#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
SERPINA9	327657	broad.mit.edu	37	14	94942635	94942635	+	5'Flank	SNP	T	T	C	rs78913733	byFrequency	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr14:94942635T>C	ENST00000380365.3	-	0	0				SERPINA9_ENST00000539349.1_Intron|SERPINA9_ENST00000546329.1_De_novo_Start_OutOfFrame|SERPINA9_ENST00000448305.2_5'Flank|SERPINA9_ENST00000424550.2_5'Flank|SERPINA9_ENST00000337425.5_5'Flank|SERPINA9_ENST00000298845.7_5'Flank			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		gcaaatgatatattattttta	0.383													T|||	583	0.116414	0.0287	0.0548	5008	,	,		22052	0.3065		0.0258	False		,,,				2504	0.1759					ENST00000546329.1																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21								serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9																																				SO:0001631	upstream_gene_variant	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94942635T>C	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710		14.37:g.94942635T>C	Exception_encountered					SERPINA9_ENST00000539349.1_Intron				Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	0	35	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)						B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Translation_Start_Site	SNP	ENST00000380365.3	37																																																																																						0.383	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		4	44	0	0	0	1	0	4	44				
AIDA	64853	broad.mit.edu	37	1	222885629	222885629	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr1:222885629G>A	ENST00000340020.6	-	1	237	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	AIDA_ENST00000541237.1_Intron|BROX_ENST00000340934.5_5'Flank|BROX_ENST00000539697.1_5'Flank|BROX_ENST00000537020.1_5'Flank|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000355727.2_Missense_Mutation_p.R11C	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	11					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						GCGCCCCAGCGCTGCAGCAGA	0.672																																						ENST00000340020.6																			0				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(31-33)Cgc>Tgc		axin interactor, dorsalization associated							14.0	13.0	13.0					1																	222885629		2197	4264	6461	SO:0001583	missense	64853				dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity			g.chr1:222885629G>A	BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"""axin interaction partner and dorsalization antagonist"""	612375	"""chromosome 1 open reading frame 80"""	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.31C>T	1.37:g.222885629G>A	ENSP00000339161:p.Arg11Cys					AIDA_ENST00000541237.1_Intron|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000355727.2_Missense_Mutation_p.R11C	p.R11C	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN			1	237	-			11					A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Missense_Mutation	SNP	ENST00000340020.6	37	c.31C>T	CCDS1533.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991633	0.74703	.	.	ENSG00000186063	ENST00000340020;ENST00000355727	.	.	.	5.51	5.51	0.81932	Axin interactor, dorsalization-associated protein, N-terminal (2);	0.063428	0.64402	D	0.000002	T	0.58323	0.2114	L	0.29908	0.895	0.80722	D	1	P	0.49559	0.925	P	0.53062	0.717	T	0.62015	-0.6943	9	0.87932	D	0	.	13.9767	0.64277	0.0:0.0:0.8482:0.1518	.	11	Q96BJ3	AIDA_HUMAN	C	11	.	ENSP00000339161:R11C	R	-	1	0	AIDA	220952252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.819000	0.48049	2.609000	0.88269	0.549000	0.68633	CGC		0.672	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091818.1	NM_022831		3	25	0	0	0	1	0	3	25				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	12	0	0	0	1	0	3	12				
DENND4C	55667	broad.mit.edu	37	9	19296092	19296092	+	Silent	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr9:19296092G>A	ENST00000380432.2	+	2	213	c.180G>A	c.(178-180)acG>acA	p.T60T	DENND4C_ENST00000602925.1_Silent_p.T296T|DENND4C_ENST00000434457.2_Silent_p.T296T			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	60					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GCTTGTTGACGCCTGTGGAGA	0.393																																						ENST00000380432.2																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(178-180)acG>acA		DENN/MADD domain containing 4C							147.0	139.0	141.0					9																	19296092		1859	4097	5956	SO:0001819	synonymous_variant	55667					integral to membrane		g.chr9:19296092G>A	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.180G>A	9.37:g.19296092G>A						DENND4C_ENST00000434457.2_Silent_p.T296T|DENND4C_ENST00000602925.1_Silent_p.T296T|DENND4C_ENST00000307015.9_5'UTR	p.T60T	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN			2	213	+			60					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Silent	SNP	ENST00000380432.2	37	c.180G>A																																																																																					0.393	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		10	74	0	0	0	1	0	10	74				
RTN1	6252	broad.mit.edu	37	14	60074190	60074190	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr14:60074190G>A	ENST00000267484.5	-	4	2121	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Missense_Mutation_p.R28W|RTN1_ENST00000395090.1_Missense_Mutation_p.R13W	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	596	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.R596W(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTGATGTCCCGCCAATACAAC	0.602																																						ENST00000267484.5																			1	Substitution - Missense(1)	p.R596W(1)	large_intestine(1)	central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(1786-1788)Cgg>Tgg		reticulon 1							27.0	27.0	27.0					14																	60074190		2203	4298	6501	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60074190G>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1786C>T	14.37:g.60074190G>A	ENSP00000267484:p.Arg596Trp					RTN1_ENST00000342503.4_Missense_Mutation_p.R28W|RTN1_ENST00000395090.1_Missense_Mutation_p.R13W|RTN1_ENST00000557422.1_5'UTR	p.R596W	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	4	2121	-			596			Reticulon.		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.1786C>T	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340109	0.81911	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.55930	0.49;0.49;0.49	5.99	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.79364	0.4433	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85102	0.0958	10	0.87932	D	0	.	16.5098	0.84281	0.0:0.0:0.7264:0.2736	.	13;596;28	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	W	176;596;13;28;522	ENSP00000267484:R596W;ENSP00000378525:R13W;ENSP00000340716:R28W	ENSP00000267484:R596W	R	-	1	2	RTN1	59143943	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.108000	0.50337	0.412000	0.25729	0.655000	0.94253	CGG		0.602	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			3	28	0	0	0	1	0	3	28				
CARD11	84433	broad.mit.edu	37	7	2983865	2983865	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr7:2983865C>T	ENST00000396946.4	-	5	1068	c.665G>A	c.(664-666)aGc>aAc	p.S222N	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	222					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GAGGTCTCGGCTCCTCATGAC	0.562			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(664-666)aGc>aAc		caspase recruitment domain family, member 11							144.0	91.0	109.0					7																	2983865		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2983865C>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.665G>A	7.37:g.2983865C>T	ENSP00000380150:p.Ser222Asn					AC004906.3_ENST00000423194.1_RNA	p.S222N	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	1068	-		Ovarian(82;0.0115)	222					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.665G>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714689	0.68730	.	.	ENSG00000198286	ENST00000396946	T	0.35236	1.32	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.24084	0.0583	N	0.14661	0.345	0.43330	D	0.995366	P	0.37824	0.609	B	0.40825	0.341	T	0.05649	-1.0872	10	0.38643	T	0.18	-39.9083	10.5185	0.44905	0.0:0.9092:0.0:0.0908	.	222	Q9BXL7	CAR11_HUMAN	N	222	ENSP00000380150:S222N	ENSP00000380150:S222N	S	-	2	0	CARD11	2950391	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.553000	0.67287	2.029000	0.59856	0.561000	0.74099	AGC		0.562	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		23	94	0	0	0	1	0	23	94				
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	G	A	rs2781608		TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr1:17272075G>A	ENST00000375541.5	+	15	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.A704T(11)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657																																						ENST00000375541.5																			11	Substitution - Missense(11)	p.A704T(11)	kidney(7)|endometrium(1)|prostate(1)|lung(1)|central_nervous_system(1)	breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(2110-2112)Gcc>Acc		ciliary rootlet coiled-coil, rootletin							20.0	18.0	19.0					1																	17272075		2199	4291	6490	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17272075G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2110G>A	1.37:g.17272075G>A	ENSP00000364691:p.Ala704Thr					CROCC_ENST00000467938.1_3'UTR	p.A704T	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	15	2179	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	704						Missense_Mutation	SNP	ENST00000375541.5	37	c.2110G>A	CCDS30616.1	202	0.0924908424908425	54	0.10975609756097561	27	0.07458563535911603	41	0.07167832167832168	80	0.10554089709762533	g	7.919	0.738064	0.15574	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10668	2.85	5.01	4.1	0.47936	.	.	.	.	.	T	0.00300	0.0009	L	0.47716	1.5	0.30387	N	0.781339	D;P;P	0.57899	0.981;0.952;0.873	P;P;B	0.52554	0.702;0.579;0.439	T	0.02477	-1.1153	9	0.16420	T	0.52	.	13.1749	0.59621	0.0795:0.0:0.9205:0.0	rs2781608;rs3871256;rs3872330	567;7;704	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	T	704;585	ENSP00000364691:A704T	ENSP00000364691:A704T	A	+	1	0	CROCC	17144662	0.999000	0.42202	0.970000	0.41538	0.013000	0.08279	2.720000	0.47252	1.448000	0.47680	-0.215000	0.12644	GCC		0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		5	35	0	0	0	1	0	5	35				
DNAH9	1770	broad.mit.edu	37	17	11666923	11666923	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr17:11666923C>A	ENST00000262442.4	+	36	7230	c.7162C>A	c.(7162-7164)Caa>Aaa	p.Q2388K	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q2388K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2388					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCAATGGTCCAAGATCAGGT	0.463																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7162-7164)Caa>Aaa		dynein, axonemal, heavy chain 9							59.0	54.0	56.0					17																	11666923		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11666923C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7162C>A	17.37:g.11666923C>A	ENSP00000262442:p.Gln2388Lys					DNAH9_ENST00000454412.2_Missense_Mutation_p.Q2388K	p.Q2388K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	36	7230	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2388					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7162C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723494	0.68959	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.25749	1.82;1.78	4.92	4.92	0.64577	.	0.424262	0.23622	N	0.046221	T	0.35770	0.0943	M	0.72894	2.215	0.80722	D	1	B	0.24483	0.104	B	0.31337	0.128	T	0.18967	-1.0320	10	0.41790	T	0.15	.	18.4999	0.90877	0.0:1.0:0.0:0.0	.	2388	Q9NYC9	DYH9_HUMAN	K	2388;2388;970	ENSP00000262442:Q2388K;ENSP00000414874:Q2388K	ENSP00000262442:Q2388K	Q	+	1	0	DNAH9	11607648	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.865000	0.69583	2.427000	0.82271	0.655000	0.94253	CAA		0.463	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	35	1	0	0.150653	1	0.153007	3	35				
CILP2	148113	broad.mit.edu	37	19	19651098	19651098	+	Silent	SNP	C	C	T			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr19:19651098C>T	ENST00000291495.5	+	3	334	c.249C>T	c.(247-249)taC>taT	p.Y83Y	CILP2_ENST00000586018.1_Silent_p.Y89Y	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	83						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TCCGCTTCTACTACGGGCCAG	0.721																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(265-267)taC>taT		cartilage intermediate layer protein 2							15.0	17.0	16.0					19																	19651098		2174	4291	6465	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19651098C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.249C>T	19.37:g.19651098C>T						CILP2_ENST00000291495.4_Silent_p.Y83Y	p.Y89Y			Q8IUL8	CILP2_HUMAN			3	369	+			83					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.267C>T	CCDS12405.1																																																																																				0.721	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		6	28	0	0	0	1	0	6	28				
DYRK1B	9149	broad.mit.edu	37	19	40316437	40316437	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr19:40316437A>G	ENST00000593685.1	-	11	2276	c.1808T>C	c.(1807-1809)cTc>cCc	p.L603P	DYRK1B_ENST00000348817.3_Missense_Mutation_p.L575P|DYRK1B_ENST00000323039.5_Missense_Mutation_p.L603P|DYRK1B_ENST00000597639.1_Missense_Mutation_p.L575P|DYRK1B_ENST00000430012.2_Missense_Mutation_p.L563P			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	603					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGGAGGCGGGAGGGGTGGACG	0.721																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1807-1809)cTc>cCc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							6.0	8.0	8.0					19																	40316437		2162	4210	6372	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316437A>G	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1808T>C	19.37:g.40316437A>G	ENSP00000469863:p.Leu603Pro					DYRK1B_ENST00000430012.2_Missense_Mutation_p.L563P|DYRK1B_ENST00000597639.1_Missense_Mutation_p.L575P|DYRK1B_ENST00000323039.5_Missense_Mutation_p.L603P|DYRK1B_ENST00000348817.3_Missense_Mutation_p.L575P	p.L603P			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2276	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		603					O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.1808T>C	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.141548	0.57044	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.58060	0.36;0.41;0.48	5.25	4.23	0.50019	.	0.214240	0.31636	N	0.007307	T	0.28466	0.0704	N	0.08118	0	0.58432	D	0.999999	B;B;B	0.17038	0.02;0.0;0.001	B;B;B	0.16289	0.015;0.0;0.001	T	0.09997	-1.0649	10	0.22706	T	0.39	.	8.5398	0.33386	0.9088:0.0:0.0912:0.0	.	563;603;575	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	P	603;575;563	ENSP00000312789:L603P;ENSP00000221803:L575P;ENSP00000403182:L563P	ENSP00000312789:L603P	L	-	2	0	DYRK1B	45008277	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.731000	0.38135	1.967000	0.57214	0.379000	0.24179	CTC		0.721	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		6	16	0	0	0	1	0	6	16				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	12	1	0	0.184627	1	0.184627	3	12				
ZNF618	114991	broad.mit.edu	37	9	116811047	116811047	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr9:116811047G>A	ENST00000374126.5	+	15	1564	c.1465G>A	c.(1465-1467)Ggg>Agg	p.G489R	ZNF618_ENST00000288466.7_Missense_Mutation_p.G396R|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGTGGTCAGCGGGAAGGAGTT	0.587																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(1186-1188)Ggg>Agg		zinc finger protein 618							65.0	72.0	70.0					9																	116811047		2042	4181	6223	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811047G>A	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1465G>A	9.37:g.116811047G>A	ENSP00000363241:p.Gly489Arg					ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.G489R	p.G396R	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			14	1285	+			489					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.1186G>A		.	.	.	.	.	.	.	.	.	.	G	17.03	3.283745	0.59867	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T	0.04317	3.65	5.16	5.16	0.70880	.	0.061916	0.64402	D	0.000001	T	0.18002	0.0432	.	.	.	0.48288	D	0.999629	D;D;D	0.89917	0.997;0.999;1.0	P;P;D	0.71656	0.806;0.819;0.974	T	0.00059	-1.2165	9	0.72032	D	0.01	-29.1391	11.1607	0.48514	0.0841:0.0:0.9159:0.0	.	456;489;396	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	R	489;396	ENSP00000288466:G396R	ENSP00000288466:G396R	G	+	1	0	ZNF618	115850868	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	4.855000	0.62925	2.402000	0.81655	0.561000	0.74099	GGG		0.587	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		16	81	0	0	0	1	0	16	81				
IGHV3-35	28432	broad.mit.edu	37	14	106845444	106845444	+	RNA	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr14:106845444G>A	ENST00000390617.2	-	0	244									immunoglobulin heavy variable 3-35 (non-functional)																		TGCATAGTGCGTCCTACTGCC	0.527																																						ENST00000390617.2																			0																				145.0	141.0	142.0					14																	106845444		1952	4120	6072			28432							g.chr14:106845444G>A	M99666		14q32.33	2012-02-08	2008-08-22		ENSG00000211957	ENSG00000211957		"""Immunoglobulins / IGH locus"""	5598	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-35"""				Standard	NG_001019		Approved				OTTHUMG00000152079		14.37:g.106845444G>A														0	244	-									RNA	SNP	ENST00000390617.2	37																																																																																						0.527	IGHV3-35-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325174.1	NG_001019		50	282	0	0	0	1	0	50	282				
CCNL2	81669	broad.mit.edu	37	1	1333701	1333701	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr1:1333701G>A	ENST00000400809.3	-	3	390	c.385C>T	c.(385-387)Cac>Tac	p.H129Y	RP4-758J18.2_ENST00000448629.2_5'Flank|CCNL2_ENST00000408952.5_5'Flank|CCNL2_ENST00000408918.4_Missense_Mutation_p.H129Y|RP4-758J18.2_ENST00000576232.1_5'Flank|RP4-758J18.2_ENST00000444362.1_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	129	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GAAGCCAGGTGGACACAGGCC	0.557																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(385-387)Cac>Tac		cyclin L2							171.0	148.0	156.0					1																	1333701		2203	4300	6503	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1333701G>A	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.385C>T	1.37:g.1333701G>A	ENSP00000383611:p.His129Tyr					CCNL2_ENST00000408918.4_Missense_Mutation_p.H129Y	p.H129Y	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	3	390	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	129			Cyclin-like 1.		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	37	c.385C>T	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	G	7.326	0.617916	0.14129	.	.	ENSG00000221978	ENST00000400809;ENST00000408918	T;T	0.35236	1.32;1.32	4.73	4.73	0.59995	Cyclin, N-terminal (1);Cyclin-like (3);	0.156878	0.44483	D	0.000449	T	0.25419	0.0618	N	0.00633	-1.31	0.80722	D	1	B;D;B	0.63880	0.002;0.993;0.001	B;P;B	0.62813	0.007;0.907;0.0	T	0.51942	-0.8641	9	.	.	.	.	16.8505	0.85992	0.0:0.0:1.0:0.0	.	129;129;129	F2Z3J5;Q96S94;Q96S94-2	.;CCNL2_HUMAN;.	Y	129	ENSP00000383611:H129Y;ENSP00000386158:H129Y	.	H	-	1	0	CCNL2	1323564	1.000000	0.71417	0.986000	0.45419	0.982000	0.71751	5.517000	0.67061	2.457000	0.83068	0.655000	0.94253	CAC		0.557	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		14	122	0	0	0	1	0	14	122				
TTN	7273	broad.mit.edu	37	2	179447931	179447931	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr2:179447931C>T	ENST00000591111.1	-	263	60900	c.60676G>A	c.(60676-60678)Gtg>Atg	p.V20226M	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V19299M|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V12994M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V12927M|TTN_ENST00000460472.2_Missense_Mutation_p.V12802M|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V21867M|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20226	Ig-like 111.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATAGCCACACTCAGGTCT	0.363																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(65599-65601)Gtg>Atg		titin							51.0	50.0	50.0					2																	179447931		1860	4111	5971	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179447931C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60676G>A	2.37:g.179447931C>T	ENSP00000465570:p.Val20226Met					TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V12927M|TTN_ENST00000342175.6_Missense_Mutation_p.V12994M|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V19299M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V12802M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V20226M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.V21867M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		313	65823	-			20226			Fibronectin type-III 58.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.65599G>A		.	.	.	.	.	.	.	.	.	.	C	9.569	1.120619	0.20877	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64438	-0.1;0.17;0.15;0.14	5.91	3.08	0.35506	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59756	0.2217	M	0.64404	1.975	0.24752	N	0.992975	P;P;P;P	0.38677	0.642;0.642;0.642;0.457	B;B;B;B	0.44085	0.394;0.394;0.394;0.44	T	0.57688	-0.7768	9	0.87932	D	0	.	2.2171	0.03963	0.252:0.3462:0.2736:0.1282	.	12802;12927;12994;20226	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	19299;12802;12994;12927;12800	ENSP00000343764:V19299M;ENSP00000434586:V12802M;ENSP00000340554:V12994M;ENSP00000352154:V12927M	ENSP00000340554:V12994M	V	-	1	0	TTN	179156177	0.955000	0.32602	0.794000	0.32065	0.626000	0.37791	0.220000	0.17660	0.359000	0.24239	0.655000	0.94253	GTG		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	12	0	0	0	1	0	3	12				
FMN2	56776	broad.mit.edu	37	1	240255972	240255972	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr1:240255972C>T	ENST00000319653.9	+	1	793	c.563C>T	c.(562-564)tCg>tTg	p.S188L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	188					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCTTCCATTCGGCTACGGAG	0.622																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(562-564)tCg>tTg		formin 2							74.0	72.0	73.0					1																	240255972		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255972C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.563C>T	1.37:g.240255972C>T	ENSP00000318884:p.Ser188Leu						p.S188L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	793	+	Ovarian(103;0.127)	all_cancers(173;0.013)	188					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.563C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658451	0.47467	.	.	ENSG00000155816	ENST00000319653	T	0.61392	0.11	3.68	3.68	0.42216	.	0.000000	0.53938	D	0.000056	T	0.72637	0.3485	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.77542	-0.2549	10	0.87932	D	0	.	15.9248	0.79609	0.0:1.0:0.0:0.0	.	188	Q9NZ56	FMN2_HUMAN	L	188	ENSP00000318884:S188L	ENSP00000318884:S188L	S	+	2	0	FMN2	238322595	1.000000	0.71417	0.992000	0.48379	0.794000	0.44872	6.826000	0.75298	2.046000	0.60703	0.313000	0.20887	TCG		0.622	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		14	88	0	0	0	1	0	14	88				
SLC9A2	6549	broad.mit.edu	37	2	103274152	103274152	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr2:103274152T>C	ENST00000233969.2	+	2	561	c.419T>C	c.(418-420)gTa>gCa	p.V140A		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	140					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AAGACTGATGTATTTTTCTTG	0.463																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(418-420)gTa>gCa		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							263.0	244.0	250.0					2																	103274152		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103274152T>C		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.419T>C	2.37:g.103274152T>C	ENSP00000233969:p.Val140Ala						p.V140A	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			2	561	+			140					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.419T>C	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384237	0.82792	.	.	ENSG00000115616	ENST00000233969	T	0.18338	2.22	6.03	6.03	0.97812	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	L	0.42245	1.32	0.51482	D	0.999924	P	0.40282	0.711	B	0.43809	0.432	T	0.00643	-1.1630	10	0.41790	T	0.15	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	140	Q9UBY0	SL9A2_HUMAN	A	140	ENSP00000233969:V140A	ENSP00000233969:V140A	V	+	2	0	SLC9A2	102640584	1.000000	0.71417	0.927000	0.36925	0.992000	0.81027	6.284000	0.72652	2.302000	0.77476	0.533000	0.62120	GTA		0.463	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			29	168	0	0	0	1	0	29	168				
MS4A4A	51338	broad.mit.edu	37	11	60048157	60048157	+	Silent	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr11:60048157G>A	ENST00000337908.4	+	1	99	c.9G>A	c.(7-9)caG>caA	p.Q3Q	MS4A4A_ENST00000532114.1_Silent_p.Q3Q|MS4A4A_ENST00000355131.3_5'UTR|MS4A4A_ENST00000395016.3_5'Flank	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	3						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GCATGCATCAGACCTACAGCA	0.502																																						ENST00000337908.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						c.(7-9)caG>caA		membrane-spanning 4-domains, subfamily A, member 4A							120.0	109.0	113.0					11																	60048157		2203	4300	6503	SO:0001819	synonymous_variant	51338					integral to membrane	receptor activity	g.chr11:60048157G>A	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.9G>A	11.37:g.60048157G>A						MS4A4A_ENST00000355131.3_5'UTR|MS4A4A_ENST00000532114.1_Silent_p.Q3Q	p.Q3Q	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN			1	99	+			3					Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Silent	SNP	ENST00000337908.4	37	c.9G>A	CCDS7982.1																																																																																				0.502	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			10	55	0	0	0	1	0	10	55				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		7	48	0	0	0	1	0	7	48				
SH3GLB2	56904	broad.mit.edu	37	9	131783493	131783493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr9:131783493G>A	ENST00000372564.3	-	3	356	c.211C>T	c.(211-213)Cga>Tga	p.R71*	SH3GLB2_ENST00000416629.1_Nonsense_Mutation_p.R71*|SH3GLB2_ENST00000417224.1_Nonsense_Mutation_p.R71*|SH3GLB2_ENST00000372554.4_Nonsense_Mutation_p.R71*|SH3GLB2_ENST00000372559.1_Nonsense_Mutation_p.R71*	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	71	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						TCCTCCACTCGGGCACCTGTG	0.597																																						ENST00000372564.3																			0				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						c.(211-213)Cga>Tga		SH3-domain GRB2-like endophilin B2							26.0	25.0	26.0					9																	131783493		2203	4300	6503	SO:0001587	stop_gained	56904				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding	g.chr9:131783493G>A	AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"""SH3-domain, GRB2-like, endophilin B2"""			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.211C>T	9.37:g.131783493G>A	ENSP00000361645:p.Arg71*					SH3GLB2_ENST00000372559.1_Nonsense_Mutation_p.R71*|SH3GLB2_ENST00000416629.1_Nonsense_Mutation_p.R71*|SH3GLB2_ENST00000417224.1_Nonsense_Mutation_p.R71*|SH3GLB2_ENST00000372554.4_Nonsense_Mutation_p.R71*	p.R71*	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN			3	356	-			71			BAR.		A6NC47|A8MPS4|Q8WY61|Q96JH9	Nonsense_Mutation	SNP	ENST00000372564.3	37	c.211C>T	CCDS6916.1	.	.	.	.	.	.	.	.	.	.	G	38	7.013032	0.98002	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224;ENST00000416629	.	.	.	5.59	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1788	0.59642	0.0:0.0:0.6946:0.3054	.	.	.	.	X	71	.	ENSP00000361634:R71X	R	-	1	2	SH3GLB2	130823314	0.998000	0.40836	0.993000	0.49108	0.865000	0.49528	2.451000	0.44952	1.317000	0.45149	0.460000	0.39030	CGA		0.597	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054535.2			10	38	0	0	0	1	0	10	38				
CHP2	63928	broad.mit.edu	37	16	23767738	23767738	+	Missense_Mutation	SNP	G	G	T	rs79455352	byFrequency	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr16:23767738G>T	ENST00000300113.2	+	5	805	c.382G>T	c.(382-384)Gat>Tat	p.D128Y		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	128	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D128Y(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CCTGGATCGCGATGGGAAGAT	0.537													G|||	30	0.00599042	0.0008	0.0	5008	,	,		20317	0.0248		0.0	False		,,,				2504	0.0041					ENST00000300113.2																			1	Substitution - Missense(1)	p.D128Y(1)	stomach(1)	central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9						c.(382-384)Gat>Tat		calcineurin-like EF-hand protein 2		G	TYR/ASP	0,4394		0,0,2197	86.0	69.0	75.0		382	3.8	0.9	16	dbSNP_131	75	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CHP2	NM_022097.2	160	0,2,6495	TT,TG,GG		0.0233,0.0,0.0154	probably-damaging	128/197	23767738	2,12992	2197	4300	6497	SO:0001583	missense	63928						calcium ion binding	g.chr16:23767738G>T		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.382G>T	16.37:g.23767738G>T	ENSP00000300113:p.Asp128Tyr						p.D128Y	NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	5	805	+			128			EF-hand 3.		A8K2I8	Missense_Mutation	SNP	ENST00000300113.2	37	c.382G>T	CCDS10617.1	14	0.00641025641025641	1	0.0020325203252032522	0	0.0	13	0.022727272727272728	0	0.0	G	16.15	3.041577	0.55003	0.0	2.33E-4	ENSG00000166869	ENST00000300113	T	0.81163	-1.46	3.82	3.82	0.43975	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87970	0.6312	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91648	0.5332	10	0.87932	D	0	-17.3968	14.0131	0.64509	0.0:0.0:1.0:0.0	.	128	O43745	CHP2_HUMAN	Y	128	ENSP00000300113:D128Y	ENSP00000300113:D128Y	D	+	1	0	AC130454.2	23675239	1.000000	0.71417	0.942000	0.38095	0.291000	0.27294	8.034000	0.88864	2.414000	0.81942	0.591000	0.81541	GAT		0.537	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097		3	35	1	0	6.4e-05	1	6.81967e-05	3	35				
PCDHGA10	56106	broad.mit.edu	37	5	140794477	140794477	+	Missense_Mutation	SNP	G	G	A	rs541492590		TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr5:140794477G>A	ENST00000398610.2	+	1	1735	c.1735G>A	c.(1735-1737)Gtg>Atg	p.V579M	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	579	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACAGGCGTGGAGCTGGC	0.652													g|||	1	0.000199681	0.0	0.0014	5008	,	,		17045	0.0		0.0	False		,,,				2504	0.0					ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1735-1737)Gtg>Atg									115.0	132.0	126.0					5																	140794477		2203	4300	6503	SO:0001583	missense	56106							g.chr5:140794477G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1735G>A	5.37:g.140794477G>A	ENSP00000381611:p.Val579Met					PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron	p.V579M	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1735	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.1735G>A	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	g	12.92	2.083844	0.36758	.	.	ENSG00000253846	ENST00000398610	T	0.60040	0.22	5.63	4.76	0.60689	Cadherin-like (1);	.	.	.	.	T	0.49098	0.1537	M	0.72894	2.215	0.20703	N	0.999865	P;P	0.51537	0.902;0.946	B;B	0.37692	0.245;0.256	T	0.58797	-0.7573	9	0.62326	D	0.03	.	2.6376	0.04962	0.1482:0.1258:0.5185:0.2075	.	579;579	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	M	579	ENSP00000381611:V579M	ENSP00000381611:V579M	V	+	1	0	PCDHGA10	140774661	0.989000	0.36119	0.916000	0.36221	0.889000	0.51656	1.529000	0.35996	1.409000	0.46915	0.650000	0.86243	GTG		0.652	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		63	626	0	0	0	1	0	63	626				
KMT2D	8085	broad.mit.edu	37	12	49433051	49433051	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr12:49433051G>A	ENST00000301067.7	-	33	8319	c.8320C>T	c.(8320-8322)Cgg>Tgg	p.R2774W	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2774					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGAGGTGGCCGGGAGAGTCGG	0.607																																						ENST00000301067.7																			0											c.(8320-8322)Cgg>Tgg		lysine (K)-specific methyltransferase 2D							43.0	51.0	48.0					12																	49433051		1877	4101	5978	SO:0001583	missense	8085							g.chr12:49433051G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8320C>T	12.37:g.49433051G>A	ENSP00000301067:p.Arg2774Trp						p.R2774W	NM_003482.3	NP_003473.3					33	8319	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.8320C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033695	0.35893	.	.	ENSG00000167548	ENST00000301067	T	0.81330	-1.48	4.8	3.91	0.45181	.	0.000000	0.33346	N	0.005017	D	0.82967	0.5152	L	0.38175	1.15	0.39342	D	0.965598	D	0.89917	1.0	D	0.71184	0.972	D	0.84720	0.0739	10	0.87932	D	0	.	10.5702	0.45196	0.0:0.0:0.8075:0.1925	.	2774	O14686	MLL2_HUMAN	W	2774	ENSP00000301067:R2774W	ENSP00000301067:R2774W	R	-	1	2	MLL2	47719318	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.673000	0.37534	1.382000	0.46385	0.561000	0.74099	CGG		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			28	119	0	0	0	1	0	28	119				
CCNL2	81669	broad.mit.edu	37	1	1333700	1333700	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr1:1333700T>A	ENST00000400809.3	-	3	391	c.386A>T	c.(385-387)cAc>cTc	p.H129L	RP4-758J18.2_ENST00000448629.2_5'Flank|CCNL2_ENST00000408952.5_5'Flank|CCNL2_ENST00000408918.4_Missense_Mutation_p.H129L|RP4-758J18.2_ENST00000576232.1_5'Flank|RP4-758J18.2_ENST00000444362.1_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	129	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GGAAGCCAGGTGGACACAGGC	0.562																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(385-387)cAc>cTc		cyclin L2							174.0	150.0	158.0					1																	1333700		2203	4300	6503	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1333700T>A	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.386A>T	1.37:g.1333700T>A	ENSP00000383611:p.His129Leu					CCNL2_ENST00000408918.4_Missense_Mutation_p.H129L	p.H129L	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	3	391	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	129			Cyclin-like 1.		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	37	c.386A>T	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633493	0.47049	.	.	ENSG00000221978	ENST00000400809;ENST00000408918	T;T	0.38401	1.14;1.14	4.73	4.73	0.59995	Cyclin, N-terminal (1);Cyclin-like (3);	0.156878	0.44483	D	0.000449	T	0.17746	0.0426	N	0.03268	-0.37	0.80722	D	1	B;B;B	0.30326	0.002;0.276;0.003	B;B;B	0.32211	0.007;0.142;0.0	T	0.13150	-1.0520	9	.	.	.	.	13.5363	0.61648	0.0:0.0:0.0:1.0	.	129;129;129	F2Z3J5;Q96S94;Q96S94-2	.;CCNL2_HUMAN;.	L	129	ENSP00000383611:H129L;ENSP00000386158:H129L	.	H	-	2	0	CCNL2	1323563	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	7.449000	0.80643	1.988000	0.58038	0.533000	0.62120	CAC		0.562	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		14	125	0	0	0	1	0	14	125				
EVC	2121	broad.mit.edu	37	4	5809991	5809991	+	Silent	SNP	C	C	T			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr4:5809991C>T	ENST00000264956.6	+	18	2809	c.2625C>T	c.(2623-2625)caC>caT	p.H875H	EVC_ENST00000382674.2_Silent_p.H875H	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	875					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGCGTCTGCACGCCCAGCAGC	0.607																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(2623-2625)caC>caT		Ellis van Creveld syndrome							57.0	52.0	54.0					4																	5809991		2203	4300	6503	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5809991C>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2625C>T	4.37:g.5809991C>T						EVC_ENST00000264956.6_Silent_p.H875H	p.H875H			P57679	EVC_HUMAN			18	2809	+		Myeloproliferative disorder(84;0.117)	875						Silent	SNP	ENST00000264956.6	37	c.2625C>T	CCDS3383.1																																																																																				0.607	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			11	63	0	0	0	1	0	11	63				
AR	367	broad.mit.edu	37	X	66765158	66765158	+	Missense_Mutation	SNP	T	T	A	rs78686797|rs3032358|rs4045402		TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chrX:66765158T>A	ENST00000374690.3	+	1	694	c.170T>A	c.(169-171)cTg>cAg	p.L57Q	AR_ENST00000396044.3_Missense_Mutation_p.L57Q|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.L57Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	57	Modulating.|Poly-Leu.		L -> Q (in prostate cancer).		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L57Q(3)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TTGCTGCTGCTgcagcagcag	0.667									Androgen Insensitivity Syndrome																													ENST00000374690.3																			3	Substitution - Missense(3)	p.L57Q(3)	lung(1)|endometrium(1)|central_nervous_system(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67						c.(169-171)cTg>cAg		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						9.0	12.0	11.0					X																	66765158		2134	4208	6342	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765158T>A	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.170T>A	X.37:g.66765158T>A	ENSP00000363822:p.Leu57Gln					AR_ENST00000396044.3_Missense_Mutation_p.L57Q|AR_ENST00000504326.1_Missense_Mutation_p.L57Q|AR_ENST00000513847.1_3'UTR	p.L57Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	694	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	57		L -> Q (in prostate cancer).	Modulating.|Poly-Leu.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.170T>A	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	N	0.020	-1.439011	0.01098	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.83992	-1.79;-1.79;-1.79	.	.	.	.	0.157526	0.30101	N	0.010412	T	0.56441	0.1985	N	0.03608	-0.345	0.09310	N	0.999999	.	.	.	.	.	.	T	0.48927	-0.8991	6	0.20519	T	0.43	.	.	.	.	.	57;57;55	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	Q	57	ENSP00000363822:L57Q;ENSP00000421155:L57Q;ENSP00000379359:L57Q	ENSP00000363822:L57Q	L	+	2	0	AR	66681883	0.999000	0.42202	0.884000	0.34674	0.488000	0.33401	0.326000	0.19646	0.000000	0.14550	0.000000	0.15137	CTG		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		4	73	0	0	0	1	0	4	73				
BLNK	29760	broad.mit.edu	37	10	98031155	98031155	+	Start_Codon_SNP	SNP	T	T	C			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr10:98031155T>C	ENST00000224337.5	-	1	142	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	BLNK_ENST00000427367.2_Start_Codon_SNP_p.M1V|BLNK_ENST00000413476.2_Start_Codon_SNP_p.M1V|BLNK_ENST00000371176.2_Start_Codon_SNP_p.M1V|BLNK_ENST00000495266.1_Start_Codon_SNP_p.M1V	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	1					B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AGCTTGTCCATTCTGTTTGGT	0.483																																						ENST00000224337.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14						c.(1-3)Atg>Gtg		B-cell linker							116.0	105.0	108.0					10																	98031155		2203	4300	6503	SO:0001582	initiator_codon_variant	29760				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr10:98031155T>C	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.1A>G	10.37:g.98031155T>C	ENSP00000224337:p.Met1Val					BLNK_ENST00000495266.1_Start_Codon_SNP_p.M1V|BLNK_ENST00000371176.2_Start_Codon_SNP_p.M1V|BLNK_ENST00000413476.2_Start_Codon_SNP_p.M1V|BLNK_ENST00000427367.2_Start_Codon_SNP_p.M1V	p.M1V	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)	1	142	-		Colorectal(252;0.083)	1					O75498|O75499|Q2MD49	Translation_Start_Site	SNP	ENST00000224337.5	37	c.1A>G	CCDS7446.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.116919	0.56505	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049;ENST00000393894;ENST00000393889;ENST00000428924;ENST00000393898	.	.	.	5.8	5.8	0.92144	.	0.038349	0.85682	D	0.000000	T	0.77698	0.4169	.	.	.	0.80722	D	1	P;P;P;P;P	0.52577	0.954;0.954;0.811;0.811;0.713	D;D;P;P;P	0.66351	0.943;0.943;0.879;0.879;0.761	T	0.80153	-0.1501	8	0.66056	D	0.02	.	12.5298	0.56109	0.0:0.0:0.0:1.0	.	1;1;1;1;1	Q2MD54;Q2MD49;Q8WV28-2;Q2MD59;Q8WV28	.;.;.;.;BLNK_HUMAN	V	1;1;1;1;1;1;1;1;14	.	ENSP00000224337:M1V	M	-	1	0	BLNK	98021145	0.972000	0.33761	0.963000	0.40424	0.591000	0.36615	3.992000	0.56980	2.203000	0.70933	0.459000	0.35465	ATG		0.483	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	NM_013314	Missense_Mutation	13	37	0	0	0	1	0	13	37				
EP300	2033	broad.mit.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with histone. {ECO:0000269|PubMed:18273021}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		7	Substitution - Missense(7)	p.D1399N(5)|p.D1399Y(2)	lung(3)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)|cervix(1)	NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(4195-4197)Gat>Aat		E1A binding protein p300							98.0	93.0	95.0					22																	41565529		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41565529G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4195G>A	22.37:g.41565529G>A	ENSP00000263253:p.Asp1399Asn					RP1-85F18.6_ENST00000415054.1_RNA	p.D1399N	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			26	5414	+			1399					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4195G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998529	0.93227	.	.	ENSG00000100393	ENST00000263253	D	0.99422	-5.88	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000275	D	0.99743	0.9898	H	0.96633	3.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.97288	0.9922	10	0.87932	D	0	-10.979	19.5071	0.95124	0.0:0.0:1.0:0.0	.	1399	Q09472	EP300_HUMAN	N	1399	ENSP00000263253:D1399N	ENSP00000263253:D1399N	D	+	1	0	EP300	39895475	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.760000	0.98935	2.617000	0.88574	0.557000	0.71058	GAT		0.338	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		5	34	0	0	0	1	0	5	34				
CEP170B	283638	broad.mit.edu	37	14	105349547	105349547	+	Silent	SNP	T	T	C	rs200725057		TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr14:105349547T>C	ENST00000414716.3	+	8	981	c.753T>C	c.(751-753)gaT>gaC	p.D251D	CEP170B_ENST00000453495.1_Silent_p.D252D|CEP170B_ENST00000556508.1_Silent_p.D181D|CEP170B_ENST00000418279.1_Silent_p.D181D	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	251						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CCACGAAGGATGCAGAGGCAG	0.662													t|||	1	0.000199681	0.0	0.0	5008	,	,		12616	0.0		0.001	False		,,,				2504	0.0					ENST00000453495.1																			0											c.(754-756)gaT>gaC		centrosomal protein 170B			,	3,4053		0,3,2025	26.0	35.0	32.0		753,543	-3.4	0.0	14		32	16,8306		0,16,4145	no	coding-synonymous,coding-synonymous	KIAA0284	NM_001112726.2,NM_015005.2	,	0,19,6170	CC,CT,TT		0.1923,0.074,0.1535	,	251/1555,181/1520	105349547	19,12359	2028	4161	6189	SO:0001819	synonymous_variant	283638							g.chr14:105349547T>C	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.753T>C	14.37:g.105349547T>C						CEP170B_ENST00000418279.1_Silent_p.D181D|CEP170B_ENST00000414716.3_Silent_p.D251D|CEP170B_ENST00000556508.1_Silent_p.D181D	p.D252D							8	984	+								Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.756T>C	CCDS45175.1																																																																																				0.662	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		7	121	0	0	0	1	0	7	121				
NEIL3	55247	broad.mit.edu	37	4	178274739	178274739	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr4:178274739T>G	ENST00000264596.3	+	8	1435	c.1317T>G	c.(1315-1317)gaT>gaG	p.D439E	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	439					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CAACAAACGATATAACTCAAC	0.373								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1315-1317)gaT>gaG	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)							91.0	87.0	88.0					4																	178274739		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178274739T>G	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1317T>G	4.37:g.178274739T>G	ENSP00000264596:p.Asp439Glu					RP11-376O6.2_ENST00000506895.1_RNA	p.D439E	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	8	1435	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	439					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.1317T>G	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.872923	0.00542	.	.	ENSG00000109674	ENST00000264596	T	0.03635	3.86	5.09	2.62	0.31277	.	1.315570	0.04404	N	0.364698	T	0.02649	0.0080	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44143	-0.9347	10	0.02654	T	1	-0.3141	4.3439	0.11124	0.1474:0.1662:0.0:0.6864	.	439	Q8TAT5	NEIL3_HUMAN	E	439	ENSP00000264596:D439E	ENSP00000264596:D439E	D	+	3	2	NEIL3	178511733	0.000000	0.05858	0.001000	0.08648	0.203000	0.24098	-0.169000	0.09911	0.979000	0.38497	0.455000	0.32223	GAT		0.373	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		5	44	0	0	0	1	0	5	44				
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr12:57485446T>C	ENST00000300131.3	+	2	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	208					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.F208L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716																																						ENST00000300131.3																			1	Substitution - Missense(1)	p.F208L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(622-624)Ttc>Ctc		NGFI-A binding protein 2 (EGR1 binding protein 2)							12.0	17.0	15.0					12																	57485446		2196	4277	6473	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485446T>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.622T>C	12.37:g.57485446T>C	ENSP00000300131:p.Phe208Leu					NAB2_ENST00000342556.6_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L	p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	1000	+			208					B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.622T>C	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473597	0.26423	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.15	4.15	0.48705	NAB co-repressor, domain (1);	0.441905	0.22768	N	0.055868	T	0.21801	0.0525	N	0.11427	0.14	0.33270	D	0.560932	P	0.43826	0.818	B	0.41466	0.358	T	0.14392	-1.0474	9	0.10902	T	0.67	-12.462	9.5058	0.39046	0.0:0.0:0.0:1.0	.	208	Q15742	NAB2_HUMAN	L	208	.	ENSP00000300131:F208L	F	+	1	0	NAB2	55771713	0.994000	0.37717	0.852000	0.33557	0.975000	0.68041	0.652000	0.24888	1.732000	0.51606	0.379000	0.24179	TTC		0.716	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		7	50	0	0	0	1	0	7	50				
PCMTD1	115294	broad.mit.edu	37	8	52732940	52732940	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr8:52732940C>T	ENST00000360540.5	-	7	1451	c.1045G>A	c.(1045-1047)Gct>Act	p.A349T	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.A349T|PCMTD1_ENST00000544451.1_Missense_Mutation_p.A273T	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	349						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GTCAAGTAAGCTTTTAAAGAT	0.353																																						ENST00000360540.5																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(1045-1047)Gct>Act		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							53.0	53.0	53.0					8																	52732940		2201	4299	6500	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52732940C>T		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.1045G>A	8.37:g.52732940C>T	ENSP00000353739:p.Ala349Thr					PCMTD1_ENST00000522514.1_Missense_Mutation_p.A349T|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.A273T	p.A349T	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN			7	1451	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	349					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.1045G>A	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991245	0.54041	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.45668	1.52;0.89;1.52	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	N	0.22421	0.69	0.58432	D	0.999999	B;P;B	0.49559	0.051;0.925;0.004	B;P;B	0.52159	0.01;0.691;0.004	T	0.17258	-1.0375	10	0.27082	T	0.32	-7.6616	15.5075	0.75753	0.0:0.9339:0.0:0.0661	.	219;273;349	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	T	349;273;349	ENSP00000353739:A349T;ENSP00000444026:A273T;ENSP00000428099:A349T	ENSP00000353739:A349T	A	-	1	0	PCMTD1	52895493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.046000	0.76592	1.581000	0.49865	0.655000	0.94253	GCT		0.353	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		4	56	0	0	0	1	0	4	56				
HIST1H4H	8365	broad.mit.edu	37	6	26285431	26285431	+	Silent	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr6:26285431G>A	ENST00000377727.1	-	1	306	c.297C>T	c.(295-297)taC>taT	p.Y99Y	HIST1H4H_ENST00000289352.1_Silent_p.Y99Y	NM_003543.3	NP_003534.1	P62805	H4_HUMAN	histone cluster 1, H4h	99					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						CACCGAAGCCGTAAAGAGTGC	0.512										HNSCC(76;0.23)																												ENST00000289352.1																			0				lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						c.(295-297)taC>taT		histone cluster 1, H4h							134.0	116.0	122.0					6																	26285431		2203	4300	6503	SO:0001819	synonymous_variant	8365				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26285431G>A	X60487	CCDS4604.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158406	ENSG00000158406		"""Histones / Replication-dependent"""	4788	protein-coding gene	gene with protein product		602828	"""H4 histone family, member H"", ""histone 1, H4h"""	H4FH		9119399, 12408966	Standard	NM_003543		Approved	H4/h	uc003nhm.2	P62805	OTTHUMG00000014454	ENST00000377727.1:c.297C>T	6.37:g.26285431G>A		HNSCC(76;0.23)				HIST1H4H_ENST00000377727.1_Silent_p.Y99Y	p.Y99Y			P62805	H4_HUMAN			1	331	-			99					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377727.1	37	c.297C>T	CCDS4604.1																																																																																				0.512	HIST1H4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040119.1	NM_003543		16	88	0	0	0	1	0	16	88				
KIAA1109	84162	broad.mit.edu	37	4	123097066	123097066	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr4:123097066C>A	ENST00000264501.4	+	6	728	c.355C>A	c.(355-357)Cat>Aat	p.H119N	KIAA1109_ENST00000455637.1_Missense_Mutation_p.H119N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H119N			Q2LD37	K1109_HUMAN	KIAA1109	119					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACAGAAGCAACATGGTGAGTT	0.269																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(355-357)Cat>Aat		KIAA1109							110.0	105.0	107.0					4																	123097066		1796	4072	5868	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123097066C>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.355C>A	4.37:g.123097066C>A	ENSP00000264501:p.His119Asn					KIAA1109_ENST00000455637.1_Missense_Mutation_p.H119N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H119N	p.H119N			Q2LD37	K1109_HUMAN			6	728	+			119					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.355C>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394713	0.62066	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.22945	2.52;2.52;1.93	5.09	5.09	0.68999	.	0.193719	0.21186	U	0.078730	T	0.39358	0.1075	L	0.34521	1.04	0.54753	D	0.999984	D	0.57899	0.981	D	0.65140	0.932	T	0.05784	-1.0864	10	0.27785	T	0.31	.	18.4794	0.90806	0.0:1.0:0.0:0.0	.	119	Q2LD37	K1109_HUMAN	N	119	ENSP00000264501:H119N;ENSP00000373390:H119N;ENSP00000389925:H119N	ENSP00000264501:H119N	H	+	1	0	KIAA1109	123316516	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.273000	0.78527	2.374000	0.81015	0.573000	0.79308	CAT		0.269	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		4	41	1	0	0.014758	1	0.0154721	4	41				
NXF4	55999	broad.mit.edu	37	X	101818299	101818299	+	RNA	SNP	G	G	T			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chrX:101818299G>T	ENST00000360035.2	+	0	889					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						GAGGGTTGGTGCTGGTGCTGG	0.517																																						ENST00000360035.2																			0				endometrium(2)|lung(8)	10																																														55999							g.chrX:101818299G>T	AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101818299G>T								NR_002216.1						0	889	+									RNA	SNP	ENST00000360035.2	37																																																																																						0.517	NXF4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000095720.1			21	41	1	0	8.34094e-07	1	9.18917e-07	21	41				
UTP20	27340	broad.mit.edu	37	12	101740295	101740295	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr12:101740295T>A	ENST00000261637.4	+	38	4987	c.4813T>A	c.(4813-4815)Tct>Act	p.S1605T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1605					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGTTGTTCTGTCTTCTAAATC	0.368																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(4813-4815)Tct>Act		UTP20, small subunit (SSU) processome component, homolog (yeast)							114.0	106.0	109.0					12																	101740295		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101740295T>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.4813T>A	12.37:g.101740295T>A	ENSP00000261637:p.Ser1605Thr						p.S1605T	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			38	4987	+			1605					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.4813T>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.440298	0.43326	.	.	ENSG00000120800	ENST00000261637	T	0.21543	2.0	5.62	5.62	0.85841	Armadillo-type fold (1);	0.055867	0.64402	D	0.000001	T	0.19485	0.0468	L	0.42245	1.32	0.48341	D	0.999635	B	0.30870	0.298	B	0.25884	0.064	T	0.02533	-1.1145	10	0.30078	T	0.28	-17.9391	15.8373	0.78808	0.0:0.0:0.0:1.0	.	1605	O75691	UTP20_HUMAN	T	1605	ENSP00000261637:S1605T	ENSP00000261637:S1605T	S	+	1	0	UTP20	100264426	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	6.159000	0.71856	2.150000	0.67090	0.528000	0.53228	TCT		0.368	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		13	46	0	0	0	1	0	13	46				
TH	7054	broad.mit.edu	37	11	2189347	2189347	+	Missense_Mutation	SNP	C	C	A	rs139807727		TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr11:2189347C>A	ENST00000381178.1	-	5	661	c.643G>T	c.(643-645)Gac>Tac	p.D215Y	TH_ENST00000381175.1_Missense_Mutation_p.D211Y|TH_ENST00000352909.3_Missense_Mutation_p.D184Y|TH_ENST00000333684.5_Missense_Mutation_p.D188Y	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	215					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	AGGTCAGGGTCGAACTTGGTG	0.582																																						ENST00000381178.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11						c.(643-645)Gac>Tac		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						127.0	114.0	118.0					11																	2189347		2202	4299	6501	SO:0001583	missense	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2189347C>A	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.643G>T	11.37:g.2189347C>A	ENSP00000370571:p.Asp215Tyr					TH_ENST00000381175.1_Missense_Mutation_p.D211Y|TH_ENST00000352909.3_Missense_Mutation_p.D184Y|TH_ENST00000333684.5_Missense_Mutation_p.D188Y	p.D215Y	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	5	661	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	215					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	c.643G>T	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447402	0.63178	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99619	-6.28;-6.28;-6.28;-6.28	3.44	3.44	0.39384	Aromatic amino acid hydroxylase, C-terminal (3);	0.113912	0.56097	U	0.000023	D	0.99477	0.9814	M	0.76574	2.34	0.58432	D	0.999999	D;D;D;D;D;D	0.76494	0.996;0.993;0.993;0.999;0.999;0.998	D;P;P;D;D;D	0.79784	0.954;0.901;0.901;0.972;0.993;0.988	D	0.98162	1.0447	10	0.62326	D	0.03	-7.8942	14.2495	0.66011	0.0:1.0:0.0:0.0	.	188;188;184;184;215;211	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	Y	215;211;184;188	ENSP00000370571:D215Y;ENSP00000370567:D211Y;ENSP00000325951:D184Y;ENSP00000328814:D188Y	ENSP00000328814:D188Y	D	-	1	0	TH	2145923	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	5.665000	0.68052	1.633000	0.50488	0.205000	0.17691	GAC		0.582	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		16	99	1	0	1.15088e-07	1	1.3124e-07	16	99				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	52	0	0	0	1	0	5	52				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		7	134	0	0	0	1	0	7	134				
DIRAS2	54769	broad.mit.edu	37	9	93375576	93375576	+	Silent	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr9:93375576G>A	ENST00000375765.3	-	2	922	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	178					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.I178I(1)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTTTCCCGTCGATCTGGAGAC	0.547																																						ENST00000375765.3																			1	Substitution - coding silent(1)	p.I178I(1)	large_intestine(1)	kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						c.(532-534)atC>atT		DIRAS family, GTP-binding RAS-like 2							165.0	148.0	154.0					9																	93375576		2203	4300	6503	SO:0001819	synonymous_variant	54769				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr9:93375576G>A	AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.534C>T	9.37:g.93375576G>A							p.I178I	NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN			2	922	-			178					B3KVM2	Silent	SNP	ENST00000375765.3	37	c.534C>T	CCDS6687.1																																																																																				0.547	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1			9	89	0	0	0	1	0	9	89				
RBM47	54502	broad.mit.edu	37	4	40439977	40439977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr4:40439977C>A	ENST00000381793.2	-	3	1330	c.934G>T	c.(934-936)Gag>Tag	p.E312*	RBM47_ENST00000319592.4_Nonsense_Mutation_p.E312*|RBM47_ENST00000381795.6_Nonsense_Mutation_p.E312*|RBM47_ENST00000295971.7_Nonsense_Mutation_p.E312*|RBM47_ENST00000514014.1_Nonsense_Mutation_p.E274*|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	312	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGCGTGACCTCCAGGCACGAG	0.662																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(934-936)Gag>Tag		RNA binding motif protein 47							47.0	42.0	43.0					4																	40439977		2203	4300	6503	SO:0001587	stop_gained	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40439977C>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.934G>T	4.37:g.40439977C>A	ENSP00000371212:p.Glu312*					RBM47_ENST00000514014.1_Nonsense_Mutation_p.E274*|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Nonsense_Mutation_p.E312*|RBM47_ENST00000381793.2_Nonsense_Mutation_p.E312*|RBM47_ENST00000381795.6_Nonsense_Mutation_p.E312*	p.E312*			A0AV96	RBM47_HUMAN			4	1643	-			312			RRM 3.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Nonsense_Mutation	SNP	ENST00000381793.2	37	c.934G>T	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	43	10.086317	0.99333	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014	.	.	.	5.58	5.58	0.84498	.	0.044861	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-30.7605	19.5729	0.95428	0.0:1.0:0.0:0.0	.	.	.	.	X	312;312;312;312;274	.	ENSP00000295971:E312X	E	-	1	0	RBM47	40134734	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.431000	0.80335	2.630000	0.89119	0.462000	0.41574	GAG		0.662	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		22	148	1	0	8.10497e-08	1	9.40756e-08	22	148				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs62464331		TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732									GTF2I repeat domain containing 2 pseudogene 1																		cagagtgatttcggatgaatt	0.507																																						ENST00000425256.1																			0																																																			401375							g.chr7:72658179T>C	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658179T>C								NR_002164.1						0	1732	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	61	0	0	0	1	0	4	61				
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	lincRNA	INS	-	-	TG	rs370521196|rs376899040		TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252																																						ENST00000428624.1																			0																																																			0							g.chr1:143391935_143391936insTG																													1.37:g.143391935_143391936insTG						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	INS	ENST00000428624.1	37																																																																																						0.252	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			5	4						5	4	---	---	---	---
LOC730100	730100	broad.mit.edu	37	2	51737734	51737735	+	lincRNA	DEL	AA	AA	-	rs539748958|rs13423125	byFrequency	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr2:51737734_51737735delAA	ENST00000440698.1	+	0	694																											TCGGAAAAGGAAAAAAAAAAAG	0.49																																						ENST00000440698.1																			0																																																			730100							g.chr2:51737734_51737735delAA																													2.37:g.51737742_51737743delAA														0	694	+									RNA	DEL	ENST00000440698.1	37																																																																																						0.490	AC007682.1-001	KNOWN	mRNA_start_NF|basic	lincRNA	lincRNA	OTTHUMT00000291399.3			3	3						3	3	---	---	---	---
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-	rs571486674|rs145808953		TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1435-1437)cfs		fibroblast growth factor receptor-like 1																																				SO:0001589	frameshift_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019055_1019056delCA		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1435_1436delCA	4.37:g.1019065_1019066delCA	ENSP00000381498:p.His479fs					FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs	p.H479fs			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	2015_2016	+			479			His-rich.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Frame_Shift_Del	DEL	ENST00000398484.2	37	c.1435_1436delCA	CCDS3344.1																																																																																				0.584	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		10	38						10	38	---	---	---	---
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	lincRNA	DEL	A	A	-			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413																																						ENST00000511431.1																			0																																																			0							g.chr4:19815895delA																													4.37:g.19815895delA														0	288	+									RNA	DEL	ENST00000511431.1	37																																																																																						0.413	RP11-608O21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359397.1			5	7						5	7	---	---	---	---
NFE2L3	9603	broad.mit.edu	37	7	26224608	26224609	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr7:26224608_26224609delCT	ENST00000056233.3	+	4	1549_1550	c.1290_1291delCT	c.(1288-1293)acctctfs	p.S431fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	431					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						ACAATAATACCTCTGTCATCAA	0.406																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1288-1293)acctfs		nuclear factor, erythroid 2-like 3																																				SO:0001589	frameshift_variant	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224608_26224609delCT	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1290_1291delCT	7.37:g.26224610_26224611delCT	ENSP00000056233:p.Ser431fs						p.TS430fs	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	1549_1550	+			430					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Frame_Shift_Del	DEL	ENST00000056233.3	37	c.1290_1291delCT	CCDS5396.1																																																																																				0.406	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			8	104						8	104	---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7618686	7618686	+	Frame_Shift_Del	DEL	T	T	-	rs201694044|rs2275069	byFrequency	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr10:7618686delT	ENST00000256861.6	-	10	1786	c.1708delA	c.(1708-1710)accfs	p.T570fs	ITIH5_ENST00000397145.2_Frame_Shift_Del_p.T570fs|ITIH5_ENST00000397146.2_Frame_Shift_Del_p.T570fs|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Frame_Shift_Del_p.T356fs|ITIH5_ENST00000446830.2_Frame_Shift_Del_p.T352fs	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	570			T -> P (in dbSNP:rs2275069). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:14744536, ECO:0000269|PubMed:15498874, ECO:0000269|PubMed:17974005}.		hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATGTGGTTGGTGTCCCCCTCT	0.587																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1708-1710)ccfs		inter-alpha-trypsin inhibitor heavy chain family, member 5							52.0	52.0	52.0					10																	7618686		2203	4300	6503	SO:0001589	frameshift_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618686delT			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1708delA	10.37:g.7618686delT	ENSP00000256861:p.Thr570fs					ITIH5_ENST00000397145.2_Frame_Shift_Del_p.T570fs|ITIH5_ENST00000298441.6_Frame_Shift_Del_p.T356fs|ITIH5_ENST00000397146.2_Frame_Shift_Del_p.T570fs|ITIH5_ENST00000446830.2_Frame_Shift_Del_p.T352fs|ITIH5_ENST00000434980.1_5'UTR	p.T570fs	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			10	1786	-			570		T -> P (in dbSNP:rs2275069).			Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Frame_Shift_Del	DEL	ENST00000256861.6	37	c.1708delA																																																																																					0.587	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		8	89						8	89	---	---	---	---
WDR11	55717	broad.mit.edu	37	10	122633434	122633437	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr10:122633434_122633437delAAGT	ENST00000263461.6	+	11	1801_1802	c.1555_1556delAAGT	c.(1555-1557)aag>g	p.K519fs		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATGTGAAGTCAAGTAAGTATGTCA	0.373																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.e11+1		WD repeat domain 11																																				SO:0001630	splice_region_variant	55717					integral to membrane		g.chr10:122633434_122633437delAAGT	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1556+1AAGT>-	10.37:g.122633438_122633441delAAGT							p.519_splice	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			11	1801_1802	+			519					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Splice_Site	DEL	ENST00000263461.6	37	c.1556_splice	CCDS7619.1																																																																																				0.373	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2		Frame_Shift_Del	15	47						15	47	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1174-1176)del		carboxypeptidase X (M14 family), member 2																																				SO:0001651	inframe_deletion	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528165_125528167delCAG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1174_1176delCTG	10.37:g.125528174_125528176delCAG	ENSP00000241305:p.Leu392del					CPXM2_ENST00000368854.3_5'UTR	p.L392del	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1328_1330	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	392			Poly-Leu.		B4E3Q2	In_Frame_Del	DEL	ENST00000241305.3	37	c.1174_1176delCTG	CCDS7637.1																																																																																				0.626	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		10	428						10	428	---	---	---	---
KRTAP5-2	440021	broad.mit.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706|rs199811378|rs36134435|rs61869704|rs59506446	byFrequency	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggctccaaggggggctgtggctcctgtgggggt>ggt	p.93_103GSKGGCGSCGG>G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657																																						ENST00000412090.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(277-309)ggt>gg		keratin associated protein 5-2																																				SO:0001651	inframe_deletion	440021					keratin filament		g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	11.37:g.1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENSP00000400041:p.Gly103_Gly112del					KRTAP5-AS1_ENST00000424148.1_RNA	p.GSKGGCGSCGG93del	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	322_351	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	93			6 X 4 AA repeats of C-C-X-P.		A9JTZ1	In_Frame_Del	DEL	ENST00000412090.1	37	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	CCDS31331.1																																																																																				0.657	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		83	509						83	509	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754|rs542581403|rs199786165	byFrequency	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573																																						ENST00000256186.2																			2	Deletion - In frame(2)	p.T471delT(2)	upper_aerodigestive_tract(1)|skin(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1405-1413)cca>c		MICAL C-terminal like				494,2594		71,352,1121						-0.7	0.0		dbSNP_107	5	1955,4965		272,1411,1777	no	coding	MICALCL	NM_032867.2		343,1763,2898	A1A1,A1R,RR		28.2514,15.9974,24.4704				2449,7559				SO:0001651	inframe_deletion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316384_12316389delCTCCTA	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1406_1411delCTCCTA	11.37:g.12316384_12316389delCTCCTA	ENSP00000256186:p.Pro470_Thr471del						p.PPT469del	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1697_1702	+			469			Poly-Pro.		Q7RTP7|Q96JU6	In_Frame_Del	DEL	ENST00000256186.2	37	c.1406_1411delCTCCTA	CCDS41620.1																																																																																				0.573	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		15	9						15	9	---	---	---	---
PRMT8	56341	broad.mit.edu	37	12	3649779	3649780	+	Frame_Shift_Ins	INS	-	-	C	rs199933972|rs530556710	byFrequency	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr12:3649779_3649780insC	ENST00000382622.3	+	2	473_474	c.83_84insC	c.(82-87)agccccfs	p.SP28fs	PRMT8_ENST00000452611.2_Frame_Shift_Ins_p.SP19fs|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	28					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGGTGAACAGCCCCCCCTCCC	0.658																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(82-84)accfs		protein arginine methyltransferase 8																																				SO:0001589	frameshift_variant	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649779_3649780insC	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.90dupC	12.37:g.3649786_3649786dupC	ENSP00000372067:p.Ser28fs					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Frame_Shift_Ins_p.T19fs	p.T28fs	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	473_474	+			28					B2RDP0|Q8TBJ8	Frame_Shift_Ins	INS	ENST00000382622.3	37	c.83_84insC	CCDS8521.2																																																																																				0.658	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		7	233						7	233	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr12:122812690_122812691insT	ENST00000540338.1	-	16	3093_3094	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.S896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.S593fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.S972fs|CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.S1007fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3019-3021)ccafs		CAP-GLY domain containing linker protein 1																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812690_122812691insT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3053dupA	12.37:g.122812692_122812692dupT	ENSP00000439093:p.Ser1018fs					CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs	p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3173_3174	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1018					A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3019_3020insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		8	248						8	248	---	---	---	---
IPO4	79711	broad.mit.edu	37	14	24655611	24655611	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr14:24655611delA	ENST00000354464.6	-	10	1063	c.887delT	c.(886-888)ttcfs	p.F296fs	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	296					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CACAATGGGGAAAAGGGTGTG	0.567																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(886-888)tcfs		importin 4							133.0	149.0	144.0					14																	24655611		1972	4167	6139	SO:0001589	frameshift_variant	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24655611delA	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.887delT	14.37:g.24655611delA	ENSP00000346453:p.Phe296fs					RP11-468E2.2_ENST00000561419.1_3'UTR	p.F296fs	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	10	1063	-			296					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Frame_Shift_Del	DEL	ENST00000354464.6	37	c.887delT	CCDS9616.1																																																																																				0.567	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		7	415						7	415	---	---	---	---
ABCA17P	650655	broad.mit.edu	37	16	2475097	2475098	+	RNA	DEL	TC	TC	-	rs372790950|rs372517981		TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr16:2475097_2475098delTC	ENST00000469908.1	+	0	3047					NR_003574.1				ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene																		GGTAActctgtctctctctctc	0.559																																						ENST00000469908.1																			0																																																			650655							g.chr16:2475097_2475098delTC	DQ266102		16p13.3	2012-03-14	2010-03-12		ENSG00000238098	ENSG00000238098		"""ATP binding cassette transporters / subfamily A"""	32972	pseudogene	pseudogene						16968533	Standard	NR_003574		Approved		uc002cqc.1		OTTHUMG00000154348		16.37:g.2475107_2475108delTC								NR_003574.1						0	3047	+									RNA	DEL	ENST00000469908.1	37																																																																																						0.559	ABCA17P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334904.1	NR_003574		4	3						4	3	---	---	---	---
CYLD	1540	broad.mit.edu	37	16	50830344	50830345	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr16:50830344_50830345insGG	ENST00000427738.3	+	18	3001_3002	c.2796_2797insGG	c.(2797-2799)ggcfs	p.G933fs	CYLD_ENST00000540145.1_Frame_Shift_Ins_p.G933fs|CYLD_ENST00000569418.1_Frame_Shift_Ins_p.G930fs|CYLD_ENST00000568704.2_Frame_Shift_Ins_p.G748fs|CYLD_ENST00000398568.2_Frame_Shift_Ins_p.G930fs|RP11-327F22.4_ENST00000575917.1_RNA|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Frame_Shift_Ins_p.G933fs|CYLD_ENST00000564326.1_Frame_Shift_Ins_p.G930fs			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	933	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGAGAATCCAAGGCTGTGCACG	0.465			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(2794-2799)cagctgfs		cylindromatosis (turban tumor syndrome)																																				SO:0001589	frameshift_variant	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50830344_50830345insGG	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2797_2798dupGG	16.37:g.50830345_50830346dupGG	ENSP00000392025:p.Gly933fs					CYLD_ENST00000568704.2_Frame_Shift_Ins_p.L748fs|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000398568.2_Frame_Shift_Ins_p.L930fs|CYLD_ENST00000427738.3_Frame_Shift_Ins_p.L933fs|CYLD_ENST00000569418.1_Frame_Shift_Ins_p.L930fs|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000564326.1_Frame_Shift_Ins_p.L930fs|CYLD_ENST00000311559.9_Frame_Shift_Ins_p.L933fs	p.L933fs			Q9NQC7	CYLD_HUMAN			19	3211_3212	+		all_cancers(37;0.0156)	933					O94934|Q7L3N6|Q96EH0|Q9NZX9	Frame_Shift_Ins	INS	ENST00000427738.3	37	c.2796_2797insGG	CCDS45482.1																																																																																				0.465	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			19	54						19	54	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																						ENST00000398472.1																			4	Deletion - In frame(4)	p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)	upper_aerodigestive_tract(2)|prostate(2)	kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(253-312)cgt>cg		keratin associated protein 4-1																																				SO:0001651	inframe_deletion	85285					keratin filament		g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del						p.RPLCCQTTCHPSCGMSSCCR85del			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	742_798	-		Breast(137;0.000496)	85		Missing (in allele KAP4.10).	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	In_Frame_Del	DEL	ENST00000398472.1	37	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		182	83						182	83	---	---	---	---
MCOLN1	57192	broad.mit.edu	37	19	7592422	7592423	+	Frame_Shift_Ins	INS	-	-	C	rs145706318	byFrequency	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr19:7592422_7592423insC	ENST00000264079.6	+	5	713_714	c.588_589insC	c.(589-591)cccfs	p.P197fs		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	197					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCAGGTGGATCCCCCCGAGCG	0.639																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(586-591)gaccccfs		mucolipin 1																																				SO:0001589	frameshift_variant	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7592422_7592423insC	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.594dupC	19.37:g.7592428_7592428dupC	ENSP00000264079:p.Pro197fs						p.DP196fs	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			5	713_714	+			196					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Frame_Shift_Ins	INS	ENST00000264079.6	37	c.588_589insC	CCDS12180.1																																																																																				0.639	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		8	501						8	501	---	---	---	---
KANTR	102723508	broad.mit.edu	37	X	53142508	53142509	+	lincRNA	INS	-	-	A	rs372497626|rs79055434|rs113013303|rs79929016|rs368331815|rs145002653		TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chrX:53142508_53142509insA	ENST00000604849.1	+	0	96																											AACACACACACAAAAAAAAACC	0.356														2066	0.547285	0.2867	0.4784	3775	,	,		12410	0.4861		0.4493	False		,,,				2504	0.4223					ENST00000604849.1																			0																																																			102723508							g.chrX:53142508_53142509insA																													X.37:g.53142517_53142517dupA														0	96	+									RNA	INS	ENST00000604849.1	37																																																																																						0.356	RP11-258C19.5-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468382.1			6	7						6	7	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1771-1773)gaafs		insulin receptor substrate 4				32,3681		0,19,13,1569,524						4.0	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs						p.E591fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1848_1849	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		8	386						8	386	---	---	---	---
