	0.07188|0.07188	0.0182|0.0182	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.15930|.	0.0;0.003;0.004;0.015|.	B;B;B;B|.	0.21360|.	0.003;0.013;0.009;0.034|.	T|T	0.38436|0.38436	-0.9661|-0.9661	7|3	0.02654|.	T|.	1|.	.|.	.|.	.|.	.|.	rs28736716|rs28736716	209;780;555;622|.	A8K9F1;B4DG53;Q8IX72;Q5TB04|.	.;.;.;.|.	R|I	549;147|622	ENSP00000342975:G549R;ENSP00000281815:G147R|.	ENSP00000281815:G147R|.	G|M	+|+	1|3	0|0	NBPF9|NBPF9	143539956|143539956	0.490000|0.490000	0.26012|0.26012	0.010000|0.010000	0.14722|0.14722	0.008000|0.008000	0.06430|0.06430	-0.273000|-0.273000	0.08548|0.08548	-1.090000|-1.090000	0.03069|0.03069	-1.220000|-1.220000	0.01600|0.01600	GGA|ATG		0.463	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		5	322	0	0	0	1	0	5	322				
BZW2	28969	broad.mit.edu	37	7	16734587	16734587	+	Silent	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr7:16734587G>A	ENST00000433922.2	+	8	958	c.780G>A	c.(778-780)aaG>aaA	p.K260K	BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000432311.1_Intron|BZW2_ENST00000405202.1_Silent_p.K184K|BZW2_ENST00000407633.1_Silent_p.K66K|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000258761.3_Silent_p.K260K	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	260	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AACTGCAGAAGGAGCTCCAGG	0.522																																						ENST00000433922.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(778-780)aaG>aaA		basic leucine zipper and W2 domains 2							61.0	57.0	59.0					7																	16734587		2203	4300	6503	SO:0001819	synonymous_variant	28969				cell differentiation|nervous system development|RNA metabolic process		protein binding	g.chr7:16734587G>A	AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.780G>A	7.37:g.16734587G>A						BZW2_ENST00000405202.1_Silent_p.K184K|BZW2_ENST00000407633.1_Silent_p.K66K|BZW2_ENST00000258761.3_Silent_p.K260K|BZW2_ENST00000452975.2_3'UTR	p.K260K	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.199)	8	958	+	Lung NSC(10;0.0367)|all_lung(11;0.0837)		260			W2.		A4D123|Q3B779|Q96JW5|Q9H3F7	Silent	SNP	ENST00000433922.2	37	c.780G>A	CCDS5362.1																																																																																				0.522	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2	NM_014038		3	37	0	0	0	1	0	3	37				
KMT2C	58508	broad.mit.edu	37	7	152027726	152027726	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr7:152027726C>T	ENST00000262189.6	-	3	567	c.349G>A	c.(349-351)Gca>Aca	p.A117T	KMT2C_ENST00000355193.2_Missense_Mutation_p.A117T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	117					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGGGAGTTTGCCGATTCCTCA	0.428																																						ENST00000355193.2																			0											c.(349-351)Gca>Aca		lysine (K)-specific methyltransferase 2C							208.0	195.0	199.0					7																	152027726		2203	4300	6503	SO:0001583	missense	58508							g.chr7:152027726C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.349G>A	7.37:g.152027726C>T	ENSP00000262189:p.Ala117Thr					KMT2C_ENST00000262189.6_Missense_Mutation_p.A117T	p.A117T							3	567	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.349G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628690	0.46944	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000452749	D;D	0.84070	-1.8;-1.8	5.54	2.52	0.30459	.	0.143667	0.31145	N	0.008163	T	0.72890	0.3517	L	0.32530	0.975	0.20873	N	0.999838	B	0.12630	0.006	B	0.12837	0.008	T	0.66404	-0.5932	10	0.59425	D	0.04	.	10.0261	0.42072	0.2451:0.6871:0.0:0.0678	.	117	Q8NEZ4	MLL3_HUMAN	T	117;117;118	ENSP00000262189:A117T;ENSP00000347325:A117T	ENSP00000262189:A117T	A	-	1	0	MLL3	151658659	0.002000	0.14202	0.015000	0.15790	0.994000	0.84299	-0.030000	0.12308	1.303000	0.44873	0.650000	0.86243	GCA		0.428	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	101	0	0	0	1	0	4	101				
KAT6A	7994	broad.mit.edu	37	8	41805396	41805396	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr8:41805396T>A	ENST00000396930.3	-	12	2318	c.1775A>T	c.(1774-1776)aAc>aTc	p.N592I	KAT6A_ENST00000265713.2_Missense_Mutation_p.N592I|KAT6A_ENST00000485568.1_Missense_Mutation_p.N592I|KAT6A_ENST00000406337.1_Missense_Mutation_p.N592I	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	592	Catalytic.|Interaction with PML.|Interaction with RUNX1-1.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AAGACACAGGTTTTGACAATA	0.363																																						ENST00000396930.3																			0											c.(1774-1776)aAc>aTc		K(lysine) acetyltransferase 6A							91.0	87.0	88.0					8																	41805396		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41805396T>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1775A>T	8.37:g.41805396T>A	ENSP00000380136:p.Asn592Ile					KAT6A_ENST00000485568.1_Missense_Mutation_p.N592I|KAT6A_ENST00000406337.1_Missense_Mutation_p.N592I|KAT6A_ENST00000265713.2_Missense_Mutation_p.N592I	p.N592I	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			12	2318	-			592			Catalytic.|Interaction with RUNX1-1.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.1775A>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	6.972	0.549415	0.13374	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.87809	-0.28;-0.28;-0.28;-2.3	5.61	4.44	0.53790	.	0.141911	0.48286	D	0.000190	D	0.94699	0.8290	M	0.93420	3.415	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.80764	0.987;0.994	D	0.95123	0.8248	10	0.87932	D	0	-27.1949	12.8312	0.57746	0.0:0.0:0.1365:0.8635	.	592;592	A5PLL3;Q92794	.;KAT6A_HUMAN	I	592;592;592;172;592	ENSP00000265713:N592I;ENSP00000385888:N592I;ENSP00000380136:N592I;ENSP00000430606:N592I	ENSP00000265713:N592I	N	-	2	0	KAT6A	41924553	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	8.040000	0.89188	0.937000	0.37394	-0.316000	0.08728	AAC		0.363	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		3	31	0	0	0	1	0	3	31				
FAM122C	159091	broad.mit.edu	37	X	133948879	133948879	+	Splice_Site	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chrX:133948879G>A	ENST00000370784.4	+	2	595	c.189G>A	c.(187-189)ctG>ctA	p.L63L	FAM122C_ENST00000445123.1_De_novo_Start_OutOfFrame|FAM122C_ENST00000370785.3_Splice_Site_p.L63L|FAM122C_ENST00000414371.2_Splice_Site_p.L99L	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	63										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					GACGCTCTCTGGTAAGGAAAT	0.383																																						ENST00000445123.1																			0				endometrium(2)|kidney(1)|lung(2)	5								family with sequence similarity 122C							108.0	105.0	106.0					X																	133948879		2203	4300	6503	SO:0001630	splice_region_variant	159091							g.chrX:133948879G>A	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.189+1G>A	X.37:g.133948879G>A						FAM122C_ENST00000414371.2_Splice_Site_p.L99_splice|FAM122C_ENST00000370784.4_Splice_Site_p.L63_splice|FAM122C_ENST00000370785.3_Splice_Site_p.L63_splice				Q6P4D5	F222C_HUMAN			0	353	+	Acute lymphoblastic leukemia(192;0.000127)							F5H036|Q8WVK9	Translation_Start_Site	SNP	ENST00000370784.4	37		CCDS55501.1																																																																																				0.383	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819	Silent	39	35	0	0	0	1	0	39	35				
PRRC2C	23215	broad.mit.edu	37	1	171501630	171501630	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:171501630G>A	ENST00000338920.4	+	12	1634	c.1397G>A	c.(1396-1398)cGt>cAt	p.R466H	PRRC2C_ENST00000367742.3_Missense_Mutation_p.R468H|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R468H|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000426496.2_Missense_Mutation_p.R466H	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	466					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CGTAAACGGCGTGAAGAGGAA	0.458																																						ENST00000367742.3																			0											c.(1402-1404)cGt>cAt		proline-rich coiled-coil 2C							75.0	67.0	70.0					1																	171501630		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171501630G>A	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.1397G>A	1.37:g.171501630G>A	ENSP00000343629:p.Arg466His					PRRC2C_ENST00000338920.4_Missense_Mutation_p.R466H|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R468H|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000426496.2_Missense_Mutation_p.R466H	p.R468H			Q9Y520	PRC2C_HUMAN			12	1645	+			466		E -> G (in dbSNP:rs704839).	Glu-rich.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.1403G>A	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609238	0.66558	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	6.02	6.02	0.97574	.	0.000000	0.44902	D	0.000406	T	0.39682	0.1087	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.15694	-1.0428	10	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	466;468	Q9Y520-4;E7EPN9	.;.	H	468;466;466;468;466;222;224	ENSP00000375928:R468H;ENSP00000410219:R466H;ENSP00000356716:R468H;ENSP00000343629:R466H	ENSP00000343629:R466H	R	+	2	0	PRRC2C	169768254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.244000	0.95423	2.857000	0.98124	0.650000	0.86243	CGT		0.458	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		5	16	0	0	0	1	0	5	16				
F13A1	2162	broad.mit.edu	37	6	6266931	6266931	+	Missense_Mutation	SNP	C	C	T	rs142954620		TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr6:6266931C>T	ENST00000264870.3	-	4	696	c.431G>A	c.(430-432)cGg>cAg	p.R144Q		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	144					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R144Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GATGGACAGCCGCACAGACCT	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17742	0.0		0.0	False		,,,				2504	0.0					ENST00000264870.3																			1	Substitution - Missense(1)	p.R144Q(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(430-432)cGg>cAg		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						131.0	120.0	124.0					6																	6266931		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6266931C>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.431G>A	6.37:g.6266931C>T	ENSP00000264870:p.Arg144Gln						p.R144Q	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			4	696	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	144					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.431G>A	CCDS4496.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.23	3.787880	0.70337	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.84660	-1.88	5.65	4.79	0.61399	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.158566	0.48767	N	0.000174	T	0.80768	0.4686	L	0.47190	1.495	0.37891	D	0.930707	D;D	0.65815	0.992;0.995	P;P	0.54965	0.759;0.765	T	0.78922	-0.2013	10	0.22109	T	0.4	.	13.3447	0.60566	0.0:0.9249:0.0:0.0751	.	81;144	F5H080;P00488	.;F13A_HUMAN	Q	144;81	ENSP00000264870:R144Q	ENSP00000264870:R144Q	R	-	2	0	F13A1	6211930	0.412000	0.25392	0.996000	0.52242	0.610000	0.37248	0.950000	0.29122	1.389000	0.46526	0.655000	0.94253	CGG		0.512	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		15	50	0	0	0	1	0	15	50				
DSC2	1824	broad.mit.edu	37	18	28672206	28672206	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr18:28672206A>C	ENST00000280904.6	-	3	655	c.212T>G	c.(211-213)tTc>tGc	p.F71C	DSC2_ENST00000251081.6_Missense_Mutation_p.F71C	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	71					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CAAAATTTGGAAGTCAGGATC	0.338																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(211-213)tTc>tGc		desmocollin 2							68.0	67.0	67.0					18																	28672206		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28672206A>C	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.212T>G	18.37:g.28672206A>C	ENSP00000280904:p.Phe71Cys					DSC2_ENST00000251081.6_Missense_Mutation_p.F71C	p.F71C	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		3	655	-			71						Missense_Mutation	SNP	ENST00000280904.6	37	c.212T>G	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708817	0.68615	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	D;D	0.83673	-1.75;-1.75	5.1	5.1	0.69264	Cadherin prodomain-like (1);Cadherin-like (1);	0.000000	0.33875	N	0.004472	D	0.90903	0.7141	M	0.81802	2.56	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92181	0.5751	10	0.87932	D	0	.	14.1597	0.65438	1.0:0.0:0.0:0.0	.	71;71	Q02487;Q02487-2	DSC2_HUMAN;.	C	71	ENSP00000251081:F71C;ENSP00000280904:F71C	ENSP00000251081:F71C	F	-	2	0	DSC2	26926204	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.902000	0.69869	2.062000	0.61559	0.374000	0.22700	TTC		0.338	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		5	46	0	0	0	1	0	5	46				
TBC1D3	729873	broad.mit.edu	37	17	36352433	36352433	+	5'UTR	SNP	T	T	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr17:36352433T>A	ENST00000537432.1	-	0	415				RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.I452F|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.I297F			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTATCCCCAATGTAGTCATGC	0.358																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.(1354-1356)Att>Ttt																																						SO:0001623	5_prime_UTR_variant	0							g.chr17:36352433T>A		CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487	ENST00000537432.1:c.-74A>T	17.37:g.36352433T>A						RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.I297F|TBC1D3_ENST00000537432.1_5'UTR	p.I452F							11	1353	-								A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Missense_Mutation	SNP	ENST00000537432.1	37	c.1354A>T	CCDS45658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.82|13.82	2.352127|2.352127	0.41700|0.41700	.|.	.|.	ENSG00000174093|ENSG00000174093	ENST00000523089|ENST00000544906;ENST00000520237;ENST00000312412;ENST00000518004	.|T;T;T;T	.|0.05786	.|3.39;3.39;3.39;3.39	2.62|2.62	2.62|2.62	0.31277|0.31277	.|.	.|.	.|.	.|.	.|.	T|T	0.14442|0.14442	0.0349|0.0349	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.01413|0.01413	-1.1361|-1.1361	4|6	.|0.59425	.|D	.|0.04	.|.	10.5928|10.5928	0.45318|0.45318	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	L|F	407|297;452;452;448	.|ENSP00000444117:I297F;ENSP00000428261:I452F;ENSP00000308540:I452F;ENSP00000428330:I448F	.|ENSP00000308540:I452F	H|I	-|-	2|1	0|0	RP11-1407O15.2|RP11-1407O15.2	33606232|33606232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.810000|0.810000	0.45777|0.45777	7.653000|7.653000	0.83643|0.83643	1.196000|1.196000	0.43129|0.43129	0.163000|0.163000	0.16589|0.16589	CAT|ATT		0.358	TBC1D3-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001123391		4	24	0	0	0	1	0	4	24				
ATP2A1	487	broad.mit.edu	37	16	28909395	28909395	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr16:28909395C>A	ENST00000357084.3	+	13	1761	c.1494C>A	c.(1492-1494)tgC>tgA	p.C498*	ATP2A1_ENST00000536376.1_Nonsense_Mutation_p.C373*|ATP2A1_ENST00000395503.4_Nonsense_Mutation_p.C498*	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	498					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTGTCTATTGCTCCCCAGCCA	0.542																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(1492-1494)tgC>tgA		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							92.0	94.0	93.0					16																	28909395		2197	4300	6497	SO:0001587	stop_gained	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28909395C>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1494C>A	16.37:g.28909395C>A	ENSP00000349595:p.Cys498*					ATP2A1_ENST00000536376.1_Nonsense_Mutation_p.C373*|ATP2A1_ENST00000357084.3_Nonsense_Mutation_p.C498*	p.C498*	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			13	1678	+			498					A8K5J9|B3KY17|O14984	Nonsense_Mutation	SNP	ENST00000357084.3	37	c.1494C>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	37	5.981141	0.97168	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	.	.	.	5.35	-2.02	0.07388	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3988	0.44218	0.0:0.5326:0.0:0.4674	.	.	.	.	X	498;498;535;373	.	ENSP00000349595:C498X	C	+	3	2	ATP2A1	28816896	1.000000	0.71417	0.908000	0.35775	0.976000	0.68499	2.155000	0.42301	-0.340000	0.08388	-0.982000	0.02568	TGC		0.542	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		37	74	1	0	3.93418e-24	1	4.31989e-24	37	74				
SRP72	6731	broad.mit.edu	37	4	57350934	57350934	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr4:57350934A>T	ENST00000342756.5	+	10	1711	c.990A>T	c.(988-990)ttA>ttT	p.L330F	SRP72_ENST00000510663.1_Missense_Mutation_p.L269F	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	330					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CTGCCAGTTTACAGTCCCAAA	0.428																																						ENST00000342756.5																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22						c.(988-990)ttA>ttT		signal recognition particle 72kDa							126.0	118.0	121.0					4																	57350934		2203	4300	6503	SO:0001583	missense	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57350934A>T	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.990A>T	4.37:g.57350934A>T	ENSP00000342181:p.Leu330Phe					SRP72_ENST00000510663.1_Missense_Mutation_p.L269F	p.L330F	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN			10	1711	+	Glioma(25;0.08)|all_neural(26;0.101)		330					G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	c.990A>T	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.289483	0.40494	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	T;T	0.80033	-1.33;1.11	5.62	0.552	0.17230	.	0.069697	0.56097	D	0.000022	T	0.80999	0.4732	M	0.72894	2.215	0.58432	D	0.999996	B;B;P	0.51240	0.038;0.049;0.943	B;B;P	0.54312	0.036;0.05;0.748	T	0.75227	-0.3392	10	0.41790	T	0.15	.	4.1332	0.10159	0.5031:0.0:0.3419:0.155	.	269;330;330	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	F	330;275;269;91	ENSP00000342181:L330F;ENSP00000424576:L269F	ENSP00000342181:L330F	L	+	3	2	SRP72	57045691	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	0.313000	0.19415	0.088000	0.17205	-0.290000	0.09829	TTA		0.428	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			36	76	0	0	0	1	0	36	76				
TMC7	79905	broad.mit.edu	37	16	19056299	19056299	+	Silent	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr16:19056299C>T	ENST00000304381.5	+	10	1561	c.1431C>T	c.(1429-1431)tgC>tgT	p.C477C	TMC7_ENST00000569532.1_Silent_p.C477C|TMC7_ENST00000421369.3_Silent_p.C367C	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	477					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GTGACCTTTGCGGCTACAACC	0.562																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(1099-1101)tgC>tgT		transmembrane channel-like 7							117.0	113.0	115.0					16																	19056299		2197	4300	6497	SO:0001819	synonymous_variant	79905					integral to membrane		g.chr16:19056299C>T	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1431C>T	16.37:g.19056299C>T						TMC7_ENST00000304381.5_Silent_p.C477C|TMC7_ENST00000569532.1_Silent_p.C477C	p.C367C	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			10	1659	+			477					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	c.1101C>T	CCDS10573.1																																																																																				0.562	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		4	126	0	0	0	1	0	4	126				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	114	0	0	0	1	0	5	114				
UNC5A	90249	broad.mit.edu	37	5	176304658	176304658	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr5:176304658G>T	ENST00000329542.4	+	10	1863	c.1589G>T	c.(1588-1590)aGc>aTc	p.S530I	UNC5A_ENST00000261961.3_Missense_Mutation_p.S490I	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	530	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCCTGACAGCTGGAGCCTG	0.647																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1588-1590)aGc>aTc		unc-5 homolog A (C. elegans)							36.0	34.0	35.0					5																	176304658		2203	4298	6501	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176304658G>T	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1589G>T	5.37:g.176304658G>T	ENSP00000332737:p.Ser530Ile					UNC5A_ENST00000261961.3_Missense_Mutation_p.S490I	p.S530I	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1863	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	530			ZU5.		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.1589G>T	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428869	0.43122	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.46451	0.87;0.87	5.22	3.16	0.36331	ZU5 (3);	0.153069	0.56097	D	0.000021	T	0.24851	0.0603	N	0.19112	0.55	0.38254	D	0.941688	P	0.34699	0.464	B	0.35073	0.195	T	0.15925	-1.0420	10	0.87932	D	0	-34.9761	4.5003	0.11860	0.335:0.1721:0.4929:0.0	.	530	Q6ZN44	UNC5A_HUMAN	I	530;490	ENSP00000332737:S530I;ENSP00000261961:S490I	ENSP00000261961:S490I	S	+	2	0	UNC5A	176237264	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.349000	0.73013	1.211000	0.43351	0.305000	0.20034	AGC		0.647	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		10	25	1	0	1.11149e-13	1	1.19699e-13	10	25				
FRG1B	284802	broad.mit.edu	37	20	29633899	29633899	+	Splice_Site	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr20:29633899G>A	ENST00000278882.3	+	9	918	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	FRG1B_ENST00000358464.4_Splice_Site_p.E180K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTAAACAAGAGAACCAAATTG	0.269																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e9-1																																						SO:0001630	splice_region_variant	284802							g.chr20:29633899G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.537-1G>A	20.37:g.29633899G>A						FRG1B_ENST00000358464.4_Splice_Site_p.E180_splice	p.E180_splice							9	918	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37	c.536_splice		.	.	.	.	.	.	.	.	.	.	g	9.008	0.981734	0.18812	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.44008	0.1273	.	.	.	0.23758	N	0.996927	.	.	.	.	.	.	T	0.39231	-0.9624	5	0.72032	D	0.01	.	9.2539	0.37571	0.0:0.0:1.0:0.0	.	.	.	.	K	180	.	ENSP00000278882:E180K	E	+	1	0	FRG1B	28247560	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	7.782000	0.85680	1.206000	0.43276	0.502000	0.49764	GAA		0.269	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Missense_Mutation	6	72	0	0	0	1	0	6	72				
FAM129A	116496	broad.mit.edu	37	1	184764710	184764710	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:184764710T>G	ENST00000367511.3	-	14	2381	c.2188A>C	c.(2188-2190)Atg>Ctg	p.M730L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	730	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCTTCTTCCATCACTGGAGCA	0.542																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(2188-2190)Atg>Ctg		family with sequence similarity 129, member A							109.0	112.0	111.0					1																	184764710		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764710T>G	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2188A>C	1.37:g.184764710T>G	ENSP00000356481:p.Met730Leu					FAM129A_ENST00000487074.1_5'UTR	p.M730L	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			14	2381	-			730			Glu-rich.		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.2188A>C	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	T	8.971	0.972886	0.18736	.	.	ENSG00000135842	ENST00000367511	T	0.08807	3.05	5.44	-1.3	0.09259	.	4.094370	0.00616	N	0.000432	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37126	-0.9719	10	0.27785	T	0.31	0.53	7.2189	0.25975	0.0:0.3893:0.1292:0.4814	.	730	Q9BZQ8	NIBAN_HUMAN	L	730	ENSP00000356481:M730L	ENSP00000356481:M730L	M	-	1	0	FAM129A	183031333	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.071000	0.11505	-0.198000	0.10333	0.402000	0.26972	ATG		0.542	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			28	88	0	0	0	1	0	28	88				
ZZEF1	23140	broad.mit.edu	37	17	3990757	3990757	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr17:3990757G>C	ENST00000381638.2	-	14	2437	c.2313C>G	c.(2311-2313)ttC>ttG	p.F771L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	771							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AAAAATTCCAGAAGATCTGCA	0.308																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(2311-2313)ttC>ttG		zinc finger, ZZ-type with EF-hand domain 1							62.0	67.0	65.0					17																	3990757		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3990757G>C	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2313C>G	17.37:g.3990757G>C	ENSP00000371051:p.Phe771Leu					ZZEF1_ENST00000574474.1_5'UTR	p.F771L	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			14	2437	-			771					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.2313C>G	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629109	0.46944	.	.	ENSG00000074755	ENST00000381638	T	0.19532	2.14	6.06	6.06	0.98353	.	0.046255	0.85682	D	0.000000	T	0.12860	0.0312	N	0.12746	0.255	0.43583	D	0.995927	B;B	0.16802	0.015;0.019	B;B	0.16289	0.011;0.015	T	0.15464	-1.0436	10	0.27082	T	0.32	-20.6388	13.4323	0.61062	0.0719:0.0:0.9281:0.0	.	771;771	O43149-3;O43149	.;ZZEF1_HUMAN	L	771	ENSP00000371051:F771L	ENSP00000371051:F771L	F	-	3	2	ZZEF1	3937506	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.299000	0.51826	2.882000	0.98803	0.655000	0.94253	TTC		0.308	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		15	42	0	0	0	1	0	15	42				
PHTF2	57157	broad.mit.edu	37	7	77469597	77469597	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr7:77469597A>G	ENST00000248550.7	+	1	101	c.25A>G	c.(25-27)Ata>Gta	p.I9V	PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V|PHTF2_ENST00000416283.2_Missense_Mutation_p.I9V|PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V|PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000307305.8_Missense_Mutation_p.I9V|PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I9V(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CACAGATGCTATAGTCTGGTA	0.318																																						ENST00000416283.2																			2	Substitution - Missense(2)	p.I9V(2)	prostate(2)	endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(25-27)Ata>Gta		putative homeodomain transcription factor 2							137.0	130.0	132.0					7																	77469597		1844	4093	5937	SO:0001583	missense	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77469597A>G	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.25A>G	7.37:g.77469597A>G	ENSP00000248550:p.Ile9Val					PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V|PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V|PHTF2_ENST00000307305.8_Missense_Mutation_p.I9V|PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V|PHTF2_ENST00000248550.7_Missense_Mutation_p.I9V	p.I9V	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			1	151	+			9					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37	c.25A>G		.	.	.	.	.	.	.	.	.	.	A	9.159	1.018293	0.19355	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000415251;ENST00000275575;ENST00000450574;ENST00000416283;ENST00000248550	.	.	.	5.69	4.55	0.56014	.	0.195634	0.44688	D	0.000422	T	0.38026	0.1025	N	0.08118	0	0.38251	D	0.941606	B;B;B;B;B;B;B	0.17465	0.0;0.0;0.022;0.002;0.0;0.0;0.019	B;B;B;B;B;B;B	0.20384	0.0;0.001;0.029;0.002;0.0;0.013;0.016	T	0.33033	-0.9884	9	0.87932	D	0	-1.0009	11.2795	0.49186	0.9281:0.0:0.0719:0.0	.	9;9;9;9;9;9;9	Q8N3S3-4;Q8N3S3-2;Q8N3S3;G5E9H7;Q8N3S3-3;B3KQZ2;E9PEE3	.;.;PHTF2_HUMAN;.;.;.;.	V	9	.	ENSP00000248550:I9V	I	+	1	0	PHTF2	77307533	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.550000	0.67268	0.997000	0.38969	0.533000	0.62120	ATA		0.318	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		9	34	0	0	0	1	0	9	34				
TTC31	64427	broad.mit.edu	37	2	74718668	74718668	+	Missense_Mutation	SNP	C	C	A	rs199633834		TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr2:74718668C>A	ENST00000233623.5	+	8	752	c.745C>A	c.(745-747)Ccc>Acc	p.P249T	TTC31_ENST00000410003.1_Missense_Mutation_p.P249T|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_Missense_Mutation_p.P105T	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	249										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TGGGGATTGGCCCCTCAGTGC	0.562																																						ENST00000410003.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(745-747)Ccc>Acc		tetratricopeptide repeat domain 31							209.0	202.0	204.0					2																	74718668		1908	4120	6028	SO:0001583	missense	64427						binding	g.chr2:74718668C>A	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.745C>A	2.37:g.74718668C>A	ENSP00000233623:p.Pro249Thr					TTC31_ENST00000233623.5_Missense_Mutation_p.P249T|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_Missense_Mutation_p.P105T	p.P249T			Q49AM3	TTC31_HUMAN			8	754	+			249					Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	c.745C>A	CCDS42701.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.272142	0.40194	.	.	ENSG00000115282	ENST00000545977;ENST00000410003;ENST00000441635;ENST00000442235;ENST00000233623	T;T;T	0.64260	1.07;0.01;-0.09	4.31	2.47	0.30058	.	0.427722	0.18017	N	0.154347	T	0.47340	0.1440	L	0.29908	0.895	0.22787	N	0.998739	P;P;P;P	0.37781	0.573;0.608;0.608;0.573	B;B;B;B	0.39217	0.294;0.104;0.154;0.217	T	0.40021	-0.9585	10	0.66056	D	0.02	.	5.931	0.19138	0.0:0.6995:0.1943:0.1062	.	105;219;249;178	B4DZV1;Q86XF2;Q49AM3;F5H175	.;.;TTC31_HUMAN;.	T	178;249;249;105;249	ENSP00000387213:P249T;ENSP00000416823:P105T;ENSP00000233623:P249T	ENSP00000233623:P249T	P	+	1	0	TTC31	74572176	0.314000	0.24563	0.375000	0.26029	0.329000	0.28539	1.210000	0.32370	0.554000	0.29061	0.561000	0.74099	CCC		0.562	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492		5	197	1	0	1.23904e-05	1	1.30917e-05	5	197				
RRBP1	6238	broad.mit.edu	37	20	17614233	17614233	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr20:17614233G>A	ENST00000377813.1	-	8	2785	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	RRBP1_ENST00000377807.2_Missense_Mutation_p.R395W|RRBP1_ENST00000246043.4_Missense_Mutation_p.R828W|RRBP1_ENST00000360807.4_Missense_Mutation_p.R395W|RRBP1_ENST00000455029.2_Missense_Mutation_p.R169W			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	828					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						AGCTCCTGCCGAAGCTTGGCC	0.592																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(2482-2484)Cgg>Tgg		ribosome binding protein 1							71.0	58.0	63.0					20																	17614233		2203	4300	6503	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17614233G>A	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2482C>T	20.37:g.17614233G>A	ENSP00000367044:p.Arg828Trp					RRBP1_ENST00000246043.4_Missense_Mutation_p.R828W|RRBP1_ENST00000360807.4_Missense_Mutation_p.R395W|RRBP1_ENST00000455029.2_Missense_Mutation_p.R169W|RRBP1_ENST00000377807.2_Missense_Mutation_p.R395W	p.R828W			Q9P2E9	RRBP1_HUMAN			8	2785	-			828					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.2482C>T		.	.	.	.	.	.	.	.	.	.	G	20.1	3.937067	0.73557	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.45	4.45	0.53987	.	0.000000	0.33477	N	0.004877	T	0.50803	0.1637	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53528	-0.8426	10	0.72032	D	0.01	-45.066	14.8911	0.70609	0.0:0.0:0.7779:0.2221	.	395	Q9P2E9-3	.	W	395;828;395;828;169	ENSP00000354045:R395W;ENSP00000367044:R828W;ENSP00000367038:R395W;ENSP00000246043:R828W;ENSP00000401206:R169W	ENSP00000246043:R828W	R	-	1	2	RRBP1	17562233	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	4.637000	0.61346	2.714000	0.92807	0.561000	0.74099	CGG		0.592	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		10	30	0	0	0	1	0	10	30				
RPS27A	6233	broad.mit.edu	37	2	55460001	55460001	+	Missense_Mutation	SNP	C	C	T	rs575180825		TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr2:55460001C>T	ENST00000272317.6	+	2	365	c.41C>T	c.(40-42)aCc>aTc	p.T14I	CLHC1_ENST00000407122.1_5'Flank|RPS27A_ENST00000404735.1_Missense_Mutation_p.T14I|CLHC1_ENST00000401408.1_5'Flank|CLHC1_ENST00000406437.2_5'Flank|RPS27A_ENST00000402285.3_Missense_Mutation_p.T14I|CLHC1_ENST00000406076.1_5'Flank|CLHC1_ENST00000494539.1_5'Flank	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	14	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|small ribosomal subunit (GO:0015935)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|ovary(1)|urinary_tract(1)	3						AAGACCATCACCCTCGAGGTA	0.537																																						ENST00000272317.6																			0				cervix(1)|ovary(1)|urinary_tract(1)	3						c.(40-42)aCc>aTc		ribosomal protein S27a							26.0	28.0	27.0					2																	55460001		2203	4300	6503	SO:0001583	missense	6233				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome	g.chr2:55460001C>T	AB007163	CCDS33202.1	2p16	2011-04-06			ENSG00000143947	ENSG00000143947		"""S ribosomal proteins"""	10417	protein-coding gene	gene with protein product	"""ubiquitin carboxyl extension protein 80"""	191343				9582194	Standard	NM_001135592		Approved	UBCEP80, Uba80, S27A	uc010yow.2	P62979	OTTHUMG00000151919	ENST00000272317.6:c.41C>T	2.37:g.55460001C>T	ENSP00000272317:p.Thr14Ile					RPS27A_ENST00000402285.3_Missense_Mutation_p.T14I|RPS27A_ENST00000404735.1_Missense_Mutation_p.T14I	p.T14I	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN			2	365	+			14			Ubiquitin-like.		P02248|P02249|P02250|P14798|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BQ77|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000272317.6	37	c.41C>T	CCDS33202.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980442	0.74474	.	.	ENSG00000143947	ENST00000402285;ENST00000272317;ENST00000449323;ENST00000404735	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.54	5.54	0.83059	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.73674	0.3617	M	0.62016	1.91	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.70178	-0.4943	10	0.56958	D	0.05	.	17.6569	0.88180	0.0:1.0:0.0:0.0	.	14	P62979	RS27A_HUMAN	I	14	ENSP00000383981:T14I;ENSP00000272317:T14I;ENSP00000408482:T14I;ENSP00000385659:T14I	ENSP00000272317:T14I	T	+	2	0	RPS27A	55313505	1.000000	0.71417	0.975000	0.42487	0.844000	0.47949	7.504000	0.81646	2.603000	0.88011	0.655000	0.94253	ACC		0.537	RPS27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324423.15			4	8	0	0	0	1	0	4	8				
MRGPRX3	117195	broad.mit.edu	37	11	18159635	18159635	+	Nonsense_Mutation	SNP	C	C	T	rs202132063		TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr11:18159635C>T	ENST00000396275.2	+	3	1247	c.886C>T	c.(886-888)Cag>Tag	p.Q296*		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GAGGGCTCTGCAGGACACGCC	0.552																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(886-888)Cag>Tag		MAS-related GPR, member X3							44.0	48.0	47.0					11																	18159635		2200	4291	6491	SO:0001587	stop_gained	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159635C>T		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.886C>T	11.37:g.18159635C>T	ENSP00000379571:p.Gln296*						p.Q296*	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	1247	+			296					B0M0L1|Q8TDE0|Q8TDE1	Nonsense_Mutation	SNP	ENST00000396275.2	37	c.886C>T	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538623	0.85917	.	.	ENSG00000179826	ENST00000396275	.	.	.	1.3	1.3	0.21679	.	0.637827	0.14512	N	0.315051	.	.	.	.	.	.	0.39786	D	0.972377	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	5.9358	0.19165	0.0:1.0:0.0:0.0	.	.	.	.	X	296	.	ENSP00000379571:Q296X	Q	+	1	0	MRGPRX3	18116211	0.324000	0.24652	0.788000	0.31933	0.076000	0.17211	0.194000	0.17135	1.011000	0.39340	0.195000	0.17529	CAG		0.552	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		22	46	0	0	0	1	0	22	46				
RABEPK	10244	broad.mit.edu	37	9	127975673	127975673	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr9:127975673C>T	ENST00000373538.3	+	4	546	c.236C>T	c.(235-237)aCc>aTc	p.T79I	RABEPK_ENST00000394125.4_Missense_Mutation_p.T79I|RABEPK_ENST00000394124.4_Missense_Mutation_p.T79I|RABEPK_ENST00000259460.8_Intron|RABEPK_ENST00000373544.1_Missense_Mutation_p.T79I	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	79					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						GACTTAGATACCTGCAAGGGC	0.488																																						ENST00000373544.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(235-237)aCc>aTc		Rab9 effector protein with kelch motifs							128.0	120.0	122.0					9																	127975673		2203	4300	6503	SO:0001583	missense	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127975673C>T	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.236C>T	9.37:g.127975673C>T	ENSP00000362639:p.Thr79Ile					RABEPK_ENST00000373538.3_Missense_Mutation_p.T79I|RABEPK_ENST00000259460.8_Intron|RABEPK_ENST00000394125.4_Missense_Mutation_p.T79I|RABEPK_ENST00000394124.4_Missense_Mutation_p.T79I	p.T79I			Q7Z6M1	RABEK_HUMAN			5	402	+			79					A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	c.236C>T	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527027	0.27299	.	.	ENSG00000136933	ENST00000394125;ENST00000373544;ENST00000394124;ENST00000373538;ENST00000416065	T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08	5.47	2.27	0.28462	Galactose oxidase, beta-propeller (1);	0.416266	0.25467	N	0.030478	T	0.20251	0.0487	L	0.36672	1.1	0.09310	N	1	P;P	0.39920	0.655;0.695	P;P	0.46629	0.522;0.473	T	0.05273	-1.0895	10	0.38643	T	0.18	-5.5451	8.0162	0.30383	0.3105:0.5461:0.1433:0.0	.	79;79	Q7Z6M1;Q5T1S4	RABEK_HUMAN;.	I	79;79;79;79;162	ENSP00000377683:T79I;ENSP00000362645:T79I;ENSP00000377682:T79I;ENSP00000362639:T79I;ENSP00000402234:T162I	ENSP00000362639:T79I	T	+	2	0	RABEPK	127015494	0.021000	0.18746	0.264000	0.24511	0.626000	0.37791	1.796000	0.38794	1.290000	0.44636	0.591000	0.81541	ACC		0.488	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		6	85	0	0	0	1	0	6	85				
NEK4	6787	broad.mit.edu	37	3	52773447	52773447	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr3:52773447G>A	ENST00000233027.5	-	14	2499	c.2297C>T	c.(2296-2298)tCa>tTa	p.S766L	NEK4_ENST00000535191.1_Missense_Mutation_p.S677L|NEK4_ENST00000383721.4_Missense_Mutation_p.S720L	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	766					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CTGATCACCTGAAGGTAGCTC	0.428																																						ENST00000233027.5																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26						c.(2296-2298)tCa>tTa		NIMA-related kinase 4							141.0	140.0	140.0					3																	52773447		2203	4300	6503	SO:0001583	missense	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52773447G>A	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.2297C>T	3.37:g.52773447G>A	ENSP00000233027:p.Ser766Leu					NEK4_ENST00000383721.4_Missense_Mutation_p.S720L|NEK4_ENST00000535191.1_Missense_Mutation_p.S677L	p.S766L	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	14	2499	-			766					A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	c.2297C>T	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357906	0.41801	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.73363	-0.66;-0.74;-0.62;-0.67	5.63	3.72	0.42706	.	0.898237	0.09563	N	0.785333	T	0.65995	0.2745	L	0.41710	1.295	0.28902	N	0.893198	B;B;B	0.17852	0.005;0.019;0.024	B;B;B	0.15870	0.006;0.014;0.013	T	0.57277	-0.7839	10	0.44086	T	0.13	.	8.8965	0.35467	0.1879:0.0:0.8121:0.0	.	677;720;766	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	L	766;677;720;677	ENSP00000233027:S766L;ENSP00000437703:S677L;ENSP00000373227:S720L;ENSP00000419666:S677L	ENSP00000233027:S766L	S	-	2	0	NEK4	52748487	1.000000	0.71417	0.817000	0.32601	0.988000	0.76386	2.935000	0.48963	0.646000	0.30693	0.650000	0.86243	TCA		0.428	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		34	41	0	0	0	1	0	34	41				
NSUN6	221078	broad.mit.edu	37	10	18840857	18840857	+	Silent	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr10:18840857C>T	ENST00000377304.4	-	9	1384	c.966G>A	c.(964-966)ctG>ctA	p.L322L	NSUN6_ENST00000493816.1_5'Flank	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	322							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AGGGTGCATCCAGAAGAATTC	0.398																																						ENST00000377304.4																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(964-966)ctG>ctA		NOP2/Sun domain family, member 6							123.0	105.0	111.0					10																	18840857		2203	4300	6503	SO:0001819	synonymous_variant	221078						methyltransferase activity|RNA binding	g.chr10:18840857C>T	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.966G>A	10.37:g.18840857C>T							p.L322L	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN			9	1384	-			322					B0YJ54	Silent	SNP	ENST00000377304.4	37	c.966G>A	CCDS7130.1																																																																																				0.398	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		4	48	0	0	0	1	0	4	48				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473333	22473333	+	RNA	SNP	A	A	G	rs188158697		TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr15:22473333A>G	ENST00000557788.2	-	0	20							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											CCAGGAGGAGAAAGAACCACA	0.512																																						ENST00000557788.2																			0																																																			28317							g.chr15:22473333A>G	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473333A>G														0	20	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.512	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			5	66	0	0	0	1	0	5	66				
TUB	7275	broad.mit.edu	37	11	8111173	8111173	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr11:8111173G>A	ENST00000299506.2	+	2	204	c.55G>A	c.(55-57)Ggc>Agc	p.G19S	TUB_ENST00000534099.1_Missense_Mutation_p.G25S|TUB_ENST00000305253.4_Missense_Mutation_p.G74S	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	19					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGATGATGAGGGCAGAAACCT	0.602																																						ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(220-222)Ggc>Agc		tubby bipartite transcription factor							94.0	94.0	94.0					11																	8111173		2201	4296	6497	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8111173G>A	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.55G>A	11.37:g.8111173G>A	ENSP00000299506:p.Gly19Ser					TUB_ENST00000299506.2_Missense_Mutation_p.G19S|TUB_ENST00000534099.1_Missense_Mutation_p.G25S	p.G74S	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	3	461	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	19					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.220G>A	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	6.061	0.379574	0.11466	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.84800	-1.86;-1.9;-1.87	4.9	3.97	0.46021	Tubby, N-terminal (1);	0.229124	0.44688	D	0.000436	T	0.62792	0.2457	N	0.05124	-0.11	0.53005	D	0.99996	B;B;B	0.18166	0.015;0.015;0.026	B;B;B	0.24006	0.012;0.012;0.05	T	0.59198	-0.7499	10	0.02654	T	1	-13.8995	5.921	0.19082	0.2636:0.0:0.7364:0.0	.	25;19;74	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	S	25;74;19	ENSP00000434400:G25S;ENSP00000305426:G74S;ENSP00000299506:G19S	ENSP00000299506:G19S	G	+	1	0	TUB	8067749	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.842000	0.39250	2.408000	0.81797	0.563000	0.77884	GGC		0.602	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		15	48	0	0	0	1	0	15	48				
IPPK	64768	broad.mit.edu	37	9	95418813	95418813	+	Silent	SNP	T	T	C	rs145725375		TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr9:95418813T>C	ENST00000287996.3	-	3	426	c.150A>G	c.(148-150)caA>caG	p.Q50Q		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	50					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						TCTGCAGGTGTTGAAATATCT	0.458																																						ENST00000287996.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						c.(148-150)caA>caG		inositol 1,3,4,5,6-pentakisphosphate 2-kinase							129.0	124.0	126.0					9																	95418813		2203	4300	6503	SO:0001819	synonymous_variant	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95418813T>C	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.150A>G	9.37:g.95418813T>C							p.Q50Q	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN			3	426	-			50					Q5T9F7|Q9H7V8	Silent	SNP	ENST00000287996.3	37	c.150A>G	CCDS6699.1																																																																																				0.458	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		32	63	0	0	0	1	0	32	63				
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	lincRNA	INS	-	-	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317																																						ENST00000412204.2																			0																																																			0							g.chr1:143210193_143210194insT																													1.37:g.143210200_143210200dupT						RP11-782C8.1_ENST00000438000.1_lincRNA								0	876_877	-									RNA	INS	ENST00000412204.2	37																																																																																						0.317	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			7	118						7	118	---	---	---	---
PNO1	56902	broad.mit.edu	37	2	68400518	68400518	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr2:68400518delG	ENST00000263657.2	+	6	751	c.660delG	c.(658-660)atgfs	p.M220fs	RP11-474G23.1_ENST00000406334.3_Intron	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	220	KH.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						ATATCAAGATGGCAAGAACTG	0.403																																					NSCLC(83;642 1410 13044 32832 40058)	ENST00000263657.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(658-660)atfs		partner of NOB1 homolog (S. cerevisiae)							150.0	151.0	150.0					2																	68400518		2203	4300	6503	SO:0001589	frameshift_variant	56902					nucleolus	RNA binding	g.chr2:68400518delG	AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"""RNA binding protein"""		"""KH-type RNA binding protein 1"", ""KH-type RNA-binding protein 1"""	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.660delG	2.37:g.68400518delG	ENSP00000263657:p.Met220fs						p.M220fs	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN			6	751	+			220			KH.		A8K6Q0|Q53G13|Q8WVB8	Frame_Shift_Del	DEL	ENST00000263657.2	37	c.660delG	CCDS1885.1																																																																																				0.403	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251756.1	NM_020143		33	62						33	62	---	---	---	---
TMEFF2	23671	broad.mit.edu	37	2	193059174	193059175	+	In_Frame_Ins	INS	-	-	GCAGCA			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr2:193059174_193059175insGCAGCA	ENST00000272771.5	-	1	1260_1261	c.76_77insTGCTGC	c.(76-78)ccc>cTGCTGCcc	p.25_26insLL	TMEFF2_ENST00000409056.3_In_Frame_Ins_p.25_26insLL|TMEFF2_ENST00000392314.1_In_Frame_Ins_p.25_26insLL	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	25						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TAGCATGACGGGCAGCAGCAGC	0.599																																					Pancreas(50;1277 1381 28487 47072)	ENST00000409056.3																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(76-78)cgt>TGCTGCcgt		transmembrane protein with EGF-like and two follistatin-like domains 2																																				SO:0001652	inframe_insertion	23671					extracellular region|integral to membrane		g.chr2:193059174_193059175insGCAGCA	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.71_76dupTGCTGC	2.37:g.193059175_193059180dupGCAGCA	ENSP00000272771:p.Leu24_Leu25dup					TMEFF2_ENST00000272771.5_In_Frame_Ins_p.25_26insCC|TMEFF2_ENST00000392314.1_In_Frame_Ins_p.25_26insCC	p.25_26insCC			Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		1	75_76	-			25					Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	In_Frame_Ins	INS	ENST00000272771.5	37	c.76_77insTGCTGC	CCDS2314.1																																																																																				0.599	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		10	30						10	30	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
ABCC6P1	653190	broad.mit.edu	37	16	18593648	18593649	+	RNA	INS	-	-	A	rs534869505	byFrequency	TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr16:18593648_18593649insA	ENST00000546162.2	+	0	805					NR_003569.1				ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional)																		accctgtctcgaaaaaaaaaaa	0.505																																						ENST00000546162.2																			0																																																			653190							g.chr16:18593648_18593649insA	BC075833		16p12.3	2014-09-11	2014-05-09		ENSG00000256340	ENSG00000256340		"""-"""	33352	pseudogene	pseudogene			"""ATP-binding cassette, sub-family C, member 6 pseudogene 1"""			18405356, 22873774	Standard	NR_003569		Approved		uc002dfg.3		OTTHUMG00000177192		16.37:g.18593659_18593659dupA								NR_003569.1						0	805	+									RNA	INS	ENST00000546162.2	37																																																																																						0.505	ABCC6P1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435772.2	NR_003569		2	4						2	4	---	---	---	---
LILRB4	11006	broad.mit.edu	37	19	55179244	55179244	+	Splice_Site	DEL	G	G	-	rs571881532|rs386810941	byFrequency	TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr19:55179244delG	ENST00000391736.1	+	13	1515	c.1200delG	c.(1198-1200)gag>ga	p.E400fs	LILRB4_ENST00000430952.2_Splice_Site_p.E399fs|LILRB4_ENST00000270452.2_Splice_Site_p.E400fs|LILRB4_ENST00000391733.3_Splice_Site_p.E401fs|LILRB4_ENST00000391734.3_Intron	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	400					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGGACACTGAGGTGAGTCCTT	0.617													?|GG|G|unsure	97	0.019369	0.0461	0.0144	5008	,	,		16664	0.002		0.0169	False		,,,				2504	0.0072					ENST00000391736.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.e13+1		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4			,	175,4085		12,151,1967	99.0	93.0	95.0		,	1.0	0.0	19		95	101,8151		5,91,4030	no	frameshift-near-splice,frameshift-near-splice	LILRB4	NM_006847.3,NM_001081438.1	,	17,242,5997	A1A1,A1R,RR		1.2239,4.108,2.2059	,	,	55179244	276,12236	2193	4296	6489	SO:0001630	splice_region_variant	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179244delG	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1200+1G>-	19.37:g.55179244delG						LILRB4_ENST00000391733.3_Splice_Site_p.E401_splice|LILRB4_ENST00000270452.2_Splice_Site_p.E400_splice|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000430952.2_Splice_Site_p.E399_splice	p.E400_splice	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	13	1515	+			400					A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Splice_Site	DEL	ENST00000391736.1	37	c.1200_splice	CCDS12902.1																																																																																				0.617	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3		Frame_Shift_Del	7	20						7	20	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10944697	10944697	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr21:10944697delA	ENST00000361285.4	-	11	866	c.537delT	c.(535-537)tttfs	p.F179fs	TPTE_ENST00000298232.7_Frame_Shift_Del_p.F161fs|TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	179					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTTAATGTCAAAAAAAATGT	0.299																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(481-483)ttfs		transmembrane phosphatase with tensin homology							157.0	168.0	164.0					21																	10944697		2203	4300	6503	SO:0001589	frameshift_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10944697delA	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.537delT	21.37:g.10944697delA	ENSP00000355208:p.Phe179fs					TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs|TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs	p.F161fs	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	10	850	-			179					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Frame_Shift_Del	DEL	ENST00000361285.4	37	c.483delT	CCDS13560.2																																																																																				0.299	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			12	227						12	227	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76939263	76939263	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chrX:76939263delT	ENST00000373344.5	-	9	1699	c.1485delA	c.(1483-1485)aaafs	p.K495fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K457fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	495					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCTATCAGATTTCTTATGTT	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1483-1485)aafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						184.0	188.0	186.0					X																	76939263		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939263delT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1485delA	X.37:g.76939263delT	ENSP00000362441:p.Lys495fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K457fs	p.K495fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1699	-			495					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1485delA	CCDS14434.1																																																																																				0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		114	172						114	172	---	---	---	---
