#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
SNHG14	104472715	broad.mit.edu	37	15	25339261	25339261	+	RNA	SNP	G	G	A			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr15:25339261G>A	ENST00000546682.1	+	0	1110				SNHG14_ENST00000553108.1_RNA|SNORD116-23_ENST00000384645.1_RNA|SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		CGTCATCTTCGTTGAACTGAG	0.433																																						ENST00000546682.1																			0																				207.0	182.0	190.0					15																	25339261		876	1991	2867			0							g.chr15:25339261G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25339261G>A						SNHG14_ENST00000553108.1_RNA|SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	1110	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.433	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			5	198	0	0	0	1	0	5	198				
POM121L9P	29774	broad.mit.edu	37	22	24659512	24659512	+	RNA	SNP	A	A	G	rs546151905		TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr22:24659512A>G	ENST00000414583.2	+	0	3037					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCCTGGGCCATGGAGCACTC	0.473																																						ENST00000414583.2																			0																																																			0							g.chr22:24659512A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659512A>G								NR_003714.1						0	3037	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.473	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	5	0	0	0	1	0	4	5				
PLD4	122618	broad.mit.edu	37	14	105398121	105398121	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr14:105398121C>T	ENST00000392593.4	+	8	1123	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	PLD4_ENST00000553861.1_5'Flank|PLD4_ENST00000540372.1_Missense_Mutation_p.R326W	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	319					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCGCACCCGGGACCTGGA	0.652																																						ENST00000540372.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(976-978)Cgg>Tgg		phospholipase D family, member 4	Choline(DB00122)						11.0	14.0	13.0					14																	105398121		1964	4135	6099	SO:0001583	missense	122618				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	g.chr14:105398121C>T		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.955C>T	14.37:g.105398121C>T	ENSP00000376372:p.Arg319Trp					PLD4_ENST00000392593.4_Missense_Mutation_p.R319W	p.R326W			Q96BZ4	PLD4_HUMAN	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		8	1168	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	319					Q6UWD2	Missense_Mutation	SNP	ENST00000392593.4	37	c.976C>T	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	C	7.591	0.670770	0.14776	.	.	ENSG00000166428	ENST00000540372;ENST00000392593	T;T	0.22945	1.93;1.93	4.11	1.02	0.19986	Phospholipase D/viral envelope (1);	0.524838	0.18527	N	0.138608	T	0.15219	0.0367	L	0.34521	1.04	0.21627	N	0.999617	B;B	0.13594	0.007;0.008	B;B	0.06405	0.001;0.002	T	0.17776	-1.0358	10	0.36615	T	0.2	0.6994	4.2818	0.10836	0.3129:0.5086:0.0:0.1785	.	326;319	F5H2B5;Q96BZ4	.;PLD4_HUMAN	W	326;319	ENSP00000438677:R326W;ENSP00000376372:R319W	ENSP00000376372:R319W	R	+	1	2	PLD4	104469166	0.000000	0.05858	0.055000	0.19348	0.034000	0.12701	-0.726000	0.04936	-0.033000	0.13736	0.556000	0.70494	CGG		0.652	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		2	1	0	0	0	1	0	2	1				
NBPF9	400818	broad.mit.edu	37	1	144828704	144828704	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr1:144828704T>G	ENST00000281815.8	+	13	1290	c.544T>G	c.(544-546)Tac>Gac	p.Y182D	NBPF9_ENST00000338347.4_Missense_Mutation_p.Y584D|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	842	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.L657L(3)|p.Y584D(1)		NS(2)|prostate(1)	3						CTTCGCCCTTTACGTGGACAA	0.438																																						ENST00000338347.4																			4	Substitution - coding silent(3)|Substitution - Missense(1)	p.L657L(3)|p.Y584D(1)	prostate(4)	NS(2)|prostate(1)	3						c.(1750-1752)Tac>Gac		neuroblastoma breakpoint family, member 9							35.0	31.0	32.0					1																	144828704		692	1579	2271	SO:0001583	missense	400818							g.chr1:144828704T>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.544T>G	1.37:g.144828704T>G	ENSP00000281815:p.Tyr182Asp					NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y182D	p.Y584D							14	1750	+									Missense_Mutation	SNP	ENST00000281815.8	37	c.1750T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.386623|-3.386623	0.00014|0.00014	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000281815	.|T;T	.|0.04194	.|3.68;3.68	0.618|0.618	-1.24|-1.24	0.09435|0.09435	.|.	.|.	.|.	.|.	.|.	T|T	0.00384|0.00384	0.0012|0.0012	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.12013	.|0.0;0.0;0.003;0.001;0.005	.|B;B;B;B;B	.|0.15484	.|0.003;0.001;0.013;0.004;0.01	T|T	0.43114|0.43114	-0.9411|-0.9411	3|7	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|648;244;815;590;657	.|Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04	.|.;.;.;.;.	L|D	657|584;182	.|ENSP00000342975:Y584D;ENSP00000281815:Y182D	.|ENSP00000281815:Y182D	F|Y	+|+	3|1	2|0	NBPF9|NBPF9	143540061|143540061	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.866000|-0.866000	0.04245|0.04245	-1.717000|-1.717000	0.01385|0.01385	-1.365000|-1.365000	0.01206|0.01206	TTT|TAC		0.438	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		4	181	0	0	0	1	0	4	181				
POM121L9P	29774	broad.mit.edu	37	22	24659813	24659813	+	RNA	SNP	C	C	T	rs368832816		TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr22:24659813C>T	ENST00000414583.2	+	0	3338					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ATCTGCGCACCCGGAGGTGGG	0.607																																						ENST00000414583.2																			0																																																			0							g.chr22:24659813C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659813C>T								NR_003714.1						0	3338	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.607	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		2	1	0	0	0	1	0	2	1				
PDE10A	10846	broad.mit.edu	37	6	165801923	165801923	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr6:165801923G>A	ENST00000366882.1	-	18	1800	c.1646C>T	c.(1645-1647)gCg>gTg	p.A549V	PDE10A_ENST00000354448.4_Missense_Mutation_p.A549V|PDE10A_ENST00000539869.2_Missense_Mutation_p.A559V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	549					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.A549E(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	ACACAGACACGCAATCAGCAG	0.483																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			1	Substitution - Missense(1)	p.A549E(1)	lung(1)	breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1645-1647)gCg>gTg		phosphodiesterase 10A	Dipyridamole(DB00975)						126.0	111.0	116.0					6																	165801923		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165801923G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1646C>T	6.37:g.165801923G>A	ENSP00000355847:p.Ala549Val					PDE10A_ENST00000354448.4_Missense_Mutation_p.A549V|PDE10A_ENST00000539869.2_Missense_Mutation_p.A559V	p.A549V			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	18	1800	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	549					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1646C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.175595	0.94807	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.87334	-2.24;-2.24	5.89	5.89	0.94794	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.94948	0.8366	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.953	D	0.95067	0.8201	10	0.87932	D	0	.	20.2561	0.98419	0.0:0.0:1.0:0.0	.	559;549	Q9ULW9;Q9Y233	.;PDE10_HUMAN	V	549;577;559;549;548	ENSP00000355847:A549V;ENSP00000346435:A549V	ENSP00000341187:A559V	A	-	2	0	PDE10A	165721913	1.000000	0.71417	0.557000	0.28306	0.793000	0.44817	9.113000	0.94321	2.797000	0.96272	0.563000	0.77884	GCG		0.483	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			32	60	0	0	0	1	0	32	60				
ACTBL2	345651	broad.mit.edu	37	5	56778450	56778450	+	Missense_Mutation	SNP	G	G	A	rs575653475		TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr5:56778450G>A	ENST00000423391.1	-	1	186	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	29						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		AACACAGCCCGGGGGGCATCG	0.582																																						ENST00000423391.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28						c.(85-87)Cgg>Tgg		actin, beta-like 2							80.0	56.0	64.0					5																	56778450		2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56778450G>A		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.85C>T	5.37:g.56778450G>A	ENSP00000416706:p.Arg29Trp					CTD-2023N9.1_ENST00000506106.1_RNA	p.R29W	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	186	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	29					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.85C>T	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013895	0.35511	.	.	ENSG00000169067	ENST00000423391	D	0.95137	-3.62	4.96	2.08	0.27032	.	0.000000	0.64402	D	0.000019	D	0.98267	0.9426	H	0.99169	4.455	0.48288	D	0.999626	D	0.76494	0.999	D	0.74348	0.983	D	0.97697	1.0182	10	0.87932	D	0	.	12.0045	0.53251	0.0:0.0:0.5484:0.4516	.	29	Q562R1	ACTBL_HUMAN	W	29	ENSP00000416706:R29W	ENSP00000416706:R29W	R	-	1	2	ACTBL2	56814207	1.000000	0.71417	0.875000	0.34327	0.810000	0.45777	4.603000	0.61105	0.233000	0.21120	0.563000	0.77884	CGG		0.582	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		9	15	0	0	0	1	0	9	15				
BCL9L	283149	broad.mit.edu	37	11	118773329	118773329	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr11:118773329G>A	ENST00000334801.3	-	6	2087	c.1123C>T	c.(1123-1125)Ccc>Tcc	p.P375S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	375	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCAGGGCCGGGGGCACTGCTG	0.692																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(1123-1125)Ccc>Tcc		B-cell CLL/lymphoma 9-like							28.0	38.0	34.0					11																	118773329		2195	4292	6487	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773329G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1123C>T	11.37:g.118773329G>A	ENSP00000335320:p.Pro375Ser					BCL9L_ENST00000526143.1_5'UTR	p.P375S	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2087	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	375			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.1123C>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	2.366	-0.345399	0.05208	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.62364	0.03	3.9	2.03	0.26663	.	0.173615	0.27609	N	0.018614	T	0.38480	0.1042	N	0.12182	0.205	0.19300	N	0.999977	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17930	-1.0353	10	0.27082	T	0.32	-0.1785	8.5228	0.33287	0.2739:0.0:0.7261:0.0	.	370;375	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	S	375;338;375;375	ENSP00000335320:P375S	ENSP00000335320:P375S	P	-	1	0	BCL9L	118278539	0.406000	0.25344	0.033000	0.17914	0.588000	0.36517	0.363000	0.20301	0.335000	0.23614	-0.680000	0.03767	CCC		0.692	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		9	23	0	0	0	1	0	9	23				
CPA2	1358	broad.mit.edu	37	7	129912964	129912964	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr7:129912964A>C	ENST00000222481.4	+	5	488	c.433A>C	c.(433-435)Agc>Cgc	p.S145R		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	145					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGGTCTAGTGAGCAAAGTGAA	0.453																																						ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(433-435)Agc>Cgc		carboxypeptidase A2 (pancreatic)							95.0	86.0	89.0					7																	129912964		2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129912964A>C	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.433A>C	7.37:g.129912964A>C	ENSP00000222481:p.Ser145Arg						p.S145R	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			5	488	+	Melanoma(18;0.0435)		145					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.433A>C	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187279	0.57909	.	.	ENSG00000158516	ENST00000222481	T	0.09350	2.99	5.96	4.77	0.60923	Peptidase M14, carboxypeptidase A (2);	0.208075	0.49916	N	0.000127	T	0.18467	0.0443	M	0.73217	2.22	0.51233	D	0.999911	P;B	0.39717	0.684;0.191	P;B	0.46320	0.512;0.211	T	0.00601	-1.1650	10	0.59425	D	0.04	.	7.89	0.29672	0.7248:0.1406:0.0:0.1346	.	143;145	B4DDX9;P48052	.;CBPA2_HUMAN	R	145	ENSP00000222481:S145R	ENSP00000222481:S145R	S	+	1	0	CPA2	129700200	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	2.371000	0.44248	2.285000	0.76669	0.533000	0.62120	AGC		0.453	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		14	49	0	0	0	1	0	14	49				
ZNF668	79759	broad.mit.edu	37	16	31072951	31072951	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr16:31072951G>A	ENST00000538906.1	-	3	2082	c.1298C>T	c.(1297-1299)gCg>gTg	p.A433V	ZNF668_ENST00000417110.2_Missense_Mutation_p.A47T|ZNF668_ENST00000539836.3_Missense_Mutation_p.A456V|ZNF668_ENST00000300849.4_Missense_Mutation_p.A433V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A433V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A433V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A456V	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CACAGGCAGCGCCAACCCCAC	0.706																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1297-1299)gCg>gTg		zinc finger protein 668							43.0	51.0	48.0					16																	31072951		2197	4299	6496	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072951G>A		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1298C>T	16.37:g.31072951G>A	ENSP00000440149:p.Ala433Val					ZNF668_ENST00000300849.4_Missense_Mutation_p.A433V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A456V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A433V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A433V|ZNF668_ENST00000417110.2_Missense_Mutation_p.A47T|ZNF668_ENST00000539836.3_Missense_Mutation_p.A456V	p.A433V	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			3	2082	-			433					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.1298C>T	CCDS10701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.79|16.79	3.220980|3.220980	0.58560|0.58560	.|.	.|.	ENSG00000232748|ENSG00000167394	ENST00000417110|ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	.|T;T;T;T;T	.|0.08193	.|3.12;3.13;3.13;3.13;3.13	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.337163|0.337163	0.23305|0.23305	N|N	0.049631|0.049631	T|T	0.04497|0.04497	0.0123|0.0123	N|N	0.08118|0.08118	0|0	0.40920|0.40920	D|D	0.984308|0.984308	.|D	.|0.56968	.|0.978	.|B	.|0.36766	.|0.232	T|T	0.49969|0.49969	-0.8882|-0.8882	7|10	0.87932|0.49607	D|T	0|0.09	-19.6215|-19.6215	14.9766|14.9766	0.71277|0.71277	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|433	.|Q96K58	.|ZN668_HUMAN	T|V	47|456;433;433;433;433	.|ENSP00000442573:A456V;ENSP00000441349:A433V;ENSP00000440149:A433V;ENSP00000378434:A433V;ENSP00000300849:A433V	ENSP00000391989:A47T|ENSP00000300849:A433V	A|A	+|-	1|2	0|0	AC135050.1|ZNF668	30980452|30980452	0.998000|0.998000	0.40836|0.40836	0.976000|0.976000	0.42696|0.42696	0.906000|0.906000	0.53458|0.53458	3.138000|3.138000	0.50570|0.50570	2.531000|2.531000	0.85337|0.85337	0.462000|0.462000	0.41574|0.41574	GCC|GCG		0.706	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		4	83	0	0	0	1	0	4	83				
XIRP1	165904	broad.mit.edu	37	3	39228269	39228269	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr3:39228269C>T	ENST00000340369.3	-	2	2896	c.2668G>A	c.(2668-2670)Gtg>Atg	p.V890M	XIRP1_ENST00000396251.1_Missense_Mutation_p.V890M|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	890					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.V890M(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTCCTTGCCACGGAGGTCCCA	0.612																																						ENST00000340369.3																			1	Substitution - Missense(1)	p.V890M(1)	large_intestine(1)	breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(2668-2670)Gtg>Atg		xin actin-binding repeat containing 1							30.0	28.0	29.0					3																	39228269		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39228269C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2668G>A	3.37:g.39228269C>T	ENSP00000343140:p.Val890Met					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.V890M	p.V890M	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	2896	-			890					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.2668G>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	1.318	-0.600250	0.03744	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05199	3.48;3.87	4.89	1.95	0.26073	.	1.306450	0.04875	N	0.446697	T	0.04861	0.0131	N	0.19112	0.55	0.09310	N	1	B;B	0.22480	0.015;0.07	B;B	0.15870	0.007;0.014	T	0.41858	-0.9485	10	0.40728	T	0.16	.	3.9979	0.09566	0.1612:0.5482:0.0:0.2905	.	890;890	Q702N8;Q702N8-2	XIRP1_HUMAN;.	M	890	ENSP00000379550:V890M;ENSP00000343140:V890M	ENSP00000343140:V890M	V	-	1	0	XIRP1	39203273	0.000000	0.05858	0.001000	0.08648	0.140000	0.21249	-0.305000	0.08188	0.164000	0.19529	-0.119000	0.15052	GTG		0.612	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		11	9	0	0	0	1	0	11	9				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000464581.1_5'Flank			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	49	0	0	0	1	0	3	49				
PRR12	57479	broad.mit.edu	37	19	50123646	50123646	+	Silent	SNP	G	G	A	rs189353817	byFrequency	TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr19:50123646G>A	ENST00000418929.2	+	10	5547	c.5535G>A	c.(5533-5535)gcG>gcA	p.A1845A		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1024							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AAACCAGGGCGATGCGGGAGA	0.587													G|||	2	0.000399361	0.0	0.0	5008	,	,		16613	0.0		0.002	False		,,,				2504	0.0					ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(5533-5535)gcG>gcA		proline rich 12							47.0	51.0	49.0					19																	50123646		2138	4244	6382	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50123646G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5535G>A	19.37:g.50123646G>A							p.A1845A	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	10	5547	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	1024					E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.5535G>A	CCDS46143.1																																																																																				0.587	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		3	6	0	0	0	1	0	3	6				
RYR2	6262	broad.mit.edu	37	1	237617790	237617790	+	Silent	SNP	C	C	T			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr1:237617790C>T	ENST00000366574.2	+	15	1709	c.1392C>T	c.(1390-1392)caC>caT	p.H464H	RYR2_ENST00000542537.1_Silent_p.H448H|RYR2_ENST00000360064.6_Silent_p.H462H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	464					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTACTTCCACCCCCCAGATG	0.493																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(1390-1392)caC>caT		ryanodine receptor 2 (cardiac)							76.0	75.0	75.0					1																	237617790		1921	4126	6047	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237617790C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1392C>T	1.37:g.237617790C>T						RYR2_ENST00000360064.6_Silent_p.H462H|RYR2_ENST00000542537.1_Silent_p.H448H	p.H464H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		15	1709	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	464					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.1392C>T	CCDS55691.1																																																																																				0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	16	0	0	0	1	0	9	16				
DTX2	113878	broad.mit.edu	37	7	76112081	76112081	+	Silent	SNP	A	A	G			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr7:76112081A>G	ENST00000324432.5	+	5	1035	c.525A>G	c.(523-525)caA>caG	p.Q175Q	DTX2_ENST00000307569.8_Silent_p.Q175Q|DTX2_ENST00000430490.2_Silent_p.Q175Q|DTX2_ENST00000446820.2_Silent_p.Q175Q|DTX2_ENST00000446600.1_Silent_p.Q84Q|DTX2_ENST00000413936.2_Silent_p.Q175Q	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	175					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TGCGGCGCCAAGCAGGGCCGC	0.647																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(523-525)caA>caG		deltex homolog 2 (Drosophila)							51.0	48.0	49.0					7																	76112081		2203	4300	6503	SO:0001819	synonymous_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112081A>G		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.525A>G	7.37:g.76112081A>G						DTX2_ENST00000413936.2_Silent_p.Q175Q|DTX2_ENST00000307569.8_Silent_p.Q175Q|DTX2_ENST00000446820.2_Silent_p.Q175Q|DTX2_ENST00000446600.1_Silent_p.Q84Q|DTX2_ENST00000430490.2_Silent_p.Q175Q	p.Q175Q	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1035	+			175					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	c.525A>G	CCDS5587.1																																																																																				0.647	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			23	17	0	0	0	1	0	23	17				
CILP	8483	broad.mit.edu	37	15	65496880	65496880	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr15:65496880G>C	ENST00000261883.4	-	6	811	c.645C>G	c.(643-645)gaC>gaG	p.D215E		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	215					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AGGCATCACAGTCAGCATTCA	0.577																																						ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(643-645)gaC>gaG		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							55.0	53.0	54.0					15																	65496880		2201	4299	6500	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65496880G>C	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.645C>G	15.37:g.65496880G>C	ENSP00000261883:p.Asp215Glu						p.D215E	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			6	811	-			215					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.645C>G	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	G	9.429	1.084968	0.20390	.	.	ENSG00000138615	ENST00000261883	T	0.37058	1.22	5.63	1.55	0.23275	.	0.231504	0.50627	N	0.000101	T	0.24392	0.0591	L	0.49640	1.575	0.34807	D	0.737358	B	0.06786	0.001	B	0.09377	0.004	T	0.36359	-0.9751	10	0.05721	T	0.95	-9.1761	8.1266	0.31003	0.1352:0.2415:0.6233:0.0	.	215	O75339	CILP1_HUMAN	E	215	ENSP00000261883:D215E	ENSP00000261883:D215E	D	-	3	2	CILP	63283933	0.962000	0.33011	0.996000	0.52242	0.974000	0.67602	0.063000	0.14410	0.039000	0.15632	0.563000	0.77884	GAC		0.577	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		12	16	0	0	0	1	0	12	16				
TMEM181	57583	broad.mit.edu	37	6	159046168	159046168	+	Silent	SNP	G	G	A			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr6:159046168G>A	ENST00000367090.3	+	12	1409	c.1398G>A	c.(1396-1398)gcG>gcA	p.A466A	AL591025.1_ENST00000397897.1_5'Flank	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	466					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TGGTGGCAGCGGTGTACATTC	0.547																																						ENST00000367090.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22						c.(1396-1398)gcG>gcA		transmembrane protein 181							234.0	240.0	238.0					6																	159046168		2122	4231	6353	SO:0001819	synonymous_variant	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159046168G>A	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1398G>A	6.37:g.159046168G>A							p.A466A	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	12	1409	+		Breast(66;0.000776)|Ovarian(120;0.0303)	466					Q5VTU1	Silent	SNP	ENST00000367090.3	37	c.1398G>A	CCDS43520.1																																																																																				0.547	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		4	127	0	0	0	1	0	4	127				
PRICKLE2	166336	broad.mit.edu	37	3	64145666	64145666	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr3:64145666C>T	ENST00000295902.6	-	4	931	c.346G>A	c.(346-348)Ggg>Agg	p.G116R	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G172R	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	116	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTGACATTCCCGCGGCCCAAG	0.498																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(346-348)Ggg>Agg		prickle homolog 2 (Drosophila)							154.0	154.0	154.0					3																	64145666		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64145666C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.346G>A	3.37:g.64145666C>T	ENSP00000295902:p.Gly116Arg					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G172R	p.G116R	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	4	931	-		Lung NSC(201;0.136)	116			PET.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.346G>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443611	0.83993	.	.	ENSG00000163637	ENST00000295902;ENST00000498162	D;D	0.91124	-2.79;-2.79	5.74	5.74	0.90152	PET domain (2);	0.000000	0.64402	D	0.000001	D	0.97105	0.9054	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97504	1.0062	10	0.87932	D	0	-47.3813	20.2825	0.98528	0.0:1.0:0.0:0.0	.	116	Q7Z3G6	PRIC2_HUMAN	R	116	ENSP00000295902:G116R;ENSP00000419951:G116R	ENSP00000295902:G116R	G	-	1	0	PRICKLE2	64120706	1.000000	0.71417	0.992000	0.48379	0.288000	0.27193	7.776000	0.85560	2.873000	0.98535	0.561000	0.74099	GGG		0.498	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		25	63	0	0	0	1	0	25	63				
LHX8	431707	broad.mit.edu	37	1	75602926	75602926	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr1:75602926G>A	ENST00000294638.5	+	4	911	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	LHX8_ENST00000559413.1_3'UTR|LHX8_ENST00000356261.3_Missense_Mutation_p.V73M	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	83	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CCTGGAGATCGTGGACAAATA	0.647																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(247-249)Gtg>Atg		LIM homeobox 8							34.0	35.0	34.0					1																	75602926		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75602926G>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.247G>A	1.37:g.75602926G>A	ENSP00000294638:p.Val83Met					LHX8_ENST00000559413.1_3'UTR|LHX8_ENST00000356261.3_Missense_Mutation_p.V73M	p.V83M	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			4	911	+			83			LIM zinc-binding 1.		E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.247G>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766039	0.69878	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.87650	-2.28;-2.28	5.1	4.17	0.49024	Zinc finger, LIM-type (5);	0.058303	0.64402	D	0.000002	D	0.84502	0.5486	L	0.41492	1.28	0.48511	D	0.999664	D	0.63880	0.993	P	0.57502	0.822	D	0.83799	0.0235	10	0.34782	T	0.22	.	15.6303	0.76904	0.0:0.138:0.862:0.0	.	83	Q68G74	LHX8_HUMAN	M	83;73	ENSP00000294638:V83M;ENSP00000348597:V73M	ENSP00000294638:V83M	V	+	1	0	LHX8	75375514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.427000	0.52785	1.142000	0.42291	0.549000	0.68633	GTG		0.647	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		11	14	0	0	0	1	0	11	14				
NDUFAF3	25915	broad.mit.edu	37	3	49062390	49062390	+	IGR	SNP	G	G	A			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr3:49062390G>A	ENST00000326925.6	+	0	2012				DALRD3_ENST00000496568.1_5'Flank|IMPDH2_ENST00000326739.4_Missense_Mutation_p.R412C	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CCCATACCGCGATATTTCTTT	0.542																																						ENST00000326739.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(1234-1236)Cgc>Tgc		IMP (inosine 5'-monophosphate) dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						76.0	74.0	75.0					3																	49062390		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49062390G>A		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49062390G>A							p.R412C	NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1273	-			412			IMP binding (By similarity).			Missense_Mutation	SNP	ENST00000326925.6	37	c.1234C>T	CCDS2784.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.300501|4.300501	0.81136|0.81136	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000326739|ENST00000429182	D|.	0.81659|.	-1.52|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91246|0.91246	0.7241|0.7241	H|H	0.98754|0.98754	4.32|4.32	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.94772|0.94772	0.7946|0.7946	10|5	0.87932|.	D|.	0|.	-11.5071|-11.5071	19.0076|19.0076	0.92857|0.92857	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	412|.	P12268|.	IMDH2_HUMAN|.	C|L	412|367	ENSP00000321584:R412C|.	ENSP00000321584:R412C|.	R|S	-|-	1|2	0|0	IMPDH2|IMPDH2	49037394|49037394	1.000000|1.000000	0.71417|0.71417	0.690000|0.690000	0.30148|0.30148	0.993000|0.993000	0.82548|0.82548	6.149000|6.149000	0.71795|0.71795	2.489000|2.489000	0.83994|0.83994	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.542	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		15	46	0	0	0	1	0	15	46				
SORCS1	114815	broad.mit.edu	37	10	108923947	108923947	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr10:108923947G>A	ENST00000263054.6	-	1	345	c.338C>T	c.(337-339)gCg>gTg	p.A113V	SORCS1_ENST00000344440.6_Missense_Mutation_p.A113V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	113					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTCCTGATCCGCTCCGCTCCG	0.721																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(337-339)gCg>gTg		sortilin-related VPS10 domain containing receptor 1							30.0	29.0	29.0					10																	108923947		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923947G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.338C>T	10.37:g.108923947G>A	ENSP00000263054:p.Ala113Val					SORCS1_ENST00000344440.6_Missense_Mutation_p.A113V	p.A113V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	345	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	113					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.338C>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	4.169	0.029855	0.08101	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.12672	2.66;2.67	4.45	-5.19	0.02832	.	2.152390	0.02225	N	0.064323	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.26258	-1.0108	9	.	.	.	-0.0492	1.6294	0.02729	0.1644:0.2115:0.1577:0.4664	.	113;113;113;113;113	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	V	113	ENSP00000263054:A113V;ENSP00000345964:A113V	.	A	-	2	0	SORCS1	108913937	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.586000	0.05787	-0.876000	0.04017	-1.088000	0.02184	GCG		0.721	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		4	8	0	0	0	1	0	4	8				
DNAI1	27019	broad.mit.edu	37	9	34490062	34490062	+	Silent	SNP	C	C	T	rs374753293		TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr9:34490062C>T	ENST00000242317.4	+	6	612	c.441C>T	c.(439-441)gaC>gaT	p.D147D	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	147					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCGAAGAAGACGAAGAGCCCA	0.488									Kartagener syndrome																													ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(439-441)gaC>gaT		dynein, axonemal, intermediate chain 1		C		0,4406		0,0,2203	73.0	77.0	76.0		441	-10.5	0.2	9		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAI1	NM_012144.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		147/700	34490062	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34490062C>T	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.441C>T	9.37:g.34490062C>T						DNAI1_ENST00000488369.1_3'UTR	p.D147D	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	6	612	+	all_epithelial(49;0.244)		147					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Silent	SNP	ENST00000242317.4	37	c.441C>T	CCDS6557.1																																																																																				0.488	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			12	13	0	0	0	1	0	12	13				
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652																																						ENST00000391413.2																			5	Substitution - Missense(5)	p.R121K(5)	lung(2)|prostate(1)|kidney(1)|skin(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(361-363)aGa>aAa		keratin associated protein 4-11							5.0	9.0	8.0					17																	39274206		644	1533	2177	SO:0001583	missense	653240					keratin filament		g.chr17:39274206C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.362G>A	17.37:g.39274206C>T	ENSP00000375232:p.Arg121Lys						p.R121K	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	400	-		Breast(137;0.000496)	121			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.362G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.782	0.145483	0.09134	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.34	-4.84	0.03151	.	.	.	.	.	T	0.01905	0.0060	M	0.73962	2.25	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50276	-0.8847	9	0.11794	T	0.64	.	2.2508	0.04042	0.1417:0.1925:0.1396:0.5262	.	121	Q9BYQ6	KR411_HUMAN	K	121	ENSP00000375232:R121K	ENSP00000375232:R121K	R	-	2	0	KRTAP4-11	36527732	0.000000	0.05858	0.009000	0.14445	0.065000	0.16274	-1.602000	0.02079	-0.525000	0.06391	-1.218000	0.01608	AGA		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			6	26	0	0	0	1	0	6	26				
USP31	57478	broad.mit.edu	37	16	23080009	23080009	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr16:23080009C>A	ENST00000219689.7	-	16	3416	c.3417G>T	c.(3415-3417)agG>agT	p.R1139S	USP31_ENST00000567975.1_Missense_Mutation_p.R432S	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGAAAGGGCTCCTTGTGGCAG	0.592																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(3415-3417)agG>agT		ubiquitin specific peptidase 31							64.0	68.0	67.0					16																	23080009		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080009C>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3417G>T	16.37:g.23080009C>A	ENSP00000219689:p.Arg1139Ser					USP31_ENST00000567975.1_Missense_Mutation_p.R432S	p.R1139S	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3416	-			1139			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.3417G>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	8.829	0.939467	0.18281	.	.	ENSG00000103404	ENST00000219689	T	0.10288	2.89	5.8	3.81	0.43845	.	2.079960	0.02497	N	0.090052	T	0.17619	0.0423	L	0.29908	0.895	0.35535	D	0.802553	P;D	0.55605	0.799;0.972	B;P	0.54100	0.323;0.742	T	0.03773	-1.1005	10	0.33940	T	0.23	-23.2872	8.1676	0.31237	0.0:0.7494:0.0:0.2506	.	1139;432	Q70CQ4;B3KS48	UBP31_HUMAN;.	S	1139	ENSP00000219689:R1139S	ENSP00000219689:R1139S	R	-	3	2	USP31	22987510	1.000000	0.71417	0.984000	0.44739	0.752000	0.42762	1.953000	0.40352	0.739000	0.32628	-0.136000	0.14681	AGG		0.592	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		27	41	1	0	2.4375e-19	1	2.4375e-19	27	41				
DOCK9	23348	broad.mit.edu	37	13	99452702	99452702	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr13:99452702C>T	ENST00000376460.1	-	53	5878	c.5798G>A	c.(5797-5799)cGc>cAc	p.R1933H	DOCK9_ENST00000339416.2_Missense_Mutation_p.R1920H	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1934	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GACAGGGATGCGCTTCTTCAC	0.522																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(5797-5799)cGc>cAc		dedicator of cytokinesis 9							64.0	65.0	64.0					13																	99452702		2120	4242	6362	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99452702C>T	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5798G>A	13.37:g.99452702C>T	ENSP00000365643:p.Arg1933His					DOCK9_ENST00000339416.2_Missense_Mutation_p.R1920H	p.R1933H	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			53	5878	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1934			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.5798G>A	CCDS45062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.301985|5.301985	0.95601|0.95601	.|.	.|.	ENSG00000088387|ENSG00000088387	ENST00000419908|ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453	.|T;T	.|0.38240	.|1.15;1.15	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72366|0.72366	0.3451|0.3451	H|H	0.94658|0.94658	3.565|3.565	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;1.0;0.999;1.0;1.0;1.0	T|T	0.80845|0.80845	-0.1200|-0.1200	5|10	.|0.87932	.|D	.|0	.|.	19.3791|19.3791	0.94525|0.94525	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|639;552;1933;1934;589;551	.|B7Z6H5;B7Z2J2;Q9BZ29-5;Q9BZ29;B7Z6G9;F5H1Q4	.|.;.;.;DOCK9_HUMAN;.;.	T|H	337|1933;1934;1926;1911;1933;841;1920;551	.|ENSP00000365643:R1933H;ENSP00000341086:R1920H	.|ENSP00000341086:R1920H	A|R	-|-	1|2	0|0	DOCK9|DOCK9	98250703|98250703	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	7.445000|7.445000	0.80570|0.80570	2.644000|2.644000	0.89710|0.89710	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.522	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		8	8	0	0	0	1	0	8	8				
CDC5L	988	broad.mit.edu	37	6	44387289	44387289	+	Missense_Mutation	SNP	G	G	A	rs370966869		TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr6:44387289G>A	ENST00000371477.3	+	9	1495	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	399	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)	p.R399Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTCCACAGCGACAAGTTGTA	0.433																																						ENST00000371477.3																			1	Substitution - Missense(1)	p.R399Q(1)	kidney(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(1195-1197)cGa>cAa		cell division cycle 5-like		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	159.0	141.0	147.0		1196	5.6	1.0	6		147	0,8600		0,0,4300	no	missense	CDC5L	NM_001253.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	399/803	44387289	1,13005	2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44387289G>A	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1196G>A	6.37:g.44387289G>A	ENSP00000360532:p.Arg399Gln						p.R399Q	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		9	1495	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		399			Interaction with PPP1R8.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.1196G>A	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.296113	0.60086	2.27E-4	0.0	ENSG00000096401	ENST00000371477	T	0.44482	0.92	5.57	5.57	0.84162	.	0.050209	0.85682	D	0.000000	T	0.22205	0.0535	L	0.44542	1.39	0.51012	D	0.999901	B	0.25105	0.118	B	0.22753	0.041	T	0.03394	-1.1041	10	0.28530	T	0.3	-11.512	14.7206	0.69302	0.0714:0.0:0.9286:0.0	.	399	Q99459	CDC5L_HUMAN	Q	399	ENSP00000360532:R399Q	ENSP00000360532:R399Q	R	+	2	0	CDC5L	44495267	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.638000	0.67861	2.609000	0.88269	0.563000	0.77884	CGA		0.433	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			25	45	0	0	0	1	0	25	45				
SLC9A3	6550	broad.mit.edu	37	5	475733	475734	+	Frame_Shift_Ins	INS	-	-	A			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr5:475733_475734insA	ENST00000264938.3	-	15	2202_2203	c.2193_2194insT	c.(2191-2196)agtgggfs	p.G732fs	CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.5_ENST00000510714.1_5'Flank|SLC9A3_ENST00000514375.1_Frame_Shift_Ins_p.G723fs|CTD-2228K2.5_ENST00000342584.3_5'Flank|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.5_ENST00000510604.1_5'Flank|CTD-2228K2.7_ENST00000606319.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	732					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCGATCCCCCCACTCATCTCCT	0.629																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(2191-2196)agggggfs		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3																																				SO:0001589	frameshift_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:475733_475734insA		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.2194dupT	5.37:g.475734_475734dupA	ENSP00000264938:p.Gly732fs					CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Frame_Shift_Ins_p.R722fs|CTD-2228K2.7_ENST00000607286.1_RNA	p.R731fs	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		15	2202_2203	-			731					B7ZKR2|E9PF67|Q3MIW3	Frame_Shift_Ins	INS	ENST00000264938.3	37	c.2193_2194insT	CCDS3855.1																																																																																				0.629	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		2	4						2	4	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																						ENST00000244496.5																			2	Deletion - In frame(2)	p.A8_G9delAG(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(22-27)del		ribosomal RNA processing 36 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989414_42989419delGCCGGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del						p.AG14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	32_37	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.22_27delGCCGGG	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		4	7						4	7	---	---	---	---
SPIB	6689	broad.mit.edu	37	19	50931439	50931439	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr19:50931439delG	ENST00000595883.1	+	6	660	c.635delG	c.(634-636)tggfs	p.W212fs	SPIB_ENST00000270632.7_3'UTR|SPIB_ENST00000596074.1_3'UTR|CTD-2545M3.6_ENST00000599632.1_Frame_Shift_Del_p.L346fs|SPIB_ENST00000439922.2_Frame_Shift_Del_p.W121fs	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	212					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCGCGCCGCTGGGGCCAGCAG	0.672																																						ENST00000595883.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14						c.(634-636)tgfs		Spi-B transcription factor (Spi-1/PU.1 related)							25.0	25.0	25.0					19																	50931439		2189	4286	6475	SO:0001589	frameshift_variant	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50931439delG		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.635delG	19.37:g.50931439delG	ENSP00000471921:p.Trp212fs					SPIB_ENST00000270632.7_3'UTR|SPIB_ENST00000596074.1_3'UTR|SPIB_ENST00000439922.2_Frame_Shift_Del_p.W121fs	p.W212fs	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	6	660	+		all_neural(266;0.131)	212					A8K9C9|B4DUG6|Q15359	Frame_Shift_Del	DEL	ENST00000595883.1	37	c.635delG	CCDS33080.1																																																																																				0.672	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		2	4						2	4	---	---	---	---
