#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
REG1P	5969	broad.mit.edu	37	2	79365098	79365098	+	RNA	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:79365098C>T	ENST00000444841.1	-	0	160									regenerating islet-derived 1 pseudogene																		CTCACCTTGGCTCAGAGACAG	0.493																																						ENST00000444841.1																			0																																																			0							g.chr2:79365098C>T			2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79365098C>T														0	160	-									RNA	SNP	ENST00000444841.1	37																																																																																						0.493	REG1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328851.1	NR_002714		4	32	0	0	0	1	0	4	32				
FAM222A	84915	broad.mit.edu	37	12	110206636	110206636	+	Missense_Mutation	SNP	G	G	A	rs200880090	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:110206636G>A	ENST00000538780.1	+	3	1618	c.902G>A	c.(901-903)cGt>cAt	p.R301H	FAM222A_ENST00000358906.3_Missense_Mutation_p.R301H|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A-AS1_ENST00000541460.1_RNA	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	301																	CAGCCACTGCGTGCCTACAGT	0.711													G|||	2	0.000399361	0.0	0.0014	5008	,	,		14309	0.0		0.0	False		,,,				2504	0.001					ENST00000538780.1																			0											c.(901-903)cGt>cAt		family with sequence similarity 222, member A							6.0	7.0	6.0					12																	110206636		2116	4143	6259	SO:0001583	missense	84915							g.chr12:110206636G>A	AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 34"""	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.902G>A	12.37:g.110206636G>A	ENSP00000443292:p.Arg301His					FAM222A_ENST00000358906.3_Missense_Mutation_p.R301H|FAM222A-AS1_ENST00000541460.1_RNA|FAM222A-AS1_ENST00000541723.1_RNA	p.R301H	NM_032829.2	NP_116218.2	Q5U5X8	CL034_HUMAN			3	1618	+			301					Q8NCD5|Q96SP6	Missense_Mutation	SNP	ENST00000538780.1	37	c.902G>A	CCDS9133.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.75	3.466879	0.63625	.	.	ENSG00000139438	ENST00000538780;ENST00000358906	T;T	0.32023	1.47;1.47	4.63	2.62	0.31277	.	0.134538	0.49305	D	0.000146	T	0.46756	0.1409	M	0.69823	2.125	0.51233	D	0.999912	D	0.64830	0.994	P	0.56474	0.799	T	0.54214	-0.8327	10	0.72032	D	0.01	-21.5315	13.2964	0.60298	0.0:0.3029:0.6971:0.0	.	301	Q5U5X8	CL034_HUMAN	H	301	ENSP00000443292:R301H;ENSP00000351783:R301H	ENSP00000351783:R301H	R	+	2	0	C12orf34	108691019	0.988000	0.35896	0.088000	0.20740	0.680000	0.39746	5.400000	0.66320	0.932000	0.37266	0.491000	0.48974	CGT		0.711	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403175.1	NM_032829		6	7	0	0	0	1	0	6	7				
ASB9	140462	broad.mit.edu	37	X	15272961	15272961	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:15272961C>A	ENST00000380488.4	-	3	453	c.180G>T	c.(178-180)tgG>tgT	p.W60C	ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.W60C|ASB9_ENST00000546332.1_Missense_Mutation_p.W60C|ASB9_ENST00000380485.3_Missense_Mutation_p.W60C	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	60					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					TGTTCACAGCCCACCCCTGAA	0.502																																						ENST00000546332.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(178-180)tgG>tgT		ankyrin repeat and SOCS box containing 9							97.0	92.0	94.0					X																	15272961		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15272961C>A	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.180G>T	X.37:g.15272961C>A	ENSP00000369855:p.Trp60Cys					ASB9_ENST00000380483.3_Missense_Mutation_p.W60C|ASB9_ENST00000380488.4_Missense_Mutation_p.W60C|ASB9_ENST00000380485.3_Missense_Mutation_p.W60C|ASB9_ENST00000473862.1_5'UTR	p.W60C	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN			4	663	-	Hepatocellular(33;0.183)		60					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.180G>T	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648226	0.29336	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.64085	-0.03;-0.08;-0.08;-0.08	5.93	4.99	0.66335	Ankyrin repeat-containing domain (3);	0.546525	0.21448	N	0.074376	T	0.39036	0.1063	N	0.01168	-0.975	0.23227	N	0.998088	P;B;P;B	0.50943	0.879;0.194;0.94;0.437	P;B;P;B	0.52159	0.606;0.121;0.691;0.394	T	0.18587	-1.0332	9	.	.	.	-19.3766	6.9979	0.24793	0.297:0.5723:0.1307:0.0	.	60;60;60;60	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	C	60	ENSP00000369850:W60C;ENSP00000369852:W60C;ENSP00000369855:W60C;ENSP00000438943:W60C	.	W	-	3	0	ASB9	15182882	0.818000	0.29161	0.976000	0.42696	0.264000	0.26372	2.522000	0.45572	2.494000	0.84150	0.600000	0.82982	TGG		0.502	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			5	123	1	0	0.014758	1	0.0149358	5	123				
HGS	9146	broad.mit.edu	37	17	79653378	79653378	+	Silent	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:79653378C>T	ENST00000329138.4	+	3	294	c.159C>T	c.(157-159)gtC>gtT	p.V53V	ARL16_ENST00000574938.1_5'Flank|ARL16_ENST00000576135.1_5'Flank|ARL16_ENST00000573392.1_5'Flank|ARL16_ENST00000397498.4_5'Flank|ARL16_ENST00000570561.1_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	53	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AGAAGAAAGTCAACGACAAGA	0.478																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(157-159)gtC>gtT		hepatocyte growth factor-regulated tyrosine kinase substrate							135.0	113.0	120.0					17																	79653378		2202	4300	6502	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79653378C>T	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.159C>T	17.37:g.79653378C>T							p.V53V	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		3	294	+	all_neural(118;0.0878)|all_lung(278;0.23)		53			VHS.		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.159C>T	CCDS11784.1																																																																																				0.478	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		62	12	0	0	0	1	0	62	12				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		5	76	0	0	0	1	0	5	76				
TRPV4	59341	broad.mit.edu	37	12	110234489	110234489	+	Silent	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:110234489C>T	ENST00000418703.2	-	6	1267	c.1173G>A	c.(1171-1173)cgG>cgA	p.R391R	TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000541794.1_Silent_p.R344R|TRPV4_ENST00000392719.2_Silent_p.R344R|TRPV4_ENST00000261740.2_Silent_p.R391R|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000536838.1_Silent_p.R357R|TRPV4_ENST00000544971.1_Intron	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	391					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCACCTCCCGCCGGATGATGT	0.622																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1171-1173)cgG>cgA		transient receptor potential cation channel, subfamily V, member 4							82.0	71.0	75.0					12																	110234489		2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110234489C>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1173G>A	12.37:g.110234489C>T						TRPV4_ENST00000541794.1_Silent_p.R344R|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000536838.1_Silent_p.R357R|TRPV4_ENST00000392719.2_Silent_p.R344R|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000261740.2_Silent_p.R391R	p.R391R	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			6	1267	-			391					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.1173G>A	CCDS9134.1																																																																																				0.622	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		28	43	0	0	0	1	0	28	43				
ASB9	140462	broad.mit.edu	37	X	15272962	15272962	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:15272962C>A	ENST00000380488.4	-	3	452	c.179G>T	c.(178-180)tGg>tTg	p.W60L	ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.W60L|ASB9_ENST00000546332.1_Missense_Mutation_p.W60L|ASB9_ENST00000380485.3_Missense_Mutation_p.W60L	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	60					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GTTCACAGCCCACCCCTGAAG	0.502																																						ENST00000546332.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(178-180)tGg>tTg		ankyrin repeat and SOCS box containing 9							96.0	91.0	93.0					X																	15272962		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15272962C>A	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.179G>T	X.37:g.15272962C>A	ENSP00000369855:p.Trp60Leu					ASB9_ENST00000380483.3_Missense_Mutation_p.W60L|ASB9_ENST00000380488.4_Missense_Mutation_p.W60L|ASB9_ENST00000380485.3_Missense_Mutation_p.W60L|ASB9_ENST00000473862.1_5'UTR	p.W60L	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN			4	662	-	Hepatocellular(33;0.183)		60					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.179G>T	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	8.080	0.772125	0.16051	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.63417	-0.04;0.02;0.02;0.02	5.93	4.89	0.63831	Ankyrin repeat-containing domain (3);	0.546525	0.21448	N	0.074376	T	0.31670	0.0804	N	0.01424	-0.875	0.09310	N	0.999999	B;B;B;B	0.28470	0.213;0.094;0.061;0.004	B;B;B;B	0.30855	0.075;0.121;0.042;0.019	T	0.19451	-1.0305	9	.	.	.	-19.3766	9.3677	0.38234	0.0:0.7724:0.0:0.2276	.	60;60;60;60	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	L	60	ENSP00000369850:W60L;ENSP00000369852:W60L;ENSP00000369855:W60L;ENSP00000438943:W60L	.	W	-	2	0	ASB9	15182883	0.818000	0.29161	0.994000	0.49952	0.313000	0.28021	0.658000	0.24979	2.494000	0.84150	0.600000	0.82982	TGG		0.502	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			5	122	1	0	0.014758	1	0.0149358	5	122				
CDHR2	54825	broad.mit.edu	37	5	176016580	176016580	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:176016580A>G	ENST00000510636.1	+	24	3443	c.3169A>G	c.(3169-3171)Aag>Gag	p.K1057E	CDHR2_ENST00000506348.1_Missense_Mutation_p.K1057E|CDHR2_ENST00000261944.5_Missense_Mutation_p.K1057E	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1057	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTCCACACCGAAGGAGGAGGT	0.647																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(3169-3171)Aag>Gag		cadherin-related family member 2							40.0	44.0	43.0					5																	176016580		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176016580A>G	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3169A>G	5.37:g.176016580A>G	ENSP00000424565:p.Lys1057Glu					CDHR2_ENST00000261944.5_Missense_Mutation_p.K1057E|CDHR2_ENST00000506348.1_Missense_Mutation_p.K1057E	p.K1057E	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			24	3443	+			1057			Cadherin 9.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.3169A>G	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	a	6.866	0.529115	0.13127	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.54866	0.55;0.55;0.55	4.84	3.71	0.42584	Cadherin (1);	.	.	.	.	T	0.35537	0.0935	L	0.51422	1.61	0.09310	N	1	B	0.20368	0.044	B	0.19148	0.024	T	0.44019	-0.9355	9	0.02654	T	1	-28.9372	1.5785	0.02629	0.5024:0.0:0.2002:0.2973	.	1057	Q9BYE9	CDHR2_HUMAN	E	1057	ENSP00000424565:K1057E;ENSP00000261944:K1057E;ENSP00000421078:K1057E	ENSP00000261944:K1057E	K	+	1	0	CDHR2	175949186	0.991000	0.36638	0.477000	0.27303	0.002000	0.02628	3.046000	0.49846	1.821000	0.53095	0.444000	0.29173	AAG		0.647	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		16	46	0	0	0	1	0	16	46				
DUOX2	50506	broad.mit.edu	37	15	45391874	45391874	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:45391874G>A	ENST00000603300.1	-	25	3603	c.3401C>T	c.(3400-3402)gCt>gTt	p.A1134V	DUOX2_ENST00000389039.6_Missense_Mutation_p.A1134V	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1134	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGGACAACAGCAGCCATGGC	0.557																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(3400-3402)gCt>gTt		dual oxidase 2							82.0	73.0	76.0					15																	45391874		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45391874G>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3401C>T	15.37:g.45391874G>A	ENSP00000475084:p.Ala1134Val					DUOX2_ENST00000603300.1_Missense_Mutation_p.A1134V	p.A1134V			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	25	3786	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1134			Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.3401C>T	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	34	5.348185	0.95807	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.58	5.58	0.84498	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	T	0.71821	0.3385	L	0.38838	1.175	0.80722	D	1	D	0.58970	0.984	D	0.69479	0.964	T	0.70795	-0.4775	9	0.45353	T	0.12	-1.3995	18.5619	0.91102	0.0:0.0:1.0:0.0	.	1134	Q9NRD8	DUOX2_HUMAN	V	1134	.	ENSP00000373691:A1134V	A	-	2	0	DUOX2	43179166	1.000000	0.71417	0.718000	0.30602	0.972000	0.66771	9.824000	0.99380	2.647000	0.89833	0.467000	0.42956	GCT		0.557	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		38	63	0	0	0	1	0	38	63				
CHRNB4	1143	broad.mit.edu	37	15	78923451	78923451	+	Missense_Mutation	SNP	C	C	T	rs149832833		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:78923451C>T	ENST00000261751.3	-	4	437	c.326G>A	c.(325-327)cGc>cAc	p.R109H	CHRNB4_ENST00000560511.1_5'UTR|CHRNB4_ENST00000412074.2_Missense_Mutation_p.R109H|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	109					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CAACCAGATGCGCTTTGCAGG	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22259	0.0		0.0	False		,,,				2504	0.0					ENST00000261751.3																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(325-327)cGc>cAc		cholinergic receptor, nicotinic, beta 4 (neuronal)		C	HIS/ARG	2,4390	4.2+/-10.8	0,2,2194	134.0	104.0	114.0		326	5.1	0.6	15	dbSNP_134	114	0,8586		0,0,4293	no	missense	CHRNB4	NM_000750.3	29	0,2,6487	TT,TC,CC		0.0,0.0455,0.0154	benign	109/499	78923451	2,12976	2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78923451C>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.326G>A	15.37:g.78923451C>T	ENSP00000261751:p.Arg109His					CHRNB4_ENST00000412074.2_Missense_Mutation_p.R109H|CHRNB4_ENST00000560511.1_5'UTR	p.R109H	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			4	437	-			109					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.326G>A	CCDS10306.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.478	-0.881405	0.02530	4.55E-4	0.0	ENSG00000117971	ENST00000261751;ENST00000412074	T;T	0.79845	-1.31;-1.31	5.12	5.12	0.69794	Neurotransmitter-gated ion-channel ligand-binding (3);	0.127714	0.53938	D	0.000051	T	0.44664	0.1304	N	0.01352	-0.895	0.29368	N	0.864221	B;B	0.31625	0.332;0.004	B;B	0.23275	0.045;0.006	T	0.53725	-0.8398	10	0.02654	T	1	.	6.6891	0.23161	0.0:0.7795:0.0:0.2205	.	109;109	E9PHE8;P30926	.;ACHB4_HUMAN	H	109	ENSP00000261751:R109H;ENSP00000416386:R109H	ENSP00000261751:R109H	R	-	2	0	CHRNB4	76710506	0.992000	0.36948	0.597000	0.28824	0.243000	0.25628	2.447000	0.44917	2.405000	0.81733	0.650000	0.86243	CGC		0.592	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			4	104	0	0	0	1	0	4	104				
LINC01410	103352539	broad.mit.edu	37	9	66459898	66459898	+	lincRNA	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:66459898A>G	ENST00000424345.1	+	0	158				RNA5SP283_ENST00000365604.1_RNA																							cagtgtctggacattaaaatc	0.378																																						ENST00000424345.1																			0																																																			0							g.chr9:66459898A>G																													9.37:g.66459898A>G														0	158	+									RNA	SNP	ENST00000424345.1	37																																																																																						0.378	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			4	8	0	0	0	1	0	4	8				
CACNA1B	774	broad.mit.edu	37	9	140773541	140773541	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:140773541C>T	ENST00000371372.1	+	2	465	c.320C>T	c.(319-321)gCc>gTc	p.A107V	CACNA1B_ENST00000371355.4_Missense_Mutation_p.A107V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A107V|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A107V|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A107V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	107					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCATCATCGCCAACTGCATC	0.647																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(319-321)gCc>gTc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						48.0	55.0	52.0					9																	140773541		2160	4264	6424	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140773541C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.320C>T	9.37:g.140773541C>T	ENSP00000360423:p.Ala107Val					CACNA1B_ENST00000371355.4_Missense_Mutation_p.A107V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A107V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A107V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A107V|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277549.5_5'UTR	p.A107V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	2	465	+	all_cancers(76;0.166)		107					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.320C>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892060	0.72524	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	4.52	3.6	0.41247	.	0.148151	0.45126	D	0.000397	T	0.64692	0.2621	M	0.75264	2.295	0.80722	D	1	D	0.58268	0.982	P	0.53760	0.734	T	0.70443	-0.4870	10	0.72032	D	0.01	.	14.4278	0.67227	0.0:0.8515:0.1485:0.0	.	107	B1AQK6	.	V	107	ENSP00000360423:A107V;ENSP00000277551:A107V;ENSP00000360414:A107V;ENSP00000360408:A107V;ENSP00000360406:A107V	ENSP00000277551:A107V	A	+	2	0	CACNA1B	139893362	1.000000	0.71417	1.000000	0.80357	0.320000	0.28249	7.500000	0.81588	0.869000	0.35703	-0.305000	0.09177	GCC		0.647	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		8	39	0	0	0	1	0	8	39				
CLCN5	1184	broad.mit.edu	37	X	49845343	49845343	+	Silent	SNP	G	G	A	rs140312372	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:49845343G>A	ENST00000307367.2	+	5	777	c.486G>A	c.(484-486)gcG>gcA	p.A162A	CLCN5_ENST00000376091.3_Silent_p.A232A|CLCN5_ENST00000376088.3_Silent_p.A232A|CLCN5_ENST00000376108.3_Silent_p.A162A			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	162					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AGGTGTTTGCGCCTTATGCCT	0.408																																						ENST00000376088.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(694-696)gcG>gcA		chloride channel, voltage-sensitive 5		G	,,	1,3834		0,0,1,1632,570	191.0	146.0	161.0		486,696,696	-6.9	0.8	X	dbSNP_134	161	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous,coding-synonymous	CLCN5	NM_000084.2,NM_001127898.1,NM_001127899.1	,,	0,0,2,4060,2441	AA,AG,A,GG,G		0.0149,0.0261,0.0189	,,	162/747,232/817,232/817	49845343	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49845343G>A	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.486G>A	X.37:g.49845343G>A						CLCN5_ENST00000376091.3_Silent_p.A232A|CLCN5_ENST00000376108.3_Silent_p.A162A|CLCN5_ENST00000307367.2_Silent_p.A162A	p.A232A	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN			8	1337	+	Ovarian(276;0.236)		162					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Silent	SNP	ENST00000307367.2	37	c.696G>A	CCDS14328.1																																																																																				0.408	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			20	43	0	0	0	1	0	20	43				
PRAMEF10	343071	broad.mit.edu	37	1	12952782	12952782	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:12952782G>A	ENST00000235347.4	-	4	1469	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	464					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCAGATGGCCATGAGCCA	0.517																																						ENST00000235347.4																			0				NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(1390-1392)Cca>Tca		PRAME family member 10							51.0	55.0	53.0					1																	12952782		2022	4201	6223	SO:0001583	missense	343071							g.chr1:12952782G>A	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.1390C>T	1.37:g.12952782G>A	ENSP00000235347:p.Pro464Ser						p.P464S	NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1469	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	464					Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	c.1390C>T	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	g	7.435	0.639440	0.14386	.	.	ENSG00000187545	ENST00000235347	T	0.01228	5.14	1.02	-1.13	0.09775	.	9.680830	0.00166	N	0.000000	T	0.01558	0.0050	L	0.29908	0.895	0.09310	N	1	P	0.38395	0.629	B	0.40506	0.331	T	0.44982	-0.9292	10	0.16420	T	0.52	.	4.4268	0.11507	0.0:0.0:0.5329:0.4671	.	464	O60809	PRA10_HUMAN	S	464	ENSP00000235347:P464S	ENSP00000235347:P464S	P	-	1	0	PRAMEF10	12875369	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-0.399000	0.07250	-0.275000	0.09219	0.194000	0.17425	CCA		0.517	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		30	7	0	0	0	1	0	30	7				
TENM1	10178	broad.mit.edu	37	X	123838998	123838998	+	Missense_Mutation	SNP	G	G	T	rs138121113		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:123838998G>T	ENST00000371130.3	-	5	943	c.880C>A	c.(880-882)Cct>Act	p.P294T	TENM1_ENST00000422452.2_Missense_Mutation_p.P294T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	294	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CGAGGAAGAGGCCTGGGAGGG	0.522																																						ENST00000422452.2																			0											c.(880-882)Cct>Act		teneurin transmembrane protein 1							144.0	133.0	136.0					X																	123838998		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123838998G>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.880C>A	X.37:g.123838998G>T	ENSP00000360171:p.Pro294Thr					TENM1_ENST00000371130.3_Missense_Mutation_p.P294T	p.P294T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					5	943	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.880C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378137	0.82682	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.33438	1.41;1.41	5.39	5.39	0.77823	Teneurin intracellular, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.55784	0.1942	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.984;0.989	T	0.54774	-0.8243	10	0.46703	T	0.11	.	18.4435	0.90676	0.0:0.0:1.0:0.0	.	294;294;294	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	294	ENSP00000360171:P294T;ENSP00000403954:P294T	ENSP00000360171:P294T	P	-	1	0	ODZ1	123666679	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.767000	0.98960	2.384000	0.81235	0.523000	0.50628	CCT		0.522	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		10	193	1	0	0.00829132	1	0.00870588	10	193				
CAMK2B	816	broad.mit.edu	37	7	44268464	44268464	+	Missense_Mutation	SNP	C	C	T	rs374476287		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:44268464C>T	ENST00000395749.2	-	19	1475	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000395747.2_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	467					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AGGGGGCCCTCGGCTTCTGGG	0.652																																						ENST00000395749.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						c.(1399-1401)Gag>Aag		calcium/calmodulin-dependent protein kinase II beta			LYS/GLU,,,,,,,	0,4206		0,0,2103	7.0	8.0	8.0		1399,,,,,,,	4.1	1.0	7		8	1,8299		0,1,4149	no	missense,intron,intron,intron,intron,intron,intron,intron	CAMK2B	NM_001220.4,NM_172078.2,NM_172079.2,NM_172080.2,NM_172081.2,NM_172082.2,NM_172083.2,NM_172084.2	56,,,,,,,	0,1,6252	TT,TC,CC		0.012,0.0,0.0080	benign,,,,,,,	467/667,,,,,,,	44268464	1,12505	2103	4150	6253	SO:0001583	missense	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44268464C>T	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1399G>A	7.37:g.44268464C>T	ENSP00000379098:p.Glu467Lys					CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000457475.1_Intron	p.E467K	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN			19	1475	-			467					A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	ENST00000395749.2	37	c.1399G>A	CCDS5483.1	.	.	.	.	.	.	.	.	.	.	c	13.19	2.162229	0.38217	0.0	1.2E-4	ENSG00000058404	ENST00000395749	T	0.66815	-0.23	5.0	4.12	0.48240	Protein kinase-like domain (1);	.	.	.	.	T	0.42854	0.1221	N	0.19112	0.55	0.80722	D	1	B;P	0.34587	0.012;0.458	B;B	0.25614	0.007;0.062	T	0.40664	-0.9551	9	0.07482	T	0.82	.	11.7416	0.51796	0.0:0.9122:0.0:0.0878	.	467;467	Q13554;A4D2J9	KCC2B_HUMAN;.	K	467	ENSP00000379098:E467K	ENSP00000379098:E467K	E	-	1	0	CAMK2B	44234989	0.993000	0.37304	0.970000	0.41538	0.953000	0.61014	-0.130000	0.10498	2.296000	0.77279	0.558000	0.71614	GAG		0.652	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		16	27	0	0	0	1	0	16	27				
MT-ND2	4536	broad.mit.edu	37	M	1969	1969	+	5'Flank	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrM:1969G>A	ENST00000361453.3	+	0	0				MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						AGCAAAATAGTGGGAAGATTT	0.443																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:1969G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1969G>A	Exception_encountered							NR_039705.1						0	299	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.443	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		5	85	0	0	0	1	0	5	85				
ERMARD	55780	broad.mit.edu	37	6	170176736	170176736	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr6:170176736G>A	ENST00000366773.3	+	16	1739	c.1706G>A	c.(1705-1707)cGc>cAc	p.R569H	ERMARD_ENST00000366772.2_Intron|ERMARD_ENST00000392095.4_Missense_Mutation_p.R443H|ERMARD_ENST00000588451.1_Missense_Mutation_p.R433H|ERMARD_ENST00000418781.3_Intron	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	569					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											CTGCGGTCTCGCCAGCGGCAG	0.597																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(1297-1299)cGc>cAc									82.0	74.0	77.0					6																	170176736		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr6:170176736G>A	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1706G>A	6.37:g.170176736G>A	ENSP00000355735:p.Arg569His					C6orf70_ENST00000418781.3_Intron|C6orf70_ENST00000366773.3_Missense_Mutation_p.R569H|C6orf70_ENST00000366772.2_Intron|C6orf70_ENST00000392095.4_Missense_Mutation_p.R443H	p.R433H			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	15	1811	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	569					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.1298G>A	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411067	0.83340	.	.	ENSG00000130023	ENST00000366773;ENST00000392095;ENST00000366771	T;T	0.73469	-0.74;-0.75	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000006	D	0.84924	0.5580	M	0.78637	2.42	0.40002	D	0.97517	D	0.89917	1.0	D	0.73708	0.981	D	0.86282	0.1668	10	0.87932	D	0	.	19.1519	0.93493	0.0:0.0:1.0:0.0	.	569	Q5T6L9	CF070_HUMAN	H	569;443;217	ENSP00000355735:R569H;ENSP00000375945:R443H	ENSP00000355733:R217H	R	+	2	0	C6orf70	169918661	0.993000	0.37304	0.976000	0.42696	0.591000	0.36615	5.839000	0.69395	2.694000	0.91930	0.558000	0.71614	CGC		0.597	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		19	29	0	0	0	1	0	19	29				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			0							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		6	15	0	0	0	1	0	6	15				
ASB13	79754	broad.mit.edu	37	10	5693326	5693326	+	Splice_Site	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:5693326C>T	ENST00000357700.6	-	3	258	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	ASB13_ENST00000479033.1_Intron	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	78					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		CGAGCATCCACCTCACGGGAG	0.567																																						ENST00000357700.6																			0				NS(1)|endometrium(3)|lung(3)|ovary(1)	8						c.e3-1		ankyrin repeat and SOCS box containing 13							35.0	27.0	30.0					10																	5693326		2203	4299	6502	SO:0001630	splice_region_variant	79754				intracellular signal transduction		protein binding	g.chr10:5693326C>T	AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"""Ankyrin repeat domain containing"""	19765	protein-coding gene	gene with protein product		615055	"""ankyrin repeat and SOCS box-containing 13"""			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.232-1G>A	10.37:g.5693326C>T						ASB13_ENST00000479033.1_Intron	p.V78_splice	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN		GBM - Glioblastoma multiforme(2;9.59e-09)	3	258	-			78					A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Splice_Site	SNP	ENST00000357700.6	37	c.231_splice	CCDS7070.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632455	0.67015	.	.	ENSG00000196372	ENST00000357700	T	0.57907	0.37	4.31	4.31	0.51392	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.76863	0.4047	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.82717	-0.0319	10	0.66056	D	0.02	-9.3438	16.7241	0.85417	0.0:1.0:0.0:0.0	.	78;78	Q8WXK3-2;Q8WXK3	.;ASB13_HUMAN	M	78	ENSP00000350331:V78M	ENSP00000350331:V78M	V	-	1	0	ASB13	5733332	1.000000	0.71417	0.999000	0.59377	0.356000	0.29392	7.275000	0.78548	2.111000	0.64477	0.561000	0.74099	GTG		0.567	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046564.1		Missense_Mutation	14	18	0	0	0	1	0	14	18				
PCDHA4	56144	broad.mit.edu	37	5	140188315	140188315	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:140188315G>A	ENST00000530339.1	+	1	1543	c.1543G>A	c.(1543-1545)Ggc>Agc	p.G515S	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G515S|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G515S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	515	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGAGAGCGGCAAGGTGTA	0.677																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1543-1545)Ggc>Agc									72.0	75.0	74.0					5																	140188315		2203	4300	6503	SO:0001583	missense	0							g.chr5:140188315G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1543G>A	5.37:g.140188315G>A	ENSP00000435300:p.Gly515Ser					PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G515S|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G515S|PCDHA1_ENST00000394633.3_Intron	p.G515S	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1543	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1543G>A	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	28.3	4.909888	0.92107	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	D;D;D	0.91407	-2.84;-2.84;-2.84	4.18	4.18	0.49190	Cadherin (5);Cadherin-like (1);	0.000000	0.36374	U	0.002630	D	0.97105	0.9054	H	0.97758	4.07	0.48571	D	0.999671	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.991;1.0;0.999	D	0.99026	1.0819	10	0.87932	D	0	.	16.9395	0.86213	0.0:0.0:1.0:0.0	.	515;515;515	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	S	515	ENSP00000423470:G515S;ENSP00000349344:G515S;ENSP00000435300:G515S	ENSP00000349344:G515S	G	+	1	0	PCDHA4	140168499	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.045000	0.71020	2.072000	0.62099	0.580000	0.79431	GGC		0.677	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		128	96	0	0	0	1	0	128	96				
OGDHL	55753	broad.mit.edu	37	10	50955098	50955098	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:50955098G>A	ENST00000374103.4	-	9	1229	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	OGDHL_ENST00000432695.1_Missense_Mutation_p.R173C|OGDHL_ENST00000419399.1_Missense_Mutation_p.R325C	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	382					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCATCTCCACGGTAGAACTGC	0.642																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1144-1146)Cgt>Tgt		oxoglutarate dehydrogenase-like							185.0	162.0	170.0					10																	50955098		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50955098G>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1144C>T	10.37:g.50955098G>A	ENSP00000363216:p.Arg382Cys					OGDHL_ENST00000419399.1_Missense_Mutation_p.R325C|OGDHL_ENST00000432695.1_Missense_Mutation_p.R173C	p.R382C	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			9	1229	-			382					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1144C>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343451	0.41498	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.15256	2.44;2.44;3.32	5.97	5.97	0.96955	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	T	0.22859	0.0552	L	0.53561	1.675	0.80722	D	1	B;B;B	0.24823	0.043;0.024;0.112	B;B;B	0.26969	0.03;0.021;0.075	T	0.01771	-1.1277	10	0.33141	T	0.24	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	325;173;382	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	C	382;325;173	ENSP00000363216:R382C;ENSP00000401356:R325C;ENSP00000390240:R173C	ENSP00000363216:R382C	R	-	1	0	OGDHL	50625104	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	2.464000	0.45067	2.837000	0.97791	0.655000	0.94253	CGT		0.642	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		44	76	0	0	0	1	0	44	76				
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:24993374C>A	ENST00000323848.9	+	13	2012	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.542																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			2	Substitution - Missense(2)	p.P566H(2)	urinary_tract(1)|central_nervous_system(1)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(1696-1698)cCt>cAt		serine/arginine repetitive matrix 1							53.0	45.0	48.0					1																	24993374		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24993374C>A	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1697C>A	1.37:g.24993374C>A	ENSP00000326261:p.Pro566His					SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H	p.P566H	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	13	2012	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	566			Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.1697C>A	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173271	0.78452	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.56776	0.44;0.65;0.71	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000007	T	0.70613	0.3244	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.68074	-0.5505	10	0.42905	T	0.14	-3.0627	19.3453	0.94361	0.0:1.0:0.0:0.0	.	578;566	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	H	566;578;575	ENSP00000326261:P566H;ENSP00000391430:P578H;ENSP00000363510:P575H	ENSP00000326261:P566H	P	+	2	0	SRRM1	24865961	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.865000	0.62998	2.654000	0.90174	0.650000	0.86243	CCT		0.542	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		6	37	1	0	0.000442599	1	0.000476645	6	37				
IRX6	79190	broad.mit.edu	37	16	55362885	55362885	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr16:55362885C>T	ENST00000290552.7	+	5	2327	c.995C>T	c.(994-996)gCg>gTg	p.A332V	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	332					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TTCCTCTCGGCGGAGACAGGC	0.632																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(994-996)gCg>gTg		iroquois homeobox 6							42.0	43.0	43.0					16																	55362885		2197	4297	6494	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362885C>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.995C>T	16.37:g.55362885C>T	ENSP00000290552:p.Ala332Val					RP11-26L20.3_ENST00000558730.2_RNA	p.A332V	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2327	+			332					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.995C>T	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	C	7.929	0.740215	0.15642	.	.	ENSG00000159387	ENST00000290552	D	0.89939	-2.59	4.87	-0.927	0.10451	.	0.549745	0.18763	N	0.131829	T	0.76821	0.4041	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.62798	-0.6778	10	0.40728	T	0.16	-0.9676	4.5009	0.11863	0.2383:0.4966:0.0:0.2651	.	332	P78412	IRX6_HUMAN	V	332	ENSP00000290552:A332V	ENSP00000290552:A332V	A	+	2	0	IRX6	53920386	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.111000	0.15458	-0.003000	0.14444	-0.410000	0.06199	GCG		0.632	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		5	75	0	0	0	1	0	5	75				
LAMA5	3911	broad.mit.edu	37	20	60885521	60885521	+	Silent	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr20:60885521C>A	ENST00000252999.3	-	76	10620	c.10554G>T	c.(10552-10554)ctG>ctT	p.L3518L	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3518					angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCCCGCCTCCAGGGGGCCCA	0.682																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(10552-10554)ctG>ctT		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						18.0	24.0	22.0					20																	60885521		2144	4212	6356	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60885521C>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10554G>T	20.37:g.60885521C>A							p.L3518L	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		76	10620	-	Breast(26;1.57e-08)		3518					Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.10554G>T	CCDS33502.1																																																																																				0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		22	72	1	0	7.41877e-09	1	8.42131e-09	22	72				
PRRC2A	7916	broad.mit.edu	37	6	31599134	31599134	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr6:31599134G>A	ENST00000376033.2	+	16	2918	c.2684G>A	c.(2683-2685)gGg>gAg	p.G895E	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G895E	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	895	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAGCTGACGGGGCCAGAAGCA	0.667																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(2683-2685)gGg>gAg		proline-rich coiled-coil 2A							32.0	27.0	29.0					6																	31599134		1509	2709	4218	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31599134G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2684G>A	6.37:g.31599134G>A	ENSP00000365201:p.Gly895Glu					PRRC2A_ENST00000376007.4_Missense_Mutation_p.G895E	p.G895E	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	2918	+			895			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.2684G>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348501	0.24426	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01527	4.8;4.8	4.93	4.93	0.64822	.	0.000000	0.56097	D	0.000038	T	0.02119	0.0066	N	0.19112	0.55	0.44201	D	0.997028	D	0.71674	0.998	D	0.64687	0.928	T	0.63620	-0.6596	10	0.87932	D	0	-15.6032	12.7047	0.57054	0.0:0.0:0.8346:0.1653	.	895	P48634	PRC2A_HUMAN	E	895;884;895;895;120	ENSP00000365175:G895E;ENSP00000365201:G895E	ENSP00000365175:G895E	G	+	2	0	PRRC2A	31707113	0.903000	0.30736	0.997000	0.53966	0.930000	0.56654	1.503000	0.35715	2.566000	0.86566	0.561000	0.74099	GGG		0.667	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		21	28	0	0	0	1	0	21	28				
MST1L	11223	broad.mit.edu	37	1	17084755	17084755	+	RNA	SNP	T	T	C	rs140682808		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:17084755T>C	ENST00000455405.2	-	0	261							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										ACTGCTCCTTTACTAGAGACC	0.577																																						ENST00000455405.2																			0																																																			0							g.chr1:17084755T>C	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084755T>C														0	261	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.577	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		3	31	0	0	0	1	0	3	31				
MPV17	4358	broad.mit.edu	37	2	27535950	27535950	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:27535950T>C	ENST00000380044.1	-	3	152	c.97A>G	c.(97-99)Atc>Gtc	p.I33V	MPV17_ENST00000402722.1_Intron|MPV17_ENST00000405076.1_Missense_Mutation_p.I33V|MPV17_ENST00000403262.2_Missense_Mutation_p.I33V|MPV17_ENST00000405983.1_Missense_Mutation_p.I48V|MPV17_ENST00000233545.2_Missense_Mutation_p.I33V|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000402310.1_Missense_Mutation_p.I33V	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	33					cellular response to reactive oxygen species (GO:0034614)|glomerular basement membrane development (GO:0032836)|homeostatic process (GO:0042592)|inner ear development (GO:0048839)|mitochondrial genome maintenance (GO:0000002)|reactive oxygen species metabolic process (GO:0072593)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGTGAGATAATGTCACCC	0.592																																						ENST00000380044.1																			0				lung(4)	4						c.(97-99)Atc>Gtc		MpV17 mitochondrial inner membrane protein							91.0	91.0	91.0					2																	27535950		2203	4300	6503	SO:0001583	missense	4358				cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane		g.chr2:27535950T>C		CCDS1748.1	2p23.3	2008-02-05	2006-05-12		ENSG00000115204	ENSG00000115204			7224	protein-coding gene	gene with protein product	"""glomerulosclerosis"""	137960	"""MpV17 transgene, murine homolog, glomerulosclerosis"""			8281143, 16582910	Standard	XM_005264326		Approved	SYM1	uc002rjs.3	P39210	OTTHUMG00000097074	ENST00000380044.1:c.97A>G	2.37:g.27535950T>C	ENSP00000369383:p.Ile33Val					MPV17_ENST00000405076.1_Missense_Mutation_p.I33V|MPV17_ENST00000233545.2_Missense_Mutation_p.I33V|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000402310.1_Missense_Mutation_p.I33V|MPV17_ENST00000405983.1_Missense_Mutation_p.I48V|MPV17_ENST00000402722.1_Intron|MPV17_ENST00000403262.2_Missense_Mutation_p.I33V	p.I33V	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN			3	152	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		33					D6W555|Q53SY2|Q96B08	Missense_Mutation	SNP	ENST00000380044.1	37	c.97A>G	CCDS1748.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.610295	0.28712	.	.	ENSG00000115204	ENST00000402310;ENST00000233545;ENST00000380044;ENST00000405983;ENST00000405076;ENST00000403262;ENST00000428910	D;D;D;D;D;D;D	0.91407	-2.06;-2.49;-2.49;-2.45;-2.84;-2.01;-1.89	5.37	4.22	0.49857	.	0.058685	0.64402	N	0.000003	D	0.84197	0.5419	L	0.41710	1.295	0.80722	D	1	B;B	0.24043	0.002;0.096	B;B	0.25884	0.007;0.064	T	0.76780	-0.2833	10	0.25106	T	0.35	.	7.6469	0.28325	0.0:0.0931:0.0:0.9069	.	33;33	P39210;B5MC53	MPV17_HUMAN;.	V	33;33;33;48;33;33;7	ENSP00000383955:I33V;ENSP00000233545:I33V;ENSP00000369383:I33V;ENSP00000384586:I48V;ENSP00000385175:I33V;ENSP00000385671:I33V;ENSP00000405235:I7V	ENSP00000233545:I33V	I	-	1	0	MPV17	27389454	0.997000	0.39634	0.798000	0.32154	0.993000	0.82548	2.089000	0.41672	1.067000	0.40740	0.496000	0.49642	ATC		0.592	MPV17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214193.1	NM_002437		37	55	0	0	0	1	0	37	55				
ARHGAP11A	9824	broad.mit.edu	37	15	32928766	32928766	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:32928766A>G	ENST00000361627.3	+	12	2514	c.1792A>G	c.(1792-1794)Aaa>Gaa	p.K598E	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.K409E|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.K409E	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	598					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GACTTTGGTGAAAGTTCAAAA	0.373																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1792-1794)Aaa>Gaa		Rho GTPase activating protein 11A							71.0	76.0	74.0					15																	32928766		2199	4300	6499	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32928766A>G	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1792A>G	15.37:g.32928766A>G	ENSP00000355090:p.Lys598Glu					ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.K409E|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.K409E	p.K598E	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	2514	+		all_lung(180;1.3e-11)	598					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.1792A>G	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	23.7	4.450708	0.84101	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.15017	2.46	5.56	5.56	0.83823	.	0.096800	0.45126	D	0.000391	T	0.32315	0.0825	M	0.72118	2.19	0.42626	D	0.993368	D	0.62365	0.991	P	0.51016	0.656	T	0.14008	-1.0488	10	0.87932	D	0	.	15.7026	0.77552	1.0:0.0:0.0:0.0	.	598	Q6P4F7	RHGBA_HUMAN	E	598;409	ENSP00000355090:K598E	ENSP00000355090:K598E	K	+	1	0	ARHGAP11A	30716058	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	7.246000	0.78247	2.104000	0.64026	0.445000	0.29226	AAA		0.373	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		17	25	0	0	0	1	0	17	25				
CSF2RB	1439	broad.mit.edu	37	22	37325831	37325831	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr22:37325831T>C	ENST00000403662.3	+	6	922	c.700T>C	c.(700-702)Tgc>Cgc	p.C234R	CSF2RB_ENST00000262825.5_Missense_Mutation_p.C234R|CSF2RB_ENST00000406230.1_Missense_Mutation_p.C234R|CSF2RB_ENST00000536485.1_Missense_Mutation_p.C175R			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	234	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCAGAGGTTTGCTGGGACTC	0.657																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(700-702)Tgc>Cgc		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						20.0	22.0	21.0					22																	37325831		2203	4299	6502	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37325831T>C	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.700T>C	22.37:g.37325831T>C	ENSP00000384053:p.Cys234Arg					CSF2RB_ENST00000403662.3_Missense_Mutation_p.C234R|CSF2RB_ENST00000406230.1_Missense_Mutation_p.C234R|CSF2RB_ENST00000536485.1_Missense_Mutation_p.C175R	p.C234R	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			6	917	+			234					Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.700T>C	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	T	0.328	-0.957964	0.02267	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	5.37	-2.15	0.07102	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.819720	0.02677	N	0.109164	T	0.35566	0.0936	N	0.01705	-0.755	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19289	-1.0310	10	0.23891	T	0.37	-2.3012	3.5044	0.07685	0.3617:0.3104:0.0:0.3279	.	234;234	P32927-2;P32927	.;IL3RB_HUMAN	R	234;234;234;234;154;175	ENSP00000384053:C234R;ENSP00000262825:C234R;ENSP00000385271:C234R;ENSP00000393585:C154R;ENSP00000440003:C175R	ENSP00000262825:C234R	C	+	1	0	CSF2RB	35655777	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.223000	0.02962	0.055000	0.16094	-0.801000	0.03215	TGC		0.657	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		18	19	0	0	0	1	0	18	19				
STX3	6809	broad.mit.edu	37	11	59559673	59559673	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr11:59559673C>T	ENST00000337979.4	+	6	998	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	STX3_ENST00000535361.1_Missense_Mutation_p.R151W|STX3_ENST00000529177.1_Missense_Mutation_p.R151W|STX3_ENST00000437946.2_Missense_Mutation_p.R54W|STX3_ENST00000300150.7_Missense_Mutation_p.R120W	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	151					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GCGAATCCAGCGGCAGCTCGA	0.527																																						ENST00000535361.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						c.(451-453)Cgg>Tgg		syntaxin 3							120.0	101.0	107.0					11																	59559673		2201	4295	6496	SO:0001583	missense	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59559673C>T	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.451C>T	11.37:g.59559673C>T	ENSP00000338562:p.Arg151Trp					STX3_ENST00000337979.4_Missense_Mutation_p.R151W|STX3_ENST00000437946.2_Missense_Mutation_p.R54W|STX3_ENST00000529177.1_Missense_Mutation_p.R151W|STX3_ENST00000300150.7_Missense_Mutation_p.R120W	p.R151W			Q13277	STX3_HUMAN			6	998	+			151					B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	ENST00000337979.4	37	c.451C>T	CCDS7975.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937970	0.73557	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000437946;ENST00000529177;ENST00000528805	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48	5.3	3.13	0.36017	t-SNARE (1);	0.049790	0.85682	D	0.000000	T	0.64283	0.2584	M	0.93550	3.43	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.75986	-0.3124	10	0.87932	D	0	-16.78	14.1987	0.65688	0.2823:0.7177:0.0:0.0	.	54;151;151;151	E7ET77;B4DME0;Q13277-2;Q13277	.;.;.;STX3_HUMAN	W	120;151;151;54;151;103	ENSP00000300150:R120W;ENSP00000338562:R151W;ENSP00000441649:R151W;ENSP00000393536:R54W;ENSP00000433248:R151W;ENSP00000431386:R103W	ENSP00000300150:R120W	R	+	1	2	STX3	59316249	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.565000	0.45939	1.160000	0.42584	0.650000	0.86243	CGG		0.527	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		17	37	0	0	0	1	0	17	37				
CAD	790	broad.mit.edu	37	2	27449457	27449457	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:27449457G>T	ENST00000403525.1	+	13	2051	c.1907G>T	c.(1906-1908)gGt>gTt	p.G636V	CAD_ENST00000264705.4_Missense_Mutation_p.G699V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGCCACAGGTTATCCACTG	0.522																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(2095-2097)gGt>gTt		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						80.0	79.0	80.0					2																	27449457		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27449457G>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1907G>T	2.37:g.27449457G>T	ENSP00000384510:p.Gly636Val					CAD_ENST00000403525.1_Missense_Mutation_p.G636V	p.G699V	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			14	2258	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		699			ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.2096G>T		.	.	.	.	.	.	.	.	.	.	G	18.71	3.681768	0.68042	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.99567	-6.18;-6.18	5.06	5.06	0.68205	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.049855	0.85682	N	0.000000	D	0.99869	0.9938	H	0.99906	4.925	0.80722	D	1	D;B	0.89917	1.0;0.293	D;B	0.97110	1.0;0.212	D	0.96048	0.9029	10	0.87932	D	0	-2.1107	17.0413	0.86490	0.0:0.0:1.0:0.0	.	636;699	F8VPD4;P27708	.;PYR1_HUMAN	V	699;636	ENSP00000264705:G699V;ENSP00000384510:G636V	ENSP00000264705:G699V	G	+	2	0	CAD	27302961	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.305000	0.96197	2.358000	0.79984	0.485000	0.47835	GGT		0.522	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			34	43	1	0	1.45844e-13	1	1.6782e-13	34	43				
ESPNP	284729	broad.mit.edu	37	1	17029267	17029267	+	RNA	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:17029267G>A	ENST00000492551.1	-	0	1098					NR_026567.1				espin pseudogene																		TCAGCTGCCTGTGGTCCCACA	0.652																																						ENST00000492551.1																			0																																																			0							g.chr1:17029267G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17029267G>A								NR_026567.1						0	1098	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.652	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			23	164	0	0	0	1	0	23	164				
CHD7	55636	broad.mit.edu	37	8	61774882	61774882	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr8:61774882G>A	ENST00000423902.2	+	36	8437	c.7958G>A	c.(7957-7959)cGa>cAa	p.R2653Q	CHD7_ENST00000524602.1_Missense_Mutation_p.R604Q	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2653			R -> Q. {ECO:0000269|PubMed:22461308, ECO:0000269|PubMed:22462537}.		adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTCAATAAACGAAATGGGAAG	0.398																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(7957-7959)cGa>cAa		chromodomain helicase DNA binding protein 7							45.0	41.0	42.0					8																	61774882		1867	4096	5963	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61774882G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7958G>A	8.37:g.61774882G>A	ENSP00000392028:p.Arg2653Gln					CHD7_ENST00000524602.1_Missense_Mutation_p.R604Q	p.R2653Q	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		36	8437	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2653					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.7958G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215587	0.95104	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602	T;T	0.46063	0.88;0.88	5.56	5.56	0.83823	BRK domain (2);	0.000000	0.64402	D	0.000003	T	0.58366	0.2117	L	0.41236	1.265	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.56685	-0.7938	10	0.51188	T	0.08	-8.4774	19.6009	0.95561	0.0:0.0:1.0:0.0	.	2653	Q9P2D1	CHD7_HUMAN	Q	2653;2653;604	ENSP00000392028:R2653Q;ENSP00000437061:R604Q	ENSP00000307304:R2653Q	R	+	2	0	CHD7	61937436	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.865000	0.99609	2.632000	0.89209	0.650000	0.86243	CGA		0.398	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		4	14	0	0	0	1	0	4	14				
NID2	22795	broad.mit.edu	37	14	52521021	52521021	+	Silent	SNP	G	G	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr14:52521021G>T	ENST00000216286.5	-	4	785	c.786C>A	c.(784-786)atC>atA	p.I262I	NID2_ENST00000541773.1_Silent_p.I209I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	262	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACACTCCAGGGATCCCCAGGT	0.483																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(784-786)atC>atA		nidogen 2 (osteonidogen)							48.0	47.0	47.0					14																	52521021		2203	4300	6503	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52521021G>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.786C>A	14.37:g.52521021G>T						NID2_ENST00000541773.1_Silent_p.I209I	p.I262I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			4	785	-	Breast(41;0.0639)|all_epithelial(31;0.123)		262			NIDO.		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.786C>A	CCDS9706.1																																																																																				0.483	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			24	5	1	0	3.6726e-16	1	4.2847e-16	24	5				
HOXA13	3209	broad.mit.edu	37	7	27237844	27237844	+	Silent	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:27237844G>A	ENST00000222753.4	-	2	1168	c.1140C>T	c.(1138-1140)gtC>gtT	p.V380V	HOXA13_ENST00000518136.3_5'Flank|HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000421733.1_RNA|HOTTIP_ENST00000521028.2_RNA|HOTTIP_ENST00000472494.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	380					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GTTTGTTGATGACTTTTTTCT	0.423			T	NUP98	AML																																	ENST00000222753.4				Dom	yes		7	7p15-p14.2	3209	T	homeo box A13			L	NUP98		AML		0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(1138-1140)gtC>gtT		homeobox A13							199.0	206.0	204.0					7																	27237844		2203	4300	6503	SO:0001819	synonymous_variant	3209				skeletal system development	nucleus	sequence-specific DNA binding	g.chr7:27237844G>A		CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"""Homeoboxes / ANTP class : HOXL subclass"""	5102	protein-coding gene	gene with protein product		142959	"""homeo box A13"""	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.1140C>T	7.37:g.27237844G>A							p.V380V	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN			2	1168	-			380					A4D188|O43371	Silent	SNP	ENST00000222753.4	37	c.1140C>T	CCDS5412.1																																																																																				0.423	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3			71	106	0	0	0	1	0	71	106				
TTN	7273	broad.mit.edu	37	2	179411904	179411904	+	Missense_Mutation	SNP	G	G	A	rs541040798	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:179411904G>A	ENST00000591111.1	-	290	89649	c.89425C>T	c.(89425-89427)Cgt>Tgt	p.R29809C	TTN_ENST00000460472.2_Missense_Mutation_p.R22385C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R31450C|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22577C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28882C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22510C			Q8WZ42	TITIN_HUMAN	titin	29809	Fibronectin type-III 117. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R22510C(1)|p.R28880C(1)|p.R28882C(1)|p.R22577C(1)|p.R22385C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGTATTACGTTCTTTCTTC	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		18672	0.0		0.0	False		,,,				2504	0.002					ENST00000589042.1																			5	Substitution - Missense(5)	p.R22510C(1)|p.R28880C(1)|p.R28882C(1)|p.R22577C(1)|p.R22385C(1)	urinary_tract(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(94348-94350)Cgt>Tgt		titin							268.0	266.0	266.0					2																	179411904		1914	4127	6041	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411904G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89425C>T	2.37:g.179411904G>A	ENSP00000465570:p.Arg29809Cys					TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28882C|TTN_ENST00000342175.6_Missense_Mutation_p.R22577C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29809C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22510C|TTN_ENST00000460472.2_Missense_Mutation_p.R22385C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.R31450C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		340	94572	-			29809			Fibronectin type-III 129.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.94348C>T		.	.	.	.	.	.	.	.	.	.	G	14.20	2.465124	0.43839	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	6.03	5.15	0.70609	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73729	0.3624	M	0.86502	2.82	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.67231	0.95;0.95;0.95;0.95	T	0.78833	-0.2048	9	0.87932	D	0	.	12.345	0.55116	0.0:0.1285:0.7377:0.1338	.	22385;22510;22577;29809	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	28882;22385;22577;22510;22382	ENSP00000343764:R28882C;ENSP00000434586:R22385C;ENSP00000340554:R22577C;ENSP00000352154:R22510C	ENSP00000340554:R22577C	R	-	1	0	TTN	179120150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.351000	0.59398	1.549000	0.49425	0.655000	0.94253	CGT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		95	135	0	0	0	1	0	95	135				
AMER1	139285	broad.mit.edu	37	X	63411431	63411431	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:63411431T>A	ENST00000330258.3	-	2	2008	c.1736A>T	c.(1735-1737)gAg>gTg	p.E579V	AMER1_ENST00000374869.3_Missense_Mutation_p.E579V|AMER1_ENST00000403336.1_Missense_Mutation_p.E579V	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	579					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTCCTGGGCCTCAAGCTGCTC	0.612																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(1735-1737)gAg>gTg		APC membrane recruitment protein 1							55.0	53.0	54.0					X																	63411431		2203	4300	6503	SO:0001583	missense	139285							g.chrX:63411431T>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1736A>T	X.37:g.63411431T>A	ENSP00000329117:p.Glu579Val					AMER1_ENST00000403336.1_Missense_Mutation_p.E579V|AMER1_ENST00000374869.3_Missense_Mutation_p.E579V	p.E579V	NM_152424.3	NP_689637.3					2	2008	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.1736A>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	T	11.88	1.770721	0.31320	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.52295	0.75;0.67;0.75	4.68	4.68	0.58851	.	0.000000	0.56097	D	0.000035	T	0.64450	0.2599	M	0.65498	2.005	0.40785	D	0.983209	D	0.89917	1.0	D	0.83275	0.996	T	0.68390	-0.5421	10	0.66056	D	0.02	-17.0786	11.0928	0.48125	0.0:0.0:0.0:1.0	.	579	Q5JTC6	F123B_HUMAN	V	579	ENSP00000364003:E579V;ENSP00000329117:E579V;ENSP00000384722:E579V	ENSP00000329117:E579V	E	-	2	0	FAM123B	63328156	1.000000	0.71417	0.956000	0.39512	0.188000	0.23474	2.083000	0.41615	2.053000	0.61076	0.486000	0.48141	GAG		0.612	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		4	83	0	0	0	1	0	4	83				
AGXT2	64902	broad.mit.edu	37	5	35035360	35035360	+	Missense_Mutation	SNP	G	G	A	rs201921000	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:35035360G>A	ENST00000231420.6	-	5	748	c.548C>T	c.(547-549)gCg>gTg	p.A183V	AC010368.1_ENST00000390793.2_RNA	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	183					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GTTTGAGTGCGCCCTGGCCAT	0.433													G|||	5	0.000998403	0.0	0.0	5008	,	,		19356	0.004		0.0	False		,,,				2504	0.001					ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(547-549)gCg>gTg		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						134.0	144.0	140.0					5																	35035360		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35035360G>A	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.548C>T	5.37:g.35035360G>A	ENSP00000231420:p.Ala183Val						p.A183V	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	5	748	-	all_lung(31;4.52e-05)		183					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.548C>T	CCDS3908.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	14.02	2.412076	0.42817	.	.	ENSG00000113492	ENST00000231420	T	0.20881	2.04	6.06	4.2	0.49525	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.311274	0.34750	N	0.003716	T	0.08268	0.0206	N	0.21373	0.66	0.28699	N	0.904155	B;P;B	0.37663	0.046;0.604;0.262	B;B;B	0.25140	0.036;0.058;0.041	T	0.12426	-1.0548	10	0.15499	T	0.54	-17.4416	3.6635	0.08247	0.2193:0.2685:0.5122:0.0	.	91;183;183	B7Z3M3;E9PDL7;Q9BYV1	.;.;AGT2_HUMAN	V	183	ENSP00000231420:A183V	ENSP00000231420:A183V	A	-	2	0	AGXT2	35071117	0.987000	0.35691	0.980000	0.43619	0.471000	0.32888	4.062000	0.57492	2.871000	0.98454	0.655000	0.94253	GCG		0.433	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		19	80	0	0	0	1	0	19	80				
VWF	7450	broad.mit.edu	37	12	6101114	6101114	+	Silent	SNP	G	G	A	rs149847513		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:6101114G>A	ENST00000261405.5	-	38	6923	c.6669C>T	c.(6667-6669)aaC>aaT	p.N2223N		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2223	E2.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGAGCTCACGTTGCCATCAC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		22121	0.001		0.0	False		,,,				2504	0.0					ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(6667-6669)aaC>aaT		von Willebrand factor	Antihemophilic Factor(DB00025)						111.0	86.0	94.0					12																	6101114		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6101114G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6669C>T	12.37:g.6101114G>A							p.N2223N	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			38	6923	-			2223			E2.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.6669C>T	CCDS8539.1																																																																																				0.552	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		24	28	0	0	0	1	0	24	28				
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	rs371769427		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"""CLL, MDS"""																																	ENST00000291552.4				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"""CLL, MDS"""		57	Substitution - Missense(57)	p.S34F(45)|p.S34Y(12)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(100-102)tCt>tTt		U2 small nuclear RNA auxiliary factor 1		G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67.0	64.0	65.0		101,101,	5.5	1.0	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44524456G>A	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe					U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR	p.S34F	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN			2	193	-			34					Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.101C>T	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		11	30	0	0	0	1	0	11	30				
AKR1B15	441282	broad.mit.edu	37	7	134260173	134260173	+	Splice_Site	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:134260173C>A	ENST00000457545.2	+	7	775	c.515C>A	c.(514-516)gCc>gAc	p.A172D	AKR1B15_ENST00000423958.1_Splice_Site_p.A144D	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	172							oxidoreductase activity (GO:0016491)	p.A190V(1)|p.A144V(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTATGATAGGCCATGGAGGAG	0.517																																						ENST00000457545.2																			2	Substitution - Missense(2)	p.A190V(1)|p.A144V(1)	lung(2)	endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						c.e7-1		aldo-keto reductase family 1, member B15							52.0	55.0	54.0					7																	134260173		2203	4300	6503	SO:0001630	splice_region_variant	441282						oxidoreductase activity	g.chr7:134260173C>A		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.514-1C>A	7.37:g.134260173C>A						AKR1B15_ENST00000423958.1_Splice_Site_p.A144_splice	p.A172_splice	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN			7	775	+			172					C9J3V2	Splice_Site	SNP	ENST00000457545.2	37	c.513_splice	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	14.37	2.514320	0.44763	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.24908	1.83;1.83	3.49	-2.29	0.06805	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.34048	0.0884	M	0.88570	2.965	0.39754	D	0.97192	P;P	0.39847	0.56;0.691	B;P	0.45998	0.282;0.5	T	0.34976	-0.9807	9	0.87932	D	0	.	1.1217	0.01726	0.1388:0.3179:0.2727:0.2706	.	144;172	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	D	172;144	ENSP00000389289:A172D;ENSP00000397009:A144D	ENSP00000397009:A144D	A	+	2	0	AKR1B15	133910713	0.000000	0.05858	0.757000	0.31301	0.555000	0.35460	-1.980000	0.01492	-0.972000	0.03559	-0.300000	0.09419	GCC		0.517	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2		Missense_Mutation	6	48	1	0	5.9392e-07	1	6.6519e-07	6	48				
LINC01410	103352539	broad.mit.edu	37	9	66468755	66468755	+	lincRNA	SNP	T	T	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:66468755T>C	ENST00000424345.1	+	0	2322																											gtgatgcctatctgacctctc	0.493																																						ENST00000424345.1																			0																																																			0							g.chr9:66468755T>C																													9.37:g.66468755T>C														0	2322	+									RNA	SNP	ENST00000424345.1	37																																																																																						0.493	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			4	3	0	0	0	1	0	4	3				
NXF4	55999	broad.mit.edu	37	X	101804913	101804913	+	RNA	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:101804913A>G	ENST00000360035.2	+	0	21					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						GGACTCCCTCAGTGTGTTGTC	0.542																																						ENST00000360035.2																			0				endometrium(2)|lung(8)	10																																														0							g.chrX:101804913A>G	AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101804913A>G								NR_002216.1						0	21	+									RNA	SNP	ENST00000360035.2	37																																																																																						0.542	NXF4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000095720.1			27	54	0	0	0	1	0	27	54				
TP53	7157	broad.mit.edu	37	17	7579389	7579389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:7579389G>A	ENST00000269305.4	-	4	487	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	TP53_ENST00000413465.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q100*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	100	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		Q -> R (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q100*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TAGGTTTTCTGGGAAGGGACA	0.652		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		30	Substitution - Nonsense(12)|Deletion - Frameshift(10)|Whole gene deletion(8)	p.Q100*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)	upper_aerodigestive_tract(6)|lung(4)|ovary(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|adrenal_gland(2)|central_nervous_system(2)|skin(2)|stomach(1)|breast(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(298-300)Cag>Tag	Other conserved DNA damage response genes	tumor protein p53							50.0	52.0	51.0					17																	7579389		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579389G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.298C>T	17.37:g.7579389G>A	ENSP00000269305:p.Gln100*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q100*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q100*	p.Q100*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	430	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	100		Q -> R (in a sporadic cancer; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.298C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710371	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.75	3.76	0.43208	.	0.315497	0.32386	N	0.006178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-9.4011	8.082	0.30750	0.0:0.1753:0.6433:0.1814	.	.	.	.	X	100	.	ENSP00000269305:Q100X	Q	-	1	0	TP53	7520114	0.357000	0.24938	0.127000	0.21898	0.611000	0.37282	3.263000	0.51546	1.327000	0.45338	0.655000	0.94253	CAG		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		71	24	0	0	0	1	0	71	24				
NBEAL2	23218	broad.mit.edu	37	3	47050735	47050735	+	Silent	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr3:47050735G>A	ENST00000450053.3	+	54	8369	c.8190G>A	c.(8188-8190)aaG>aaA	p.K2730K	NBEAL2_ENST00000383740.2_Silent_p.K979K|NBEAL2_ENST00000292309.5_Silent_p.K2546K	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2730					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCGCGCGGAAGCTGTGGCGGT	0.697																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(8188-8190)aaG>aaA		neurobeachin-like 2							12.0	16.0	15.0					3																	47050735		2003	4144	6147	SO:0001819	synonymous_variant	23218						binding	g.chr3:47050735G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.8190G>A	3.37:g.47050735G>A						NBEAL2_ENST00000383740.2_Silent_p.K979K|NBEAL2_ENST00000292309.5_Silent_p.K2546K	p.K2730K	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	54	8369	+		Acute lymphoblastic leukemia(5;0.0534)	2730					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.8190G>A	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.72|11.72	1.721413|1.721413	0.30503|0.30503	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000443829|ENST00000416683	.|.	.|.	.|.	4.98|4.98	1.93|1.93	0.25924|0.25924	.|.	.|.	.|.	.|.	.|.	T|T	0.45135|0.45135	0.1327|0.1327	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.32428|0.32428	-0.9907|-0.9907	4|4	.|.	.|.	.|.	.|.	3.6735|3.6735	0.08283|0.08283	0.281:0.0:0.5427:0.1763|0.281:0.0:0.5427:0.1763	.|.	.|.	.|.	.|.	T|N	1069|2018	.|.	.|.	A|S	+|+	1|2	0|0	NBEAL2|NBEAL2	47025739|47025739	0.952000|0.952000	0.32445|0.32445	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.066000|1.066000	0.30604|0.30604	1.086000|1.086000	0.41228|0.41228	0.561000|0.561000	0.74099|0.74099	GCT|AGC		0.697	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		6	5	0	0	0	1	0	6	5				
GCC2	9648	broad.mit.edu	37	2	109087815	109087815	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:109087815C>G	ENST00000309863.6	+	6	2744	c.2030C>G	c.(2029-2031)tCt>tGt	p.S677C		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	677					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAGTTCTCTCTGAAGACAAA	0.333																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2029-2031)tCt>tGt		GRIP and coiled-coil domain containing 2							94.0	114.0	107.0					2																	109087815		2202	4298	6500	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109087815C>G	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2030C>G	2.37:g.109087815C>G	ENSP00000307939:p.Ser677Cys						p.S677C	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			6	2744	+			677					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.2030C>G	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	C	0.189	-1.054751	0.01965	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.33216	1.42	5.62	2.78	0.32641	.	0.801903	0.11797	N	0.528527	T	0.26159	0.0638	L	0.57536	1.79	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.36817	-0.9732	10	0.66056	D	0.02	.	1.7594	0.02989	0.3133:0.3705:0.1926:0.1236	.	677	Q8IWJ2	GCC2_HUMAN	C	677;640;422	ENSP00000307939:S677C	ENSP00000307939:S677C	S	+	2	0	GCC2	108454247	0.000000	0.05858	0.040000	0.18447	0.069000	0.16628	-0.032000	0.12266	0.808000	0.34231	0.650000	0.86243	TCT		0.333	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		57	99	0	0	0	1	0	57	99				
LINC01410	103352539	broad.mit.edu	37	9	66458198	66458198	+	lincRNA	SNP	C	C	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:66458198C>G	ENST00000424345.1	+	0	67				RNA5SP283_ENST00000365604.1_RNA																							taaccagtcccgaccctgctt	0.622																																						ENST00000424345.1																			0																																																			0							g.chr9:66458198C>G																													9.37:g.66458198C>G						RNA5SP283_ENST00000365604.1_RNA								0	67	+									RNA	SNP	ENST00000424345.1	37																																																																																						0.622	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			3	11	0	0	0	1	0	3	11				
PRSS35	167681	broad.mit.edu	37	6	84234378	84234378	+	Silent	SNP	C	C	T	rs370535612		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr6:84234378C>T	ENST00000369700.3	+	2	1395	c.1218C>T	c.(1216-1218)aaC>aaT	p.N406N	PRSS35_ENST00000536636.1_Silent_p.N406N	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	406	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TTCACGGGAACGATGCCAATT	0.498																																						ENST00000536636.1																			0				breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1216-1218)aaC>aaT		protease, serine, 35		C	,	0,4406		0,0,2203	57.0	40.0	46.0		1218,1218	0.3	0.0	6		46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PRSS35	NM_001170423.1,NM_153362.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	406/414,406/414	84234378	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84234378C>T	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1218C>T	6.37:g.84234378C>T						PRSS35_ENST00000369700.3_Silent_p.N406N	p.N406N	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	3	1563	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	406			Peptidase S1.		A8K7B3|Q9BQP6	Silent	SNP	ENST00000369700.3	37	c.1218C>T	CCDS4999.1																																																																																				0.498	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		21	24	0	0	0	1	0	21	24				
ZER1	10444	broad.mit.edu	37	9	131515492	131515492	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:131515492C>A	ENST00000291900.2	-	4	1103	c.697G>T	c.(697-699)Gac>Tac	p.D233Y	ZER1_ENST00000494461.1_5'Flank	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	233					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TCGGACAGGTCCATGTTGTAG	0.642																																						ENST00000291900.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(697-699)Gac>Tac		zyg-11 related, cell cycle regulator							44.0	28.0	34.0					9																	131515492		2203	4297	6500	SO:0001583	missense	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131515492C>A	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.697G>T	9.37:g.131515492C>A	ENSP00000291900:p.Asp233Tyr						p.D233Y	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN			4	1103	-			233					O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	c.697G>T	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108932	0.77096	.	.	ENSG00000160445	ENST00000291900	T	0.17691	2.26	5.08	5.08	0.68730	.	0.097634	0.64402	D	0.000002	T	0.21387	0.0515	L	0.36672	1.1	0.58432	D	0.999999	D	0.55385	0.971	P	0.47299	0.543	T	0.00735	-1.1588	10	0.62326	D	0.03	-43.3254	17.6438	0.88144	0.0:1.0:0.0:0.0	.	233	Q7Z7L7	ZER1_HUMAN	Y	233	ENSP00000291900:D233Y	ENSP00000291900:D233Y	D	-	1	0	ZER1	130555313	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	5.411000	0.66386	2.652000	0.90054	0.655000	0.94253	GAC		0.642	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		11	3	1	0	3.07112e-06	1	3.39439e-06	11	3				
MAGEC1	9947	broad.mit.edu	37	X	140993983	140993983	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:140993983C>A	ENST00000285879.4	+	4	1079	c.793C>A	c.(793-795)Cag>Aag	p.Q265K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	265								p.Q265K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTTTTGCCCAGTCTTCTCT	0.488										HNSCC(15;0.026)																												ENST00000285879.4																			1	Substitution - Missense(1)	p.Q265K(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(793-795)Cag>Aag		melanoma antigen family C, 1							79.0	62.0	68.0					X																	140993983		2081	3795	5876	SO:0001583	missense	9947						protein binding	g.chrX:140993983C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.793C>A	X.37:g.140993983C>A	ENSP00000285879:p.Gln265Lys	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.Q265K	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1079	+	Acute lymphoblastic leukemia(192;6.56e-05)		265					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.793C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	N	0.134	-1.109795	0.01813	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.17054	4.45;2.3	.	.	.	.	.	.	.	.	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.32534	-0.9903	8	0.72032	D	0.01	.	2.6709	0.05067	0.0:0.517:0.0:0.483	.	265	O60732	MAGC1_HUMAN	K	265;67;66	ENSP00000285879:Q265K;ENSP00000359542:Q67K	ENSP00000285879:Q265K	Q	+	1	0	MAGEC1	140821649	0.001000	0.12720	0.018000	0.16275	0.018000	0.09664	0.088000	0.14979	0.148000	0.19059	0.150000	0.16122	CAG		0.488	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		5	164	1	0	0.014758	1	0.0149358	5	164				
SLITRK2	84631	broad.mit.edu	37	X	144906237	144906237	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:144906237A>G	ENST00000370490.1	+	1	6549	c.2294A>G	c.(2293-2295)gAa>gGa	p.E765G	SLITRK2_ENST00000447897.2_Missense_Mutation_p.E765G|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E765G			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	765					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CGAGTCAAGGAACTTCCCAGC	0.478																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(2293-2295)gAa>gGa		SLIT and NTRK-like family, member 2							157.0	142.0	147.0					X																	144906237		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144906237A>G	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2294A>G	X.37:g.144906237A>G	ENSP00000359521:p.Glu765Gly					SLITRK2_ENST00000447897.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E765G	p.E765G			Q9H156	SLIK2_HUMAN			1	6549	+	Acute lymphoblastic leukemia(192;6.56e-05)		765					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.2294A>G	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.680738	0.47886	.	.	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.52	5.52	0.82312	.	0.117591	0.56097	D	0.000024	T	0.45736	0.1357	L	0.44542	1.39	0.50313	D	0.999864	B	0.09022	0.002	B	0.06405	0.002	T	0.38457	-0.9660	10	0.51188	T	0.08	-9.3067	12.4949	0.55923	1.0:0.0:0.0:0.0	.	765	Q9H156	SLIK2_HUMAN	G	765	ENSP00000411681:E765G;ENSP00000359521:E765G;ENSP00000397015:E765G;ENSP00000407347:E765G;ENSP00000412010:E765G	ENSP00000359521:E765G	E	+	2	0	SLITRK2	144713929	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	7.161000	0.77505	1.856000	0.53863	0.486000	0.48141	GAA		0.478	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		20	267	0	0	0	1	0	20	267				
LPP	4026	broad.mit.edu	37	3	188327559	188327559	+	Missense_Mutation	SNP	C	C	G	rs200693649		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr3:188327559C>G	ENST00000312675.4	+	6	1286	c.1040C>G	c.(1039-1041)cCa>cGa	p.P347R	LPP_ENST00000448637.1_Missense_Mutation_p.P347R|LPP_ENST00000543006.1_Missense_Mutation_p.P347R|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	347	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GGGATGTATCCAGTCACTGGT	0.522			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1039-1041)cCa>cGa		LIM domain containing preferred translocation partner in lipoma							42.0	42.0	42.0					3																	188327559		2203	4298	6501	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188327559C>G	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1040C>G	3.37:g.188327559C>G	ENSP00000318089:p.Pro347Arg					LPP_ENST00000543006.1_Missense_Mutation_p.P347R|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Missense_Mutation_p.P347R	p.P347R	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	6	1286	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	347			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.1040C>G	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	C	5.808	0.333335	0.11013	.	.	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.54675	1.91;0.56;0.56;1.5	6.17	3.12	0.35913	.	0.583430	0.17202	N	0.183091	T	0.45696	0.1355	L	0.47716	1.5	0.21355	N	0.999715	B;B	0.28584	0.216;0.121	B;B	0.34242	0.178;0.075	T	0.30650	-0.9971	10	0.10902	T	0.67	.	13.6839	0.62504	0.4634:0.5366:0.0:0.0	.	347;347	C9JUT4;Q93052	.;LPP_HUMAN	R	347;347;347;184	ENSP00000393602:P347R;ENSP00000318089:P347R;ENSP00000438891:P347R;ENSP00000393008:P184R	ENSP00000318089:P347R	P	+	2	0	LPP	189810253	0.570000	0.26651	0.580000	0.28601	0.288000	0.27193	0.978000	0.29488	1.584000	0.49913	0.655000	0.94253	CCA		0.522	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		33	56	0	0	0	1	0	33	56				
SRRM1	10250	broad.mit.edu	37	1	24993386	24993386	+	Missense_Mutation	SNP	G	G	T	rs78787676		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:24993386G>T	ENST00000323848.9	+	13	2024	c.1709G>T	c.(1708-1710)cGc>cTc	p.R570L	snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	570	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R570L(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCGACGGCGCAGGACTCCC	0.557																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			2	Substitution - Missense(2)	p.R570L(2)	urinary_tract(1)|central_nervous_system(1)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(1708-1710)cGc>cTc		serine/arginine repetitive matrix 1							54.0	45.0	48.0					1																	24993386		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24993386G>T	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1709G>T	1.37:g.24993386G>T	ENSP00000326261:p.Arg570Leu					SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L	p.R570L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	13	2024	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	570			Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.1709G>T	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693027	0.88735	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.34667	1.35;1.35;1.35	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000007	T	0.58104	0.2099	L	0.54323	1.7	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.76575	0.988;0.972	T	0.57318	-0.7832	10	0.62326	D	0.03	-1.2563	19.3453	0.94361	0.0:0.0:1.0:0.0	.	582;570	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	L	570;582;579	ENSP00000326261:R570L;ENSP00000391430:R582L;ENSP00000363510:R579L	ENSP00000326261:R570L	R	+	2	0	SRRM1	24865973	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.773000	0.85462	2.654000	0.90174	0.650000	0.86243	CGC		0.557	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		5	36	1	0	8.12818e-05	1	8.86711e-05	5	36				
ZSWIM4	65249	broad.mit.edu	37	19	13941049	13941049	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr19:13941049T>C	ENST00000254323.2	+	13	2344	c.2155T>C	c.(2155-2157)Ttc>Ctc	p.F719L	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.F553L	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	719							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GTATTCCTTATTCACACCAGT	0.602																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2155-2157)Ttc>Ctc		zinc finger, SWIM-type containing 4							72.0	71.0	71.0					19																	13941049		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13941049T>C	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2155T>C	19.37:g.13941049T>C	ENSP00000254323:p.Phe719Leu					ZSWIM4_ENST00000440752.2_Missense_Mutation_p.F553L	p.F719L	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2344	+			719						Missense_Mutation	SNP	ENST00000254323.2	37	c.2155T>C	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.340244	0.60963	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.49432	0.83;0.78	4.16	4.16	0.48862	.	0.000000	0.64402	D	0.000009	T	0.65249	0.2673	M	0.72353	2.195	0.51012	D	0.999901	D;D	0.76494	0.99;0.999	D;D	0.83275	0.979;0.996	T	0.68507	-0.5390	10	0.72032	D	0.01	-14.3196	11.1426	0.48411	0.0:0.0:0.0:1.0	.	553;719	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	L	719;553	ENSP00000254323:F719L;ENSP00000405278:F553L	ENSP00000254323:F719L	F	+	1	0	ZSWIM4	13802049	1.000000	0.71417	0.484000	0.27391	0.406000	0.30931	7.704000	0.84595	1.513000	0.48852	0.402000	0.26972	TTC		0.602	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		34	11	0	0	0	1	0	34	11				
MAGEB1	4112	broad.mit.edu	37	X	30268692	30268692	+	Missense_Mutation	SNP	G	G	T	rs2856741		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:30268692G>T	ENST00000378981.3	+	4	403	c.82G>T	c.(82-84)Gct>Tct	p.A28S	MAGEB1_ENST00000397550.1_Missense_Mutation_p.A28S|MAGEB1_ENST00000397548.2_Missense_Mutation_p.A28S	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	28				A -> R (in Ref. 1; CAA57889). {ECO:0000305}.						NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TCTCAAGGTTGCTCACGCCAC	0.602																																						ENST00000378981.3																			0				NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(82-84)Gct>Tct		melanoma antigen family B, 1							46.0	34.0	38.0					X																	30268692		2202	4299	6501	SO:0001583	missense	4112							g.chrX:30268692G>T		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.82G>T	X.37:g.30268692G>T	ENSP00000368264:p.Ala28Ser					MAGEB1_ENST00000397548.2_Missense_Mutation_p.A28S|MAGEB1_ENST00000397550.1_Missense_Mutation_p.A28S	p.A28S	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN			4	403	+			28	A -> R (in Ref. 1; CAA57889).				B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.82G>T	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930978	0.52866	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.06608	3.28;3.28;3.28	3.99	2.16	0.27623	Melanoma associated antigen, MAGE, N-terminal (1);	0.488839	0.19491	N	0.112996	T	0.20659	0.0497	M	0.88031	2.925	0.09310	N	0.999998	D	0.58970	0.984	P	0.61070	0.883	T	0.06092	-1.0846	10	0.56958	D	0.05	.	4.7215	0.12920	0.1246:0.2178:0.6577:0.0	.	28	P43366	MAGB1_HUMAN	S	28	ENSP00000368264:A28S;ENSP00000380683:A28S;ENSP00000380681:A28S	ENSP00000368264:A28S	A	+	1	0	MAGEB1	30178613	0.378000	0.25114	0.227000	0.23927	0.006000	0.05464	0.777000	0.26718	0.443000	0.26582	0.600000	0.82982	GCT		0.602	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		7	24	1	0	0.00198382	1	0.00210938	7	24				
CARD11	84433	broad.mit.edu	37	7	2953022	2953022	+	Missense_Mutation	SNP	C	C	T	rs141681466		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:2953022C>T	ENST00000396946.4	-	22	3321	c.2918G>A	c.(2917-2919)cGc>cAc	p.R973H		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	973	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGGCCGGCGGCGCTCGCAGTA	0.647			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(2917-2919)cGc>cAc		caspase recruitment domain family, member 11							65.0	60.0	62.0					7																	2953022		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2953022C>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2918G>A	7.37:g.2953022C>T	ENSP00000380150:p.Arg973His						p.R973H	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	22	3321	-		Ovarian(82;0.0115)	973			Guanylate kinase-like.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.2918G>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414827	0.42817	.	.	ENSG00000198286	ENST00000396946	T	0.33216	1.42	4.36	3.47	0.39725	.	0.069182	0.52532	D	0.000070	T	0.19287	0.0463	L	0.27053	0.805	0.51233	D	0.999915	B	0.17038	0.02	B	0.14578	0.011	T	0.05582	-1.0876	10	0.35671	T	0.21	-31.1095	8.2371	0.31634	0.0:0.8208:0.0:0.1792	.	973	Q9BXL7	CAR11_HUMAN	H	973	ENSP00000380150:R973H	ENSP00000380150:R973H	R	-	2	0	CARD11	2919548	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	1.319000	0.33655	1.985000	0.57927	0.484000	0.47621	CGC		0.647	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		49	71	0	0	0	1	0	49	71				
ZRANB1	54764	broad.mit.edu	37	10	126672148	126672148	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:126672148G>A	ENST00000359653.4	+	8	2170	c.1799G>A	c.(1798-1800)cGa>cAa	p.R600Q		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	600	TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TATGGCAACCGAGGTGCTGGT	0.468																																						ENST00000359653.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1798-1800)cGa>cAa		zinc finger, RAN-binding domain containing 1							150.0	124.0	133.0					10																	126672148		2203	4300	6503	SO:0001583	missense	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126672148G>A	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1799G>A	10.37:g.126672148G>A	ENSP00000352676:p.Arg600Gln						p.R600Q	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	8	2170	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	600			TRAF-binding.		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	c.1799G>A	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446693	0.84101	.	.	ENSG00000019995	ENST00000359653	T	0.18502	2.21	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	L	0.44542	1.39	0.80722	D	1	D	0.63880	0.993	P	0.47299	0.543	T	0.01839	-1.1263	10	0.13470	T	0.59	-35.6471	19.5944	0.95530	0.0:0.0:1.0:0.0	.	600	Q9UGI0	ZRAN1_HUMAN	Q	600	ENSP00000352676:R600Q	ENSP00000352676:R600Q	R	+	2	0	ZRANB1	126662138	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.263000	0.95617	2.868000	0.98415	0.555000	0.69702	CGA		0.468	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		24	44	0	0	0	1	0	24	44				
LPIN3	64900	broad.mit.edu	37	20	39981249	39981249	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr20:39981249A>T	ENST00000373257.3	+	10	1458	c.1367A>T	c.(1366-1368)aAa>aTa	p.K456I		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	456					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TGCCCAGAGAAATTCAACCAG	0.567																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1366-1368)aAa>aTa		lipin 3							153.0	165.0	161.0					20																	39981249		2203	4300	6503	SO:0001583	missense	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39981249A>T	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1367A>T	20.37:g.39981249A>T	ENSP00000362354:p.Lys456Ile						p.K456I	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			10	1458	+		Myeloproliferative disorder(115;0.000739)	456					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	c.1367A>T	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.037850	0.54896	.	.	ENSG00000132793	ENST00000373257;ENST00000373259	D	0.81659	-1.52	4.98	3.87	0.44632	.	0.186071	0.44285	D	0.000468	D	0.83797	0.5332	M	0.66939	2.045	0.48571	D	0.999673	P;B	0.40050	0.7;0.082	P;B	0.54270	0.747;0.025	T	0.82343	-0.0504	9	.	.	.	-20.1409	7.5258	0.27653	0.828:0.0:0.172:0.0	.	457;456	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	I	456;120	ENSP00000362354:K456I	.	K	+	2	0	LPIN3	39414663	0.999000	0.42202	1.000000	0.80357	0.250000	0.25880	2.125000	0.42016	1.877000	0.54381	0.460000	0.39030	AAA		0.567	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		14	594	0	0	0	1	0	14	594				
RSPRY1	89970	broad.mit.edu	37	16	57238722	57238722	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr16:57238722G>A	ENST00000537866.1	+	2	1025	c.152G>A	c.(151-153)gGa>gAa	p.G51E	RSPRY1_ENST00000394420.4_Missense_Mutation_p.G51E			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	51						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GATGACAGTGGAACAGATGAC	0.552																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(151-153)gGa>gAa		ring finger and SPRY domain containing 1							158.0	151.0	153.0					16																	57238722		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57238722G>A	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.152G>A	16.37:g.57238722G>A	ENSP00000443176:p.Gly51Glu					RSPRY1_ENST00000394420.4_Missense_Mutation_p.G51E	p.G51E			Q96DX4	RSPRY_HUMAN			2	1025	+			51					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.152G>A	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605147	0.46423	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.84800	-1.9;-1.9	4.74	4.74	0.60224	.	0.173367	0.52532	D	0.000078	D	0.85080	0.5615	L	0.36672	1.1	0.58432	D	0.999993	P;B	0.52061	0.95;0.295	P;B	0.52066	0.689;0.068	D	0.83541	0.0096	10	0.31617	T	0.26	.	18.2918	0.90133	0.0:0.0:1.0:0.0	.	51;51	Q96DX4-2;Q96DX4	.;RSPRY_HUMAN	E	51	ENSP00000377942:G51E;ENSP00000443176:G51E	ENSP00000377942:G51E	G	+	2	0	RSPRY1	55796223	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.521000	0.73778	2.630000	0.89119	0.655000	0.94253	GGA		0.552	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		93	103	0	0	0	1	0	93	103				
FAM71B	153745	broad.mit.edu	37	5	156589885	156589885	+	Missense_Mutation	SNP	G	G	A	rs201677910		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:156589885G>A	ENST00000302938.4	-	2	1486	c.1391C>T	c.(1390-1392)gCg>gTg	p.A464V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	464						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGGAAGACGCTTTCTGATT	0.512																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1390-1392)gCg>gTg		family with sequence similarity 71, member B							197.0	184.0	189.0					5																	156589885		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589885G>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1391C>T	5.37:g.156589885G>A	ENSP00000305596:p.Ala464Val						p.A464V	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1486	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	464					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1391C>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841831	0.51057	.	.	ENSG00000170613	ENST00000302938	T	0.17854	2.25	4.64	4.64	0.57946	.	1.325710	0.05504	N	0.558966	T	0.13798	0.0334	N	0.22421	0.69	0.22142	N	0.999337	B	0.32128	0.357	B	0.17979	0.02	T	0.13791	-1.0496	10	0.40728	T	0.16	-0.1825	13.7477	0.62885	0.0:0.0:1.0:0.0	.	464	Q8TC56	FA71B_HUMAN	V	464	ENSP00000305596:A464V	ENSP00000305596:A464V	A	-	2	0	FAM71B	156522463	0.173000	0.23056	0.908000	0.35775	0.038000	0.13279	2.586000	0.46119	2.500000	0.84329	0.655000	0.94253	GCG		0.512	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		94	72	0	0	0	1	0	94	72				
PEX14	5195	broad.mit.edu	37	1	10659423	10659423	+	Splice_Site	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:10659423A>G	ENST00000356607.4	+	4	378	c.298A>G	c.(298-300)Agt>Ggt	p.S100G	PEX14_ENST00000538836.1_Splice_Site_p.S36G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	100					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGCCATACAGTAAGTCACC	0.557																																						ENST00000356607.4																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13						c.e4+1		peroxisomal biogenesis factor 14							95.0	86.0	89.0					1																	10659423		2203	4300	6503	SO:0001630	splice_region_variant	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10659423A>G	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.298+1A>G	1.37:g.10659423A>G						PEX14_ENST00000538836.1_Splice_Site_p.S36_splice	p.S100_splice	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	4	378	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	100					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Splice_Site	SNP	ENST00000356607.4	37	c.298_splice	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134690	0.56828	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.47869	0.83;1.8	5.81	5.81	0.92471	Peroxisome membrane anchor protein Pex14p, N-terminal (1);	0.129503	0.64402	D	0.000001	T	0.50701	0.1631	M	0.65498	2.005	0.58432	D	0.999999	B	0.28128	0.201	B	0.31946	0.138	T	0.47522	-0.9111	10	0.36615	T	0.2	.	16.1713	0.81820	1.0:0.0:0.0:0.0	.	100	O75381	PEX14_HUMAN	G	100;36	ENSP00000349016:S100G;ENSP00000444877:S36G	ENSP00000349016:S100G	S	+	1	0	PEX14	10582010	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.118000	0.89577	2.221000	0.72209	0.528000	0.53228	AGT		0.557	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1		Missense_Mutation	16	74	0	0	0	1	0	16	74				
MT-CO2	4513	broad.mit.edu	37	M	7709	7709	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrM:7709C>T	ENST00000361739.1	+	1	124	c.124C>T	c.(124-126)Ctt>Ttt	p.L42F	MT-TN_ENST00000387400.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TY_ENST00000387409.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TA_ENST00000387392.1_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	42					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						TCCTGTATGCCCTTTTCCTAA	0.433																																						ENST00000361739.1																			0				endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						c.(124-126)Ctt>Ttt		mitochondrially encoded cytochrome c oxidase II																																				SO:0001583	missense	4513							g.chrM:7709C>T			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.124C>T	M.37:g.7709C>T	ENSP00000354876:p.Leu42Phe						p.L42F							1	124	+								Q37526	Missense_Mutation	SNP	ENST00000361739.1	37	c.124C>T																																																																																					0.433	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024029		11	110	0	0	0	1	0	11	110				
POLR2A	5430	broad.mit.edu	37	17	7417153	7417153	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:7417153C>T	ENST00000322644.6	+	29	5969	c.5570C>T	c.(5569-5571)tCt>tTt	p.S1857F		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1857	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCCCAACCTCTCCCAAGTAC	0.567																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(5569-5571)tCt>tTt		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							246.0	254.0	251.0					17																	7417153		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7417153C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5570C>T	17.37:g.7417153C>T	ENSP00000314949:p.Ser1857Phe						p.S1857F	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			29	5969	+		Prostate(122;0.173)	1857			52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.5570C>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976145	0.53720	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.72394	-0.65	3.64	3.64	0.41730	.	0.274712	0.22387	U	0.060738	D	0.86875	0.6038	H	0.96269	3.795	0.80722	D	1	P	0.43826	0.818	P	0.55965	0.788	D	0.91056	0.4882	10	0.87932	D	0	.	14.674	0.68964	0.0:1.0:0.0:0.0	.	1857	P24928	RPB1_HUMAN	F	1813;742;1857	ENSP00000314949:S1857F	ENSP00000314949:S1857F	S	+	2	0	SLC35G6	7357877	0.118000	0.22208	0.894000	0.35097	0.652000	0.38707	2.369000	0.44231	2.042000	0.60477	0.298000	0.19748	TCT		0.567	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		104	154	0	0	0	1	0	104	154				
BPTF	2186	broad.mit.edu	37	17	65916138	65916138	+	Silent	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:65916138C>T	ENST00000321892.4	+	15	5875	c.5814C>T	c.(5812-5814)tcC>tcT	p.S1938S	BPTF_ENST00000306378.6_Silent_p.S1812S|BPTF_ENST00000335221.5_Silent_p.S1938S|BPTF_ENST00000424123.3_Silent_p.S1799S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1938					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAGAAACATCCGAAACTGAAA	0.343																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(5812-5814)tcC>tcT		bromodomain PHD finger transcription factor							109.0	111.0	111.0					17																	65916138		2203	4300	6503	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65916138C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5814C>T	17.37:g.65916138C>T						BPTF_ENST00000335221.5_Silent_p.S1938S|BPTF_ENST00000424123.3_Silent_p.S1799S|BPTF_ENST00000306378.6_Silent_p.S1812S	p.S1938S			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		15	5875	+	all_cancers(12;6e-11)		1938					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.5814C>T																																																																																					0.343	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		42	14	0	0	0	1	0	42	14				
NNT	23530	broad.mit.edu	37	5	43675666	43675666	+	Silent	SNP	A	A	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:43675666A>C	ENST00000264663.5	+	18	2909	c.2688A>C	c.(2686-2688)tcA>tcC	p.S896S	NNT_ENST00000512996.2_Silent_p.S765S|NNT_ENST00000344920.4_Silent_p.S896S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	896					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GCACCACTTCAACAGCTGGTG	0.403																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2686-2688)tcA>tcC		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						95.0	88.0	90.0					5																	43675666		2203	4300	6503	SO:0001819	synonymous_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43675666A>C	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2688A>C	5.37:g.43675666A>C						NNT_ENST00000344920.4_Silent_p.S896S|NNT_ENST00000512996.2_Silent_p.S765S	p.S896S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			18	2909	+	Lung NSC(6;2.58e-06)		896					Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	c.2688A>C	CCDS3949.1																																																																																				0.403	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		21	44	0	0	0	1	0	21	44				
ANO2	57101	broad.mit.edu	37	12	6031879	6031879	+	Silent	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:6031879G>A	ENST00000356134.5	-	2	173	c.102C>T	c.(100-102)ctC>ctT	p.L34L	ANO2_ENST00000546188.1_Silent_p.L34L|ANO2_ENST00000327087.8_Silent_p.L34L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	38					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGGCATCTTGAGACACTGCT	0.662																																						ENST00000546188.1																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(100-102)ctC>ctT		anoctamin 2							22.0	25.0	24.0					12																	6031879		1892	4114	6006	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:6031879G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.102C>T	12.37:g.6031879G>A						ANO2_ENST00000327087.8_Silent_p.L34L|ANO2_ENST00000356134.5_Silent_p.L34L	p.L34L			Q9NQ90	ANO2_HUMAN			2	173	-			38					C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.102C>T																																																																																					0.662	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		6	6	0	0	0	1	0	6	6				
AOC4P	90586	broad.mit.edu	37	17	41019567	41019567	+	RNA	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:41019567C>T	ENST00000585538.1	+	0	406					NR_002773.1				amine oxidase, copper containing 4, pseudogene																		GCCCAGCCCTCGGACAACTGT	0.662																																						ENST00000585538.1																			0																																																			0							g.chr17:41019567C>T			17q21.31	2013-06-19			ENSG00000260105	ENSG00000260105			48869	pseudogene	pseudogene						20013028	Standard	NR_002773		Approved				OTTHUMG00000176596		17.37:g.41019567C>T								NR_002773.1						0	406	+									RNA	SNP	ENST00000585538.1	37																																																																																						0.662	AOC4P-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000452449.1			103	38	0	0	0	1	0	103	38				
NHS	4810	broad.mit.edu	37	X	17710478	17710478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:17710478C>T	ENST00000380060.3	+	3	1080	c.742C>T	c.(742-744)Cga>Tga	p.R248*	NHS_ENST00000398097.3_Nonsense_Mutation_p.R71*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	248	WAVE homology domain (WHD).				cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GAGCGATCGCCGAGAGCAAAG	0.532																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	GRCh37	CM085588	NHS	M		c.(742-744)Cga>Tga		Nance-Horan syndrome (congenital cataracts and dental anomalies)							91.0	82.0	85.0					X																	17710478		2203	4300	6503	SO:0001587	stop_gained	4810					nucleus		g.chrX:17710478C>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.742C>T	X.37:g.17710478C>T	ENSP00000369400:p.Arg248*					NHS_ENST00000398097.3_Nonsense_Mutation_p.R71*	p.R248*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			3	1080	+	Hepatocellular(33;0.183)		248					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Nonsense_Mutation	SNP	ENST00000380060.3	37	c.742C>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	39	7.821517	0.98507	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	.	.	.	5.55	1.44	0.22558	.	0.103067	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8183	8.9864	0.35997	0.5501:0.322:0.1279:0.0	.	.	.	.	X	248;71;69	.	ENSP00000369397:R69X	R	+	1	2	NHS	17620399	0.283000	0.24277	0.307000	0.25127	0.954000	0.61252	0.078000	0.14761	0.230000	0.21059	0.600000	0.82982	CGA		0.532	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		33	62	0	0	0	1	0	33	62				
GYLTL1B	120071	broad.mit.edu	37	11	45948052	45948052	+	Missense_Mutation	SNP	C	C	A	rs142831797		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr11:45948052C>A	ENST00000531526.1	+	9	1179	c.1068C>A	c.(1066-1068)ttC>ttA	p.F356L	GYLTL1B_ENST00000389968.3_Missense_Mutation_p.F83L|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.F325L|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.F325L|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.F356L|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.F356L	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	356					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TGGAATTCTTCCGCAATTTCT	0.582																																						ENST00000531526.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1066-1068)ttC>ttA		glycosyltransferase-like 1B							96.0	99.0	98.0					11																	45948052		2203	4299	6502	SO:0001583	missense	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45948052C>A		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1068C>A	11.37:g.45948052C>A	ENSP00000432869:p.Phe356Leu					GYLTL1B_ENST00000325468.5_Missense_Mutation_p.F356L|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.F325L|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.F356L|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.F325L|GYLTL1B_ENST00000389968.3_Missense_Mutation_p.F83L	p.F356L	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	9	1179	+			356					A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	c.1068C>A	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122771	0.94429	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139;ENST00000534410	T;T;T;D;T;T	0.82619	1.74;1.74;1.74;-1.63;1.74;1.74	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.91456	0.7303	M	0.81239	2.535	0.80722	D	1	D;P;B	0.76494	0.999;0.691;0.353	D;P;B	0.71184	0.972;0.566;0.347	D	0.90361	0.4373	10	0.41790	T	0.15	-31.367	19.8052	0.96529	0.0:1.0:0.0:0.0	.	325;325;356	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	L	325;356;356;83;356;325;17	ENSP00000431932:F325L;ENSP00000432869:F356L;ENSP00000385235:F356L;ENSP00000374618:F83L;ENSP00000324570:F356L;ENSP00000445044:F325L	ENSP00000324570:F356L	F	+	3	2	GYLTL1B	45904628	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.644000	0.61397	2.688000	0.91661	0.561000	0.74099	TTC		0.582	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		36	5	1	0	9.17885e-22	1	1.08595e-21	36	5				
NWD1	284434	broad.mit.edu	37	19	16872832	16872832	+	Silent	SNP	C	C	T	rs544074252		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr19:16872832C>T	ENST00000552788.1	+	6	2016	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	NWD1_ENST00000549814.1_Silent_p.S672S|NWD1_ENST00000523826.1_Silent_p.S466S|NWD1_ENST00000379808.3_Silent_p.S672S|NWD1_ENST00000524140.2_Silent_p.S672S|NWD1_ENST00000339803.6_Silent_p.S537S			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	672							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTCAGGATCCGAGAGAGCCA	0.577																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2014-2016)tcC>tcT		NACHT and WD repeat domain containing 1							103.0	78.0	86.0					19																	16872832		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16872832C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2016C>T	19.37:g.16872832C>T						NWD1_ENST00000379808.3_Silent_p.S672S|NWD1_ENST00000552788.1_Silent_p.S672S|NWD1_ENST00000523826.1_Silent_p.S466S|NWD1_ENST00000339803.6_Silent_p.S537S|NWD1_ENST00000549814.1_Silent_p.S672S	p.S672S	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			8	2434	+			672					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.2016C>T																																																																																					0.577	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		13	38	0	0	0	1	0	13	38				
DAB1	1600	broad.mit.edu	37	1	57535038	57535038	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:57535038delA	ENST00000371231.1	-	7	692	c.658delT	c.(658-660)tatfs	p.Y220fs	DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371234.4_Frame_Shift_Del_p.Y220fs|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000371236.2_Frame_Shift_Del_p.Y220fs|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	220					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TATACCTGATAAATGTTTTCT	0.423																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(658-660)atfs		Dab, reelin signal transducer, homolog 1 (Drosophila)							167.0	151.0	157.0					1																	57535038		2203	4300	6503	SO:0001589	frameshift_variant	1600				cell differentiation|nervous system development			g.chr1:57535038delA	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.658delT	1.37:g.57535038delA	ENSP00000360275:p.Tyr220fs					DAB1_ENST00000371234.4_Frame_Shift_Del_p.Y220fs|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371231.1_Frame_Shift_Del_p.Y220fs|DAB1_ENST00000485760.1_5'UTR	p.Y220fs			O75553	DAB1_HUMAN			8	921	-			220					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Frame_Shift_Del	DEL	ENST00000371231.1	37	c.658delT																																																																																					0.423	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		47	43						47	43	---	---	---	---
LOC101927587	101927587	broad.mit.edu	37	1	84311093	84311093	+	lincRNA	DEL	A	A	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:84311093delA	ENST00000417975.1	-	0	178																											tgaaggtgagaaggggagaat	0.428																																						ENST00000417975.1																			0																																																			0							g.chr1:84311093delA																													1.37:g.84311093delA														0	178	-									RNA	DEL	ENST00000417975.1	37																																																																																						0.428	RP11-475O6.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000027492.1			2	4						2	4	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109293	145109294	+	RNA	INS	-	-	A	rs7364468|rs7367456		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:145109293_145109294insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											caaaaaaaaagaaaaaaaaaaa	0.431																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109293_145109294insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109304_145109304dupA										O75396	SC22B_HUMAN			0	512	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.431	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		4	2						4	2	---	---	---	---
LOC101929567	101929567	broad.mit.edu	37	2	8719216	8719216	+	lincRNA	DEL	C	C	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:8719216delC	ENST00000454224.1	-	0	213																											GACAGTGCTTCCCATCCCACC	0.572																																						ENST00000454224.1																			0																																																			0							g.chr2:8719216delC																													2.37:g.8719216delC														0	213	-									RNA	DEL	ENST00000454224.1	37																																																																																						0.572	AC011747.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000323302.1			2	4						2	4	---	---	---	---
LOC101927043	101927043	broad.mit.edu	37	2	47550195	47550201	+	lincRNA	DEL	ACACTAC	ACACTAC	-	rs72061798|rs199588643		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:47550195_47550201delACACTAC	ENST00000419035.1	-	0	66																		p.0?(2)|p.?(1)									acactacactacactacacactacact	0.454																																						ENST00000419035.1																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)																																																0							g.chr2:47550195_47550201delACACTAC																													2.37:g.47550202_47550208delACACTAC														0	66	-									RNA	DEL	ENST00000419035.1	37																																																																																						0.454	AC073283.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000323519.1			3	4						3	4	---	---	---	---
LINC01122	400955	broad.mit.edu	37	2	59253914	59253915	+	lincRNA	DEL	GT	GT	-	rs61546892|rs573966866|rs2863208	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:59253914_59253915delGT	ENST00000452840.1	+	0	1053																											ATATGTGAGGgtgtgtgtgtgt	0.421																																						ENST00000452840.1																			0																																																			0							g.chr2:59253914_59253915delGT																													2.37:g.59253924_59253925delGT														0	1053	+									RNA	DEL	ENST00000452840.1	37																																																																																						0.421	AC007092.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000327022.1			2	4						2	4	---	---	---	---
AC097532.2	0	broad.mit.edu	37	2	133046597	133046597	+	lincRNA	DEL	A	A	-	rs199577408|rs111715068	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:133046597delA	ENST00000440802.1	-	0	101																											TCTGAGCTCGAGGCCCCCCAA	0.597																																						ENST00000440802.1																			0																																																			0							g.chr2:133046597delA																													2.37:g.133046597delA														0	101	-									RNA	DEL	ENST00000440802.1	37																																																																																						0.597	AC097532.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331805.1			3	3						3	3	---	---	---	---
RFC1	5981	broad.mit.edu	37	4	39304717	39304718	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr4:39304717_39304718delTC	ENST00000381897.1	-	16	2300_2301	c.2167_2168delGA	c.(2167-2169)gatfs	p.D723fs	RFC1_ENST00000349703.2_Frame_Shift_Del_p.D722fs	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	723					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCCATGCCATCTACTTCATCC	0.416																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2167-2169)tfs		replication factor C (activator 1) 1, 145kDa																																				SO:0001589	frameshift_variant	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39304717_39304718delTC	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2167_2168delGA	4.37:g.39304717_39304718delTC	ENSP00000371321:p.Asp723fs					RFC1_ENST00000349703.2_Frame_Shift_Del_p.D722fs	p.D723fs	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			16	2300_2301	-			723					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Frame_Shift_Del	DEL	ENST00000381897.1	37	c.2167_2168delGA	CCDS56329.1																																																																																				0.416	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		16	30						16	30	---	---	---	---
MAP3K1	4214	broad.mit.edu	37	5	56178633	56178643	+	Frame_Shift_Del	DEL	CCCCATAGTTC	CCCCATAGTTC	-	rs368673262		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:56178633_56178643delCCCCATAGTTC	ENST00000399503.3	+	14	3606_3616	c.3606_3616delCCCCATAGTTC	c.(3604-3618)ctccccatagttcctfs	p.PIVP1203fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1203					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGGATGCCCTCCCCATAGTTCCTCAGCTGCA	0.417																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(3604-3618)ctctfs		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56178633_56178643delCCCCATAGTTC	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3606_3616delCCCCATAGTTC	5.37:g.56178633_56178643delCCCCATAGTTC	ENSP00000382423:p.Pro1203fs						p.LPIVP1202fs	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	3606_3616	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1202						Frame_Shift_Del	DEL	ENST00000399503.3	37	c.3606_3616delCCCCATAGTTC	CCDS43318.1																																																																																				0.417	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		18	32						18	32	---	---	---	---
SERPINB9P1	221756	broad.mit.edu	37	6	2871987	2871987	+	lincRNA	DEL	G	G	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr6:2871987delG	ENST00000545177.3	-	0	256																											ccagctacttgggaggctgag	0.562																																						ENST00000545177.2																			0																																																			0							g.chr6:2871987delG																													6.37:g.2871987delG														0	135	-									RNA	DEL	ENST00000545177.3	37																																																																																						0.562	RP11-420G6.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000039645.3			2	4						2	4	---	---	---	---
CTD-2281E23.3	0	broad.mit.edu	37	8	1197072	1197073	+	lincRNA	INS	-	-	A	rs370339112		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr8:1197072_1197073insA	ENST00000517950.1	-	0	308_309																											TCAGTGTGTGGAGTGATGGTCC	0.569																																						ENST00000517950.1																			0																																																			0							g.chr8:1197072_1197073insA																													8.37:g.1197073_1197073dupA														0	308_309	-									RNA	INS	ENST00000517950.1	37																																																																																						0.569	CTD-2281E23.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000374676.1			5	10						5	10	---	---	---	---
RP11-764K9.1	0	broad.mit.edu	37	9	68406251	68406251	+	lincRNA	DEL	A	A	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:68406251delA	ENST00000417843.2	-	0	224				RNA5SP284_ENST00000384547.1_RNA																							atcaatggggaaaagattccc	0.378																																						ENST00000417843.2																			0																																																			0							g.chr9:68406251delA																													9.37:g.68406251delA														0	224	-									RNA	DEL	ENST00000417843.2	37																																																																																						0.378	RP11-764K9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000129817.2			2	4						2	4	---	---	---	---
LINC00842	643650	broad.mit.edu	37	10	47119797	47119797	+	lincRNA	DEL	A	A	-	rs368312689|rs543273029|rs77634817|rs56694542|rs576273119	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:47119797delA	ENST00000422732.2	-	0	435					NR_033957.2				long intergenic non-protein coding RNA 842																		ccataaaaataaaaaaAAAAA	0.303																																						ENST00000422732.2																			0																																																			0							g.chr10:47119797delA			10q11.22	2013-01-04			ENSG00000223477	ENSG00000274909		"""Long non-coding RNAs"""	44989	non-coding RNA	RNA, long non-coding							Standard	NR_033957		Approved		uc001jef.3		OTTHUMG00000018109		10.37:g.47119797delA								NR_033957.1						0	435	-									RNA	DEL	ENST00000422732.2	37																																																																																						0.303	LINC00842-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047838.2	NR_033957		4	4						4	4	---	---	---	---
SPI1	6688	broad.mit.edu	37	11	47380277	47380278	+	Intron	DEL	CA	CA	-	rs3832728	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr11:47380277_47380278delCA	ENST00000378538.3	-	4	716				SPI1_ENST00000533030.1_Intron|SPI1_ENST00000227163.4_Intron|SPI1_ENST00000533968.1_Frame_Shift_Del_p.C204fs	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene						anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		ggcaaacatgcacacacacaca	0.614																																						ENST00000533968.1																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(610-612)cfs		spleen focus forming virus (SFFV) proviral integration oncogene																																				SO:0001627	intron_variant	6688				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:47380277_47380278delCA	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.493+116TG>-	11.37:g.47380287_47380288delCA						SPI1_ENST00000227163.4_Intron|SPI1_ENST00000533030.1_Intron|SPI1_ENST00000378538.3_Intron	p.C204fs			P17947	SPI1_HUMAN		Lung(87;0.0967)	4	743_744	-			0						Frame_Shift_Del	DEL	ENST00000378538.3	37	c.610_611delTG	CCDS7933.2																																																																																				0.614	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	NM_003120		3	4						3	4	---	---	---	---
RP4-601P9.2	0	broad.mit.edu	37	12	115174857	115174860	+	lincRNA	DEL	GTGT	GTGT	-	rs398021140|rs113611710|rs61553661		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:115174857_115174860delGTGT	ENST00000551875.1	+	0	541				SNORA27_ENST00000516650.1_RNA																							gtgtgtgtgcgtgtgtgtgtgtgt	0.564																																						ENST00000551875.1																			0																																																			0							g.chr12:115174857_115174860delGTGT																													12.37:g.115174865_115174868delGTGT														0	541	+									RNA	DEL	ENST00000551875.1	37																																																																																						0.564	RP4-601P9.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000404943.1			3	2						3	2	---	---	---	---
CHEK2P2	646096	broad.mit.edu	37	15	20493961	20493961	+	RNA	DEL	T	T	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:20493961delT	ENST00000555186.1	+	0	568					NR_038836.1				checkpoint kinase 2 pseudogene 2																		gctaatttaattttttttttt	0.488																																						ENST00000555186.1																			0																																																			0							g.chr15:20493961delT			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20493961delT								NR_038836.1						0	568	+									RNA	DEL	ENST00000555186.1	37																																																																																						0.488	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		5	3						5	3	---	---	---	---
RP11-509A17.3	0	broad.mit.edu	37	15	20558347	20558348	+	lincRNA	DEL	TT	TT	-	rs548417847|rs3041773|rs147396717|rs55733439|rs577265069	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:20558347_20558348delTT	ENST00000557528.1	+	0	734_735				snoU13_ENST00000459119.1_RNA																							tgggaggcaatttttttttttt	0.515														1047	0.209065	0.1853	0.2176	5008	,	,		41196	0.2282		0.2187	False		,,,				2504	0.2055					ENST00000557528.1																			0																																																			0							g.chr15:20558347_20558348delTT																													15.37:g.20558357_20558358delTT														0	734_735	+									RNA	DEL	ENST00000557528.1	37																																																																																						0.515	RP11-509A17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414658.1			3	4						3	4	---	---	---	---
HERC2P9	440248	broad.mit.edu	37	15	28900331	28900331	+	RNA	DEL	A	A	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:28900331delA	ENST00000528584.1	+	0	14					NR_036443.1				hect domain and RLD 2 pseudogene 9																		actctgtctcaaaaaaaaaaa	0.413																																						ENST00000528584.1																			0																																																			0							g.chr15:28900331delA	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28900331delA								NR_036443.1						0	14	+									RNA	DEL	ENST00000528584.1	37																																																																																						0.413	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		2	4						2	4	---	---	---	---
CTA-481E9.3	0	broad.mit.edu	37	16	18245253	18245254	+	lincRNA	INS	-	-	AC	rs67600644		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr16:18245253_18245254insAC	ENST00000563866.1	-	0	48				CTA-481E9.4_ENST00000567304.1_lincRNA																							CCAACCTACCTacacacacaca	0.505																																						ENST00000563866.1																			0																																																			0							g.chr16:18245253_18245254insAC																													16.37:g.18245262_18245263dupAC						CTA-481E9.4_ENST00000567304.1_lincRNA								0	48	-									RNA	INS	ENST00000563866.1	37																																																																																						0.505	CTA-481E9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436058.1			2	4						2	4	---	---	---	---
RP11-454P7.3	0	broad.mit.edu	37	18	15197154	15197156	+	RNA	DEL	ACC	ACC	-	rs35960395|rs377579100	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr18:15197154_15197156delACC	ENST00000581666.1	-	0	256_258																											TTCTTTAATAACCACACTTTGTT	0.498																																						ENST00000581666.1																			0																																																			0							g.chr18:15197154_15197156delACC																													18.37:g.15197154_15197156delACC														0	256_258	-									RNA	DEL	ENST00000581666.1	37																																																																																						0.498	RP11-454P7.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443412.1			4	6						4	6	---	---	---	---
LOC101926955	101926955	broad.mit.edu	37	20	25937358	25937358	+	lincRNA	DEL	C	C	-	rs111987729		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr20:25937358delC	ENST00000449316.1	+	0	183																											ttggctgagacagaaagaaaa	0.438																																						ENST00000449316.1																			0																																																			0							g.chr20:25937358delC																													20.37:g.25937358delC														0	183	+									RNA	DEL	ENST00000449316.1	37																																																																																						0.438	RP4-760C5.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000316666.1			3	3						3	3	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11048257	11048257	+	RNA	DEL	C	C	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr21:11048257delC	ENST00000470054.1	-	0	659							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CACTCTTCTGCCCCCAAAGAT	0.318																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11048257delC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11048257delC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	659	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.318	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11066526	11066532	+	RNA	DEL	ATAACAT	ATAACAT	-	rs79906709|rs2943948		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr21:11066526_11066532delATAACAT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTGTAAGAAAATAACATATAAccaggc	0.391																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11066526_11066532delATAACAT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11066526_11066532delATAACAT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.391	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	6						3	6	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11091025	11091026	+	RNA	INS	-	-	A	rs112965469|rs149051634		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr21:11091025_11091026insA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		agagaaggtagaagaggaggta	0.421																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11091025_11091026insA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11091027_11091027dupA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.421	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	6						4	6	---	---	---	---
LSS	4047	broad.mit.edu	37	21	47649744	47649745	+	5'Flank	INS	-	-	G	rs11379593|rs397719263|rs549534529	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr21:47649744_47649745insG	ENST00000397728.3	-	0	0				MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|LSS_ENST00000457828.2_5'Flank|MCM3AP-AS1_ENST00000588753.1_RNA|LSS_ENST00000356396.4_5'Flank|MCM3AP-AS1_ENST00000420074.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|LSS_ENST00000464357.1_5'Flank|LSS_ENST00000522411.1_5'Flank|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)						cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GCAACAGGGCAGGGGGCGTCTG	0.569														3905	0.779752	0.9402	0.8084	5008	,	,		16268	0.4524		0.8499	False		,,,				2504	0.8078				Pancreas(114;955 2313 34923 50507)	ENST00000414659.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr21:47649744_47649745insG	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633		21.37:g.47649749_47649749dupG	Exception_encountered					MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000420074.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA								0	36	+								B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	RNA	INS	ENST00000397728.3	37		CCDS13733.1																																																																																				0.569	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			3	3						3	3	---	---	---	---
SRPK3	26576	broad.mit.edu	37	X	153050878	153050883	+	In_Frame_Del	DEL	CACAGT	CACAGT	-	rs376315195		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:153050878_153050883delCACAGT	ENST00000370101.3	+	15	1653_1658	c.1607_1612delCACAGT	c.(1606-1614)acacagttc>atc	p.536_538TQF>I	SRPK3_ENST00000370108.3_In_Frame_Del_p.503_505TQF>I|IDH3G_ENST00000497043.1_5'Flank|SRPK3_ENST00000370100.1_In_Frame_Del_p.461_463TQF>I|SRPK3_ENST00000393786.3_In_Frame_Del_p.502_504TQF>I|SRPK3_ENST00000489426.1_In_Frame_Del_p.603_605TQF>I|SRPK3_ENST00000370104.1_In_Frame_Del_p.535_537TQF>I	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	536	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGCAGGCCACACAGTTCAGCGCCTT	0.626																																					Esophageal Squamous(167;766 3400 32156)	ENST00000489426.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13						c.(1807-1815)atc>a		SRSF protein kinase 3																																				SO:0001651	inframe_deletion	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153050878_153050883delCACAGT	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.1607_1612delCACAGT	X.37:g.153050878_153050883delCACAGT	ENSP00000359119:p.Thr536_Phe538delinsIle					SRPK3_ENST00000393786.3_In_Frame_Del_p.TQF502del|SRPK3_ENST00000370101.3_In_Frame_Del_p.TQF536del|SRPK3_ENST00000370100.1_In_Frame_Del_p.TQF461del|SRPK3_ENST00000370104.1_In_Frame_Del_p.TQF535del|SRPK3_ENST00000370108.3_In_Frame_Del_p.TQF503del	p.TQF603del			Q9UPE1	SRPK3_HUMAN			21	4174_4179	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		536					Q13583|Q4F970|Q562F5|Q9UM62	In_Frame_Del	DEL	ENST00000370101.3	37	c.1808_1813delCACAGT	CCDS35441.1																																																																																				0.626	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370		49	97						49	97	---	---	---	---
