#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
SOX5	6660	broad.mit.edu	37	12	23696176	23696176	+	Silent	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr12:23696176G>A	ENST00000451604.2	-	13	1841	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D	SOX5_ENST00000309359.1_Silent_p.D567D|SOX5_ENST00000537393.1_Silent_p.D545D|SOX5_ENST00000381381.2_Silent_p.D459D|SOX5_ENST00000541536.1_Silent_p.D459D|SOX5_ENST00000396007.2_Silent_p.D194D|SOX5_ENST00000546136.1_Silent_p.D567D|SOX5_ENST00000545921.1_Silent_p.D570D			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	580					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AGTTGTGCATGTCAGGAAAGG	0.438																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(1699-1701)gaC>gaT		SRY (sex determining region Y)-box 5							224.0	198.0	207.0					12																	23696176		2203	4300	6503	SO:0001819	synonymous_variant	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23696176G>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1740C>T	12.37:g.23696176G>A						SOX5_ENST00000545921.1_Silent_p.D570D|SOX5_ENST00000451604.2_Silent_p.D580D|SOX5_ENST00000381381.2_Silent_p.D459D|SOX5_ENST00000396007.2_Silent_p.D194D|SOX5_ENST00000309359.1_Silent_p.D567D|SOX5_ENST00000541536.1_Silent_p.D459D|SOX5_ENST00000537393.1_Silent_p.D545D	p.D567D			P35711	SOX5_HUMAN			12	1703	-			580					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Silent	SNP	ENST00000451604.2	37	c.1701C>T	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	9.679	1.148787	0.21288	.	.	ENSG00000134532	ENST00000435266	.	.	.	6.03	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9498	0.52948	0.1312:0.0:0.8688:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SOX5	23587443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.755000	0.68750	2.861000	0.98227	0.655000	0.94253	.		0.438	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		18	100	0	0	0	1	0	18	100				
HID1	283987	broad.mit.edu	37	17	72948430	72948430	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr17:72948430G>A	ENST00000425042.2	-	17	2155	c.2078C>T	c.(2077-2079)cCg>cTg	p.P693L		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	693					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											GGTCTGCAGCGGCAGCTTCGA	0.667																																						ENST00000425042.2																			0											c.(2077-2079)cCg>cTg		HID1 domain containing							31.0	34.0	33.0					17																	72948430		2202	4299	6501	SO:0001583	missense	283987							g.chr17:72948430G>A		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.2078C>T	17.37:g.72948430G>A	ENSP00000413520:p.Pro693Leu						p.P693L	NM_030630.2	NP_085133.1					17	2155	-								Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.2078C>T	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381712	0.95967	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.85588	0.5731	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88832	0.3306	9	0.87932	D	0	-42.1837	18.5216	0.90954	0.0:0.0:1.0:0.0	.	693	Q8IV36	CQ028_HUMAN	L	465;693;465	.	ENSP00000317795:P465L	P	-	2	0	C17orf28	70460025	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.802000	0.99131	2.379000	0.81126	0.655000	0.94253	CCG		0.667	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		7	59	0	0	0	1	0	7	59				
CUX1	1523	broad.mit.edu	37	7	101892219	101892219	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr7:101892219G>A	ENST00000292535.7	+	24	4453	c.4415G>A	c.(4414-4416)cGc>cAc	p.R1472H	CUX1_ENST00000550008.2_Missense_Mutation_p.R1416H|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R1370H|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.R1483H|CUX1_ENST00000549414.2_Missense_Mutation_p.R1450H|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.R1314H|CUX1_ENST00000292538.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1472					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CGGGACTCGCGCGACAACCCC	0.697																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(4447-4449)cGc>cAc		cut-like homeobox 1							6.0	7.0	7.0					7																	101892219		1774	3668	5442	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101892219G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.4415G>A	7.37:g.101892219G>A	ENSP00000292535:p.Arg1472His					CUX1_ENST00000550008.2_Missense_Mutation_p.R1416H|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.R1472H|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.R1314H|CUX1_ENST00000549414.2_Missense_Mutation_p.R1450H|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R1370H|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron	p.R1483H	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			24	4468	+			1472					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.4448G>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993762	0.35131	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.62788	0.04;0.03;0.02;0.02;0.03;-0.0	3.89	3.01	0.34805	.	0.086330	0.45126	D	0.000385	T	0.53449	0.1797	L	0.46157	1.445	0.80722	D	1	B;B	0.13145	0.004;0.007	B;B	0.12837	0.003;0.008	T	0.52852	-0.8520	10	0.54805	T	0.06	-7.8062	11.2279	0.48895	0.0909:0.0:0.9091:0.0	.	1472;1483	P39880;P39880-3	CUX1_HUMAN;.	H	1483;1472;1450;1416;1370;1314	ENSP00000353401:R1483H;ENSP00000292535:R1472H;ENSP00000446630:R1450H;ENSP00000447373:R1416H;ENSP00000450125:R1370H;ENSP00000451558:R1314H	ENSP00000292535:R1472H	R	+	2	0	CUX1	101678939	1.000000	0.71417	0.979000	0.43373	0.009000	0.06853	3.684000	0.54671	0.833000	0.34828	0.655000	0.94253	CGC		0.697	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		3	17	0	0	0	1	0	3	17				
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	byFrequency	TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr21:11058340A>C	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)		GGGGTAAAGGAGAGAAATCTC	0.363													a|||	41	0.0081869	0.0136	0.0014	5008	,	,		64928	0.002		0.005	False		,,,				2504	0.0153					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058340A>C	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.11058340A>C												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	SNP	ENST00000470054.1	37																																																																																						0.363	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	140	0	0	0	1	0	8	140				
IGHA2	3494	broad.mit.edu	37	14	106054585	106054585	+	RNA	SNP	C	C	A	rs113035575	byFrequency	TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr14:106054585C>A	ENST00000390539.2	-	0	147				AL928742.1_ENST00000581377.1_RNA|AL928742.2_ENST00000578042.1_RNA			P01877	IGHA2_HUMAN	immunoglobulin heavy constant alpha 2 (A2m marker)						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										AAGTTTCTGGCGGTCACGTTC	0.642																																						ENST00000390539.2																			0																				91.0	100.0	97.0					14																	106054585		2139	4241	6380			3494							g.chr14:106054585C>A	J00221		14q32.33	2012-10-02			ENSG00000211890	ENSG00000211890		"""Immunoglobulins / IGH locus"""	5479	other	immunoglobulin gene		147000					Standard	NG_001019		Approved			P01877	OTTHUMG00000152472		14.37:g.106054585C>A														0	147	-									RNA	SNP	ENST00000390539.2	37																																																																																						0.642	IGHA2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326338.1	NG_001019		10	61	1	0	2.74318e-10	1	3.16119e-10	10	61				
MROH6	642475	broad.mit.edu	37	8	144650361	144650361	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr8:144650361A>G	ENST00000398882.3	-	11	1971	c.1715T>C	c.(1714-1716)gTg>gCg	p.V572A	MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000532704.1_5'Flank|MROH6_ENST00000533679.1_Intron	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	572																	ATAGTGGGCCACGGTGACCAA	0.652																																						ENST00000398882.3																			0											c.(1714-1716)gTg>gCg		maestro heat-like repeat family member 6							25.0	28.0	27.0					8																	144650361		1957	4150	6107	SO:0001583	missense	642475							g.chr8:144650361A>G	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1715T>C	8.37:g.144650361A>G	ENSP00000381857:p.Val572Ala					MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000533679.1_Intron|MROH6_ENST00000524906.1_5'UTR	p.V572A	NM_001100878.1	NP_001094348.1					11	1971	-								A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	37	c.1715T>C	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.787491	0.49997	.	.	ENSG00000204839	ENST00000398882	T	0.31247	1.5	4.82	4.82	0.62117	Armadillo-type fold (1);	.	.	.	.	T	0.19685	0.0473	L	0.29908	0.895	0.80722	D	1	P	0.41673	0.759	B	0.39027	0.288	T	0.03325	-1.1048	9	0.09084	T	0.74	-36.0905	10.7888	0.46422	1.0:0.0:0.0:0.0	.	572	A6NGR9	CH073_HUMAN	A	572	ENSP00000381857:V572A	ENSP00000381857:V572A	V	-	2	0	C8orf73	144721504	0.617000	0.27043	0.973000	0.42090	0.220000	0.24768	2.277000	0.43417	1.811000	0.52892	0.368000	0.22195	GTG		0.652	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		6	26	0	0	0	1	0	6	26				
TMEM244	253582	broad.mit.edu	37	6	130166922	130166922	+	Missense_Mutation	SNP	C	C	T	rs143949103		TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr6:130166922C>T	ENST00000368143.1	-	2	191	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	TMEM244_ENST00000438392.1_Missense_Mutation_p.V37M	NM_001010876.1	NP_001010876.1	Q5VVB8	TM244_HUMAN	transmembrane protein 244	37						integral component of membrane (GO:0016021)		p.V37M(1)									TCAAACATCACGCAGCCCATG	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		18431	0.001		0.0	False		,,,				2504	0.0					ENST00000438392.1																			1	Substitution - Missense(1)	p.V37M(1)	large_intestine(1)								c.(109-111)Gtg>Atg		transmembrane protein 244		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	111.0	103.0	106.0		109	-2.4	0.0	6	dbSNP_134	106	0,8600		0,0,4300	yes	missense	C6orf191	NM_001010876.1	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	37/129	130166922	1,13005	2203	4300	6503	SO:0001583	missense	253582					integral to membrane		g.chr6:130166922C>T		CCDS34536.1	6q22.33	2012-02-21	2012-02-21	2012-02-21	ENSG00000203756	ENSG00000203756			21571	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 191"""	C6orf191			Standard	NM_001010876		Approved	bA174C7.4	uc003qbs.3	Q5VVB8	OTTHUMG00000015553	ENST00000368143.1:c.109G>A	6.37:g.130166922C>T	ENSP00000357125:p.Val37Met					TMEM244_ENST00000368143.1_Missense_Mutation_p.V37M	p.V37M			Q5VVB8	CF191_HUMAN			3	289	-			37						Missense_Mutation	SNP	ENST00000368143.1	37	c.109G>A	CCDS34536.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	3.211	-0.161646	0.06502	2.27E-4	0.0	ENSG00000203756	ENST00000368143;ENST00000438392	T;T	0.38401	1.14;1.14	4.41	-2.44	0.06502	.	0.691250	0.12851	N	0.433943	T	0.03434	0.0099	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41592	-0.9500	10	0.30854	T	0.27	-33.3459	5.9151	0.19050	0.0:0.2501:0.3143:0.4356	.	37	Q5VVB8	CF191_HUMAN	M	37	ENSP00000357125:V37M;ENSP00000403755:V37M	ENSP00000357125:V37M	V	-	1	0	C6orf191	130208615	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.521000	0.06245	-0.489000	0.06716	-2.688000	0.00140	GTG		0.358	TMEM244-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042194.1	NM_001010876		12	91	0	0	0	1	0	12	91				
ADAMTS2	9509	broad.mit.edu	37	5	178562959	178562959	+	Missense_Mutation	SNP	C	C	T	rs144554943		TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr5:178562959C>T	ENST00000251582.7	-	13	2137	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	679	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTAGGAGCAGCGCGTCCCGTC	0.637																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2035-2037)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 2		C	HIS/ARG	0,4406		0,0,2203	101.0	92.0	95.0		2036	4.4	1.0	5	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS2	NM_014244.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	679/1212	178562959	1,13005	2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178562959C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2036G>A	5.37:g.178562959C>T	ENSP00000251582:p.Arg679His						p.R679H	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	13	2137	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	679			Cys-rich.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2036G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528014	0.64860	0.0	1.16E-4	ENSG00000087116	ENST00000251582	T	0.68765	-0.35	5.37	4.38	0.52667	.	0.215375	0.32852	N	0.005579	T	0.61073	0.2318	M	0.63428	1.95	0.80722	D	1	B	0.25904	0.137	B	0.19666	0.026	T	0.61168	-0.7117	10	0.41790	T	0.15	.	11.4693	0.50259	0.0:0.8792:0.0:0.1208	.	679	O95450	ATS2_HUMAN	H	679	ENSP00000251582:R679H	ENSP00000251582:R679H	R	-	2	0	ADAMTS2	178495565	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	3.805000	0.55575	2.521000	0.84997	0.462000	0.41574	CGC		0.637	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		16	111	0	0	0	1	0	16	111				
SLAMF1	6504	broad.mit.edu	37	1	160607290	160607290	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:160607290G>T	ENST00000302035.6	-	2	455	c.106C>A	c.(106-108)Ctc>Atc	p.L36I	SLAMF1_ENST00000538290.1_Missense_Mutation_p.L36I|SLAMF1_ENST00000355199.3_Missense_Mutation_p.L36I|SLAMF1_ENST00000235739.5_Missense_Mutation_p.L36I	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	36	Ig-like V-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AACTGCCGGAGAATCTTTGGG	0.473																																						ENST00000302035.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(106-108)Ctc>Atc		signaling lymphocytic activation molecule family member 1							71.0	59.0	63.0					1																	160607290		2203	4300	6503	SO:0001583	missense	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160607290G>T	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.106C>A	1.37:g.160607290G>T	ENSP00000306190:p.Leu36Ile					SLAMF1_ENST00000538290.1_Missense_Mutation_p.L36I|SLAMF1_ENST00000355199.3_Missense_Mutation_p.L36I|SLAMF1_ENST00000235739.5_Missense_Mutation_p.L36I|SLAMF1_ENST00000494463.1_5'UTR	p.L36I	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	455	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		36					Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.106C>A	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	G	8.679	0.904565	0.17760	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000392208;ENST00000538290;ENST00000355199	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	4.19	-4.59	0.03400	Signaling lymphocytic activation molecule, N-terminal (2);	1.643340	0.03132	N	0.165319	T	0.07999	0.0200	N	0.14661	0.345	0.09310	N	1	B;B	0.22080	0.064;0.02	B;B	0.19391	0.025;0.01	T	0.06716	-1.0811	10	0.22109	T	0.4	-29.1975	0.9317	0.01336	0.1771:0.2492:0.1796:0.394	.	36;36	B4E2E4;Q13291	.;SLAF1_HUMAN	I	36	ENSP00000306190:L36I;ENSP00000235739:L36I;ENSP00000438406:L36I;ENSP00000347333:L36I	ENSP00000235739:L36I	L	-	1	0	SLAMF1	158873914	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-1.437000	0.02419	-0.944000	0.03686	-0.440000	0.05779	CTC		0.473	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			4	36	1	0	0.150653	1	0.151909	4	36				
MIR182	406958	broad.mit.edu	37	7	129410237	129410237	+	RNA	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr7:129410237C>T	ENST00000385255.1	-	0	95					NR_029614.1				microRNA 182																		CGGCTGAGTCCTCGCCCCATA	0.632																																						ENST00000385255.1																			0																				43.0	44.0	44.0					7																	129410237		1568	3582	5150			406958							g.chr7:129410237C>T			7q32.2	2011-09-12		2008-12-18	ENSG00000207990	ENSG00000207990		"""ncRNAs / Micro RNAs"""	31553	non-coding RNA	RNA, micro		611607		MIRN182			Standard	NR_029614		Approved	hsa-mir-182	uc011kpb.1				7.37:g.129410237C>T								NR_029614.1						0	95	-									RNA	SNP	ENST00000385255.1	37																																																																																						0.632	MIR182-201	KNOWN	basic	miRNA	miRNA		NR_029614		3	40	0	0	0	1	0	3	40				
PCDH10	57575	broad.mit.edu	37	4	134071698	134071698	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr4:134071698G>A	ENST00000264360.5	+	1	1229	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	135	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTCTGAGAGCGCCACGCCAGG	0.607																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(403-405)Gcc>Acc		protocadherin 10							55.0	59.0	58.0					4																	134071698		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071698G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.403G>A	4.37:g.134071698G>A	ENSP00000264360:p.Ala135Thr						p.A135T	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1229	+			135			Cadherin 2.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.403G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610995	0.66558	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.21361	2.01	4.78	4.78	0.61160	Cadherin (2);Cadherin-like (1);	0.000000	0.44902	D	0.000401	T	0.39600	0.1084	L	0.43757	1.38	0.80722	D	1	D;P	0.89917	1.0;0.893	D;P	0.79784	0.993;0.545	T	0.10497	-1.0627	10	0.48119	T	0.1	.	17.5675	0.87924	0.0:0.0:1.0:0.0	.	135;135	Q9P2E7;Q96SF0	PCD10_HUMAN;.	T	135	ENSP00000264360:A135T	ENSP00000264360:A135T	A	+	1	0	PCDH10	134291148	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.657000	0.98554	2.467000	0.83353	0.555000	0.69702	GCC		0.607	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		30	134	0	0	0	1	0	30	134				
SCAF4	57466	broad.mit.edu	37	21	33068512	33068512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr21:33068512G>A	ENST00000286835.7	-	9	1364	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	SCAF4_ENST00000434667.3_Nonsense_Mutation_p.Q313*|SCAF4_ENST00000399804.1_Nonsense_Mutation_p.Q328*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	328						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCTGGCTGCTGCATGCCATCT	0.418																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(982-984)Cag>Tag		SR-related CTD-associated factor 4							202.0	188.0	193.0					21																	33068512		2203	4300	6503	SO:0001587	stop_gained	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33068512G>A	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.982C>T	21.37:g.33068512G>A	ENSP00000286835:p.Gln328*					SCAF4_ENST00000399804.1_Nonsense_Mutation_p.Q328*|SCAF4_ENST00000434667.3_Nonsense_Mutation_p.Q313*	p.Q328*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			9	1364	-			328					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Nonsense_Mutation	SNP	ENST00000286835.7	37	c.982C>T	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	42	9.383724	0.99155	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	.	.	.	5.58	5.58	0.84498	.	0.240590	0.38005	N	0.001858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-2.3729	19.9399	0.97155	0.0:0.0:1.0:0.0	.	.	.	.	X	313;328;328	.	ENSP00000286835:Q328X	Q	-	1	0	SCAF4	31990383	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.555000	0.82223	2.792000	0.96026	0.557000	0.71058	CAG		0.418	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		39	187	0	0	0	1	0	39	187				
KCNQ3	3786	broad.mit.edu	37	8	133196535	133196535	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr8:133196535C>A	ENST00000388996.4	-	3	977	c.557G>T	c.(556-558)gGc>gTc	p.G186V	KCNQ3_ENST00000519445.1_Missense_Mutation_p.G186V|KCNQ3_ENST00000521134.1_Missense_Mutation_p.G66V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	186					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GCCCCGCCAGCCTTTGTATCG	0.542																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(556-558)gGc>gTc		potassium voltage-gated channel, KQT-like subfamily, member 3							89.0	91.0	90.0					8																	133196535		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133196535C>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.557G>T	8.37:g.133196535C>A	ENSP00000373648:p.Gly186Val					KCNQ3_ENST00000519445.1_Missense_Mutation_p.G186V|KCNQ3_ENST00000521134.1_Missense_Mutation_p.G66V	p.G186V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		3	977	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		186					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.557G>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094923	0.94197	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99121	-5.45;-5.39;-5.45	5.87	5.87	0.94306	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99339	0.9768	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99529	1.0960	10	0.87932	D	0	-26.2749	19.1915	0.93669	0.0:1.0:0.0:0.0	.	186;186	E7ET42;O43525	.;KCNQ3_HUMAN	V	186;66;186;175;65	ENSP00000373648:G186V;ENSP00000429799:G66V;ENSP00000428790:G186V	ENSP00000373648:G186V	G	-	2	0	KCNQ3	133265717	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.773000	0.85462	2.779000	0.95612	0.655000	0.94253	GGC		0.542	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		30	187	1	0	2.08457e-15	1	2.42531e-15	30	187				
MROH7	374977	broad.mit.edu	37	1	55175809	55175809	+	Silent	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:55175809C>T	ENST00000421030.2	+	24	4206	c.3921C>T	c.(3919-3921)cgC>cgT	p.R1307R	MROH7-TTC4_ENST00000414150.2_Intron|MROH7_ENST00000409996.1_Silent_p.R875R|MROH7_ENST00000454855.2_Silent_p.R825R	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1307						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											ACCAGCGGCGCTCCTGGATCA	0.622																																						ENST00000421030.2																			0											c.(3919-3921)cgC>cgT		maestro heat-like repeat family member 7							34.0	36.0	35.0					1																	55175809		1965	4155	6120	SO:0001819	synonymous_variant	374977							g.chr1:55175809C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3921C>T	1.37:g.55175809C>T						MROH7_ENST00000409996.1_Silent_p.R875R|MROH7_ENST00000414150.2_Intron|MROH7_ENST00000454855.2_Silent_p.R825R	p.R1307R	NM_001039464.2	NP_001034553.2					24	4206	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.3921C>T	CCDS41342.2																																																																																				0.622	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		5	37	0	0	0	1	0	5	37				
TTN	7273	broad.mit.edu	37	2	179528398	179528398	+	Intron	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr2:179528398G>A	ENST00000591111.1	-	154	34489				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A12163V|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCACTGGCGCTTTCTTTTC	0.388																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(36487-36489)gCg>gTg		titin							308.0	311.0	310.0					2																	179528398		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179528398G>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.34265-4877C>T	2.37:g.179528398G>A						TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron	p.A12163V	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)		171	36712	-			10312			Ig-like 81.		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.36488C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.013|0.013	-1.622227|-1.622227	0.00820|0.00820	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000541862;ENST00000392423|ENST00000425332	.|.	.|.	.|.	4.73|4.73	3.54|3.54	0.40534|0.40534	.|.	.|.	.|.	.|.	.|.	T|T	0.55242|0.55242	0.1908|0.1908	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.45600|0.45600	-0.9250|-0.9250	7|4	0.15066|.	T|.	0.55|.	.|.	6.5355|6.5355	0.22350|0.22350	0.785:0.0:0.0776:0.1374|0.785:0.0:0.0776:0.1374	.|.	437|.	Q71S18|.	.|.	V|C	437;289|227	.|.	ENSP00000376219:A289V|.	A|R	-|-	2|1	0|0	TTN|TTN	179236643|179236643	0.000000|0.000000	0.05858|0.05858	0.312000|0.312000	0.25196|0.25196	0.092000|0.092000	0.18411|0.18411	-0.262000|-0.262000	0.08682|0.08682	0.245000|0.245000	0.21373|0.21373	-0.535000|-0.535000	0.04281|0.04281	GCG|CGC		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	244	0	0	0	1	0	35	244				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	29	0	0	0	1	0	4	29				
MB21D1	115004	broad.mit.edu	37	6	74135219	74135219	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr6:74135219A>G	ENST00000370315.3	-	5	1394	c.1300T>C	c.(1300-1302)Tct>Cct	p.S434P	MB21D1_ENST00000370318.1_Missense_Mutation_p.S434P	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	434					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						TGATAAGAAGAGAATTTATCC	0.373																																						ENST00000370315.3																			0				central_nervous_system(1)|large_intestine(4)|lung(1)	6						c.(1300-1302)Tct>Cct		Mab-21 domain containing 1							65.0	62.0	63.0					6																	74135219		2203	4300	6503	SO:0001583	missense	115004							g.chr6:74135219A>G	BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"""chromosome 6 open reading frame 150"""	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.1300T>C	6.37:g.74135219A>G	ENSP00000359339:p.Ser434Pro					MB21D1_ENST00000370318.1_Missense_Mutation_p.S434P	p.S434P	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN			5	1394	-			434					L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Missense_Mutation	SNP	ENST00000370315.3	37	c.1300T>C	CCDS4978.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994146	0.54041	.	.	ENSG00000164430	ENST00000370318;ENST00000370315;ENST00000296913	T;T	0.10192	2.9;2.9	5.8	1.98	0.26296	.	0.428492	0.24735	N	0.036036	T	0.02455	0.0075	N	0.14661	0.345	0.26471	N	0.975286	P	0.48911	0.917	P	0.45195	0.473	T	0.39231	-0.9624	10	0.56958	D	0.05	-4.962	5.6487	0.17604	0.7296:0.0:0.143:0.1275	.	434	Q8N884	M21D1_HUMAN	P	434;434;417	ENSP00000359342:S434P;ENSP00000359339:S434P	ENSP00000296913:S417P	S	-	1	0	MB21D1	74191940	1.000000	0.71417	0.996000	0.52242	0.656000	0.38851	3.385000	0.52485	1.039000	0.40074	0.528000	0.53228	TCT		0.373	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441		7	26	0	0	0	1	0	7	26				
TMEM132B	114795	broad.mit.edu	37	12	126138806	126138806	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr12:126138806A>T	ENST00000299308.3	+	9	2795	c.2787A>T	c.(2785-2787)aaA>aaT	p.K929N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.K441N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	929						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACAGACACAAAAGGTTTGCTG	0.502																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2785-2787)aaA>aaT		transmembrane protein 132B							106.0	104.0	105.0					12																	126138806		2031	4202	6233	SO:0001583	missense	114795					integral to membrane		g.chr12:126138806A>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2787A>T	12.37:g.126138806A>T	ENSP00000299308:p.Lys929Asn					TMEM132B_ENST00000535886.1_Missense_Mutation_p.K441N	p.K929N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2795	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		929					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2787A>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.474389	0.63737	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.14022	3.26;2.54	5.54	1.79	0.24919	.	0.083582	0.51477	D	0.000090	T	0.25791	0.0628	M	0.73962	2.25	0.54753	D	0.999986	D	0.55800	0.973	P	0.54270	0.747	T	0.01195	-1.1422	10	0.72032	D	0.01	.	8.86	0.35251	0.6883:0.0:0.3117:0.0	.	929	Q14DG7	T132B_HUMAN	N	929;441	ENSP00000299308:K929N;ENSP00000440436:K441N	ENSP00000299308:K929N	K	+	3	2	TMEM132B	124704759	1.000000	0.71417	0.963000	0.40424	0.971000	0.66376	1.512000	0.35812	0.058000	0.16222	0.533000	0.62120	AAA		0.502	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		9	103	0	0	0	1	0	9	103				
C20orf194	25943	broad.mit.edu	37	20	3295768	3295768	+	Splice_Site	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr20:3295768C>T	ENST00000252032.9	-	20	1658		c.e20-1		C20orf194_ENST00000453730.2_Splice_Site|C20orf194_ENST00000498079.1_Splice_Site	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194											NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ACTCATCCCCCTTTAAAAACA	0.388																																						ENST00000252032.9																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.e20-1		chromosome 20 open reading frame 194							102.0	99.0	100.0					20																	3295768		1844	4078	5922	SO:0001630	splice_region_variant	25943							g.chr20:3295768C>T	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1591-1G>A	20.37:g.3295768C>T						C20orf194_ENST00000453730.2_Splice_Site|C20orf194_ENST00000498079.1_Splice_Site		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			20	1658	-								Q66K86|Q6P2R9|Q9UFX9	Splice_Site	SNP	ENST00000252032.9	37		CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579131	0.65878	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2839	0.87136	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C20orf194	3243768	1.000000	0.71417	0.993000	0.49108	0.925000	0.55904	3.676000	0.54612	2.591000	0.87537	0.650000	0.86243	.		0.388	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	Intron	16	76	0	0	0	1	0	16	76				
SLC12A6	9990	broad.mit.edu	37	15	34546573	34546573	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr15:34546573G>A	ENST00000354181.3	-	9	1586	c.1094C>T	c.(1093-1095)tCt>tTt	p.S365F	SLC12A6_ENST00000458406.2_Missense_Mutation_p.S306F|SLC12A6_ENST00000560611.1_Missense_Mutation_p.S365F|SLC12A6_ENST00000560164.1_Missense_Mutation_p.S177F|SLC12A6_ENST00000397702.2_Missense_Mutation_p.S306F|SLC12A6_ENST00000451844.2_Missense_Mutation_p.S177F|SLC12A6_ENST00000558667.1_Missense_Mutation_p.S365F|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000290209.5_Missense_Mutation_p.S314F|SLC12A6_ENST00000397707.2_Missense_Mutation_p.S350F|SLC12A6_ENST00000558589.1_Missense_Mutation_p.S356F			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	365					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGCAAAAGAAGACTTGATGGC	0.453																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(1093-1095)tCt>tTt		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						131.0	119.0	123.0					15																	34546573		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34546573G>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1094C>T	15.37:g.34546573G>A	ENSP00000346112:p.Ser365Phe					SLC12A6_ENST00000558589.1_Missense_Mutation_p.S356F|SLC12A6_ENST00000558667.1_Missense_Mutation_p.S365F|SLC12A6_ENST00000451844.2_Missense_Mutation_p.S177F|SLC12A6_ENST00000560164.1_Missense_Mutation_p.S177F|SLC12A6_ENST00000458406.2_Missense_Mutation_p.S306F|SLC12A6_ENST00000397702.2_Missense_Mutation_p.S306F|SLC12A6_ENST00000397707.2_Missense_Mutation_p.S350F|SLC12A6_ENST00000560611.1_Missense_Mutation_p.S365F|SLC12A6_ENST00000290209.5_Missense_Mutation_p.S314F	p.S365F			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	9	1586	-		all_lung(180;2.78e-08)	365					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.1094C>T	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718401	0.89205	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;T	0.84516	-1.84;-1.86;-1.84;-1.84;-1.4	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.92407	0.7590	M	0.80508	2.5	0.80722	D	1	B;D;P;P	0.63046	0.317;0.992;0.537;0.956	B;D;B;P	0.70487	0.205;0.969;0.388;0.905	D	0.93232	0.6618	10	0.87932	D	0	.	17.4519	0.87594	0.0:0.0:1.0:0.0	.	350;365;314;177	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	F	314;350;356;306;306;177	ENSP00000290209:S314F;ENSP00000380819:S350F;ENSP00000380814:S306F;ENSP00000387725:S306F;ENSP00000390199:S177F	ENSP00000290209:S314F	S	-	2	0	SLC12A6	32333865	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	9.657000	0.98554	2.634000	0.89283	0.655000	0.94253	TCT		0.453	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		4	145	0	0	0	1	0	4	145				
KCNA2	3737	broad.mit.edu	37	1	111146157	111146157	+	Silent	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:111146157G>A	ENST00000485317.1	-	3	1921	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000440270.1_Silent_p.F416F|KCNA2_ENST00000525120.1_5'Flank|KCNA2_ENST00000316361.4_Silent_p.F416F			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	416					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	CCCGGTGGTAGAAGTAGTTGA	0.488																																					Pancreas(18;568 735 10587 23710 36357)	ENST00000485317.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1246-1248)ttC>ttT		potassium voltage-gated channel, shaker-related subfamily, member 2							140.0	133.0	135.0					1																	111146157		2203	4300	6503	SO:0001819	synonymous_variant	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111146157G>A	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.1248C>T	1.37:g.111146157G>A						KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000440270.1_Silent_p.F416F|KCNA2_ENST00000316361.4_Silent_p.F416F	p.F416F			P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	3	1921	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	416					Q86XG6	Silent	SNP	ENST00000485317.1	37	c.1248C>T	CCDS827.1																																																																																				0.488	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		18	91	0	0	0	1	0	18	91				
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr9:35906559A>C	ENST00000354323.2	+	1	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral component of membrane (GO:0016021)		p.H92P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682																																						ENST00000354323.2																			1	Substitution - Missense(1)	p.H92P(1)	prostate(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(274-276)cAc>cCc		histidine rich carboxyl terminus 1							24.0	19.0	20.0					9																	35906559		2189	4276	6465	SO:0001583	missense	646962					integral to membrane		g.chr9:35906559A>C		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.275A>C	9.37:g.35906559A>C	ENSP00000346283:p.His92Pro						p.H92P	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	371	+			92			His-rich.		B7ZBJ1	Missense_Mutation	SNP	ENST00000354323.2	37	c.275A>C	CCDS35012.1	.	.	.	.	.	.	.	.	.	.	A	6.244	0.413193	0.11812	.	.	ENSG00000196196	ENST00000354323	.	.	.	2.44	-4.88	0.03113	.	2.969780	0.02194	N	0.061627	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12682	-1.0538	9	0.87932	D	0	-35.0854	0.2739	0.00235	0.2845:0.1811:0.2905:0.2438	.	92	Q6UXD1	HRCT1_HUMAN	P	92	.	ENSP00000346283:H92P	H	+	2	0	HRCT1	35896559	0.200000	0.23398	0.000000	0.03702	0.183000	0.23260	0.845000	0.27668	-1.085000	0.03088	0.383000	0.25322	CAC		0.682	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		3	11	0	0	0	1	0	3	11				
SLITRK5	26050	broad.mit.edu	37	13	88328944	88328944	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr13:88328944G>A	ENST00000325089.6	+	2	1520	c.1301G>A	c.(1300-1302)gGg>gAg	p.G434E	SLITRK5_ENST00000400028.3_Missense_Mutation_p.G193E	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	434					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAGGCCACGGGGCTGGACCTC	0.572																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1300-1302)gGg>gAg		SLIT and NTRK-like family, member 5							77.0	70.0	73.0					13																	88328944		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328944G>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1301G>A	13.37:g.88328944G>A	ENSP00000366283:p.Gly434Glu					SLITRK5_ENST00000400028.3_Missense_Mutation_p.G193E	p.G434E	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1520	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		434					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1301G>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623416	0.66901	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.56941	0.43;0.43	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	N	0.10809	0.05	0.80722	D	1	P;D	0.55800	0.941;0.973	P;P	0.62885	0.9;0.908	T	0.52185	-0.8609	9	.	.	.	-13.0794	16.2866	0.82724	0.0:0.0:1.0:0.0	.	193;434	B4DSH5;O94991	.;SLIK5_HUMAN	E	434;193	ENSP00000366283:G434E;ENSP00000442244:G193E	.	G	+	2	0	SLITRK5	87126945	1.000000	0.71417	0.971000	0.41717	0.986000	0.74619	9.864000	0.99589	2.426000	0.82243	0.561000	0.74099	GGG		0.572	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			6	72	0	0	0	1	0	6	72				
PTP4A2	8073	broad.mit.edu	37	1	32377362	32377362	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:32377362T>A	ENST00000602725.1	-	3	672	c.255A>T	c.(253-255)ttA>ttT	p.L85F	AL136115.1_ENST00000391369.1_5'Flank|PTP4A2_ENST00000457805.2_Missense_Mutation_p.L54F|PTP4A2_ENST00000356536.3_Intron|PTP4A2_ENST00000344035.6_Missense_Mutation_p.L85F|PTP4A2_ENST00000470404.1_Intron|RP11-84A19.4_ENST00000602889.1_lincRNA			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	85	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				ATTTGGTTTTTAACAGGTTTA	0.383																																						ENST00000344035.6																			0				kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(253-255)ttA>ttT		protein tyrosine phosphatase type IVA, member 2							102.0	93.0	96.0					1																	32377362		2203	4300	6503	SO:0001583	missense	8073					early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr1:32377362T>A	L48723	CCDS348.1, CCDS53292.1, CCDS59193.1	1p35	2011-06-09			ENSG00000184007	ENSG00000184007		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9635	protein-coding gene	gene with protein product		601584		PTP4A		8661118, 9514946	Standard	NM_080391		Approved	HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2	uc001bty.2	Q12974	OTTHUMG00000003801	ENST00000602725.1:c.255A>T	1.37:g.32377362T>A	ENSP00000473259:p.Leu85Phe					PTP4A2_ENST00000602725.1_Missense_Mutation_p.L85F|PTP4A2_ENST00000470404.1_Intron|PTP4A2_ENST00000457805.2_Missense_Mutation_p.L54F|PTP4A2_ENST00000356536.3_Intron|RP11-84A19.4_ENST00000602889.1_lincRNA	p.L85F	NM_080391.3	NP_536316.1	Q12974	TP4A2_HUMAN			4	1248	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	85			Tyrosine-protein phosphatase.		A8K9I8|B4DM39|D3DPP0|E9PGJ6|O00649|Q15197|Q15259|Q15260|Q15261|R4GN50	Missense_Mutation	SNP	ENST00000602725.1	37	c.255A>T	CCDS348.1	.	.	.	.	.	.	.	.	.	.	T	19.79	3.892879	0.72524	.	.	ENSG00000184007	ENST00000344035;ENST00000457805	D;D	0.85088	-1.94;-1.94	4.99	4.99	0.66335	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.90484	0.7019	M	0.86268	2.805	0.80722	D	1	P;P	0.40909	0.612;0.732	P;P	0.57152	0.723;0.814	D	0.90878	0.4751	10	0.72032	D	0.01	-4.582	5.9853	0.19430	0.0:0.2169:0.0:0.7831	.	54;85	E9PGJ6;Q12974	.;TP4A2_HUMAN	F	85;54	ENSP00000344909:L85F;ENSP00000409260:L54F	ENSP00000344909:L85F	L	-	3	2	PTP4A2	32149949	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.884000	0.28214	2.013000	0.59113	0.533000	0.62120	TTA		0.383	PTP4A2-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468092.1	NM_080391		14	73	0	0	0	1	0	14	73				
PPIG	9360	broad.mit.edu	37	2	170489726	170489726	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr2:170489726C>A	ENST00000260970.3	+	12	1206	c.986C>A	c.(985-987)tCt>tAt	p.S329Y	PPIG_ENST00000462903.1_Missense_Mutation_p.S329Y|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000448752.2_Missense_Mutation_p.S329Y|PPIG_ENST00000409714.3_Missense_Mutation_p.S314Y	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	329					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GTTACTAGATCTGGCAGGAAA	0.373																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(985-987)tCt>tAt		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						67.0	65.0	66.0					2																	170489726		2203	4300	6503	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170489726C>A	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.986C>A	2.37:g.170489726C>A	ENSP00000260970:p.Ser329Tyr					PPIG_ENST00000448752.2_Missense_Mutation_p.S329Y|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.S314Y|PPIG_ENST00000462903.1_Missense_Mutation_p.S329Y	p.S329Y	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			12	1206	+			329					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.986C>A	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679702	0.68042	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752	T;T;T;T;T	0.30448	1.83;1.53;1.82;1.57;1.83	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.59702	0.2213	M	0.81341	2.54	0.80722	D	1	D;D;P;D;D	0.76494	0.999;0.998;0.952;0.997;0.998	D;D;B;D;D	0.83275	0.996;0.994;0.438;0.991;0.994	T	0.64795	-0.6323	10	0.87932	D	0	-7.6657	17.3056	0.87194	0.0:1.0:0.0:0.0	.	322;314;314;329;329	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	Y	329;329;322;314;329;329	ENSP00000260970:S329Y;ENSP00000408683:S322Y;ENSP00000386245:S314Y;ENSP00000435987:S329Y;ENSP00000407083:S329Y	ENSP00000260970:S329Y	S	+	2	0	PPIG	170197972	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.850000	0.75420	2.489000	0.83994	0.563000	0.77884	TCT		0.373	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			10	37	1	0	1.58986e-06	1	1.76489e-06	10	37				
MUC17	140453	broad.mit.edu	37	7	100676343	100676343	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr7:100676343G>A	ENST00000306151.4	+	3	1710	c.1646G>A	c.(1645-1647)aGt>aAt	p.S549N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	549	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTGAAGCCAGTTCATCTTCT	0.512																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1645-1647)aGt>aAt		mucin 17, cell surface associated							331.0	342.0	339.0					7																	100676343		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676343G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1646G>A	7.37:g.100676343G>A	ENSP00000302716:p.Ser549Asn						p.S549N	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	1710	+	Lung NSC(181;0.136)|all_lung(186;0.182)		549			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1646G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	2.573	-0.299243	0.05532	.	.	ENSG00000169876	ENST00000306151	T	0.02606	4.23	1.1	0.104	0.14531	.	.	.	.	.	T	0.01353	0.0044	N	0.24115	0.695	0.09310	N	1	P	0.47604	0.898	B	0.31686	0.134	T	0.45833	-0.9234	9	0.15066	T	0.55	.	3.2745	0.06893	0.0:0.3258:0.4004:0.2738	.	549	Q685J3	MUC17_HUMAN	N	549	ENSP00000302716:S549N	ENSP00000302716:S549N	S	+	2	0	MUC17	100463063	0.000000	0.05858	0.009000	0.14445	0.045000	0.14185	-3.884000	0.00342	0.042000	0.15717	0.501000	0.49751	AGT		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		205	530	0	0	0	1	0	205	530				
LZTS1	11178	broad.mit.edu	37	8	20107511	20107511	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr8:20107511C>T	ENST00000381569.1	-	4	1870	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	LZTS1_ENST00000265801.6_Missense_Mutation_p.E505K|LZTS1_ENST00000522290.1_Intron			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	505					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CGCAGCCGCTCCAGCTCCCGC	0.716																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1513-1515)Gag>Aag		leucine zipper, putative tumor suppressor 1							36.0	42.0	40.0					8																	20107511		2203	4296	6499	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20107511C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1513G>A	8.37:g.20107511C>T	ENSP00000370981:p.Glu505Lys					LZTS1_ENST00000265801.6_Missense_Mutation_p.E505K|LZTS1_ENST00000522290.1_Intron	p.E505K			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	4	1870	-			505					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.1513G>A	CCDS6015.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	20.2|20.2	3.942958|3.942958	0.73672|0.73672	.|.	.|.	ENSG00000061337|ENSG00000061337	ENST00000360248|ENST00000381569;ENST00000265801	.|T;T	.|0.51574	.|0.7;0.7	4.97|4.97	4.1|4.1	0.47936|0.47936	.|.	.|0.285522	.|0.38164	.|N	.|0.001782	.|T	.|0.49695	.|0.1572	M|M	0.76170|0.76170	2.325|2.325	0.49798|0.49798	D|D	0.999825|0.999825	.|B	.|0.31459	.|0.324	.|B	.|0.34536	.|0.185	.|T	.|0.51631	.|-0.8681	.|10	.|0.49607	.|T	.|0.09	.|-24.0738	11.9069|11.9069	0.52717|0.52717	0.0:0.9145:0.0:0.0855|0.0:0.9145:0.0:0.0855	.|.	.|505	.|Q9Y250	.|LZTS1_HUMAN	.|K	-1|505	.|ENSP00000370981:E505K;ENSP00000265801:E505K	.|ENSP00000265801:E505K	.|E	-|-	.|1	.|0	LZTS1|LZTS1	20151791|20151791	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	5.783000|5.783000	0.68982|0.68982	1.101000|1.101000	0.41535|0.41535	0.556000|0.556000	0.70494|0.70494	.|GAG		0.716	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		12	97	0	0	0	1	0	12	97				
SRCAP	10847	broad.mit.edu	37	16	30727716	30727716	+	Silent	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr16:30727716G>A	ENST00000262518.4	+	18	3118	c.2733G>A	c.(2731-2733)ccG>ccA	p.P911P	SRCAP_ENST00000395059.2_Silent_p.P911P|SRCAP_ENST00000344771.4_Silent_p.P911P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	911					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACCCTCGACCGGTTACCTCCC	0.512																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(2731-2733)ccG>ccA		Snf2-related CREBBP activator protein							287.0	289.0	289.0					16																	30727716		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30727716G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2733G>A	16.37:g.30727716G>A						SRCAP_ENST00000344771.4_Silent_p.P911P|SRCAP_ENST00000395059.2_Silent_p.P911P	p.P911P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		18	3118	+			911					B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.2733G>A	CCDS10689.2																																																																																				0.512	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		6	545	0	0	0	1	0	6	545				
LRRC17	10234	broad.mit.edu	37	7	102580025	102580025	+	Silent	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr7:102580025C>T	ENST00000339431.4	+	3	1216	c.921C>T	c.(919-921)atC>atT	p.I307I	LRRC17_ENST00000249377.4_Silent_p.I307I|FBXL13_ENST00000455112.2_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	307					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TTGAATTCATCGATCCTGGTA	0.373																																						ENST00000249377.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(919-921)atC>atT		leucine rich repeat containing 17							107.0	110.0	109.0					7																	102580025		2203	4300	6503	SO:0001819	synonymous_variant	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102580025C>T	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.921C>T	7.37:g.102580025C>T						FBXL13_ENST00000313221.4_Intron|LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000339431.4_Silent_p.I307I|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron	p.I307I	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN			3	1202	+			307					Q13288|Q6UWA7|Q75MG5	Silent	SNP	ENST00000339431.4	37	c.921C>T	CCDS34721.1																																																																																				0.373	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824		14	104	0	0	0	1	0	14	104				
IQCH	64799	broad.mit.edu	37	15	67709344	67709344	+	Missense_Mutation	SNP	C	C	T	rs142100170	byFrequency	TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr15:67709344C>T	ENST00000335894.4	+	15	2239	c.2173C>T	c.(2173-2175)Cgg>Tgg	p.R725W	IQCH_ENST00000546225.1_Missense_Mutation_p.R382W|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000360277.4_Missense_Mutation_p.R386W|IQCH_ENST00000358767.3_Missense_Mutation_p.R461W	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	725										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CAATGAGAAACGGTTCCCGAC	0.443													C|||	2	0.000399361	0.0	0.0	5008	,	,		17193	0.0		0.002	False		,,,				2504	0.0					ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(2173-2175)Cgg>Tgg		IQ motif containing H		C	TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	59.0	56.0	57.0		2173	4.1	1.0	15	dbSNP_134	57	17,8581	12.6+/-44.7	0,17,4282	yes	missense	IQCH	NM_001031715.2	101	0,18,6482	TT,TC,CC		0.1977,0.0227,0.1385	probably-damaging	725/1028	67709344	18,12982	2201	4299	6500	SO:0001583	missense	64799							g.chr15:67709344C>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2173C>T	15.37:g.67709344C>T	ENSP00000336861:p.Arg725Trp					IQCH_ENST00000358767.3_Missense_Mutation_p.R461W|IQCH_ENST00000360277.4_Missense_Mutation_p.R386W|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Missense_Mutation_p.R382W	p.R725W	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	15	2239	+			725					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.2173C>T	CCDS32273.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	17.89	3.499875	0.64298	2.27E-4	0.001977	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.47177	0.9;0.9;0.85;0.9	5.06	4.14	0.48551	.	0.129651	0.52532	D	0.000069	T	0.65729	0.2719	M	0.73598	2.24	0.41428	D	0.987841	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.69307	0.963;0.963;0.827	T	0.67799	-0.5577	10	0.42905	T	0.14	-12.3291	13.5034	0.61471	0.0:0.9242:0.0:0.0758	.	382;386;725	Q86VS3-2;Q86VS3-4;Q86VS3	.;.;IQCH_HUMAN	W	461;382;725;386	ENSP00000351617:R461W;ENSP00000444118:R382W;ENSP00000336861:R725W;ENSP00000353419:R386W	ENSP00000336861:R725W	R	+	1	2	IQCH	65496398	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.092000	0.57707	1.255000	0.44051	0.561000	0.74099	CGG		0.443	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		13	45	0	0	0	1	0	13	45				
AKR7A3	22977	broad.mit.edu	37	1	19612764	19612764	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:19612764C>T	ENST00000361640.4	-	2	857	c.317G>A	c.(316-318)cGa>cAa	p.R106Q		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	106					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)	p.R106Q(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGTCCACTCGGGGACACTG	0.592																																						ENST00000361640.4																			1	Substitution - Missense(1)	p.R106Q(1)	lung(1)	NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13						c.(316-318)cGa>cAa		aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)							71.0	76.0	75.0					1																	19612764		2199	4300	6499	SO:0001583	missense	22977				cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	g.chr1:19612764C>T	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"""Aldo-keto reductases"""	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.317G>A	1.37:g.19612764C>T	ENSP00000355377:p.Arg106Gln						p.R106Q	NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	857	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	106					Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Missense_Mutation	SNP	ENST00000361640.4	37	c.317G>A	CCDS193.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483839	0.26598	.	.	ENSG00000162482	ENST00000361640	T	0.04360	3.64	3.36	2.39	0.29439	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.04227	0.0117	L	0.33093	0.98	0.21782	N	0.999542	B	0.14438	0.01	B	0.06405	0.002	T	0.43605	-0.9381	9	0.23302	T	0.38	.	8.4958	0.33127	0.0:0.8717:0.0:0.1283	.	106	O95154	ARK73_HUMAN	Q	106	ENSP00000355377:R106Q	ENSP00000355377:R106Q	R	-	2	0	AKR7A3	19485351	0.001000	0.12720	0.845000	0.33349	0.611000	0.37282	1.222000	0.32515	0.553000	0.29044	0.194000	0.17425	CGA		0.592	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067		26	129	0	0	0	1	0	26	129				
WSCD2	9671	broad.mit.edu	37	12	108620880	108620880	+	Silent	SNP	G	G	A	rs367674517		TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr12:108620880G>A	ENST00000332082.4	+	7	1736	c.918G>A	c.(916-918)gcG>gcA	p.A306A	WSCD2_ENST00000549903.1_Silent_p.A306A|WSCD2_ENST00000261400.3_Silent_p.A306A|WSCD2_ENST00000547525.1_Silent_p.A306A			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	306	WSC 2. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)		p.A306A(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AGTGCAGCGCGGAGGAGTTTG	0.592																																						ENST00000332082.4																			1	Substitution - coding silent(1)	p.A306A(1)	large_intestine(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(916-918)gcG>gcA		WSC domain containing 2		G		0,4038		0,0,2019	65.0	69.0	68.0		918	-10.9	0.1	12		68	1,8339		0,1,4169	no	coding-synonymous	WSCD2	NM_014653.2		0,1,6188	AA,AG,GG		0.012,0.0,0.0081		306/566	108620880	1,12377	2019	4170	6189	SO:0001819	synonymous_variant	9671					integral to membrane		g.chr12:108620880G>A		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.918G>A	12.37:g.108620880G>A						WSCD2_ENST00000547525.1_Silent_p.A306A|WSCD2_ENST00000549903.1_Silent_p.A306A|WSCD2_ENST00000261400.3_Silent_p.A306A	p.A306A			Q2TBF2	WSCD2_HUMAN			7	1736	+			306			WSC 2.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	c.918G>A	CCDS41828.1																																																																																				0.592	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		20	99	0	0	0	1	0	20	99				
MYT1L	23040	broad.mit.edu	37	2	1843078	1843078	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr2:1843078C>T	ENST00000399161.2	-	21	3670	c.2923G>A	c.(2923-2925)Gcc>Acc	p.A975T	MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000428368.2_Missense_Mutation_p.A973T|MYT1L_ENST00000471668.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	975					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CACCCGGAGGCGCTGCGATGG	0.632																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2923-2925)Gcc>Acc		myelin transcription factor 1-like							47.0	55.0	53.0					2																	1843078		2024	4147	6171	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1843078C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2923G>A	2.37:g.1843078C>T	ENSP00000382114:p.Ala975Thr					MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000428368.2_Missense_Mutation_p.A973T	p.A975T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	21	3670	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	975					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.2923G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.159273	0.94686	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000399157;ENST00000428368	T;T	0.54866	0.55;0.55	5.76	4.87	0.63330	.	0.097445	0.64402	D	0.000001	T	0.72179	0.3428	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76019	-0.3112	10	0.66056	D	0.02	-32.4893	16.7337	0.85442	0.0:0.8707:0.1293:0.0	.	975;973	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	T	975;921;29;973	ENSP00000382114:A975T;ENSP00000396103:A973T	ENSP00000295067:A921T	A	-	1	0	MYT1L	1822085	1.000000	0.71417	0.870000	0.34147	0.804000	0.45430	7.755000	0.85180	1.400000	0.46741	0.563000	0.77884	GCC		0.632	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		17	98	0	0	0	1	0	17	98				
ZNF233	353355	broad.mit.edu	37	19	44778750	44778750	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr19:44778750A>C	ENST00000391958.2	+	5	2064	c.1937A>C	c.(1936-1938)aAa>aCa	p.K646T	ZNF233_ENST00000334152.1_Missense_Mutation_p.K628T|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	646					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				ACTGGAGAGAAACCATACAAA	0.418																																						ENST00000391958.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(1936-1938)aAa>aCa		zinc finger protein 233							96.0	101.0	99.0					19																	44778750		2203	4300	6503	SO:0001583	missense	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44778750A>C	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1937A>C	19.37:g.44778750A>C	ENSP00000375820:p.Lys646Thr					ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.K628T	p.K646T	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN			5	2064	+		Prostate(69;0.0435)|all_neural(266;0.226)	646					B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	c.1937A>C	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.677351	0.68042	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.24908	1.83;1.83	4.08	4.08	0.47627	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50565	0.1623	M	0.78285	2.405	0.35028	D	0.758489	D	0.76494	0.999	D	0.85130	0.997	T	0.66352	-0.5945	9	0.72032	D	0.01	-14.4745	12.3337	0.55054	1.0:0.0:0.0:0.0	.	646	A6NK53	ZN233_HUMAN	T	628;646;541	ENSP00000334957:K628T;ENSP00000375820:K646T	ENSP00000280305:K541T	K	+	2	0	ZNF233	49470590	0.534000	0.26362	0.576000	0.28549	0.935000	0.57460	1.300000	0.33436	1.620000	0.50308	0.496000	0.49642	AAA		0.418	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		45	61	0	0	0	1	0	45	61				
GRIN2B	2904	broad.mit.edu	37	12	13716227	13716227	+	Silent	SNP	G	G	A	rs200657400		TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr12:13716227G>A	ENST00000609686.1	-	13	4154	c.3945C>T	c.(3943-3945)gcC>gcT	p.A1315A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1315					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGGCCAGGGCGGCTTCTTCCT	0.597																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3943-3945)gcC>gcT		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						71.0	81.0	77.0					12																	13716227		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716227G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3945C>T	12.37:g.13716227G>A							p.A1315A	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	4154	-			1315					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3945C>T	CCDS8662.1																																																																																				0.597	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			23	117	0	0	0	1	0	23	117				
ZNF592	9640	broad.mit.edu	37	15	85345396	85345396	+	Silent	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr15:85345396G>A	ENST00000560079.2	+	11	3864	c.3576G>A	c.(3574-3576)gcG>gcA	p.A1192A	ZNF592_ENST00000299927.3_Silent_p.A1192A	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	1192					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGGCGGCAGCGGAGATGGCAG	0.617																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(3574-3576)gcG>gcA		zinc finger protein 592							11.0	14.0	13.0					15																	85345396		2195	4262	6457	SO:0001819	synonymous_variant	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85345396G>A	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.3576G>A	15.37:g.85345396G>A						ZNF592_ENST00000560079.2_Silent_p.A1192A	p.A1192A			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		8	3598	+			1192					Q2M1T2|Q504Y9	Silent	SNP	ENST00000560079.2	37	c.3576G>A	CCDS32317.1																																																																																				0.617	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		7	25	0	0	0	1	0	7	25				
CTNNA2	1496	broad.mit.edu	37	2	79971609	79971609	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr2:79971609G>A	ENST00000402739.4	+	2	204	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	CTNNA2_ENST00000466387.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A101T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A67T	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	67					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGTAGAGCAAGCCACTCAGAA	0.468																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(199-201)Gcc>Acc		catenin (cadherin-associated protein), alpha 2							83.0	85.0	84.0					2																	79971609		1942	4132	6074	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:79971609G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.199G>A	2.37:g.79971609G>A	ENSP00000384638:p.Ala67Thr					CTNNA2_ENST00000402739.4_Missense_Mutation_p.A67T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A101T	p.A67T			P26232	CTNA2_HUMAN			7	923	+			67					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.199G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.372209	0.95923	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000409971;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;0.53;-0.16;-0.16;-0.16;-0.16	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.73666	0.3616	M	0.85373	2.75	0.80722	D	1	P;D;P	0.57571	0.926;0.98;0.909	P;P;P	0.49887	0.451;0.625;0.493	T	0.76680	-0.2870	10	0.41790	T	0.15	.	16.8625	0.86021	0.0:0.0:1.0:0.0	.	67;67;67	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	T	67;67;67;101;67;67;67	ENSP00000418191:A67T;ENSP00000419295:A67T;ENSP00000387073:A67T;ENSP00000355398:A101T;ENSP00000384638:A67T;ENSP00000444675:A67T;ENSP00000441705:A67T	ENSP00000355398:A101T	A	+	1	0	CTNNA2	79825117	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.582000	0.87167	0.460000	0.39030	GCC		0.468	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		5	49	0	0	0	1	0	5	49				
DDX60L	91351	broad.mit.edu	37	4	169315637	169315637	+	Silent	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr4:169315637G>A	ENST00000511577.1	-	28	4036	c.3789C>T	c.(3787-3789)ctC>ctT	p.L1263L	DDX60L_ENST00000260184.7_Silent_p.L1263L|DDX60L_ENST00000505890.1_Silent_p.L1264L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1263	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTTTTACAAAGAGTATCTCAA	0.323																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(3787-3789)ctC>ctT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							78.0	72.0	74.0					4																	169315637		1814	4071	5885	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169315637G>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3789C>T	4.37:g.169315637G>A						DDX60L_ENST00000505890.1_Silent_p.L1264L|DDX60L_ENST00000260184.7_Silent_p.L1263L	p.L1263L			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	28	4036	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1263			Helicase C-terminal.		Q96ND6	Silent	SNP	ENST00000511577.1	37	c.3789C>T		.	.	.	.	.	.	.	.	.	.	G	7.172	0.587841	0.13812	.	.	ENSG00000181381	ENST00000514580	T	0.61980	0.06	3.16	0.264	0.15607	.	0.000000	0.32819	U	0.005602	T	0.65554	0.2702	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62666	-0.6806	7	0.87932	D	0	.	7.4826	0.27415	0.4294:0.0:0.5706:0.0	.	.	.	.	F	151	ENSP00000422920:L151F	ENSP00000422920:L151F	L	-	1	0	DDX60L	169552212	0.975000	0.34042	0.080000	0.20451	0.385000	0.30292	-0.168000	0.09925	-0.300000	0.08895	0.467000	0.42956	CTT		0.323	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		4	28	0	0	0	1	0	4	28				
OR4A5	81318	broad.mit.edu	37	11	51411686	51411686	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr11:51411686C>A	ENST00000319760.6	-	1	762	c.710G>T	c.(709-711)tGc>tTc	p.C237F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GCCGGAGCTGCAGGTAGACAA	0.408																																						ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(709-711)tGc>tTc		olfactory receptor, family 4, subfamily A, member 5							64.0	63.0	63.0					11																	51411686		2201	4295	6496	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411686C>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.710G>T	11.37:g.51411686C>A	ENSP00000367664:p.Cys237Phe						p.C237F	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	762	-		all_lung(304;0.236)	237					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.710G>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	10.42	1.345800	0.24426	.	.	ENSG00000221840	ENST00000319760	T	0.00368	7.75	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000082	T	0.01695	0.0054	H	0.98883	4.36	0.39935	D	0.974331	D	0.89917	1.0	D	0.81914	0.995	T	0.14392	-1.0474	10	0.87932	D	0	.	9.9079	0.41388	0.0:1.0:0.0:0.0	.	237	Q8NH83	OR4A5_HUMAN	F	237	ENSP00000367664:C237F	ENSP00000367664:C237F	C	-	2	0	OR4A5	51268262	1.000000	0.71417	0.598000	0.28837	0.047000	0.14425	6.067000	0.71193	1.394000	0.46624	0.162000	0.16502	TGC		0.408	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		12	70	1	0	6.40141e-05	1	6.79448e-05	12	70				
HERC2P9	440248	broad.mit.edu	37	15	28900606	28900606	+	RNA	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr15:28900606C>T	ENST00000528584.1	+	0	162					NR_036443.1				hect domain and RLD 2 pseudogene 9																		TGGTGAAGAGCGGTGCAGCAG	0.612																																						ENST00000528584.1																			0																																																			440248							g.chr15:28900606C>T	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28900606C>T								NR_036443.1						0	162	+									RNA	SNP	ENST00000528584.1	37																																																																																						0.612	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		5	24	0	0	0	1	0	5	24				
HIST1H3H	8357	broad.mit.edu	37	6	27777869	27777869	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr6:27777869G>T	ENST00000369163.2	+	1	28	c.18G>T	c.(16-18)caG>caT	p.Q6H	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	6					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						GTACGAAGCAGACTGCTCGCA	0.582																																						ENST00000369163.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						c.(16-18)caG>caT		histone cluster 1, H3h							42.0	47.0	45.0					6																	27777869		2201	4298	6499	SO:0001583	missense	8357				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27777869G>T	Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"""Histones / Replication-dependent"""	4775	protein-coding gene	gene with protein product		602818	"""H3 histone family, member K"", ""histone 1, H3h"""	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.18G>T	6.37:g.27777869G>T	ENSP00000358160:p.Gln6His						p.Q6H	NM_003536.2	NP_003527.1	P68431	H31_HUMAN			1	28	+			6					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000369163.2	37	c.18G>T	CCDS4627.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.321954	0.23994	.	.	ENSG00000203813	ENST00000369163	T	0.46819	0.86	4.18	4.18	0.49190	.	.	.	.	.	T	0.57858	0.2082	.	.	.	0.44123	D	0.996902	.	.	.	.	.	.	T	0.65134	-0.6242	6	0.87932	D	0	.	16.3581	0.83244	0.0:0.0:1.0:0.0	.	.	.	.	H	6	ENSP00000358160:Q6H	ENSP00000358160:Q6H	Q	+	3	2	HIST1H3H	27885848	1.000000	0.71417	1.000000	0.80357	0.154000	0.21943	3.059000	0.49947	2.258000	0.74832	0.655000	0.94253	CAG		0.582	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040151.1	NM_003536		13	106	1	0	9.31168e-06	1	1.01506e-05	13	106				
ACSL6	23305	broad.mit.edu	37	5	131329909	131329909	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr5:131329909G>A	ENST00000379240.1	-	2	163	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	ACSL6_ENST00000296869.4_Nonsense_Mutation_p.Q29*|ACSL6_ENST00000379255.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000379264.2_Nonsense_Mutation_p.Q29*|ACSL6_ENST00000379246.1_Nonsense_Mutation_p.Q15*|ACSL6_ENST00000379244.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000379272.2_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000543479.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000357096.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000379249.3_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000431707.1_Nonsense_Mutation_p.Q4*			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	4					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGATCTCCTGTGTCTGCATC	0.557																																						ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(85-87)Cag>Tag		acyl-CoA synthetase long-chain family member 6							59.0	49.0	52.0					5																	131329909		2203	4300	6503	SO:0001587	stop_gained	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131329909G>A	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.10C>T	5.37:g.131329909G>A	ENSP00000368542:p.Gln4*					ACSL6_ENST00000379249.3_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000379244.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000379246.1_Nonsense_Mutation_p.Q15*|ACSL6_ENST00000431707.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000379272.2_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000379240.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000296869.4_Nonsense_Mutation_p.Q29*|ACSL6_ENST00000543479.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000379255.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000357096.1_Nonsense_Mutation_p.Q4*	p.Q29*	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	193	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	4					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Nonsense_Mutation	SNP	ENST00000379240.1	37	c.85C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.720830	0.98929	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099;ENST00000430403;ENST00000419502;ENST00000416557;ENST00000414078;ENST00000441995	.	.	.	5.6	5.6	0.85130	.	0.178291	0.51477	D	0.000099	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	15.1393	0.72599	0.0:0.1408:0.8592:0.0	.	.	.	.	X	4;29;4;4;4;29;15;4;4;4;4;4;4;4;4;4;4	.	ENSP00000296869:Q29X	Q	-	1	0	ACSL6	131357808	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.884000	0.87274	2.645000	0.89757	0.591000	0.81541	CAG		0.557	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		6	23	0	0	0	1	0	6	23				
TP73	7161	broad.mit.edu	37	1	3599708	3599708	+	Silent	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:3599708C>T	ENST00000378295.4	+	3	305	c.150C>T	c.(148-150)gaC>gaT	p.D50D	TP73_ENST00000604479.1_Silent_p.D50D|TP73_ENST00000357733.3_Silent_p.D50D|TP73_ENST00000603362.1_Silent_p.D50D|TP73_ENST00000354437.4_Silent_p.D50D|TP73_ENST00000604074.1_Silent_p.D50D|TP73_ENST00000346387.4_Silent_p.D50D	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	50	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CCAGCATGGACGTCTTCCACC	0.602																																						ENST00000378295.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20						c.(148-150)gaC>gaT		tumor protein p73							123.0	117.0	119.0					1																	3599708		2203	4300	6503	SO:0001819	synonymous_variant	7161				cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3599708C>T	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.150C>T	1.37:g.3599708C>T						TP73_ENST00000346387.4_Silent_p.D50D|TP73_ENST00000604074.1_Silent_p.D50D|TP73_ENST00000357733.3_Silent_p.D50D|TP73_ENST00000354437.4_Silent_p.D50D|TP73_ENST00000603362.1_Silent_p.D50D|TP73_ENST00000604479.1_Silent_p.D50D	p.D50D	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	3	305	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	50			Asp/Glu-rich (acidic).		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Silent	SNP	ENST00000378295.4	37	c.150C>T	CCDS49.1																																																																																				0.602	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		22	130	0	0	0	1	0	22	130				
SLFNL1	200172	broad.mit.edu	37	1	41483450	41483450	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:41483450G>A	ENST00000359345.1	-	2	3390	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	SLFNL1_ENST00000302946.8_Missense_Mutation_p.R272C|SLFNL1_ENST00000372611.1_Missense_Mutation_p.R213C|SLFNL1_ENST00000439569.2_Missense_Mutation_p.R272C|SLFNL1_ENST00000397197.2_Missense_Mutation_p.R272C|SLFNL1_ENST00000372613.2_Missense_Mutation_p.R272C	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	272							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				TGGCTGCAGCGGATGCCCTGC	0.647																																						ENST00000359345.1																			0				endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(814-816)Cgc>Tgc		schlafen-like 1							56.0	52.0	54.0					1																	41483450		2203	4300	6503	SO:0001583	missense	200172						ATP binding	g.chr1:41483450G>A	BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.814C>T	1.37:g.41483450G>A	ENSP00000352299:p.Arg272Cys					SLFNL1_ENST00000439569.2_Missense_Mutation_p.R272C|SLFNL1_ENST00000372613.2_Missense_Mutation_p.R272C|SLFNL1_ENST00000372611.1_Missense_Mutation_p.R213C|SLFNL1_ENST00000302946.8_Missense_Mutation_p.R272C|SLFNL1_ENST00000397197.2_Missense_Mutation_p.R272C	p.R272C	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN			2	3390	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)	272					A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	ENST00000359345.1	37	c.814C>T	CCDS460.1	.	.	.	.	.	.	.	.	.	.	G	9.598	1.128000	0.20959	.	.	ENSG00000171790	ENST00000302946;ENST00000372613;ENST00000372611;ENST00000359345;ENST00000439569;ENST00000397197	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.42	4.5	0.54988	.	0.453272	0.21212	N	0.078285	T	0.27454	0.0674	L	0.58101	1.795	0.29859	N	0.827804	B;B;B	0.29232	0.143;0.008;0.238	B;B;B	0.20955	0.019;0.003;0.032	T	0.24048	-1.0171	10	0.59425	D	0.04	-30.2407	9.1068	0.36703	0.0973:0.0:0.9027:0.0	.	272;213;272	Q499Z3-3;Q499Z3-2;Q499Z3	.;.;SLNL1_HUMAN	C	272;272;213;272;272;272	ENSP00000304401:R272C;ENSP00000361696:R272C;ENSP00000361694:R213C;ENSP00000352299:R272C;ENSP00000398938:R272C;ENSP00000380381:R272C	ENSP00000304401:R272C	R	-	1	0	SLFNL1	41256037	0.150000	0.22732	0.999000	0.59377	0.016000	0.09150	0.865000	0.27940	2.539000	0.85634	0.561000	0.74099	CGC		0.647	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990		14	100	0	0	0	1	0	14	100				
CSF1R	1436	broad.mit.edu	37	5	149459795	149459795	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr5:149459795C>T	ENST00000286301.3	-	4	703	c.412G>A	c.(412-414)Gtc>Atc	p.V138I	CSF1R_ENST00000543093.1_Missense_Mutation_p.V138I	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	138	Ig-like C2-type 2.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ACCAGCGAGACGCCTGCTTCC	0.637																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(412-414)Gtc>Atc		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						63.0	55.0	58.0					5																	149459795		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149459795C>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.412G>A	5.37:g.149459795C>T	ENSP00000286301:p.Val138Ile					CSF1R_ENST00000543093.1_Missense_Mutation_p.V138I	p.V138I	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		4	703	-			138			Ig-like C2-type 2.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.412G>A	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310149	0.23821	.	.	ENSG00000182578	ENST00000286301;ENST00000543093	T;T	0.05855	3.38;3.38	4.62	3.75	0.43078	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.268921	0.26032	N	0.026759	T	0.10937	0.0267	L	0.53249	1.67	0.09310	N	0.999999	D;D;D	0.63880	0.984;0.993;0.967	P;P;B	0.53360	0.484;0.724;0.179	T	0.14476	-1.0471	10	0.19590	T	0.45	.	8.6589	0.34079	0.0:0.8926:0.0:0.1074	.	138;138;138	B4DG86;B5A955;P07333	.;.;CSF1R_HUMAN	I	138	ENSP00000286301:V138I;ENSP00000445282:V138I	ENSP00000286301:V138I	V	-	1	0	CSF1R	149439988	0.777000	0.28628	0.043000	0.18650	0.022000	0.10575	1.328000	0.33758	1.068000	0.40764	0.561000	0.74099	GTC		0.637	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		10	61	0	0	0	1	0	10	61				
SCAF4	57466	broad.mit.edu	37	21	33065709	33065709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr21:33065709G>A	ENST00000286835.7	-	12	1793	c.1411C>T	c.(1411-1413)Cga>Tga	p.R471*	SCAF4_ENST00000434667.3_Nonsense_Mutation_p.R456*|SCAF4_ENST00000399804.1_Nonsense_Mutation_p.R471*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	471						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R471*(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGAGAATGTCGGCGTCTATCC	0.498																																						ENST00000286835.7																			1	Substitution - Nonsense(1)	p.R471*(1)	endometrium(1)	NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1411-1413)Cga>Tga		SR-related CTD-associated factor 4							109.0	94.0	99.0					21																	33065709		2203	4300	6503	SO:0001587	stop_gained	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33065709G>A	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1411C>T	21.37:g.33065709G>A	ENSP00000286835:p.Arg471*					SCAF4_ENST00000399804.1_Nonsense_Mutation_p.R471*|SCAF4_ENST00000434667.3_Nonsense_Mutation_p.R456*	p.R471*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			12	1793	-			471					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Nonsense_Mutation	SNP	ENST00000286835.7	37	c.1411C>T	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	43	10.502297	0.99417	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	.	.	.	5.2	3.28	0.37604	.	0.080670	0.52532	D	0.000079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7988	13.7539	0.62923	0.0:0.0:0.7198:0.2802	.	.	.	.	X	456;471;471	.	ENSP00000286835:R471X	R	-	1	2	SCAF4	31987580	0.686000	0.27661	0.999000	0.59377	0.997000	0.91878	1.005000	0.29834	0.491000	0.27793	0.557000	0.71058	CGA		0.498	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		10	56	0	0	0	1	0	10	56				
DCC	1630	broad.mit.edu	37	18	50278661	50278661	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr18:50278661C>T	ENST00000442544.2	+	2	945	c.329C>T	c.(328-330)cCa>cTa	p.P110L	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	110	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACCACAAGCCAGATGAGGGA	0.448																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(328-330)cCa>cTa		deleted in colorectal carcinoma							145.0	133.0	137.0					18																	50278661		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50278661C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.329C>T	18.37:g.50278661C>T	ENSP00000389140:p.Pro110Leu					DCC_ENST00000412726.1_5'UTR	p.P110L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	2	945	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	110			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.329C>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750285	0.49257	.	.	ENSG00000187323	ENST00000442544;ENST00000304775	T	0.12255	2.7	5.3	5.3	0.74995	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.29914	0.0748	L	0.41027	1.25	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.01090	-1.1455	10	0.59425	D	0.04	.	17.7261	0.88365	0.0:1.0:0.0:0.0	.	110	P43146	DCC_HUMAN	L	110;43	ENSP00000389140:P110L	ENSP00000304146:P43L	P	+	2	0	DCC	48532659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.500000	0.81588	2.471000	0.83476	0.655000	0.94253	CCA		0.448	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		13	102	0	0	0	1	0	13	102				
MKRN3	7681	broad.mit.edu	37	15	23811363	23811363	+	Missense_Mutation	SNP	C	C	T	rs371642799		TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr15:23811363C>T	ENST00000314520.3	+	1	910	c.434C>T	c.(433-435)aCg>aTg	p.T145M	MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	145			T -> M (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T145M(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGCCCTAGCACGGCTGCGCAC	0.652																																						ENST00000314520.3																			1	Substitution - Missense(1)	p.T145M(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(433-435)aCg>aTg		makorin ring finger protein 3		C	MET/THR	0,4406		0,0,2203	33.0	35.0	34.0		434	0.2	0.0	15		34	2,8598	2.2+/-6.3	0,2,4298	no	missense	MKRN3	NM_005664.3	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	145/508	23811363	2,13004	2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811363C>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.434C>T	15.37:g.23811363C>T	ENSP00000313881:p.Thr145Met					MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	p.T145M	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	910	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	145		T -> M (in a colorectal cancer sample; somatic mutation).				Missense_Mutation	SNP	ENST00000314520.3	37	c.434C>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297505	0.23650	0.0	2.33E-4	ENSG00000179455	ENST00000314520	T	0.31769	1.48	3.87	0.223	0.15292	.	0.211126	0.47455	N	0.000239	T	0.11410	0.0278	N	0.04508	-0.205	0.09310	N	1	B	0.22211	0.066	B	0.09377	0.004	T	0.16660	-1.0395	10	0.45353	T	0.12	.	6.1212	0.20154	0.0:0.5913:0.0:0.4087	.	145	Q13064	MKRN3_HUMAN	M	145	ENSP00000313881:T145M	ENSP00000313881:T145M	T	+	2	0	MKRN3	21362456	0.032000	0.19561	0.005000	0.12908	0.050000	0.14768	-0.138000	0.10374	0.038000	0.15604	0.655000	0.94253	ACG		0.652	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		7	68	0	0	0	1	0	7	68				
GRAMD3	65983	broad.mit.edu	37	5	125813462	125813462	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr5:125813462G>T	ENST00000285689.3	+	6	1026	c.565G>T	c.(565-567)Gca>Tca	p.A189S	RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000542322.1_Missense_Mutation_p.A197S|GRAMD3_ENST00000513040.1_Missense_Mutation_p.A204S|GRAMD3_ENST00000543198.1_Missense_Mutation_p.A166S|GRAMD3_ENST00000544396.1_Missense_Mutation_p.A85S|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000515200.1_Missense_Mutation_p.A166S|GRAMD3_ENST00000511134.1_Missense_Mutation_p.A173S|GRAMD3_ENST00000502348.1_Missense_Mutation_p.A80S	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	189						cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		CCTGATCATAGCAACAGTCAC	0.493																																						ENST00000285689.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(565-567)Gca>Tca		GRAM domain containing 3							100.0	101.0	101.0					5																	125813462		2203	4300	6503	SO:0001583	missense	65983							g.chr5:125813462G>T	BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"""HCV NS3 transactivated protein 2"""					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.565G>T	5.37:g.125813462G>T	ENSP00000285689:p.Ala189Ser					GRAMD3_ENST00000511134.1_Missense_Mutation_p.A173S|GRAMD3_ENST00000513040.1_Missense_Mutation_p.A204S|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000543198.1_Missense_Mutation_p.A166S|GRAMD3_ENST00000544396.1_Missense_Mutation_p.A85S|GRAMD3_ENST00000542322.1_Missense_Mutation_p.A197S|GRAMD3_ENST00000502348.1_Missense_Mutation_p.A80S|GRAMD3_ENST00000515200.1_Missense_Mutation_p.A166S	p.A189S	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)	6	1026	+		Prostate(80;0.0928)	189					B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Missense_Mutation	SNP	ENST00000285689.3	37	c.565G>T	CCDS4136.1	.	.	.	.	.	.	.	.	.	.	G	7.728	0.698707	0.15106	.	.	ENSG00000155324	ENST00000513040;ENST00000506445;ENST00000543367;ENST00000285689;ENST00000515200;ENST00000542322;ENST00000544396;ENST00000543198;ENST00000502348;ENST00000511134	T;T;T;T;T;T;T;T;T	0.28895	1.59;1.65;1.61;1.61;1.6;1.61;1.61;1.6;1.62	5.55	0.243	0.15503	.	0.505833	0.24029	N	0.042215	T	0.14356	0.0347	L	0.28115	0.83	0.09310	N	1	B;B;B;B;B	0.22909	0.009;0.01;0.077;0.02;0.007	B;B;B;B;B	0.22152	0.004;0.009;0.038;0.011;0.011	T	0.26643	-1.0097	10	0.09084	T	0.74	.	4.3607	0.11201	0.2742:0.0:0.3951:0.3307	.	173;85;197;204;189	B7Z8T2;B7Z1F2;B7Z3R1;B7Z6D8;Q96HH9	.;.;.;.;GRAM3_HUMAN	S	204;203;173;189;166;197;85;166;80;173	ENSP00000426120:A204S;ENSP00000424985:A203S;ENSP00000285689:A189S;ENSP00000426143:A166S;ENSP00000441876:A197S;ENSP00000444049:A85S;ENSP00000442902:A166S;ENSP00000427596:A80S;ENSP00000426088:A173S	ENSP00000285689:A189S	A	+	1	0	GRAMD3	125841361	0.462000	0.25791	0.120000	0.21714	0.597000	0.36814	1.070000	0.30653	0.087000	0.17167	0.655000	0.94253	GCA		0.493	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250922.2	NM_023927		15	89	1	0	9.16793e-09	1	1.03675e-08	15	89				
MUC5B	727897	broad.mit.edu	37	11	1269115	1269115	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr11:1269115G>A	ENST00000529681.1	+	31	11063	c.11005G>A	c.(11005-11007)Ggc>Agc	p.G3669S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.G3672S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3669	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGCAACTACGGCCACTGCCC	0.592																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11014-11016)Ggc>Agc		mucin 5B, oligomeric mucus/gel-forming							45.0	63.0	57.0					11																	1269115		1956	4105	6061	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269115G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11005G>A	11.37:g.1269115G>A	ENSP00000436812:p.Gly3669Ser					MUC5B_ENST00000529681.1_Missense_Mutation_p.G3669S|RP11-532E4.2_ENST00000532061.2_RNA	p.G3672S			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11072	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3669	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11014G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	9.830	1.188114	0.21954	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15718	2.4;2.59	3.02	-6.03	0.02185	.	.	.	.	.	T	0.06142	0.0159	N	0.01297	-0.9	0.09310	N	1	P;B	0.46987	0.888;0.001	P;B	0.45946	0.498;0.0	T	0.38735	-0.9647	9	0.87932	D	0	.	6.5154	0.22244	0.1891:0.0:0.5006:0.3103	.	4197;3672	A7Y9J9;E9PBJ0	.;.	S	3669;3672;3641;3574	ENSP00000436812:G3669S;ENSP00000415793:G3672S	ENSP00000343037:G3641S	G	+	1	0	MUC5B	1225691	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.475000	0.00458	-1.553000	0.01702	-1.516000	0.00938	GGC		0.592	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		32	246	0	0	0	1	0	32	246				
WDR19	57728	broad.mit.edu	37	4	39245929	39245929	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr4:39245929G>A	ENST00000399820.3	+	22	2637	c.2483G>A	c.(2482-2484)cGt>cAt	p.R828H	WDR19_ENST00000288634.7_Missense_Mutation_p.R668H	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	828					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						GGAGACATACGTCGAGGGGTT	0.468																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(2482-2484)cGt>cAt		WD repeat domain 19							153.0	146.0	148.0					4																	39245929		1992	4161	6153	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39245929G>A	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.2483G>A	4.37:g.39245929G>A	ENSP00000382717:p.Arg828His					WDR19_ENST00000288634.7_Missense_Mutation_p.R668H	p.R828H	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN			22	2637	+			828					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.2483G>A	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	G	34	5.355799	0.95854	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	T;T	0.67523	-0.25;-0.27	4.99	4.99	0.66335	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.84705	0.5531	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.86675	0.1913	10	0.52906	T	0.07	-13.5182	18.4539	0.90713	0.0:0.0:1.0:0.0	.	828	Q8NEZ3	WDR19_HUMAN	H	828;668	ENSP00000382717:R828H;ENSP00000288634:R668H	ENSP00000288634:R668H	R	+	2	0	WDR19	38922324	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.340000	0.97038	2.578000	0.87016	0.591000	0.81541	CGT		0.468	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			12	104	0	0	0	1	0	12	104				
KBTBD3	143879	broad.mit.edu	37	11	105923623	105923623	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr11:105923623T>G	ENST00000526793.1	-	3	1952	c.1793A>C	c.(1792-1794)cAg>cCg	p.Q598P	KBTBD3_ENST00000534815.1_Missense_Mutation_p.Q519P|KBTBD3_ENST00000531837.1_Missense_Mutation_p.Q598P	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	594										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TTTATTAAACTGAATCACCTG	0.378																																						ENST00000526793.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.(1792-1794)cAg>cCg		kelch repeat and BTB (POZ) domain containing 3							94.0	98.0	97.0					11																	105923623		2201	4297	6498	SO:0001583	missense	143879							g.chr11:105923623T>G	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1793A>C	11.37:g.105923623T>G	ENSP00000436262:p.Gln598Pro					KBTBD3_ENST00000531837.1_Missense_Mutation_p.Q598P|KBTBD3_ENST00000534815.1_Missense_Mutation_p.Q519P	p.Q598P	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	3	1952	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	594					Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.1793A>C	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	T	9.844	1.191763	0.21954	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.66995	-0.1;-0.24;-0.24	5.86	3.57	0.40892	.	0.268520	0.44483	D	0.000456	T	0.50309	0.1608	N	0.24115	0.695	0.34412	D	0.696476	B;B	0.22604	0.044;0.072	B;B	0.21708	0.016;0.036	T	0.57625	-0.7779	10	0.46703	T	0.11	.	9.8151	0.40846	0.0:0.1381:0.0:0.8619	.	598;594	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	P	519;598;598	ENSP00000431910:Q519P;ENSP00000436262:Q598P;ENSP00000432163:Q598P	ENSP00000436262:Q598P	Q	-	2	0	KBTBD3	105428833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.439000	0.44846	1.059000	0.40554	0.477000	0.44152	CAG		0.378	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		8	71	0	0	0	1	0	8	71				
CSF1	1435	broad.mit.edu	37	1	110466000	110466000	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:110466000C>T	ENST00000329608.6	+	6	1148	c.757C>T	c.(757-759)Cca>Tca	p.P253S	CSF1_ENST00000369802.3_Missense_Mutation_p.P253S|CSF1_ENST00000344188.5_Missense_Mutation_p.P253S|CSF1_ENST00000369801.1_Missense_Mutation_p.P253S|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	253					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAAGCAGCGGCCACCCAGGAG	0.652											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000329608.6																			0				breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(757-759)Cca>Tca		colony stimulating factor 1 (macrophage)							42.0	47.0	45.0					1																	110466000		2203	4300	6503	SO:0001583	missense	1435				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	g.chr1:110466000C>T	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.757C>T	1.37:g.110466000C>T	ENSP00000327513:p.Pro253Ser		OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1427	CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Missense_Mutation_p.P253S|CSF1_ENST00000369802.3_Missense_Mutation_p.P253S|CSF1_ENST00000344188.5_Missense_Mutation_p.P253S	p.P253S	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)	6	1148	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	253					A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	ENST00000329608.6	37	c.757C>T	CCDS816.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164293	0.38217	.	.	ENSG00000184371	ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000369801	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	4.42	3.43	0.39272	.	0.298004	0.23547	N	0.047009	T	0.46386	0.1390	M	0.63428	1.95	0.32806	D	0.500822	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.96	T	0.34551	-0.9824	10	0.32370	T	0.25	.	12.0079	0.53270	0.0:0.8257:0.1743:0.0	.	253;253	P09603;P09603-2	CSF1_HUMAN;.	S	253;253;212;253;253	ENSP00000342718:P253S;ENSP00000327513:P253S;ENSP00000433837:P212S;ENSP00000358817:P253S;ENSP00000358816:P253S	ENSP00000327513:P253S	P	+	1	0	CSF1	110267523	0.587000	0.26791	1.000000	0.80357	0.353000	0.29299	0.357000	0.20199	2.152000	0.67230	0.313000	0.20887	CCA		0.652	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		27	82	0	0	0	1	0	27	82				
TMEM200C	645369	broad.mit.edu	37	18	5891942	5891942	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr18:5891942C>A	ENST00000581347.2	-	3	766	c.121G>T	c.(121-123)Gtg>Ttg	p.V41L	RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.V41L|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	41						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CCTTTCACCACCACCACGTCG	0.602																																						ENST00000581347.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						c.(121-123)Gtg>Ttg		transmembrane protein 200C							98.0	107.0	104.0					18																	5891942		2182	4268	6450	SO:0001583	missense	645369					integral to membrane		g.chr18:5891942C>A		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.121G>T	18.37:g.5891942C>A	ENSP00000463375:p.Val41Leu					TMEM200C_ENST00000383490.2_Missense_Mutation_p.V41L|RP11-945C19.4_ENST00000577694.1_RNA	p.V41L			A6NKL6	T200C_HUMAN			3	766	-			41						Missense_Mutation	SNP	ENST00000581347.2	37	c.121G>T	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025454	0.93518	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.79064	0.4383	M	0.73217	2.22	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.81726	-0.0801	9	0.72032	D	0.01	-6.4722	18.2993	0.90158	0.0:1.0:0.0:0.0	.	41	A6NKL6	T200C_HUMAN	L	41	.	ENSP00000372982:V41L	V	-	1	0	TMEM200C	5881942	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.690000	0.84178	2.376000	0.81061	0.557000	0.71058	GTG		0.602	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		8	42	1	0	3.09899e-07	1	3.47201e-07	8	42				
ZMAT4	79698	broad.mit.edu	37	8	40554763	40554763	+	Splice_Site	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr8:40554763C>T	ENST00000297737.6	-	4	496		c.e4+1		ZMAT4_ENST00000315769.7_Splice_Site	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4							nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CCTGCACGTACCTGTGGTCTT	0.517																																						ENST00000297737.6																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.e4+1		zinc finger, matrin-type 4							197.0	182.0	187.0					8																	40554763		2203	4300	6503	SO:0001630	splice_region_variant	79698					nucleus	DNA binding|zinc ion binding	g.chr8:40554763C>T	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.349+1G>A	8.37:g.40554763C>T						ZMAT4_ENST00000315769.7_Splice_Site		NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		4	496	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)						Q8WUT8	Splice_Site	SNP	ENST00000297737.6	37		CCDS34885.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583737	0.46006	.	.	ENSG00000165061	ENST00000315769;ENST00000297737;ENST00000519406	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZMAT4	40673920	1.000000	0.71417	1.000000	0.80357	0.281000	0.26958	7.320000	0.79064	2.941000	0.99782	0.655000	0.94253	.		0.517	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645	Intron	18	192	0	0	0	1	0	18	192				
BCAS3	54828	broad.mit.edu	37	17	58967129	58967129	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr17:58967129C>G	ENST00000390652.5	+	10	766	c.735C>G	c.(733-735)aaC>aaG	p.N245K	BCAS3_ENST00000589222.1_Missense_Mutation_p.N245K|BCAS3_ENST00000585744.1_Missense_Mutation_p.N16K|BCAS3_ENST00000408905.3_Missense_Mutation_p.N245K|BCAS3_ENST00000588874.1_Missense_Mutation_p.N16K|BCAS3_ENST00000407086.3_Missense_Mutation_p.N245K|BCAS3_ENST00000588462.1_Missense_Mutation_p.N245K	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ATGCAGAAAACAAGGTAAGAC	0.408																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(733-735)aaC>aaG		breast carcinoma amplified sequence 3							108.0	105.0	106.0					17																	58967129		1850	4095	5945	SO:0001583	missense	54828					nucleus		g.chr17:58967129C>G	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.735C>G	17.37:g.58967129C>G	ENSP00000375067:p.Asn245Lys					BCAS3_ENST00000408905.3_Missense_Mutation_p.N245K|BCAS3_ENST00000588462.1_Missense_Mutation_p.N245K|BCAS3_ENST00000588874.1_Missense_Mutation_p.N16K|BCAS3_ENST00000390652.5_Missense_Mutation_p.N245K|BCAS3_ENST00000585744.1_Missense_Mutation_p.N16K|BCAS3_ENST00000407086.3_Missense_Mutation_p.N245K	p.N245K			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		10	803	+			245						Missense_Mutation	SNP	ENST00000390652.5	37	c.735C>G	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	C	3.240	-0.155624	0.06544	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000405217	T;T;T	0.32515	1.45;1.47;1.47	5.99	2.9	0.33743	.	0.000000	0.85682	D	0.000000	T	0.17577	0.0422	N	0.25144	0.715	0.41070	D	0.98544	B;B;B;B	0.28178	0.008;0.202;0.022;0.038	B;B;B;B	0.27887	0.006;0.084;0.013;0.019	T	0.06373	-1.0830	10	0.15499	T	0.54	.	9.2387	0.37481	0.0:0.636:0.0:0.364	.	50;245;245;245	Q70WD9;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;BCAS3_HUMAN;.	K	245;245;245;245;50	ENSP00000375067:N245K;ENSP00000385323:N245K;ENSP00000386173:N245K	ENSP00000375067:N245K	N	+	3	2	BCAS3	56321911	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.936000	0.28938	0.854000	0.35336	0.655000	0.94253	AAC		0.408	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		11	54	0	0	0	1	0	11	54				
TTN	7273	broad.mit.edu	37	2	179605415	179605415	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr2:179605415T>C	ENST00000591111.1	-	46	11818	c.11594A>G	c.(11593-11595)gAg>gGg	p.E3865G	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4011G|TTN_ENST00000589042.1_Missense_Mutation_p.E4182G|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3944G|TTN_ENST00000460472.2_Missense_Mutation_p.E3819G			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGATTTTCTCGGTATCTGA	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(12544-12546)gAg>gGg		titin							80.0	78.0	78.0					2																	179605415		1851	4098	5949	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605415T>C	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.11594A>G	2.37:g.179605415T>C	ENSP00000465570:p.Glu3865Gly					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E3865G|TTN_ENST00000342175.6_Missense_Mutation_p.E4011G|TTN_ENST00000460472.2_Missense_Mutation_p.E3819G|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3944G|TTN-AS1_ENST00000582847.1_RNA	p.E4182G	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)		48	12769	-			3865					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.12545A>G		.	.	.	.	.	.	.	.	.	.	T	8.537	0.872434	0.17322	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.80738	-1.3;-1.4;-1.41	5.51	5.51	0.81932	.	.	.	.	.	T	0.73016	0.3533	L	0.27053	0.805	0.33504	D	0.590347	B;B;B	0.30851	0.297;0.297;0.297	B;B;B	0.31390	0.129;0.129;0.129	T	0.80384	-0.1405	9	0.87932	D	0	.	15.6399	0.76989	0.0:0.0:0.0:1.0	.	3819;3944;4011	D3DPF9;E7EQE6;E7ET18	.;.;.	G	3819;4011;3944;3819	ENSP00000434586:E3819G;ENSP00000340554:E4011G;ENSP00000352154:E3944G	ENSP00000340554:E4011G	E	-	2	0	TTN	179313660	1.000000	0.71417	0.312000	0.25196	0.023000	0.10783	5.077000	0.64419	2.103000	0.63969	0.533000	0.62120	GAG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	69	0	0	0	1	0	21	69				
POLRMT	5442	broad.mit.edu	37	19	622886	622886	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr19:622886G>A	ENST00000588649.2	-	7	1474	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	464					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGAGAACCGGCCCTCGTAC	0.682																																						ENST00000588649.2																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(1390-1392)Cgg>Tgg		polymerase (RNA) mitochondrial (DNA directed)							28.0	29.0	29.0					19																	622886		2203	4299	6502	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:622886G>A		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1390C>T	19.37:g.622886G>A	ENSP00000465759:p.Arg464Trp						p.R464W	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1474	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	464					O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.1390C>T	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	14.43	2.531829	0.45073	.	.	ENSG00000099821	ENST00000215591	T	0.53857	0.6	4.01	-2.87	0.05700	.	0.816063	0.11556	N	0.552272	T	0.38321	0.1036	N	0.25647	0.755	0.09310	N	1	D	0.65815	0.995	P	0.49502	0.613	T	0.28073	-1.0055	10	0.39692	T	0.17	-10.2532	3.9794	0.09489	0.398:0.0:0.3478:0.2542	.	464	O00411	RPOM_HUMAN	W	464	ENSP00000215591:R464W	ENSP00000215591:R464W	R	-	1	2	POLRMT	573886	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.050000	0.14120	-0.512000	0.06505	-0.261000	0.10672	CGG		0.682	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		14	14	0	0	0	1	0	14	14				
SMARCA4	6597	broad.mit.edu	37	19	11141427	11141427	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr19:11141427G>A	ENST00000429416.3	+	26	3685	c.3404G>A	c.(3403-3405)cGg>cAg	p.R1135Q	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1135Q	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1135	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGGAGGACCGGGGCATGCTG	0.632			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3403-3405)cGg>cAg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							31.0	34.0	33.0					19																	11141427		2203	4299	6502	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11141427G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3404G>A	19.37:g.11141427G>A	ENSP00000395654:p.Arg1135Gln					SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1135Q	p.R1135Q	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			25	3688	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1135			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3404G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	35	5.433791	0.96150	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	4.59	4.59	0.56863	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97253	0.9102	H	0.99609	4.655	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D	0.99084	1.0838	10	0.87932	D	0	-44.6269	16.3247	0.82975	0.0:0.0:1.0:0.0	.	1135;1135;1135;1135;1135;355;1135;1135	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	Q	1135;1135;1199;1135;1135;1135;1135;1135	ENSP00000395654:R1135Q;ENSP00000350720:R1135Q;ENSP00000343896:R1135Q;ENSP00000445036:R1135Q;ENSP00000392837:R1135Q;ENSP00000397783:R1135Q;ENSP00000414727:R1135Q	ENSP00000343896:R1135Q	R	+	2	0	SMARCA4	11002427	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.411000	0.97342	2.389000	0.81357	0.563000	0.77884	CGG		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		8	13	0	0	0	1	0	8	13				
PAPPA2	60676	broad.mit.edu	37	1	176760546	176760546	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:176760546C>T	ENST00000367662.3	+	19	6112	c.4948C>T	c.(4948-4950)Caa>Taa	p.Q1650*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1650					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGAGAATCTGCAAGGAGAATG	0.423																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(4948-4950)Caa>Taa		pappalysin 2							92.0	91.0	92.0					1																	176760546		1914	4114	6028	SO:0001587	stop_gained	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176760546C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4948C>T	1.37:g.176760546C>T	ENSP00000356634:p.Gln1650*						p.Q1650*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			19	6112	+			1650					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Nonsense_Mutation	SNP	ENST00000367662.3	37	c.4948C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	53	20.914576	0.99935	.	.	ENSG00000116183	ENST00000367662	.	.	.	5.4	4.47	0.54385	.	0.192938	0.45606	D	0.000345	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-0.4329	9.2288	0.37423	0.164:0.6776:0.1584:0.0	.	.	.	.	X	1650	.	ENSP00000356634:Q1650X	Q	+	1	0	PAPPA2	175027169	0.505000	0.26131	1.000000	0.80357	0.997000	0.91878	1.398000	0.34554	1.232000	0.43678	0.655000	0.94253	CAA		0.423	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			5	62	0	0	0	1	0	5	62				
CUEDC1	404093	broad.mit.edu	37	17	55946537	55946537	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr17:55946537G>A	ENST00000577830.1	-	7	1299	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S	CUEDC1_ENST00000407144.2_Missense_Mutation_p.P296S|CUEDC1_ENST00000577840.1_Missense_Mutation_p.P159S|CUEDC1_ENST00000360238.2_Missense_Mutation_p.P296S|CUEDC1_ENST00000578357.1_5'UTR	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	296										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						GACACAGCGGGGTTGGCGTCG	0.607																																						ENST00000577830.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(886-888)Ccc>Tcc		CUE domain containing 1							82.0	61.0	69.0					17																	55946537		2203	4300	6503	SO:0001583	missense	404093							g.chr17:55946537G>A	AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.886C>T	17.37:g.55946537G>A	ENSP00000462717:p.Pro296Ser					CUEDC1_ENST00000577840.1_Missense_Mutation_p.P159S|CUEDC1_ENST00000578357.1_5'UTR|CUEDC1_ENST00000360238.2_Missense_Mutation_p.P296S|CUEDC1_ENST00000407144.2_Missense_Mutation_p.P296S	p.P296S	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN			7	1299	-			296					D3DTZ2|Q9NWD0	Missense_Mutation	SNP	ENST00000577830.1	37	c.886C>T	CCDS11599.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275332	0.40194	.	.	ENSG00000180891	ENST00000407144;ENST00000360238	T;T	0.20200	2.09;2.09	5.29	3.17	0.36434	.	0.263796	0.38720	N	0.001588	T	0.07098	0.0180	N	0.10733	0.035	0.27729	N	0.944868	B	0.09022	0.002	B	0.08055	0.003	T	0.34551	-0.9824	10	0.06365	T	0.9	-13.9679	3.4895	0.07632	0.0842:0.1285:0.4535:0.3338	.	296	Q9NWM3	CUED1_HUMAN	S	296	ENSP00000384712:P296S;ENSP00000353373:P296S	ENSP00000353373:P296S	P	-	1	0	CUEDC1	53301536	0.999000	0.42202	0.988000	0.46212	0.897000	0.52465	1.345000	0.33953	1.241000	0.43820	0.591000	0.81541	CCC		0.607	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1	NM_017949		6	28	0	0	0	1	0	6	28				
PPOX	5498	broad.mit.edu	37	1	161138364	161138364	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:161138364C>A	ENST00000367999.4	+	6	880	c.614C>A	c.(613-615)gCa>gAa	p.A205E	PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.A205E|PPOX_ENST00000544598.1_Intron|B4GALT3_ENST00000470882.1_5'Flank	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	205			A -> V (in VP; no effect on enzyme activity). {ECO:0000269|PubMed:12859407}.		heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTGCTGGGGGCAGGTGAGGGG	0.502																																						ENST00000367999.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	GRCh37	CM031719	PPOX	M		c.(613-615)gCa>gAa		protoporphyrinogen oxidase							50.0	49.0	49.0					1																	161138364		2203	4300	6503	SO:0001583	missense	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161138364C>A	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.614C>A	1.37:g.161138364C>A	ENSP00000356978:p.Ala205Glu					PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.A205E	p.A205E	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		6	880	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		205					D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	c.614C>A	CCDS1221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.31|15.31	2.796534|2.796534	0.50208|0.50208	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935|ENST00000537523	D;D|.	0.92299|.	-3.01;-3.01|.	5.23|5.23	5.23|5.23	0.72850|0.72850	Amine oxidase (1);|.	0.335211|.	0.32488|.	N|.	0.006024|.	T|T	0.37293|0.37293	0.0998|0.0998	N|N	0.21508|0.21508	0.67|0.67	0.80722|0.80722	D|D	1|1	B;P;B|.	0.39576|.	0.173;0.679;0.053|.	B;B;B|.	0.33121|.	0.158;0.158;0.057|.	T|T	0.19679|0.19679	-1.0298|-1.0298	10|5	0.21014|.	T|.	0.42|.	-22.6471|-22.6471	12.3886|12.3886	0.55347|0.55347	0.0:0.723:0.277:0.0|0.0:0.723:0.277:0.0	.|.	172;43;205|.	B4DY76;B3KT30;P50336|.	.;.;PPOX_HUMAN|.	E|K	205;205;172|18	ENSP00000343943:A205E;ENSP00000356978:A205E|.	ENSP00000343943:A205E|.	A|Q	+|+	2|1	0|0	PPOX|PPOX	159404988|159404988	0.936000|0.936000	0.31750|0.31750	0.998000|0.998000	0.56505|0.56505	0.724000|0.724000	0.41520|0.41520	1.724000|1.724000	0.38064|0.38064	2.701000|2.701000	0.92244|0.92244	0.650000|0.650000	0.86243|0.86243	GCA|CAG		0.502	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		11	63	1	0	3.07112e-06	1	3.37823e-06	11	63				
AJUBA	84962	broad.mit.edu	37	14	23444276	23444276	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr14:23444276C>T	ENST00000262713.2	-	5	1652	c.1277G>A	c.(1276-1278)tGt>tAt	p.C426Y	AJUBA_ENST00000397388.3_Missense_Mutation_p.C9Y|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.C426Y	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	426	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										GCATCGGAAACAGCCTGGATG	0.517																																						ENST00000262713.2																			0											c.(1276-1278)tGt>tAt		ajuba LIM protein							124.0	116.0	119.0					14																	23444276		2203	4300	6503	SO:0001583	missense	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23444276C>T	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1277G>A	14.37:g.23444276C>T	ENSP00000262713:p.Cys426Tyr					RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.C426Y|AJUBA_ENST00000397388.3_Missense_Mutation_p.C9Y	p.C426Y	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			5	1652	-			426			LIM zinc-binding 2.		A8MX18|D3DS37	Missense_Mutation	SNP	ENST00000262713.2	37	c.1277G>A	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873462	0.91664	.	.	ENSG00000129474	ENST00000262713;ENST00000397388;ENST00000361265;ENST00000553592;ENST00000556731;ENST00000553911	D;D;D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7;-3.7;-3.7	6.17	6.17	0.99709	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.98760	0.9583	H	0.98133	4.155	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99078	1.0836	10	0.62326	D	0.03	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	426	Q96IF1	JUB_HUMAN	Y	426;9;426;9;9;9	ENSP00000262713:C426Y;ENSP00000380543:C9Y;ENSP00000354491:C426Y;ENSP00000452369:C9Y;ENSP00000451649:C9Y;ENSP00000452325:C9Y	ENSP00000262713:C426Y	C	-	2	0	JUB	22514116	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.941000	0.99782	0.655000	0.94253	TGT		0.517	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			13	71	0	0	0	1	0	13	71				
OR5W2	390148	broad.mit.edu	37	11	55681455	55681455	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr11:55681455C>T	ENST00000344514.1	-	1	603	c.604G>A	c.(604-606)Gtc>Atc	p.V202I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAACCAAAGACGGTGAATAAC	0.388																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(604-606)Gtc>Atc		olfactory receptor, family 5, subfamily W, member 2							60.0	62.0	62.0					11																	55681455		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681455C>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.604G>A	11.37:g.55681455C>T	ENSP00000342448:p.Val202Ile						p.V202I	NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN			1	603	-			202						Missense_Mutation	SNP	ENST00000344514.1	37	c.604G>A	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	2.197	-0.383990	0.04966	.	.	ENSG00000187612	ENST00000344514	T	0.00169	8.63	5.0	-7.36	0.01417	GPCR, rhodopsin-like superfamily (1);	0.960245	0.08483	N	0.939211	T	0.00073	0.0002	N	0.20357	0.565	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.18840	-1.0324	10	0.12103	T	0.63	.	0.6426	0.00813	0.3225:0.2709:0.1067:0.2999	.	202	Q8NH69	OR5W2_HUMAN	I	202	ENSP00000342448:V202I	ENSP00000342448:V202I	V	-	1	0	OR5W2	55438031	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-4.677000	0.00199	-1.276000	0.02414	0.542000	0.68232	GTC		0.388	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		8	77	0	0	0	1	0	8	77				
PPP6R3	55291	broad.mit.edu	37	11	68312482	68312482	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr11:68312482A>T	ENST00000393800.2	+	4	658	c.404A>T	c.(403-405)aAa>aTa	p.K135I	PPP6R3_ENST00000529710.1_Missense_Mutation_p.K135I|PPP6R3_ENST00000265637.4_Missense_Mutation_p.K135I|PPP6R3_ENST00000524845.1_Missense_Mutation_p.K135I|PPP6R3_ENST00000527403.2_Missense_Mutation_p.K135I|PPP6R3_ENST00000534534.1_Missense_Mutation_p.K44I|PPP6R3_ENST00000265636.5_Missense_Mutation_p.K135I|PPP6R3_ENST00000393799.2_Missense_Mutation_p.K135I|PPP6R3_ENST00000393801.3_Missense_Mutation_p.K135I|PPP6R3_ENST00000524904.1_Missense_Mutation_p.K135I	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	135					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATCAGCAGAAAACCAGAACAG	0.388																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(403-405)aAa>aTa		protein phosphatase 6, regulatory subunit 3							77.0	78.0	78.0					11																	68312482		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68312482A>T	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.404A>T	11.37:g.68312482A>T	ENSP00000377389:p.Lys135Ile					PPP6R3_ENST00000393800.2_Missense_Mutation_p.K135I|PPP6R3_ENST00000265637.4_Missense_Mutation_p.K135I|PPP6R3_ENST00000527403.2_Missense_Mutation_p.K135I|PPP6R3_ENST00000265636.5_Missense_Mutation_p.K135I|PPP6R3_ENST00000534534.1_Missense_Mutation_p.K44I|PPP6R3_ENST00000524904.1_Missense_Mutation_p.K135I|PPP6R3_ENST00000524845.1_Missense_Mutation_p.K135I|PPP6R3_ENST00000393801.3_Missense_Mutation_p.K135I|PPP6R3_ENST00000529710.1_Missense_Mutation_p.K135I	p.K135I			Q5H9R7	PP6R3_HUMAN			4	671	+			135					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.404A>T	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.837668	0.91117	.	.	ENSG00000110075	ENST00000393799;ENST00000413788;ENST00000393800;ENST00000529907;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;3.63;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.80099	0.4561	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.996;0.993;0.998;0.997;0.998;0.999	T	0.83172	-0.0093	10	0.87932	D	0	.	15.4445	0.75220	1.0:0.0:0.0:0.0	.	44;135;135;135;135;135;135	E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;PP6R3_HUMAN;.;.	I	135;44;135;44;44;135;135;135;135;135;135;135;135	ENSP00000377388:K135I;ENSP00000377389:K135I;ENSP00000431738:K44I;ENSP00000434429:K44I;ENSP00000431415:K135I;ENSP00000265637:K135I;ENSP00000433058:K135I;ENSP00000377390:K135I;ENSP00000265636:K135I;ENSP00000437329:K135I;ENSP00000433565:K135I	ENSP00000265636:K135I	K	+	2	0	PPP6R3	68069058	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.228000	0.95250	2.242000	0.73789	0.402000	0.26972	AAA		0.388	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		5	61	0	0	0	1	0	5	61				
GALNT11	63917	broad.mit.edu	37	7	151800369	151800369	+	Intron	SNP	G	G	T	rs528603063		TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr7:151800369G>T	ENST00000434507.1	+	6	1023				GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000415421.1_Nonsense_Mutation_p.E198*|GALNT11_ENST00000430044.2_Intron|GALNT11_ENST00000320311.2_Intron			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11						cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CTTTGGTAAGGAATGCTGCAC	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		17550	0.0		0.0	False		,,,				2504	0.001					ENST00000415421.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27						c.(592-594)Gaa>Taa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)							133.0	95.0	108.0					7																	151800369		2203	4300	6503	SO:0001627	intron_variant	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151800369G>T	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.586+6G>T	7.37:g.151800369G>T						GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000434507.1_Intron|GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000320311.2_Intron|GALNT11_ENST00000430044.2_Intron	p.E198*			Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	5	947	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	0			Catalytic subdomain A.		B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Nonsense_Mutation	SNP	ENST00000434507.1	37	c.592G>T	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.624099	0.46840	.	.	ENSG00000178234	ENST00000415421	.	.	.	4.61	-3.45	0.04781	.	.	.	.	.	.	.	.	.	.	.	0.42790	D	0.993899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1226	0.20161	0.1827:0.0:0.2343:0.583	.	.	.	.	X	198	.	.	E	+	1	0	GALNT11	151431302	0.406000	0.25344	0.001000	0.08648	0.022000	0.10575	-0.062000	0.11674	-0.507000	0.06549	-0.467000	0.05162	GAA		0.498	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		5	30	1	0	0.217242	1	0.217242	5	30				
FAM189A2	9413	broad.mit.edu	37	9	72006659	72006659	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr9:72006659G>A	ENST00000257515.8	+	11	1712	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q	FAM189A2_ENST00000303068.7_Missense_Mutation_p.R266Q|FAM189A2_ENST00000377216.3_Missense_Mutation_p.R218Q|FAM189A2_ENST00000455972.1_Missense_Mutation_p.R431Q	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	431						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						AGGAGGCCCCGGCGAGTGGAG	0.667																																						ENST00000257515.8																			0				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(1291-1293)cGg>cAg		family with sequence similarity 189, member A2							20.0	23.0	22.0					9																	72006659		2200	4300	6500	SO:0001583	missense	9413					integral to membrane		g.chr9:72006659G>A	L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"""chromosome 9 open reading frame 61"""	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.1292G>A	9.37:g.72006659G>A	ENSP00000257515:p.Arg431Gln					FAM189A2_ENST00000303068.7_Missense_Mutation_p.R266Q|FAM189A2_ENST00000377216.3_Missense_Mutation_p.R218Q|FAM189A2_ENST00000455972.1_Missense_Mutation_p.R431Q	p.R431Q	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN			11	1712	+			431					Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Missense_Mutation	SNP	ENST00000257515.8	37	c.1292G>A	CCDS6629.1	.	.	.	.	.	.	.	.	.	.	G	5.435	0.265305	0.10294	.	.	ENSG00000135063	ENST00000455972;ENST00000257515;ENST00000303068;ENST00000377225;ENST00000377216	T;T;T	0.28069	4.1;4.1;1.63	5.53	-1.44	0.08856	.	1.673690	0.03265	N	0.183801	T	0.12008	0.0292	N	0.02802	-0.49	0.19300	N	0.999979	B	0.09022	0.002	B	0.04013	0.001	T	0.20907	-1.0261	10	0.10636	T	0.68	-1.709	6.0824	0.19948	0.3773:0.4509:0.1718:0.0	.	431	Q15884	F1892_HUMAN	Q	431;431;266;430;218	ENSP00000395675:R431Q;ENSP00000257515:R431Q;ENSP00000304435:R266Q	ENSP00000257515:R431Q	R	+	2	0	FAM189A2	71196479	0.655000	0.27376	0.934000	0.37439	0.080000	0.17528	0.782000	0.26788	0.010000	0.14839	-0.519000	0.04390	CGG		0.667	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2	NM_004816		8	36	0	0	0	1	0	8	36				
SPATA16	83893	broad.mit.edu	37	3	172835185	172835185	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr3:172835185G>T	ENST00000351008.3	-	2	520	c.337C>A	c.(337-339)Cct>Act	p.P113T		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	113					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GGGATGTGAGGCAGAGGCATG	0.413																																						ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(337-339)Cct>Act		spermatogenesis associated 16							421.0	385.0	397.0					3																	172835185		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835185G>T	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.337C>A	3.37:g.172835185G>T	ENSP00000341765:p.Pro113Thr						p.P113T	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		2	520	-	Ovarian(172;0.00319)|Breast(254;0.197)		113					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.337C>A	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564903	0.65651	.	.	ENSG00000144962	ENST00000351008	T	0.16897	2.31	5.8	5.8	0.92144	.	0.109676	0.41396	D	0.000899	T	0.26085	0.0636	L	0.27053	0.805	0.39389	D	0.966397	D	0.76494	0.999	D	0.63033	0.91	T	0.01675	-1.1298	10	0.72032	D	0.01	-9.3449	12.5099	0.56000	0.0785:0.0:0.9215:0.0	.	113	Q9BXB7	SPT16_HUMAN	T	113	ENSP00000341765:P113T	ENSP00000341765:P113T	P	-	1	0	SPATA16	174317879	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.210000	0.58500	2.733000	0.93635	0.650000	0.86243	CCT		0.413	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		10	69	1	0	2.17888e-05	1	2.35397e-05	10	69				
FREM1	158326	broad.mit.edu	37	9	14808085	14808085	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr9:14808085C>G	ENST00000380880.3	-	17	3724	c.2941G>C	c.(2941-2943)Gtt>Ctt	p.V981L	FREM1_ENST00000422223.2_Missense_Mutation_p.V981L|FREM1_ENST00000380881.4_Missense_Mutation_p.V982L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	981					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCATCCGAAACCACCAATGTA	0.448																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2944-2946)Gtt>Ctt		FRAS1 related extracellular matrix 1							125.0	130.0	128.0					9																	14808085		2025	4178	6203	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14808085C>G	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2941G>C	9.37:g.14808085C>G	ENSP00000370262:p.Val981Leu					FREM1_ENST00000422223.2_Missense_Mutation_p.V981L|FREM1_ENST00000380880.3_Missense_Mutation_p.V981L	p.V982L			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	18	3759	-			981					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.2944G>C	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881478	0.72294	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.12879	2.65;2.64;2.64	5.79	5.79	0.91817	.	0.160028	0.56097	D	0.000039	T	0.27278	0.0669	L	0.44542	1.39	0.52099	D	0.999949	D	0.57571	0.98	P	0.58721	0.844	T	0.00265	-1.1865	10	0.25106	T	0.35	-18.6868	20.0367	0.97561	0.0:1.0:0.0:0.0	.	981	Q5H8C1	FREM1_HUMAN	L	982;981;981	ENSP00000370263:V982L;ENSP00000412940:V981L;ENSP00000370262:V981L	ENSP00000370257:V984L	V	-	1	0	FREM1	14798085	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	1.288000	0.33296	2.741000	0.93983	0.557000	0.71058	GTT		0.448	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		21	90	0	0	0	1	0	21	90				
NLGN3	54413	broad.mit.edu	37	X	70367763	70367763	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chrX:70367763G>A	ENST00000358741.3	+	2	467	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	NLGN3_ENST00000374051.3_Missense_Mutation_p.R55Q|NLGN3_ENST00000536169.1_Missense_Mutation_p.R55Q	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	55					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					AGGGGTGCCCGAGTACCACTG	0.627																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(163-165)cGa>cAa		neuroligin 3							50.0	42.0	45.0					X																	70367763		2202	4299	6501	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70367763G>A	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.164G>A	X.37:g.70367763G>A	ENSP00000351591:p.Arg55Gln					NLGN3_ENST00000358741.3_Missense_Mutation_p.R55Q|NLGN3_ENST00000536169.1_Missense_Mutation_p.R55Q	p.R55Q	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			2	486	+	Renal(35;0.156)		55					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.164G>A	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169841	0.57584	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	4.78	4.78	0.61160	.	0.056228	0.64402	D	0.000001	T	0.67896	0.2942	L	0.33339	1.005	0.54753	D	0.999987	P;D;P	0.54207	0.903;0.965;0.871	B;P;B	0.53185	0.341;0.72;0.193	T	0.69967	-0.5001	10	0.46703	T	0.11	.	17.1255	0.86713	0.0:0.0:1.0:0.0	.	55;55;55	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	Q	55	ENSP00000445298:R55Q;ENSP00000363163:R55Q;ENSP00000379196:R55Q;ENSP00000351591:R55Q	ENSP00000351591:R55Q	R	+	2	0	NLGN3	70284488	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.430000	0.80321	2.223000	0.72356	0.529000	0.55759	CGA		0.627	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		8	10	0	0	0	1	0	8	10				
TRBV10-2	28584	broad.mit.edu	37	7	142206745	142206745	+	RNA	SNP	T	T	G			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr7:142206745T>G	ENST00000426318.2	-	0	160									T cell receptor beta variable 10-2																		CAAGGTCACCTGCCTTCCTGT	0.498																																						ENST00000426318.2																			0																				105.0	102.0	103.0					7																	142206745		1959	4170	6129			28584							g.chr7:142206745T>G	U17049		7q34	2012-02-07			ENSG00000229769	ENSG00000229769		"""T cell receptors / TRB locus"""	12178	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV102, TCRBV10S2, TCRBV12S3			OTTHUMG00000158535		7.37:g.142206745T>G														0	160	-									RNA	SNP	ENST00000426318.2	37																																																																																						0.498	TRBV10-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351241.1	NG_001333		23	111	0	0	0	1	0	23	111				
IARS	3376	broad.mit.edu	37	9	95004436	95004436	+	Splice_Site	SNP	C	C	G			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr9:95004436C>G	ENST00000375643.3	-	29	3443	c.3177G>C	c.(3175-3177)caG>caC	p.Q1059H	IARS_ENST00000447699.2_Splice_Site_p.Q949H|IARS_ENST00000375629.3_Splice_Site_p.Q112H|IARS_ENST00000474340.1_5'UTR|IARS_ENST00000375627.1_Splice_Site_p.Q112H|IARS_ENST00000443024.2_Splice_Site_p.Q1059H	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1059					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CAGGACTCACCTGTGTTTTTT	0.413																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.e29+1		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						130.0	127.0	128.0					9																	95004436		2203	4300	6503	SO:0001630	splice_region_variant	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95004436C>G	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.3177+1G>C	9.37:g.95004436C>G						IARS_ENST00000447699.2_Splice_Site_p.Q949_splice|IARS_ENST00000474340.1_5'UTR|IARS_ENST00000375629.3_Splice_Site_p.Q112_splice|IARS_ENST00000375627.1_Splice_Site_p.Q112_splice|IARS_ENST00000443024.2_Splice_Site_p.Q1059_splice	p.Q1059_splice	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			29	3443	-			1059					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Splice_Site	SNP	ENST00000375643.3	37	c.3177_splice	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371918	0.61624	.	.	ENSG00000196305	ENST00000375643;ENST00000375629;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000375627	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	6.05	6.05	0.98169	.	0.097811	0.64402	D	0.000001	T	0.64193	0.2576	M	0.68952	2.095	0.80722	D	1	D;B;B	0.69078	0.997;0.032;0.242	D;B;B	0.66716	0.946;0.023;0.068	T	0.59059	-0.7525	9	.	.	.	-16.0137	20.2037	0.98272	0.0:1.0:0.0:0.0	.	569;1059;904	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	H	1059;112;1059;949;1059;112	ENSP00000364794:Q1059H;ENSP00000364780:Q112H;ENSP00000406448:Q1059H;ENSP00000415020:Q949H;ENSP00000364778:Q112H	.	Q	-	3	2	IARS	94044257	1.000000	0.71417	0.999000	0.59377	0.741000	0.42261	3.556000	0.53734	2.866000	0.98385	0.650000	0.86243	CAG		0.413	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161	Missense_Mutation	16	80	0	0	0	1	0	16	80				
DLC1	10395	broad.mit.edu	37	8	12958063	12958063	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr8:12958063G>A	ENST00000276297.4	-	9	2192	c.1783C>T	c.(1783-1785)Cgc>Tgc	p.R595C	DLC1_ENST00000512044.2_Missense_Mutation_p.R192C|DLC1_ENST00000520226.1_Missense_Mutation_p.R84C|DLC1_ENST00000358919.2_Missense_Mutation_p.R158C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	595					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTGAGGCTGCGGACGGAAGAC	0.701																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1783-1785)Cgc>Tgc		deleted in liver cancer 1							37.0	43.0	41.0					8																	12958063		2203	4298	6501	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12958063G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1783C>T	8.37:g.12958063G>A	ENSP00000276297:p.Arg595Cys					DLC1_ENST00000520226.1_Missense_Mutation_p.R84C|DLC1_ENST00000358919.2_Missense_Mutation_p.R158C|DLC1_ENST00000512044.2_Missense_Mutation_p.R192C	p.R595C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2192	-			595					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.1783C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975877	0.34848	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.06142	3.58;3.35;3.35;3.34	5.22	4.35	0.52113	.	0.738274	0.14110	N	0.340796	T	0.09113	0.0225	L	0.47716	1.5	0.80722	D	1	D;P;P	0.63046	0.992;0.756;0.77	P;B;B	0.46339	0.513;0.276;0.235	T	0.15263	-1.0443	10	0.48119	T	0.1	.	9.4389	0.38657	0.0722:0.0:0.7866:0.1412	.	595;192;158	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	C	595;158;192;84	ENSP00000276297:R595C;ENSP00000351797:R158C;ENSP00000422595:R192C;ENSP00000428028:R84C	ENSP00000276297:R595C	R	-	1	0	DLC1	13002434	1.000000	0.71417	0.223000	0.23860	0.513000	0.34164	6.465000	0.73538	1.576000	0.49790	0.655000	0.94253	CGC		0.701	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		17	116	0	0	0	1	0	17	116				
HDAC4	9759	broad.mit.edu	37	2	240003803	240003803	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr2:240003803C>A	ENST00000345617.3	-	21	3423	c.2632G>T	c.(2632-2634)Gat>Tat	p.D878Y	HDAC4_ENST00000543185.1_Missense_Mutation_p.D462Y	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	878	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCTACCTCATCAGGAGCCCCG	0.657																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2632-2634)Gat>Tat		histone deacetylase 4							85.0	84.0	84.0					2																	240003803		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240003803C>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2632G>T	2.37:g.240003803C>A	ENSP00000264606:p.Asp878Tyr					HDAC4_ENST00000543185.1_Missense_Mutation_p.D462Y	p.D878Y	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	21	3423	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	878			Histone deacetylase.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.2632G>T	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	c	17.56	3.419593	0.62622	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185	T;T	0.71698	-0.59;-0.59	3.94	3.94	0.45596	Histone deacetylase domain (2);	0.000000	0.85682	U	0.000000	D	0.82765	0.5108	M	0.71920	2.185	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.80764	0.984;0.994	D	0.85752	0.1344	10	0.72032	D	0.01	.	16.3755	0.83383	0.0:1.0:0.0:0.0	.	846;878	Q53SM2;P56524	.;HDAC4_HUMAN	Y	878;766;462	ENSP00000264606:D878Y;ENSP00000440481:D462Y	ENSP00000264606:D878Y	D	-	1	0	HDAC4	239668740	1.000000	0.71417	0.819000	0.32651	0.332000	0.28634	7.382000	0.79729	1.945000	0.56424	0.454000	0.30748	GAT		0.657	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		24	134	1	0	4.43304e-23	1	5.20774e-23	24	134				
RNF219	79596	broad.mit.edu	37	13	79189852	79189852	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr13:79189852G>C	ENST00000282003.6	-	6	2102	c.2044C>G	c.(2044-2046)Ctt>Gtt	p.L682V	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	682	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TGGTTATGAAGACTGTGCATC	0.388																																						ENST00000282003.6																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32						c.(2044-2046)Ctt>Gtt		ring finger protein 219							125.0	125.0	125.0					13																	79189852		2203	4300	6503	SO:0001583	missense	79596						zinc ion binding	g.chr13:79189852G>C	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.2044C>G	13.37:g.79189852G>C	ENSP00000282003:p.Leu682Val					RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	p.L682V	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	6	2102	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	682			Ser-rich.		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	37	c.2044C>G	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588619	0.28357	.	.	ENSG00000152193	ENST00000282003	T	0.14516	2.5	5.66	4.77	0.60923	.	0.236423	0.30011	N	0.010629	T	0.12518	0.0304	L	0.29908	0.895	0.33800	D	0.626542	B	0.17465	0.022	B	0.18263	0.021	T	0.06463	-1.0825	10	0.52906	T	0.07	-14.8854	15.6485	0.77073	0.0:0.1359:0.8641:0.0	.	682	Q5W0B1	RN219_HUMAN	V	682	ENSP00000282003:L682V	ENSP00000282003:L682V	L	-	1	0	RNF219	78087853	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	3.660000	0.54496	2.832000	0.97577	0.655000	0.94253	CTT		0.388	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		28	101	0	0	0	1	0	28	101				
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	T	rs104894229		TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr11:534289C>T	ENST00000451590.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.G12S	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in CSTLO). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854}.|G -> C (in CSTLO). {ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:18039947}.|G -> D (in CSTLO; severe mutation). {ECO:0000269|PubMed:18039947}.|G -> E (in CSTLO). {ECO:0000269|PubMed:16443854}.|G -> S (in CSTLO, OSCC and CMEMS). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:17054105, ECO:0000269|PubMed:17412879}.|G -> V (in CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:17412879}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCACACCGCCGGCGCCCACC	0.647		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		95	Substitution - Missense(95)	p.G12S(58)|p.G12C(25)|p.G12R(12)	upper_aerodigestive_tract(33)|urinary_tract(15)|skin(11)|thyroid(10)|cervix(7)|soft_tissue(5)|salivary_gland(5)|pituitary(3)|large_intestine(2)|lung(1)|penis(1)|prostate(1)|bone(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM053283|CM061797	HRAS	M	rs104894229	c.(34-36)Ggc>Agc		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						78.0	74.0	76.0					11																	534289		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534289C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.34G>A	11.37:g.534289C>T	ENSP00000407586:p.Gly12Ser	HNSCC(11;0.0054)				HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S	p.G12S	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	221	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	12		G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.34G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492705	0.64074	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	L	0.48935	1.535	0.80722	D	1	P;P	0.44281	0.797;0.831	B;P	0.44359	0.319;0.447	T	0.79598	-0.1737	10	0.72032	D	0.01	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	12;12	P01112-2;P01112	.;RASH_HUMAN	S	12	ENSP00000380722:G12S;ENSP00000380723:G12S;ENSP00000407586:G12S;ENSP00000388246:G12S;ENSP00000309845:G12S	ENSP00000309845:G12S	G	-	1	0	HRAS	524289	1.000000	0.71417	0.332000	0.25469	0.311000	0.27955	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGC		0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		11	63	0	0	0	1	0	11	63				
LEPR	3953	broad.mit.edu	37	1	66067341	66067341	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:66067341C>T	ENST00000349533.6	+	9	1446	c.1261C>T	c.(1261-1263)Cgc>Tgc	p.R421C	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.R421C|LEPR_ENST00000344610.8_Missense_Mutation_p.R421C|LEPR_ENST00000371060.3_Missense_Mutation_p.R421C|LEPR_ENST00000371058.1_Missense_Mutation_p.R421C	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATGCCATCATCGCTATGCTGA	0.358																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(1261-1263)Cgc>Tgc		leptin receptor							75.0	72.0	73.0					1																	66067341		2201	4298	6499	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66067341C>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1261C>T	1.37:g.66067341C>T	ENSP00000330393:p.Arg421Cys					LEPR_ENST00000371059.3_Missense_Mutation_p.R421C|LEPR_ENST00000371060.3_Missense_Mutation_p.R421C|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.R421C|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Missense_Mutation_p.R421C	p.R421C	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	9	1446	+			421			Ig-like.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.1261C>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674081	0.67928	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	4.73	4.73	0.59995	Immunoglobulin C2-set-like, ligand-binding (1);	0.230007	0.45126	D	0.000393	D	0.83589	0.5287	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.72075	0.976;0.935;0.96	D	0.84741	0.0751	10	0.56958	D	0.05	-11.1727	13.8395	0.63430	0.1628:0.8372:0.0:0.0	.	421;421;421	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	C	421	ENSP00000340884:R421C;ENSP00000330393:R421C;ENSP00000360099:R421C;ENSP00000360098:R421C;ENSP00000360097:R421C	ENSP00000340884:R421C	R	+	1	0	LEPR	65839929	0.996000	0.38824	1.000000	0.80357	0.982000	0.71751	2.923000	0.48868	2.449000	0.82847	0.467000	0.42956	CGC		0.358	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		5	26	0	0	0	1	0	5	26				
RC3H1	149041	broad.mit.edu	37	1	173952657	173952657	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:173952657C>T	ENST00000367696.2	-	4	842	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	RC3H1_ENST00000367694.2_Missense_Mutation_p.R164Q|RC3H1_ENST00000258349.4_Missense_Mutation_p.R164Q			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	164					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TGTAACTGTTCGTTCACCTAA	0.512																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(490-492)cGa>cAa		ring finger and CCCH-type domains 1							158.0	129.0	139.0					1																	173952657		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173952657C>T	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.491G>A	1.37:g.173952657C>T	ENSP00000356669:p.Arg164Gln					RC3H1_ENST00000367694.2_Missense_Mutation_p.R164Q|RC3H1_ENST00000258349.4_Missense_Mutation_p.R164Q	p.R164Q			Q5TC82	RC3H1_HUMAN			4	842	-			164					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.491G>A	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	36	5.605901	0.96626	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.95588	-3.75;-3.75;-3.75	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.992;0.992;0.996;0.997	D	0.98516	1.0621	10	0.87932	D	0	-11.6664	19.2792	0.94046	0.0:1.0:0.0:0.0	.	164;164;164;164	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	Q	164	ENSP00000356669:R164Q;ENSP00000258349:R164Q;ENSP00000356667:R164Q	ENSP00000258349:R164Q	R	-	2	0	RC3H1	172219280	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.630000	0.89119	0.557000	0.71058	CGA		0.512	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		13	67	0	0	0	1	0	13	67				
PRSS53	339105	broad.mit.edu	37	16	31097782	31097782	+	Missense_Mutation	SNP	C	C	T	rs374267853		TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr16:31097782C>T	ENST00000280606.6	-	5	692	c.539G>A	c.(538-540)cGt>cAt	p.R180H		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	180	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						ACTGATGAGACGCAGGCGCAG	0.622																																						ENST00000280606.6																			0				large_intestine(1)|lung(3)	4						c.(538-540)cGt>cAt		protease, serine, 53		C	HIS/ARG	1,4157		0,1,2078	38.0	45.0	42.0		539	4.7	1.0	16		42	0,8440		0,0,4220	no	missense	PRSS53	NM_001039503.2	29	0,1,6298	TT,TC,CC		0.0,0.0241,0.0079	probably-damaging	180/554	31097782	1,12597	2079	4220	6299	SO:0001583	missense	339105				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:31097782C>T		CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"""Serine peptidases / Serine peptidases"""	34407	protein-coding gene	gene with protein product	"""polyserase 3"""	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.539G>A	16.37:g.31097782C>T	ENSP00000280606:p.Arg180His						p.R180H	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN			5	692	-			180			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000280606.6	37	c.539G>A	CCDS42153.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806625	0.50421	2.41E-4	0.0	ENSG00000151006	ENST00000280606	D	0.89050	-2.46	5.66	4.72	0.59763	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.37178	U	0.002216	D	0.89918	0.6854	L	0.35593	1.075	0.39652	D	0.97048	D	0.89917	1.0	D	0.83275	0.996	D	0.90111	0.4192	10	0.62326	D	0.03	.	8.6729	0.34161	0.0:0.8294:0.0:0.1706	.	180	Q2L4Q9	PRS53_HUMAN	H	180	ENSP00000280606:R180H	ENSP00000280606:R180H	R	-	2	0	PRSS53	31005283	0.839000	0.29477	0.998000	0.56505	0.345000	0.29048	0.745000	0.26259	1.399000	0.46721	0.655000	0.94253	CGT		0.622	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4	NM_001081268		14	52	0	0	0	1	0	14	52				
NCOA4	8031	broad.mit.edu	37	10	51580587	51580587	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr10:51580587G>A	ENST00000443446.1	+	3	402	c.173G>A	c.(172-174)cGt>cAt	p.R58H	NCOA4_ENST00000344348.6_Missense_Mutation_p.R58H|NCOA4_ENST00000452682.1_Missense_Mutation_p.R74H|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000374087.4_Missense_Mutation_p.R58H|NCOA4_ENST00000374082.1_Missense_Mutation_p.R58H|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000438493.1_Missense_Mutation_p.R74H|NCOA4_ENST00000430396.2_5'UTR	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	58					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TGCATAAGCCGTCACCTGGAA	0.433			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(220-222)cGt>cAt		nuclear receptor coactivator 4							148.0	140.0	143.0					10																	51580587		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51580587G>A	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.173G>A	10.37:g.51580587G>A	ENSP00000390713:p.Arg58His					NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000430396.2_5'UTR|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Missense_Mutation_p.R58H|NCOA4_ENST00000374087.4_Missense_Mutation_p.R58H|NCOA4_ENST00000443446.1_Missense_Mutation_p.R58H|NCOA4_ENST00000374082.1_Missense_Mutation_p.R58H|NCOA4_ENST00000438493.1_Missense_Mutation_p.R74H	p.R74H	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			4	473	+			58					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.221G>A	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763503	0.69763	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000374087;ENST00000330923;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32	5.9	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	L	0.35854	1.095	0.80722	D	1	B;B;D	0.89917	0.26;0.26;1.0	B;B;D	0.78314	0.039;0.057;0.991	T	0.56408	-0.7984	10	0.87932	D	0	-13.9917	17.2074	0.86921	0.0:0.1259:0.8741:0.0	.	74;74;58	B4E260;E9PAV7;Q13772	.;.;NCOA4_HUMAN	H	74;74;58;58;58;58;58	ENSP00000405146:R74H;ENSP00000395465:R74H;ENSP00000363200:R58H;ENSP00000344552:R58H;ENSP00000363195:R58H;ENSP00000390713:R58H	ENSP00000332421:R58H	R	+	2	0	NCOA4	51250593	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	8.946000	0.92992	1.489000	0.48450	0.563000	0.77884	CGT		0.433	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		25	140	0	0	0	1	0	25	140				
MALAT1	378938	broad.mit.edu	37	11	65268712	65268712	+	lincRNA	SNP	T	T	G			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr11:65268712T>G	ENST00000534336.1	+	0	3480				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TTTGTGGGGGTGGGGGCAAAA	0.393																																						ENST00000534336.1																			0																																																			378938							g.chr11:65268712T>G	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268712T>G								NR_002819.2						0	3480	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.393	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		8	21	0	0	0	1	0	8	21				
EPHX4	253152	broad.mit.edu	37	1	92528795	92528795	+	Silent	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:92528795C>T	ENST00000370383.4	+	7	1139	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	347						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ACATAGTGAACAAATTGATAT	0.313																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(1039-1041)aaC>aaT		epoxide hydrolase 4							51.0	54.0	53.0					1																	92528795		2203	4300	6503	SO:0001819	synonymous_variant	253152					integral to membrane	hydrolase activity	g.chr1:92528795C>T	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.1041C>T	1.37:g.92528795C>T							p.N347N	NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN			7	1139	+			347					Q8NCC6	Silent	SNP	ENST00000370383.4	37	c.1041C>T	CCDS736.1																																																																																				0.313	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		7	31	0	0	0	1	0	7	31				
ASH1L	55870	broad.mit.edu	37	1	155450764	155450764	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:155450764C>A	ENST00000368346.3	-	3	2536	c.1897G>T	c.(1897-1899)Gta>Tta	p.V633L	ASH1L_ENST00000392403.3_Missense_Mutation_p.V633L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	633					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GAATCATTTACCTCTTTATCA	0.353																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(1897-1899)Gta>Tta		ash1 (absent, small, or homeotic)-like (Drosophila)							70.0	75.0	73.0					1																	155450764		2203	4298	6501	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155450764C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.1897G>T	1.37:g.155450764C>A	ENSP00000357330:p.Val633Leu					ASH1L_ENST00000392403.3_Missense_Mutation_p.V633L	p.V633L			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	2536	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		633					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.1897G>T		.	.	.	.	.	.	.	.	.	.	C	0.066	-1.213520	0.01555	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.84873	-1.91;-1.91	5.23	3.35	0.38373	.	0.363325	0.24100	N	0.041546	T	0.39600	0.1084	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47799	-0.9089	10	0.02654	T	1	.	7.0105	0.24859	0.1413:0.2982:0.5605:0.0	.	633;633	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	L	633	ENSP00000357330:V633L;ENSP00000376204:V633L	ENSP00000357330:V633L	V	-	1	0	ASH1L	153717388	0.067000	0.21026	1.000000	0.80357	0.851000	0.48451	0.197000	0.17197	0.895000	0.36342	-0.165000	0.13383	GTA		0.353	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		6	56	1	0	0.00116845	1	0.00121881	6	56				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			645528							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		4	48	0	0	0	1	0	4	48				
CDK8	1024	broad.mit.edu	37	13	26959417	26959417	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr13:26959417T>C	ENST00000381527.3	+	6	1087	c.584T>C	c.(583-585)gTt>gCt	p.V195A	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CCAGTGGTTGTTACATTCTGG	0.358																																						ENST00000381527.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25						c.(583-585)gTt>gCt		cyclin-dependent kinase 8							92.0	93.0	93.0					13																	26959417		2203	4300	6503	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26959417T>C	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.584T>C	13.37:g.26959417T>C	ENSP00000370938:p.Val195Ala					CDK8_ENST00000536792.1_3'UTR	p.V195A	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	6	1087	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	195			Protein kinase.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.584T>C	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774057	0.90108	.	.	ENSG00000132964	ENST00000381527	T	0.64991	-0.13	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75309	0.3832	L	0.53729	1.69	0.80722	D	1	D;D	0.65815	0.994;0.995	D;D	0.70016	0.944;0.967	T	0.77726	-0.2480	10	0.87932	D	0	-13.5427	15.9867	0.80160	0.0:0.0:0.0:1.0	.	195;195	P49336-2;P49336	.;CDK8_HUMAN	A	195	ENSP00000370938:V195A	ENSP00000370938:V195A	V	+	2	0	CDK8	25857417	1.000000	0.71417	0.887000	0.34795	0.978000	0.69477	7.661000	0.83786	2.176000	0.68965	0.528000	0.53228	GTT		0.358	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			11	52	0	0	0	1	0	11	52				
DNAH8	1769	broad.mit.edu	37	6	38775449	38775449	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr6:38775449C>T	ENST00000359357.3	+	22	2817	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	DNAH8_ENST00000441566.1_Missense_Mutation_p.R855W|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1072W			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	855					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R855W(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAAGCTACACGGTTATCTCT	0.328																																						ENST00000359357.3																			2	Substitution - Missense(2)	p.R855W(2)	lung(2)	NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(2563-2565)Cgg>Tgg		dynein, axonemal, heavy chain 8							110.0	111.0	110.0					6																	38775449		2203	4298	6501	SO:0001583	missense	1769							g.chr6:38775449C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2563C>T	6.37:g.38775449C>T	ENSP00000352312:p.Arg855Trp					DNAH8_ENST00000449981.2_Missense_Mutation_p.R1072W|DNAH8_ENST00000441566.1_Missense_Mutation_p.R855W	p.R855W							22	2817	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.2563C>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.060188	0.76074	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.31769	1.55;1.55;1.48	6.07	0.503	0.16940	.	0.135191	0.47852	D	0.000210	T	0.32823	0.0842	M	0.61703	1.905	0.40631	D	0.98185	D	0.89917	1.0	D	0.81914	0.995	T	0.15809	-1.0424	10	0.59425	D	0.04	.	7.0736	0.25191	0.3548:0.5049:0.0:0.1403	.	855	Q96JB1	DYH8_HUMAN	W	1060;1060;855;855	ENSP00000333363:R1060W;ENSP00000352312:R855W;ENSP00000402294:R855W	ENSP00000333363:R1060W	R	+	1	2	DNAH8	38883427	0.999000	0.42202	0.961000	0.40146	0.993000	0.82548	1.645000	0.37238	0.133000	0.18654	0.650000	0.86243	CGG		0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		8	62	0	0	0	1	0	8	62				
MUC16	94025	broad.mit.edu	37	19	9003333	9003333	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr19:9003333C>T	ENST00000397910.4	-	50	40305	c.40102G>A	c.(40102-40104)Gtc>Atc	p.V13368I	MUC16_ENST00000380951.5_Missense_Mutation_p.V9I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13370	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGAGCTGACACTGGTGTTC	0.532																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(40102-40104)Gtc>Atc		mucin 16, cell surface associated							104.0	94.0	97.0					19																	9003333		1995	4157	6152	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9003333C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40102G>A	19.37:g.9003333C>T	ENSP00000381008:p.Val13368Ile					MUC16_ENST00000380951.5_Missense_Mutation_p.V9I	p.V13368I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			50	40305	-			13370			SEA 9.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40102G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	3.080	-0.189234	0.06299	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.32272	2.0;1.46	3.24	-1.68	0.08212	SEA (1);	.	.	.	.	T	0.28267	0.0698	L	0.43152	1.355	.	.	.	B;P	0.44090	0.019;0.826	B;P	0.53912	0.017;0.737	T	0.38178	-0.9673	8	0.02654	T	1	-0.9128	6.3156	0.21188	0.0:0.3587:0.0:0.6413	.	21013;13368	Q8WXI7;B5ME49	MUC16_HUMAN;.	I	13368;9	ENSP00000381008:V13368I;ENSP00000370338:V9I	ENSP00000370338:V9I	V	-	1	0	MUC16	8864333	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-2.351000	0.01092	-0.153000	0.11137	0.455000	0.32223	GTC		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		31	51	0	0	0	1	0	31	51				
WDR1	9948	broad.mit.edu	37	4	10083028	10083028	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr4:10083028C>T	ENST00000499869.2	-	11	1430	c.1237G>A	c.(1237-1239)Gta>Ata	p.V413I	WDR1_ENST00000382452.2_Missense_Mutation_p.V413I|WDR1_ENST00000382451.2_Missense_Mutation_p.V273I|MIR3138_ENST00000585238.1_RNA|WDR1_ENST00000502702.1_Missense_Mutation_p.V273I|WDR1_ENST00000515743.1_5'UTR			O75083	WDR1_HUMAN	WD repeat domain 1	413					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCGACGGCTACGCACTTTGGC	0.572																																						ENST00000382452.2																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(1237-1239)Gta>Ata		WD repeat domain 1							85.0	92.0	90.0					4																	10083028		2038	4183	6221	SO:0001583	missense	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10083028C>T	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1237G>A	4.37:g.10083028C>T	ENSP00000427687:p.Val413Ile					WDR1_ENST00000502702.1_Missense_Mutation_p.V273I|WDR1_ENST00000382451.2_Missense_Mutation_p.V273I|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000499869.2_Missense_Mutation_p.V413I	p.V413I	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	11	1519	-			413					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Missense_Mutation	SNP	ENST00000499869.2	37	c.1237G>A	CCDS54740.1	.	.	.	.	.	.	.	.	.	.	C	8.400	0.841828	0.16963	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000382451;ENST00000502702;ENST00000439733	T;T;T;T	0.50813	0.73;0.73;1.09;1.09	5.29	1.38	0.22167	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.261903	0.35615	N	0.003091	T	0.36771	0.0979	L	0.48362	1.52	0.30917	N	0.728419	B;B	0.24651	0.108;0.003	B;B	0.19148	0.024;0.002	T	0.30736	-0.9968	10	0.45353	T	0.12	-7.296	9.5306	0.39191	0.3827:0.3908:0.2265:0.0	.	273;413	O75083-3;O75083	.;WDR1_HUMAN	I	413;413;273;273;248	ENSP00000427687:V413I;ENSP00000371890:V413I;ENSP00000371889:V273I;ENSP00000426725:V273I	ENSP00000371889:V273I	V	-	1	0	WDR1	9692126	0.999000	0.42202	0.003000	0.11579	0.017000	0.09413	1.567000	0.36407	0.004000	0.14682	0.467000	0.42956	GTA		0.572	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			13	79	0	0	0	1	0	13	79				
DNMT1	1786	broad.mit.edu	37	19	10265093	10265093	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr19:10265093G>A	ENST00000340748.4	-	21	2082	c.1847C>T	c.(1846-1848)aCg>aTg	p.T616M	DNMT1_ENST00000359526.4_Missense_Mutation_p.T632M|DNMT1_ENST00000540357.1_Missense_Mutation_p.T616M			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	616					cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GGTGGCTTTCGTGGGTCCCCT	0.547																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(1846-1848)aCg>aTg		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						166.0	167.0	166.0					19																	10265093		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10265093G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1847C>T	19.37:g.10265093G>A	ENSP00000345739:p.Thr616Met					DNMT1_ENST00000359526.4_Missense_Mutation_p.T632M|DNMT1_ENST00000540357.1_Missense_Mutation_p.T616M	p.T616M			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		21	2082	-			616					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.1847C>T	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135191	0.77662	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.30981	1.87;1.51;1.51	5.97	4.9	0.64082	.	0.097711	0.64402	N	0.000002	T	0.52917	0.1764	M	0.70275	2.135	0.51482	D	0.999924	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.50389	-0.8834	10	0.25751	T	0.34	.	14.5441	0.68015	0.0:0.0:0.8223:0.1777	.	616;632;616	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	M	632;616;616;484	ENSP00000352516:T632M;ENSP00000440457:T616M;ENSP00000345739:T616M	ENSP00000345739:T616M	T	-	2	0	DNMT1	10126093	1.000000	0.71417	0.965000	0.40720	0.990000	0.78478	7.805000	0.86005	1.359000	0.45940	0.655000	0.94253	ACG		0.547	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		102	141	0	0	0	1	0	102	141				
PCLO	27445	broad.mit.edu	37	7	82764239	82764239	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr7:82764239G>A	ENST00000333891.9	-	3	2964	c.2627C>T	c.(2626-2628)cCa>cTa	p.P876L	PCLO_ENST00000423517.2_Missense_Mutation_p.P876L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGGGGTGTTGGTGACCCTTT	0.517																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(2626-2628)cCa>cTa		piccolo presynaptic cytomatrix protein							198.0	199.0	199.0					7																	82764239		1992	4168	6160	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764239G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2627C>T	7.37:g.82764239G>A	ENSP00000334319:p.Pro876Leu					PCLO_ENST00000333891.8_Missense_Mutation_p.P876L	p.P876L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	2964	-			822			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2627C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	9.840	1.190811	0.21954	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16457	2.34;2.35	6.07	5.19	0.71726	.	.	.	.	.	T	0.18383	0.0441	L	0.57536	1.79	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.10450	0.005;0.005	T	0.03534	-1.1027	9	0.87932	D	0	.	8.6085	0.33789	0.0749:0.0:0.6822:0.2428	.	876;876	Q9Y6V0-5;Q9Y6V0-6	.;.	L	822;876;876	ENSP00000334319:P876L;ENSP00000388393:P876L	ENSP00000334319:P876L	P	-	2	0	PCLO	82602175	0.998000	0.40836	0.870000	0.34147	0.995000	0.86356	3.215000	0.51169	1.581000	0.49865	0.655000	0.94253	CCA		0.517	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		52	270	0	0	0	1	0	52	270				
ARRB2	409	broad.mit.edu	37	17	4619834	4619834	+	Silent	SNP	G	G	C			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr17:4619834G>C	ENST00000269260.2	+	5	521	c.288G>C	c.(286-288)cgG>cgC	p.R96R	ARRB2_ENST00000412477.3_Silent_p.R96R|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000381488.6_Silent_p.R81R|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000346341.2_Silent_p.R81R|ARRB2_ENST00000575877.1_Silent_p.R96R|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	96					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						ACCCACCCCGGCCCCCCACCC	0.672																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(286-288)cgG>cgC		arrestin, beta 2							13.0	13.0	13.0					17																	4619834		2198	4287	6485	SO:0001819	synonymous_variant	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4619834G>C		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.288G>C	17.37:g.4619834G>C						ARRB2_ENST00000381488.6_Silent_p.R81R|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000412477.3_Silent_p.R96R|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.R81R|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000575877.1_Silent_p.R96R|ARRB2_ENST00000570718.1_3'UTR	p.R96R	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			5	521	+			96					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Silent	SNP	ENST00000269260.2	37	c.288G>C	CCDS11050.1																																																																																				0.672	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		7	14	0	0	0	1	0	7	14				
IFNGR2	3460	broad.mit.edu	37	21	34809233	34809233	+	Silent	SNP	G	G	A	rs17885407	byFrequency	TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr21:34809233G>A	ENST00000290219.6	+	7	1626	c.978G>A	c.(976-978)ccG>ccA	p.P326P	IFNGR2_ENST00000381995.1_Silent_p.P345P|IFNGR2_ENST00000405436.1_Silent_p.P247P|TMEM50B_ENST00000468874.2_5'UTR	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	326					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)	p.P326P(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TCTCGTTTCCGGAAAAGGAGC	0.502													G|||	4	0.000798722	0.0	0.0	5008	,	,		14240	0.0		0.004	False		,,,				2504	0.0					ENST00000290219.6																			1	Substitution - coding silent(1)	p.P326P(1)	kidney(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(976-978)ccG>ccA		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)	G		4,4402	8.1+/-20.4	0,4,2199	109.0	91.0	97.0		978	2.4	0.6	21	dbSNP_124	97	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous	IFNGR2	NM_005534.3		0,21,6482	AA,AG,GG		0.1977,0.0908,0.1615		326/338	34809233	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34809233G>A		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.978G>A	21.37:g.34809233G>A						TMEM50B_ENST00000468874.2_5'UTR|IFNGR2_ENST00000381995.1_Silent_p.P345P|IFNGR2_ENST00000405436.1_Silent_p.P247P	p.P326P	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			7	1626	+			326					Q9BTL5	Silent	SNP	ENST00000290219.6	37	c.978G>A	CCDS33544.1																																																																																				0.502	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			6	53	0	0	0	1	0	6	53				
FXR1	8087	broad.mit.edu	37	3	180688142	180688142	+	Silent	SNP	G	G	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr3:180688142G>T	ENST00000357559.4	+	15	1983	c.1599G>T	c.(1597-1599)ggG>ggT	p.G533G	FXR1_ENST00000491062.1_Silent_p.G484G|FXR1_ENST00000305586.7_Silent_p.G448G|FXR1_ENST00000468861.1_Silent_p.G448G|FXR1_ENST00000445140.2_Silent_p.G533G|FXR1_ENST00000480918.1_Silent_p.G520G	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	533					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ATGAAAATGGGCTAGGTATGT	0.323																																						ENST00000357559.4																			0				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(1597-1599)ggG>ggT		fragile X mental retardation, autosomal homolog 1							91.0	81.0	84.0					3																	180688142		2203	4300	6503	SO:0001819	synonymous_variant	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180688142G>T	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1599G>T	3.37:g.180688142G>T						FXR1_ENST00000445140.2_Silent_p.G533G|FXR1_ENST00000491062.1_Silent_p.G484G|FXR1_ENST00000468861.1_Silent_p.G448G|FXR1_ENST00000480918.1_Silent_p.G520G|FXR1_ENST00000305586.7_Silent_p.G448G	p.G533G	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		15	1983	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		533					A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	ENST00000357559.4	37	c.1599G>T	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	G	8.188	0.795267	0.16327	.	.	ENSG00000114416	ENST00000482125	T	0.57436	0.4	5.91	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.56140	0.1965	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59742	-0.7397	7	0.87932	D	0	-4.7683	5.0226	0.14369	0.0779:0.2028:0.5499:0.1694	.	.	.	.	V	134	ENSP00000418027:G134V	ENSP00000418027:G134V	G	+	2	0	FXR1	182170836	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.057000	0.41365	1.498000	0.48600	0.650000	0.86243	GGC		0.323	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			7	71	1	0	0.00307968	1	0.00313144	7	71				
TECPR2	9895	broad.mit.edu	37	14	102898197	102898197	+	Silent	SNP	G	G	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr14:102898197G>T	ENST00000359520.7	+	8	1375	c.1149G>T	c.(1147-1149)ctG>ctT	p.L383L	TECPR2_ENST00000558678.1_Silent_p.L383L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	383					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CGGAGAAGCTGCCAGGGGCCA	0.582																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(1147-1149)ctG>ctT		tectonin beta-propeller repeat containing 2							62.0	65.0	64.0					14																	102898197		2203	4300	6503	SO:0001819	synonymous_variant	9895						protein binding	g.chr14:102898197G>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1149G>T	14.37:g.102898197G>T						TECPR2_ENST00000558678.1_Silent_p.L383L	p.L383L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			8	1375	+			383					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	c.1149G>T	CCDS32162.1																																																																																				0.582	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		7	132	1	0	0.00307968	1	0.00313144	7	132				
SLC17A9	63910	broad.mit.edu	37	20	61597910	61597910	+	Silent	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr20:61597910G>A	ENST00000370351.4	+	11	1226	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	SLC17A9_ENST00000370349.3_Silent_p.P359P|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	365					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						ACTTGGCCCCGTCCTGCGCCG	0.647																																						ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(1075-1077)ccG>ccA		solute carrier family 17 (vesicular nucleotide transporter), member 9							127.0	128.0	128.0					20																	61597910		1934	4126	6060	SO:0001819	synonymous_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61597910G>A	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.1095G>A	20.37:g.61597910G>A						SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Silent_p.P365P	p.P359P			Q9BYT1	S17A9_HUMAN			12	1281	+			365					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	ENST00000370351.4	37	c.1077G>A	CCDS42901.1																																																																																				0.647	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		45	174	0	0	0	1	0	45	174				
CSMD1	64478	broad.mit.edu	37	8	3267060	3267060	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr8:3267060G>C	ENST00000520002.1	-	14	2187	c.1632C>G	c.(1630-1632)ttC>ttG	p.F544L	CSMD1_ENST00000400186.3_Missense_Mutation_p.F544L|CSMD1_ENST00000539096.1_Missense_Mutation_p.F543L|CSMD1_ENST00000602723.1_Missense_Mutation_p.F544L|CSMD1_ENST00000542608.1_Missense_Mutation_p.F543L|CSMD1_ENST00000602557.1_Missense_Mutation_p.F544L|CSMD1_ENST00000537824.1_Missense_Mutation_p.F543L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	544	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCCATGGAGGAAACTGCTGC	0.507																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(1630-1632)ttC>ttG		CUB and Sushi multiple domains 1							38.0	39.0	39.0					8																	3267060		1885	4111	5996	SO:0001583	missense	64478					integral to membrane		g.chr8:3267060G>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1632C>G	8.37:g.3267060G>C	ENSP00000430733:p.Phe544Leu					CSMD1_ENST00000400186.3_Missense_Mutation_p.F544L|CSMD1_ENST00000520002.1_Missense_Mutation_p.F544L|CSMD1_ENST00000542608.1_Missense_Mutation_p.F543L|CSMD1_ENST00000539096.1_Missense_Mutation_p.F543L|CSMD1_ENST00000537824.1_Missense_Mutation_p.F543L|CSMD1_ENST00000602723.1_Missense_Mutation_p.F544L	p.F544L			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	14	2187	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	544			Sushi 3.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.1632C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.64|14.64	2.596434|2.596434	0.46318|0.46318	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.68025|.	-0.3;-0.3;-0.3;-0.3;-0.3|.	5.26|5.26	-1.04|-1.04	0.10068|0.10068	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63651|0.63651	0.2529|0.2529	M|M	0.71871|0.71871	2.18|2.18	0.34023|0.34023	D|D	0.652957|0.652957	D|.	0.60575|.	0.988|.	D|.	0.74348|.	0.983|.	T|T	0.69767|0.69767	-0.5056|-0.5056	10|5	0.54805|.	T|.	0.06|.	.|.	11.9917|11.9917	0.53180|0.53180	0.6204:0.0:0.3796:0.0|0.6204:0.0:0.3796:0.0	.|.	544|.	E5RIG2|.	.|.	L|A	544;544;406;543;543;543|24	ENSP00000383047:F544L;ENSP00000430733:F544L;ENSP00000441462:F543L;ENSP00000446243:F543L;ENSP00000441675:F543L|.	ENSP00000320445:F406L|.	F|P	-|-	3|1	2|0	CSMD1|CSMD1	3254468|3254468	0.998000|0.998000	0.40836|0.40836	0.856000|0.856000	0.33681|0.33681	0.826000|0.826000	0.46750|0.46750	0.755000|0.755000	0.26405|0.26405	-0.293000|-0.293000	0.08986|0.08986	-0.510000|-0.510000	0.04470|0.04470	TTC|CCT		0.507	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	13	0	0	0	1	0	6	13				
VSTM1	284415	broad.mit.edu	37	19	54544333	54544333	+	Splice_Site	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr19:54544333G>A	ENST00000338372.2	-	9	768	c.593C>T	c.(592-594)aCg>aTg	p.T198M	VSTM1_ENST00000366170.2_Splice_Site_p.T110M|VSTM1_ENST00000376626.1_Splice_Site_p.T167M|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	198					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		GGGGTCTGCCGTCTTTGGAGA	0.453																																						ENST00000338372.2																			0				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.e9-1		V-set and transmembrane domain containing 1							31.0	29.0	30.0					19																	54544333		2203	4300	6503	SO:0001630	splice_region_variant	284415					integral to membrane		g.chr19:54544333G>A	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.592-1C>T	19.37:g.54544333G>A						VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Splice_Site_p.T167_splice|VSTM1_ENST00000366170.2_Splice_Site_p.T110_splice	p.T198_splice	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	9	768	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		198					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Splice_Site	SNP	ENST00000338372.2	37	c.591_splice	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381216	0.42207	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.48201	2.61;6.86;6.55;0.82	2.44	2.44	0.29823	.	.	.	.	.	T	0.37945	0.1022	L	0.27053	0.805	0.33386	D	0.575475	D;D	0.67145	0.996;0.996	P;P	0.48677	0.586;0.586	T	0.47522	-0.9111	9	0.33940	T	0.23	.	8.5889	0.33674	0.0:0.0:1.0:0.0	.	167;198	D2DJS4;Q6UX27	.;VSTM1_HUMAN	M	88;198;167;110	ENSP00000409412:T88M;ENSP00000343366:T198M;ENSP00000365813:T167M;ENSP00000444153:T110M	ENSP00000343366:T198M	T	-	2	0	VSTM1	59236145	0.000000	0.05858	0.002000	0.10522	0.057000	0.15508	0.112000	0.15479	1.715000	0.51383	0.585000	0.79938	ACG		0.453	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481	Missense_Mutation	8	22	0	0	0	1	0	8	22				
GABRB1	2560	broad.mit.edu	37	4	47034444	47034444	+	Silent	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr4:47034444C>T	ENST00000295454.3	+	3	475	c.183C>T	c.(181-183)gtC>gtT	p.V61V	GABRB1_ENST00000509366.1_3'UTR|GABRB1_ENST00000538619.1_Intron	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	61					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGCCCCCCGTCGACGTTGGGA	0.627																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(181-183)gtC>gtT		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						106.0	112.0	110.0					4																	47034444		2203	4300	6503	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47034444C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.183C>T	4.37:g.47034444C>T						GABRB1_ENST00000509366.1_3'UTR|GABRB1_ENST00000538619.1_Intron	p.V61V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			3	475	+			61					B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.183C>T	CCDS3474.1																																																																																				0.627	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			46	238	0	0	0	1	0	46	238				
ZNF282	8427	broad.mit.edu	37	7	148907754	148907754	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr7:148907754C>T	ENST00000262085.3	+	5	1015	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	ZNF282_ENST00000479907.1_Missense_Mutation_p.R304W	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	304					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CCGGGGTCAGCGGGGCCTGGA	0.642																																						ENST00000262085.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(910-912)Cgg>Tgg		zinc finger protein 282							54.0	49.0	51.0					7																	148907754		2203	4300	6503	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148907754C>T	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.910C>T	7.37:g.148907754C>T	ENSP00000262085:p.Arg304Trp					ZNF282_ENST00000479907.1_Missense_Mutation_p.R304W	p.R304W	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	5	1015	+	Melanoma(164;0.15)		304					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.910C>T	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877637	0.51801	.	.	ENSG00000170265	ENST00000262085;ENST00000479907	T;T	0.06687	3.27;5.1	5.29	3.25	0.37280	.	0.000000	0.43260	D	0.000582	T	0.17152	0.0412	L	0.61218	1.895	0.34204	D	0.673477	D;D;D	0.71674	0.993;0.997;0.998	P;P;P	0.53490	0.727;0.727;0.638	T	0.28004	-1.0057	10	0.66056	D	0.02	-25.0402	11.6059	0.51031	0.3324:0.6676:0.0:0.0	.	304;276;304	B4DRI5;Q7Z2V4;Q9UDV7	.;.;ZN282_HUMAN	W	304	ENSP00000262085:R304W;ENSP00000418840:R304W	ENSP00000262085:R304W	R	+	1	2	ZNF282	148538687	0.045000	0.20229	0.979000	0.43373	0.552000	0.35366	0.114000	0.15520	1.195000	0.43115	0.563000	0.77884	CGG		0.642	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		5	21	0	0	0	1	0	5	21				
C5orf34	375444	broad.mit.edu	37	5	43506091	43506091	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr5:43506091G>A	ENST00000306862.2	-	4	1066	c.691C>T	c.(691-693)Cac>Tac	p.H231Y	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	231										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					ACACATGTGTGCTTTGTACCA	0.423																																						ENST00000306862.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21						c.(691-693)Cac>Tac		chromosome 5 open reading frame 34							139.0	135.0	136.0					5																	43506091		2203	4300	6503	SO:0001583	missense	375444							g.chr5:43506091G>A	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.691C>T	5.37:g.43506091G>A	ENSP00000303490:p.His231Tyr					RP11-159F24.3_ENST00000505645.1_RNA	p.H231Y	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN			4	1066	-	Lung NSC(6;2.07e-05)		231						Missense_Mutation	SNP	ENST00000306862.2	37	c.691C>T	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.799016	0.00617	.	.	ENSG00000172244	ENST00000306862;ENST00000509489	T	0.41758	0.99	4.96	-0.866	0.10659	.	1.154360	0.06045	N	0.655622	T	0.17831	0.0428	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18967	-1.0320	10	0.07325	T	0.83	0.3814	1.0232	0.01522	0.2557:0.3673:0.2108:0.1662	.	231	Q96MH7	CE034_HUMAN	Y	231;117	ENSP00000303490:H231Y	ENSP00000303490:H231Y	H	-	1	0	C5orf34	43541848	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	0.453000	0.21811	0.126000	0.18424	0.591000	0.81541	CAC		0.423	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		15	128	0	0	0	1	0	15	128				
CROCCP2	84809	broad.mit.edu	37	1	16960898	16960913	+	lincRNA	DEL	GTGTGTGTGTGTGTGC	GTGTGTGTGTGTGTGC	-	rs2419216|rs377707334|rs2900842|rs2900841|rs201827153|rs558916148|rs3962301|rs849691|rs200516366|rs57278109	byFrequency	TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:16960898_16960913delGTGTGTGTGTGTGTGC	ENST00000412962.1	-	0	16							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											gtgtgtgtgtgtgtgtgtgtgtgtgcgcgtgtgtgA	0.431																																						ENST00000412962.1																			0																																																			84809							g.chr1:16960898_16960913delGTGTGTGTGTGTGTGC	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16960898_16960913delGTGTGTGTGTGTGTGC														0	16	-								Q8NF65|Q96FR5|Q9BRE8	RNA	DEL	ENST00000412962.1	37																																																																																						0.431	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		2	4						2	4	---	---	---	---
SFN	2810	broad.mit.edu	37	1	27190360	27190363	+	Frame_Shift_Del	DEL	CATG	CATG	-			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:27190360_27190363delCATG	ENST00000339276.4	+	1	728_731	c.657_660delCATG	c.(655-660)atcatgfs	p.IM219fs		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GCACCCTCATCATGCAGCTGCTGC	0.642																																						ENST00000339276.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9						c.(655-660)atfs		stratifin																																				SO:0001589	frameshift_variant	2810				DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	g.chr1:27190360_27190363delCATG	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.657_660delCATG	1.37:g.27190360_27190363delCATG	ENSP00000340989:p.Ile219fs						p.IM219fs	NM_006142.3	NP_006133.1	P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	1	728_731	+		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	219					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Frame_Shift_Del	DEL	ENST00000339276.4	37	c.657_660delCATG	CCDS288.1																																																																																				0.642	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		30	166						30	166	---	---	---	---
ZNF660	285349	broad.mit.edu	37	3	44636019	44636019	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr3:44636019delG	ENST00000322734.2	+	3	667	c.334delG	c.(334-336)gggfs	p.G112fs	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CAGTGAATGTGGGAAATCTTT	0.438																																						ENST00000322734.2																			0				large_intestine(2)|lung(4)	6						c.(334-336)ggfs		zinc finger protein 660							68.0	75.0	72.0					3																	44636019		2203	4300	6503	SO:0001589	frameshift_variant	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44636019delG	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.334delG	3.37:g.44636019delG	ENSP00000324605:p.Gly112fs					RP11-944L7.4_ENST00000457331.1_RNA	p.G112fs	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	667	+			112					Q7Z331|Q8N9M8	Frame_Shift_Del	DEL	ENST00000322734.2	37	c.334delG	CCDS2716.1																																																																																				0.438	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		19	105						19	105	---	---	---	---
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294																																						ENST00000473299.1																			0																																																			0							g.chr3:146995077delA																													3.37:g.146995077delA														0	132	-									RNA	DEL	ENST00000473299.1	37																																																																																						0.294	RP11-649A16.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000355522.1			3	5						3	5	---	---	---	---
AQP11	282679	broad.mit.edu	37	11	77301070	77301072	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr11:77301070_77301072delGCA	ENST00000313578.3	+	1	391_393	c.33_35delGCA	c.(31-36)ctgcag>ctg	p.Q12del	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	12					endosomal lumen acidification (GO:0048388)|protein homooligomerization (GO:0051260)|proximal tubule development (GO:0072014)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GGTCCGAGCTGCAGGACACCTGC	0.724																																						ENST00000313578.3																			0				kidney(2)|large_intestine(1)|lung(5)	8						c.(31-36)ctg>ct		aquaporin 11																																				SO:0001651	inframe_deletion	282679					cell surface|integral to membrane	transporter activity	g.chr11:77301070_77301072delGCA	AB028147	CCDS8251.1	11q13.5	2008-02-05			ENSG00000178301	ENSG00000178301		"""Ion channels / Aquaporins"""	19940	protein-coding gene	gene with protein product		609914				16107722	Standard	NM_173039		Approved		uc001oyj.3	Q8NBQ7	OTTHUMG00000165194	ENST00000313578.3:c.33_35delGCA	11.37:g.77301070_77301072delGCA	ENSP00000318770:p.Gln12del					AQP11_ENST00000528638.1_Intron	p.LQ11del	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)		1	391_393	+	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		11						In_Frame_Del	DEL	ENST00000313578.3	37	c.33_35delGCA	CCDS8251.1																																																																																				0.724	AQP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382582.1	NM_173039		9	37						9	37	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30396622	30396623	+	In_Frame_Ins	INS	-	-	CCCGGA	rs200987283|rs139860047|rs45471692	byFrequency	TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr14:30396622_30396623insCCCGGA	ENST00000331968.5	-	1	325_326	c.96_97insTCCGGG	c.(94-99)gggccc>gggTCCGGGccc	p.31_32insGS	PRKD1_ENST00000415220.2_In_Frame_Ins_p.31_32insGS	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	31					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCGGGCCCGGGCCCGGACCCTG	0.762														343	0.0684904	0.003	0.0548	5008	,	,		4659	0.1567		0.0507	False		,,,				2504	0.0941					ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(94-99)ggccgg>ggTCCGGGccgg		protein kinase D1				31,2319		11,9,1155						3.1	1.0		dbSNP_127	3	234,5084		58,118,2483	no	coding	PRKD1	NM_002742.2		69,127,3638	A1A1,A1R,RR		4.4002,1.3191,3.4559				265,7403				SO:0001652	inframe_insertion	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30396622_30396623insCCCGGA		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.91_96dupTCCGGG	14.37:g.30396623_30396628dupCCCGGA	ENSP00000333568:p.Gly30_Ser31dup					PRKD1_ENST00000415220.2_In_Frame_Ins_p.35_36insGP	p.35_36insGP	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	1	325_326	-	Hepatocellular(127;0.0604)		35					A6NL64|B2RAF6	In_Frame_Ins	INS	ENST00000331968.5	37	c.96_97insTCCGGG	CCDS9637.1																																																																																				0.762	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		3	3						3	3	---	---	---	---
