#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
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33.0	42.0	39.0					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	77	0	0	0	1	0	4	77				
DNAH8	1769	broad.mit.edu	37	6	38854566	38854566	+	Splice_Site	SNP	G	G	C			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr6:38854566G>C	ENST00000359357.3	+	55	7862		c.e55-1		DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						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)			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						TGAAATTTCAGATAACTAATG	0.338																																						ENST00000359357.3																			0				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.e55-1		dynein, axonemal, heavy chain 8							95.0	91.0	92.0					6																	38854566		2203	4300	6503	SO:0001630	splice_region_variant	1769							g.chr6:38854566G>C	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.7609-1G>C	6.37:g.38854566G>C						DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site								55	7862	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	37			.	.	.	.	.	.	.	.	.	.	G	23.9	4.472059	0.84533	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0366	0.97561	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	38962544	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.750000	0.98875	2.736000	0.93811	0.561000	0.74099	.		0.338	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Intron	7	90	0	0	0	1	0	7	90				
UBR3	130507	broad.mit.edu	37	2	170843170	170843170	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr2:170843170A>T	ENST00000272793.5	+	25	3700	c.3650A>T	c.(3649-3651)gAt>gTt	p.D1217V	UBR3_ENST00000418381.1_Missense_Mutation_p.D1217V|UBR3_ENST00000392631.1_Missense_Mutation_p.D38V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1217					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CCTGAGAATGATATTCCTATG	0.418																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(3649-3651)gAt>gTt		ubiquitin protein ligase E3 component n-recognin 3 (putative)							82.0	77.0	79.0					2																	170843170		2203	4300	6503	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170843170A>T	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3650A>T	2.37:g.170843170A>T	ENSP00000272793:p.Asp1217Val					UBR3_ENST00000418381.1_Missense_Mutation_p.D1217V|UBR3_ENST00000392631.1_Missense_Mutation_p.D38V	p.D1217V			Q6ZT12	UBR3_HUMAN			25	3700	+			1217					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.3650A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.230640|4.230640	0.79688|0.79688	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631|ENST00000392632	T;T;T|.	0.50001|.	0.85;0.85;0.76|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.100939|.	0.64402|.	D|.	0.000002|.	T|T	0.72598|0.72598	0.3480|0.3480	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	B;P;P|.	0.51791|.	0.392;0.948;0.745|.	B;P;B|.	0.49999|.	0.193;0.628;0.31|.	T|T	0.72316|0.72316	-0.4330|-0.4330	10|5	0.72032|.	D|.	0.01|.	.|.	15.5259|15.5259	0.75905|0.75905	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1217;38;1217|.	Q6ZT12;Q6ZT12-2;E7EVK3|.	UBR3_HUMAN;.;.|.	V|L	1217;1217;1217;38|275	ENSP00000272793:D1217V;ENSP00000396068:D1217V;ENSP00000376408:D38V|.	ENSP00000272793:D1217V|.	D|I	+|+	2|1	0|0	UBR3|UBR3	170551416|170551416	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.917000|0.917000	0.54804|0.54804	8.939000|8.939000	0.92951|0.92951	2.073000|2.073000	0.62155|0.62155	0.477000|0.477000	0.44152|0.44152	GAT|ATA		0.418	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		5	54	0	0	0	1	0	5	54				
THBS3	7059	broad.mit.edu	37	1	155168008	155168008	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr1:155168008T>C	ENST00000368378.3	-	18	2098	c.2078A>G	c.(2077-2079)aAt>aGt	p.N693S	THBS3_ENST00000541576.1_Missense_Mutation_p.N90S|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.N573S|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.N222S|MIR92B_ENST00000607575.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	693					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACCAACGCCATTGCCTGGGCA	0.537																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(2077-2079)aAt>aGt		thrombospondin 3							123.0	106.0	112.0					1																	155168008		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155168008T>C	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2078A>G	1.37:g.155168008T>C	ENSP00000357362:p.Asn693Ser					THBS3_ENST00000487250.1_5'UTR|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.N573S|THBS3_ENST00000428962.2_3'UTR|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541576.1_Missense_Mutation_p.N90S|THBS3_ENST00000541990.1_Missense_Mutation_p.N222S	p.N693S	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		18	2098	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		693					B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.2078A>G	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.945586	0.53079	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06	4.66	4.66	0.58398	.	0.057330	0.64402	D	0.000003	D	0.97195	0.9083	M	0.72353	2.195	0.80722	D	1	B;P;P;P	0.40681	0.361;0.727;0.727;0.727	B;B;B;B	0.42959	0.403;0.314;0.314;0.314	D	0.98190	1.0462	10	0.87932	D	0	-12.9723	12.0999	0.53776	0.0:0.0:0.0:1.0	.	573;693;693;693	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	S	693;90;573;222	ENSP00000357362:N693S;ENSP00000444792:N90S;ENSP00000392207:N573S;ENSP00000437353:N222S	ENSP00000357362:N693S	N	-	2	0	THBS3	153434632	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	7.868000	0.87116	1.952000	0.56665	0.460000	0.39030	AAT		0.537	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		37	72	0	0	0	1	0	37	72				
GBE1	2632	broad.mit.edu	37	3	81699052	81699052	+	Silent	SNP	G	G	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr3:81699052G>A	ENST00000429644.2	-	4	1093	c.450C>T	c.(448-450)agC>agT	p.S150S	GBE1_ENST00000489715.1_Silent_p.S109S	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	150					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		AGATCTCTCCGCTTTTACTAG	0.368									Glycogen Storage Disease, type IV																													ENST00000429644.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(448-450)agC>agT		glucan (1,4-alpha-), branching enzyme 1							78.0	73.0	75.0					3																	81699052		1859	4102	5961	SO:0001819	synonymous_variant	2632	Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81699052G>A		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.450C>T	3.37:g.81699052G>A						GBE1_ENST00000489715.1_Silent_p.S109S	p.S150S	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	4	1093	-		Lung NSC(201;0.0117)	150					B3KWV3|Q96EN0	Silent	SNP	ENST00000429644.2	37	c.450C>T	CCDS54612.1																																																																																				0.368	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			3	39	0	0	0	1	0	3	39				
REXO1	57455	broad.mit.edu	37	19	1828209	1828209	+	Silent	SNP	T	T	C			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr19:1828209T>C	ENST00000170168.4	-	2	673	c.579A>G	c.(577-579)ggA>ggG	p.G193G	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	193	Poly-Gly.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		CGCCACCCCCTCCACCTCTGC	0.706																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(577-579)ggA>ggG		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							16.0	20.0	18.0					19																	1828209		2193	4273	6466	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1828209T>C	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.579A>G	19.37:g.1828209T>C						REXO1_ENST00000587524.1_5'UTR	p.G193G	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_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)	2	673	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	193			Poly-Gly.		Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.579A>G	CCDS32866.1																																																																																				0.706	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		2	21	0	0	0	1	0	2	21				
KRTAP8-1	337879	broad.mit.edu	37	21	32185391	32185391	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr21:32185391C>T	ENST00000329621.4	-	1	179	c.148G>A	c.(148-150)Ggg>Agg	p.G50R		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	50	12 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)				central_nervous_system(1)|large_intestine(1)|lung(4)	6						CCGAAAGCCCCACAGCCGTTG	0.567																																						ENST00000329621.4																			0				central_nervous_system(1)|large_intestine(1)|lung(4)	6						c.(148-150)Ggg>Agg		keratin associated protein 8-1							85.0	79.0	81.0					21																	32185391		2203	4300	6503	SO:0001583	missense	0					intermediate filament		g.chr21:32185391C>T	AJ457064	CCDS13607.1	21q22.1	2006-03-13			ENSG00000183640	ENSG00000183640		"""Keratin associated proteins"""	18935	protein-coding gene	gene with protein product						12359730	Standard	NM_175857		Approved	KAP8.1	uc002you.3	Q8IUC2	OTTHUMG00000057771	ENST00000329621.4:c.148G>A	21.37:g.32185391C>T	ENSP00000332805:p.Gly50Arg						p.G50R	NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN			1	179	-			50			12 X 2 AA repeats of G-[YCGS].		Q3LI57	Missense_Mutation	SNP	ENST00000329621.4	37	c.148G>A	CCDS13607.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527788	0.27299	.	.	ENSG00000183640	ENST00000329621	T	0.07567	3.18	5.41	3.46	0.39613	.	0.341304	0.20764	N	0.086105	T	0.07818	0.0196	.	.	.	0.28917	N	0.892349	P	0.42961	0.795	B	0.43950	0.437	T	0.13361	-1.0512	9	0.24483	T	0.36	-10.6446	8.4956	0.33125	0.1746:0.6569:0.1685:0.0	.	50	Q8IUC2	KRA81_HUMAN	R	50	ENSP00000332805:G50R	ENSP00000332805:G50R	G	-	1	0	KRTAP8-1	31107262	0.808000	0.29022	0.442000	0.26870	0.288000	0.27193	0.782000	0.26788	1.402000	0.46780	0.655000	0.94253	GGG		0.567	KRTAP8-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128223.1			8	160	0	0	0	1	0	8	160				
DENND5B	160518	broad.mit.edu	37	12	31600669	31600669	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr12:31600669A>G	ENST00000389082.5	-	6	1928	c.1664T>C	c.(1663-1665)cTg>cCg	p.L555P	DENND5B_ENST00000306833.6_Missense_Mutation_p.L590P|DENND5B_ENST00000536562.1_Missense_Mutation_p.L590P|DENND5B_ENST00000354285.4_Missense_Mutation_p.L577P|snoU13_ENST00000458765.1_RNA	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	555	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAGAAATGGCAGGTAAGGCTC	0.403																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1663-1665)cTg>cCg		DENN/MADD domain containing 5B							44.0	45.0	45.0					12																	31600669		1879	4108	5987	SO:0001583	missense	160518					integral to membrane		g.chr12:31600669A>G	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1664T>C	12.37:g.31600669A>G	ENSP00000373734:p.Leu555Pro					DENND5B_ENST00000536562.1_Missense_Mutation_p.L590P|DENND5B_ENST00000306833.6_Missense_Mutation_p.L590P|DENND5B_ENST00000354285.4_Missense_Mutation_p.L577P	p.L555P	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			6	1928	-			555			dDENN.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1664T>C	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179526	0.78564	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.0	5.0	0.66597	dDENN (3);	0.093243	0.44688	D	0.000422	T	0.62780	0.2456	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.996	T	0.62978	-0.6739	10	0.39692	T	0.17	-11.9046	14.853	0.70313	1.0:0.0:0.0:0.0	.	577;555;590	Q6ZUT9-4;Q6ZUT9;G3V1S3	.;DEN5B_HUMAN;.	P	555;590;590;577	ENSP00000373734:L555P;ENSP00000306482:L590P;ENSP00000444889:L590P;ENSP00000346238:L577P	ENSP00000306482:L590P	L	-	2	0	DENND5B	31491936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.897000	0.92532	2.096000	0.63516	0.460000	0.39030	CTG		0.403	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		2	13	0	0	0	1	0	2	13				
TMX3	54495	broad.mit.edu	37	18	66367682	66367682	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr18:66367682T>C	ENST00000299608.2	-	6	668	c.352A>G	c.(352-354)Aca>Gca	p.T118A	TMX3_ENST00000443099.2_Intron|TMX3_ENST00000562706.1_Missense_Mutation_p.T118A	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	118	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TCATCTTTTGTTCGTGGTCCT	0.254																																						ENST00000299608.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(352-354)Aca>Gca		thioredoxin-related transmembrane protein 3							88.0	94.0	92.0					18																	66367682		2203	4286	6489	SO:0001583	missense	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66367682T>C	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.352A>G	18.37:g.66367682T>C	ENSP00000299608:p.Thr118Ala					TMX3_ENST00000562706.1_Missense_Mutation_p.T118A|TMX3_ENST00000443099.2_Intron	p.T118A	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN			6	668	-			118			Thioredoxin.		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	c.352A>G	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.875344	0.91664	.	.	ENSG00000166479	ENST00000299608;ENST00000544714	T	0.42131	0.98	5.99	5.99	0.97316	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	M	0.75150	2.29	0.80722	D	1	D;D	0.69078	0.991;0.997	P;D	0.68353	0.853;0.957	T	0.60571	-0.7237	10	0.28530	T	0.3	.	15.2959	0.73906	0.0:0.0:0.0:1.0	.	118;118	Q96JJ7-2;Q96JJ7	.;TMX3_HUMAN	A	118	ENSP00000299608:T118A	ENSP00000299608:T118A	T	-	1	0	TMX3	64518662	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.937000	0.87672	2.292000	0.77174	0.482000	0.46254	ACA		0.254	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		10	105	0	0	0	1	0	10	105				
NFE2L3	9603	broad.mit.edu	37	7	26224962	26224962	+	Silent	SNP	T	T	C			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr7:26224962T>C	ENST00000056233.3	+	4	1903	c.1644T>C	c.(1642-1644)ccT>ccC	p.P548P		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	548					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TGCATATCCCTTTTTCTGTAG	0.418																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1642-1644)ccT>ccC		nuclear factor, erythroid 2-like 3							125.0	114.0	118.0					7																	26224962		2203	4300	6503	SO:0001819	synonymous_variant	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224962T>C	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1644T>C	7.37:g.26224962T>C							p.P548P	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	1903	+			548					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	ENST00000056233.3	37	c.1644T>C	CCDS5396.1																																																																																				0.418	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			4	79	0	0	0	1	0	4	79				
STAG2	10735	broad.mit.edu	37	X	123211862	123211862	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chrX:123211862T>G	ENST00000371160.1	+	27	3019	c.2729T>G	c.(2728-2730)aTa>aGa	p.I910R	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.I910R|STAG2_ENST00000371157.3_Missense_Mutation_p.I910R|STAG2_ENST00000371144.3_Missense_Mutation_p.I910R|STAG2_ENST00000371145.3_Missense_Mutation_p.I910R|STAG2_ENST00000354548.5_Missense_Mutation_p.I841R	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	910					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ACAAGGCAGATAGACAAAATT	0.313																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(2728-2730)aTa>aGa		stromal antigen 2							118.0	102.0	108.0					X																	123211862		2203	4299	6502	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123211862T>G	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2729T>G	X.37:g.123211862T>G	ENSP00000360202:p.Ile910Arg					STAG2_ENST00000218089.9_Missense_Mutation_p.I910R|STAG2_ENST00000371157.3_Missense_Mutation_p.I910R|STAG2_ENST00000371145.3_Missense_Mutation_p.I910R|STAG2_ENST00000354548.5_Missense_Mutation_p.I841R|STAG2_ENST00000371144.3_Missense_Mutation_p.I910R|STAG2_ENST00000469481.1_Intron	p.I910R			Q8N3U4	STAG2_HUMAN			27	3019	+			910					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2729T>G	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.595386	0.66219	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.35421	1.69;1.33;1.31;1.31;1.69;1.31	5.7	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	M	0.80616	2.505	0.80722	D	1	P;D	0.60575	0.942;0.988	P;P	0.60345	0.726;0.873	T	0.56613	-0.7950	10	0.41790	T	0.15	1.0791	11.9485	0.52942	0.0:0.0:0.1433:0.8567	.	910;910	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	R	910;841;910;910;910;910	ENSP00000218089:I910R;ENSP00000346555:I841R;ENSP00000360202:I910R;ENSP00000360199:I910R;ENSP00000360187:I910R;ENSP00000360186:I910R	ENSP00000218089:I910R	I	+	2	0	STAG2	123039543	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.114000	0.71560	0.755000	0.32990	0.412000	0.27726	ATA		0.313	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		38	96	0	0	0	1	0	38	96				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.3_ENST00000575173.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			3	87	0	0	0	1	0	3	87				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		69	90	0	0	0	1	0	69	90				
WHSC1L1	54904	broad.mit.edu	37	8	38187086	38187086	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr8:38187086G>A	ENST00000317025.8	-	6	1908	c.1391C>T	c.(1390-1392)cCg>cTg	p.P464L	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P464L|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P464L|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.P464L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	464					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTTAACAGGCGGTGGCTCTTC	0.517			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1390-1392)cCg>cTg		Wolf-Hirschhorn syndrome candidate 1-like 1							99.0	96.0	97.0					8																	38187086		2203	4300	6503	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38187086G>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1391C>T	8.37:g.38187086G>A	ENSP00000313983:p.Pro464Leu					WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P464L|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P464L|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.P464L	p.P464L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		6	1908	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	464					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.1391C>T	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814959	0.90790	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985	D;D;D;T	0.96522	-4.04;-4.0;-3.99;-0.85	5.41	5.41	0.78517	.	0.000000	0.48286	U	0.000195	D	0.97458	0.9168	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;0.998	D	0.98052	1.0388	10	0.62326	D	0.03	.	19.2087	0.93746	0.0:0.0:1.0:0.0	.	464;464;464;464	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	L	464;464;401;464;464	ENSP00000393284:P464L;ENSP00000313983:P464L;ENSP00000434730:P464L;ENSP00000313410:P464L	ENSP00000313410:P464L	P	-	2	0	WHSC1L1	38306243	1.000000	0.71417	0.953000	0.39169	0.961000	0.63080	8.640000	0.91028	2.532000	0.85374	0.650000	0.86243	CCG		0.517	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		34	45	0	0	0	1	0	34	45				
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr18:14513734C>T	ENST00000358970.5	-	10	1459	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	487								p.G487E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323																																						ENST00000358970.5																			2	Substitution - Missense(2)	p.G487E(2)	lung(1)|endometrium(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1459-1461)gGa>gAa		POTE ankyrin domain family, member C							15.0	16.0	16.0					18																	14513734		681	1554	2235	SO:0001583	missense	388468							g.chr18:14513734C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1460G>A	18.37:g.14513734C>T	ENSP00000351856:p.Gly487Glu						p.G487E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1459	-			487						Missense_Mutation	SNP	ENST00000358970.5	37	c.1460G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.006144	0.00426	.	.	ENSG00000183206	ENST00000358970	T	0.27104	1.69	1.38	1.38	0.22167	.	.	.	.	.	T	0.18551	0.0445	L	0.44542	1.39	0.09310	N	1	P	0.50443	0.935	B	0.39094	0.29	T	0.16247	-1.0409	9	0.66056	D	0.02	.	6.1352	0.20227	0.0:1.0:0.0:0.0	.	487	B2RU33	POTEC_HUMAN	E	487	ENSP00000351856:G487E	ENSP00000351856:G487E	G	-	2	0	POTEC	14503734	0.983000	0.35010	0.019000	0.16419	0.011000	0.07611	2.828000	0.48120	1.049000	0.40321	0.205000	0.17691	GGA		0.323	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	70	0	0	0	1	0	4	70				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		6	65	0	0	0	1	0	6	65				
IDNK	414328	broad.mit.edu	37	9	86258573	86258573	+	Silent	SNP	T	T	C	rs138577393		TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr9:86258573T>C	ENST00000376419.4	+	5	446	c.442T>C	c.(442-444)Ttg>Ctg	p.L148L	IDNK_ENST00000405990.3_3'UTR|IDNK_ENST00000277124.8_Silent_p.L102L|IDNK_ENST00000376417.4_3'UTR|IDNK_ENST00000454393.1_Silent_p.L191L	NM_001001551.3	NP_001001551.2	Q5T6J7	GNTK_HUMAN	idnK, gluconokinase homolog (E. coli)	148					D-gluconate catabolic process (GO:0046177)		ATP binding (GO:0005524)|gluconokinase activity (GO:0046316)										CCCTGAATTATTGCAGTCCCA	0.463																																						ENST00000277124.8																			0											c.(304-306)Ttg>Ctg		idnK, gluconokinase homolog (E. coli)		T	,	0,4406		0,0,2203	79.0	84.0	82.0		442,	-6.1	0.5	9	dbSNP_134	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,utr-3	C9orf103	NM_001001551.2,NM_001190727.1	,	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	,	148/188,	86258573	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	414328				carbohydrate metabolic process	cytoplasm	ATP binding|gluconokinase activity|shikimate kinase activity	g.chr9:86258573T>C	BC036421	CCDS35048.1, CCDS35048.2, CCDS59134.1	9q21.32	2012-03-30	2012-03-30	2012-03-30	ENSG00000148057	ENSG00000148057			31367	protein-coding gene	gene with protein product		611343	"""chromosome 9 open reading frame 103"""	C9orf103			Standard	NM_001001551		Approved	bA522I20.2	uc004amu.3	Q5T6J7	OTTHUMG00000020105	ENST00000376419.4:c.442T>C	9.37:g.86258573T>C						IDNK_ENST00000405990.3_3'UTR|IDNK_ENST00000376417.4_3'UTR|IDNK_ENST00000454393.1_Silent_p.L191L|IDNK_ENST00000376419.4_Silent_p.L148L	p.L102L	NM_001256915.1	NP_001243844.1	Q5T6J7	GNTK_HUMAN			6	1149	+			148					A5PLN6|Q5T6J6	Silent	SNP	ENST00000376419.4	37	c.304T>C	CCDS35048.2																																																																																				0.463	IDNK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052837.2	NM_001001551		4	104	0	0	0	1	0	4	104				
ZPR1	8882	broad.mit.edu	37	11	116656238	116656238	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr11:116656238C>A	ENST00000227322.3	-	6	756	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		233					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		ACTTGAAGCCCCAGCATCTCT	0.502																																						ENST00000227322.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(697-699)Ggg>Tgg		zinc finger protein 259							127.0	111.0	117.0					11																	116656238		2201	4296	6497	SO:0001583	missense	8882				cell proliferation|signal transduction	cytoplasm|nucleolus		g.chr11:116656238C>A																												ENST00000227322.3:c.697G>T	11.37:g.116656238C>A	ENSP00000227322:p.Gly233Trp						p.G233W	NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)	6	756	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	233					Q2TAA0	Missense_Mutation	SNP	ENST00000227322.3	37	c.697G>T	CCDS8375.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.19|18.19|18.19	3.567953|3.567953|3.567953	0.65651|0.65651|0.65651	.|.|.	.|.|.	ENSG00000109917|ENSG00000109917|ENSG00000109917	ENST00000429220|ENST00000227322|ENST00000444935	.|T|.	.|0.62639|.	.|0.01|.	5.65|5.65|5.65	5.65|5.65|5.65	0.86999|0.86999|0.86999	.|Zinc finger, ZPR1-type (1);|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	D|D|D	0.86422|0.86422|0.86422	0.5929|0.5929|0.5929	M|M|M	0.91561|0.91561|0.91561	3.22|3.22|3.22	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D|.	.|0.89917|.	.|1.0;1.0|.	.|D;D|.	.|0.91635|.	.|0.998;0.999|.	D|D|D	0.88515|0.88515|0.88515	0.3092|0.3092|0.3092	6|10|5	.|0.87932|.	.|D|.	.|0|.	-25.5273|-25.5273|-25.5273	19.7221|19.7221|19.7221	0.96147|0.96147|0.96147	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|182;233|.	.|B4DVT8;O75312|.	.|.;ZPR1_HUMAN|.	V|W|C	175|233|232	.|ENSP00000227322:G233W|.	.|ENSP00000227322:G233W|.	G|G|W	-|-|-	2|1|3	0|0|0	ZNF259|ZNF259|ZNF259	116161448|116161448|116161448	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.081000|0.081000|0.081000	0.17604|0.17604|0.17604	7.216000|7.216000|7.216000	0.77974|0.77974|0.77974	2.679000|2.679000|2.679000	0.91253|0.91253|0.91253	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGG|GGG|TGG		0.502	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			4	122	1	0	0.014758	1	0.0161308	4	122				
OR6V1	346517	broad.mit.edu	37	7	142750057	142750057	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr7:142750057G>C	ENST00000418316.1	+	1	641	c.620G>C	c.(619-621)aGc>aCc	p.S207T		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTTGTCCTCAGCTCCTTCCTG	0.542																																						ENST00000418316.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(619-621)aGc>aCc		olfactory receptor, family 6, subfamily V, member 1							173.0	177.0	176.0					7																	142750057		2065	4223	6288	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142750057G>C		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.620G>C	7.37:g.142750057G>C	ENSP00000396085:p.Ser207Thr						p.S207T	NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN			1	641	+	Melanoma(164;0.059)		207					A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.620G>C	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	G	4.871	0.161832	0.09287	.	.	ENSG00000225781	ENST00000418316	T	0.37058	1.22	4.48	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.20780	0.0500	N	0.11756	0.17	0.20074	N	0.999931	P	0.37207	0.587	B	0.35039	0.194	T	0.07385	-1.0775	9	0.25106	T	0.35	.	12.4012	0.55414	0.0:0.171:0.829:0.0	.	207	Q8N148	OR6V1_HUMAN	T	207	ENSP00000396085:S207T	ENSP00000396085:S207T	S	+	2	0	OR6V1	142460179	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	0.148000	0.16224	1.129000	0.42072	-0.121000	0.15023	AGC		0.542	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			4	203	0	0	0	1	0	4	203				
FLVCR2	55640	broad.mit.edu	37	14	76101253	76101253	+	Splice_Site	SNP	G	G	C			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr14:76101253G>C	ENST00000238667.4	+	5	1377	c.1021G>C	c.(1021-1023)Ggg>Cgg	p.G341R	FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000553587.1_Splice_Site_p.G89R|FLVCR2_ENST00000539311.1_Splice_Site_p.G136R|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000555027.1_Splice_Site_p.G56R	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	341					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTTTCCCCAGGGGGAAGAAGT	0.527																																						ENST00000238667.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.e5-1		feline leukemia virus subgroup C cellular receptor family, member 2							98.0	82.0	87.0					14																	76101253		2203	4300	6503	SO:0001630	splice_region_variant	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76101253G>C	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1021-1G>C	14.37:g.76101253G>C						FLVCR2_ENST00000539311.1_Splice_Site_p.G136_splice|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000553587.1_Splice_Site_p.G89_splice|FLVCR2_ENST00000555027.1_Splice_Site_p.G56_splice	p.G341_splice	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	5	1377	+			341					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Splice_Site	SNP	ENST00000238667.4	37	c.1020_splice	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855385	0.91355	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000553341;ENST00000553587;ENST00000554580;ENST00000555027	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	5.57	5.57	0.84162	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.152263	0.64402	D	0.000013	T	0.79511	0.4458	M	0.90595	3.13	0.80722	D	1	P;P	0.44816	0.844;0.844	P;P	0.58780	0.845;0.781	T	0.81879	-0.0730	9	.	.	.	-4.5366	18.3372	0.90293	0.0:0.0:1.0:0.0	.	136;341	B7Z485;Q9UPI3	.;FLVC2_HUMAN	R	341;136;42;89;41;56	ENSP00000238667:G341R;ENSP00000443439:G136R;ENSP00000452584:G42R;ENSP00000451603:G89R;ENSP00000451781:G41R;ENSP00000452453:G56R	.	G	+	1	0	AC007182.1	75171006	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.257000	0.78362	2.630000	0.89119	0.591000	0.81541	GGG		0.527	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791	Missense_Mutation	3	25	0	0	0	1	0	3	25				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	82	0	0	0	1	0	5	82				
ZFX	7543	broad.mit.edu	37	X	24228800	24228800	+	Silent	SNP	G	G	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chrX:24228800G>A	ENST00000379177.1	+	11	2152	c.1725G>A	c.(1723-1725)ccG>ccA	p.P575P	ZFX_ENST00000338565.3_Silent_p.P525P|ZFX_ENST00000379188.3_Silent_p.P575P|ZFX_ENST00000539115.1_Silent_p.P346P|ZFX_ENST00000304543.5_Silent_p.P575P|ZFX_ENST00000540034.1_Silent_p.P614P	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	575					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GGGAGAAGCCGTACCAATGCC	0.438																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(1723-1725)ccG>ccA		zinc finger protein, X-linked							97.0	88.0	91.0					X																	24228800		2203	4300	6503	SO:0001819	synonymous_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24228800G>A		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.1725G>A	X.37:g.24228800G>A						ZFX_ENST00000338565.3_Silent_p.P525P|ZFX_ENST00000539115.1_Silent_p.P346P|ZFX_ENST00000379188.3_Silent_p.P575P|ZFX_ENST00000540034.1_Silent_p.P614P|ZFX_ENST00000304543.5_Silent_p.P575P	p.P575P	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			11	2152	+			575					B9EG97|O43668|Q8WYJ8	Silent	SNP	ENST00000379177.1	37	c.1725G>A	CCDS14211.1																																																																																				0.438	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		3	101	0	0	0	1	0	3	101				
UNC80	285175	broad.mit.edu	37	2	210658442	210658442	+	Splice_Site	SNP	A	A	G			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr2:210658442A>G	ENST00000439458.1	+	7	878		c.e7-1		UNC80_ENST00000478701.1_Splice_Site|UNC80_ENST00000272845.6_Splice_Site	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TGCCTCCAAAAGGGACTCCAG	0.428																																						ENST00000439458.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						c.e7-1		unc-80 homolog (C. elegans)							92.0	89.0	90.0					2																	210658442		2203	4300	6503	SO:0001630	splice_region_variant	285175					integral to membrane		g.chr2:210658442A>G	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.799-1A>G	2.37:g.210658442A>G						UNC80_ENST00000478701.1_Splice_Site|UNC80_ENST00000272845.5_Splice_Site		NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN			7	878	+								B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Splice_Site	SNP	ENST00000439458.1	37		CCDS46504.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.814333	0.70912	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6242	0.68608	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNC80	210366687	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.939000	0.87685	2.149000	0.67028	0.533000	0.62120	.		0.428	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587	Intron	3	63	0	0	0	1	0	3	63				
TSR1	55720	broad.mit.edu	37	17	2238870	2238870	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr17:2238870G>C	ENST00000301364.5	-	3	1435	c.356C>G	c.(355-357)aCc>aGc	p.T119S	SGSM2_ENST00000268989.3_5'Flank|SGSM2_ENST00000426855.2_5'Flank|SGSM2_ENST00000574563.1_5'Flank|TSR1_ENST00000576112.2_Missense_Mutation_p.T119S	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	119	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						AAAGTTCTGGGTGTTTCCCAA	0.483																																						ENST00000301364.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(355-357)aCc>aGc		TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)							78.0	71.0	74.0					17																	2238870		2203	4300	6503	SO:0001583	missense	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2238870G>C	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.356C>G	17.37:g.2238870G>C	ENSP00000301364:p.Thr119Ser						p.T119S	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN			3	1435	-			119					Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	c.356C>G	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	G	0.837	-0.743130	0.03088	.	.	ENSG00000167721	ENST00000301364	T	0.46451	0.87	5.71	0.203	0.15195	.	0.610732	0.19613	N	0.110098	T	0.15782	0.0380	N	0.04669	-0.19	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29731	-1.0002	10	0.08599	T	0.76	-4.5815	8.4197	0.32692	0.1164:0.3699:0.5137:0.0	.	119	Q2NL82	TSR1_HUMAN	S	119	ENSP00000301364:T119S	ENSP00000301364:T119S	T	-	2	0	TSR1	2185620	0.003000	0.15002	0.037000	0.18230	0.008000	0.06430	0.622000	0.24433	0.331000	0.23511	-0.304000	0.09214	ACC		0.483	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		3	115	0	0	0	1	0	3	115				
MAGI1	9223	broad.mit.edu	37	3	65365210	65365210	+	Silent	SNP	C	C	T			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr3:65365210C>T	ENST00000497477.2	-	17	2720	c.2721G>A	c.(2719-2721)gaG>gaA	p.E907E	MAGI1_ENST00000483466.1_Silent_p.E935E|MAGI1_ENST00000330909.8_Silent_p.E935E|MAGI1_ENST00000402939.2_Silent_p.E907E			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	935					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCGAGGGCACCTCGTTCTCGG	0.622																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2803-2805)gaG>gaA		membrane associated guanylate kinase, WW and PDZ domain containing 1							110.0	116.0	114.0					3																	65365210		2203	4300	6503	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65365210C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2721G>A	3.37:g.65365210C>T						MAGI1_ENST00000402939.2_Silent_p.E907E|MAGI1_ENST00000483466.1_Silent_p.E935E|MAGI1_ENST00000497477.2_Silent_p.E907E	p.E935E	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	18	2804	-		Lung NSC(201;0.0016)	935					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.2805G>A		.	.	.	.	.	.	.	.	.	.	C	7.423	0.637063	0.14386	.	.	ENSG00000151276	ENST00000460329	.	.	.	5.24	4.36	0.52297	.	.	.	.	.	T	0.55847	0.1946	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53019	-0.8497	4	.	.	.	-24.1512	6.3218	0.21223	0.0:0.677:0.0:0.323	.	.	.	.	K	816	.	.	R	-	2	0	MAGI1	65340250	0.998000	0.40836	1.000000	0.80357	0.832000	0.47134	0.426000	0.21363	1.193000	0.43086	0.591000	0.81541	AGG		0.622	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		79	141	0	0	0	1	0	79	141				
NANOS2	339345	broad.mit.edu	37	19	46417736	46417736	+	Silent	SNP	G	G	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr19:46417736G>A	ENST00000341294.2	-	1	300	c.216C>T	c.(214-216)tcC>tcT	p.S72S		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	72					germ-line stem cell maintenance (GO:0030718)|mRNA catabolic process (GO:0006402)|multicellular organismal development (GO:0007275)|negative regulation of meiosis (GO:0045835)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	mRNA binding (GO:0003729)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		AGACGTGGCGGGACTCCCCGT	0.692																																						ENST00000341294.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6						c.(214-216)tcC>tcT		nanos homolog 2 (Drosophila)							69.0	63.0	65.0					19																	46417736		2203	4300	6503	SO:0001819	synonymous_variant	339345				germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding	g.chr19:46417736G>A	BC042883	CCDS33056.1	19q13.32	2003-12-01				ENSG00000188425			23292	protein-coding gene	gene with protein product		608228				12947200, 12690449	Standard	NM_001029861		Approved	NOS2	uc002pdu.3	P60321		ENST00000341294.2:c.216C>T	19.37:g.46417736G>A							p.S72S	NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)	1	300	-		Ovarian(192;0.0308)|all_neural(266;0.0476)	72					Q17R30|Q4G0P8	Silent	SNP	ENST00000341294.2	37	c.216C>T	CCDS33056.1																																																																																				0.692	NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461685.1			3	82	0	0	0	1	0	3	82				
MGLL	11343	broad.mit.edu	37	3	127454586	127454586	+	Intron	SNP	G	G	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr3:127454586G>A	ENST00000434178.2	-	4	1129				MGLL_ENST00000265052.5_Intron|MGLL_ENST00000398101.3_Missense_Mutation_p.A39V|MGLL_ENST00000398104.1_Intron|MGLL_ENST00000453507.2_Intron			Q99685	MGLL_HUMAN	monoglyceride lipase						acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						CTCGCTCCCCGCCTTCTCCCA	0.488																																						ENST00000398101.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(115-117)gCg>gTg		monoglyceride lipase							182.0	176.0	178.0					3																	127454586		876	1991	2867	SO:0001627	intron_variant	11343				arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity	g.chr3:127454586G>A	BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.233-13177C>T	3.37:g.127454586G>A						MGLL_ENST00000265052.5_Intron|MGLL_ENST00000453507.2_Intron|MGLL_ENST00000434178.2_Intron|MGLL_ENST00000398104.1_Intron	p.A39V			Q99685	MGLL_HUMAN			1	614	-			0					B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Missense_Mutation	SNP	ENST00000434178.2	37	c.116C>T	CCDS43148.1	.	.	.	.	.	.	.	.	.	.	g	0.007	-1.984842	0.00443	.	.	ENSG00000074416	ENST00000398101	.	.	.	2.61	-5.22	0.02806	.	.	.	.	.	T	0.24774	0.0601	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16041	-1.0416	7	0.72032	D	0.01	.	0.7596	0.01004	0.3418:0.1477:0.1168:0.3937	.	39	E7EWX8	.	V	39	.	ENSP00000381173:A39V	A	-	2	0	MGLL	128937276	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.598000	0.00894	-3.028000	0.00267	-2.629000	0.00154	GCG		0.488	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	NM_007283		4	172	0	0	0	1	0	4	172				
MYO18B	84700	broad.mit.edu	37	22	26219630	26219630	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr22:26219630G>A	ENST00000407587.2	+	13	2849	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K	MYO18B_ENST00000536101.1_Missense_Mutation_p.E894K|MYO18B_ENST00000335473.7_Missense_Mutation_p.E894K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	894	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTCGAGGATGAGGAAACCAG	0.562																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(2680-2682)Gag>Aag		myosin XVIIIB							165.0	158.0	161.0					22																	26219630		2036	4182	6218	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26219630G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2680G>A	22.37:g.26219630G>A	ENSP00000386096:p.Glu894Lys					MYO18B_ENST00000407587.2_Missense_Mutation_p.E894K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E894K	p.E894K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			13	2930	+			894			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.2680G>A		.	.	.	.	.	.	.	.	.	.	G	10.45	1.353080	0.24512	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.89123	-2.47;-2.47;-2.47	4.31	0.53	0.17102	Myosin head, motor domain (2);	1.161200	0.06593	N	0.752423	D	0.84561	0.5499	L	0.54323	1.7	0.26882	N	0.967518	P;P;P;P	0.40534	0.525;0.72;0.617;0.673	B;B;B;B	0.37387	0.115;0.248;0.173;0.16	T	0.72181	-0.4368	10	0.31617	T	0.26	.	7.6214	0.28187	0.096:0.3139:0.5901:0.0	.	407;894;894;894	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	K	894	ENSP00000441229:E894K;ENSP00000334563:E894K;ENSP00000386096:E894K	ENSP00000334563:E894K	E	+	1	0	MYO18B	24549630	1.000000	0.71417	0.186000	0.23195	0.077000	0.17291	3.548000	0.53670	0.447000	0.26695	0.448000	0.29417	GAG		0.562	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	135	0	0	0	1	0	4	135				
MYH6	4624	broad.mit.edu	37	14	23858160	23858160	+	Silent	SNP	G	G	A	rs568275249		TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr14:23858160G>A	ENST00000356287.3	-	28	4112	c.4083C>T	c.(4081-4083)cgC>cgT	p.R1361R	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Silent_p.R1361R			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1361					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.R1361R(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGACAGGACGCGCTGCAGCT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16451	0.0		0.0	False		,,,				2504	0.001					ENST00000405093.3																			1	Substitution - coding silent(1)	p.R1361R(1)	upper_aerodigestive_tract(1)	breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(4081-4083)cgC>cgT		myosin, heavy chain 6, cardiac muscle, alpha							71.0	63.0	66.0					14																	23858160		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23858160G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4083C>T	14.37:g.23858160G>A						MYH6_ENST00000356287.3_Silent_p.R1361R	p.R1361R	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	29	4153	-	all_cancers(95;2.54e-05)		1361					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.4083C>T	CCDS9600.1																																																																																				0.647	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			4	88	0	0	0	1	0	4	88				
CEP170B	283638	broad.mit.edu	37	14	105353277	105353277	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr14:105353277G>A	ENST00000414716.3	+	12	2929	c.2701G>A	c.(2701-2703)Gca>Aca	p.A901T	CEP170B_ENST00000453495.1_Missense_Mutation_p.A902T|CEP170B_ENST00000556508.1_Missense_Mutation_p.A831T|CEP170B_ENST00000418279.1_Missense_Mutation_p.A831T	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	901						cytoplasm (GO:0005737)|microtubule (GO:0005874)											TACCCGGGCCGCACGCATGGA	0.662																																						ENST00000453495.1																			0											c.(2704-2706)Gca>Aca		centrosomal protein 170B							24.0	33.0	30.0					14																	105353277		1985	4139	6124	SO:0001583	missense	283638							g.chr14:105353277G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2701G>A	14.37:g.105353277G>A	ENSP00000404151:p.Ala901Thr					CEP170B_ENST00000556508.1_Missense_Mutation_p.A831T|CEP170B_ENST00000418279.1_Missense_Mutation_p.A831T|CEP170B_ENST00000414716.3_Missense_Mutation_p.A901T	p.A902T							12	2932	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.2704G>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	5.089	0.202026	0.09652	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.48	-7.53	0.01336	.	1.713730	0.03138	N	0.166219	T	0.18841	0.0452	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19445	0.016;0.036;0.024	B;B;B	0.14578	0.011;0.007;0.008	T	0.13150	-1.0520	10	0.12430	T	0.62	-1.4908	1.2183	0.01918	0.3767:0.0982:0.3191:0.206	.	901;901;831	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	T	831;901;902;831	ENSP00000451249:A831T;ENSP00000404151:A901T;ENSP00000407238:A902T;ENSP00000415006:A831T	ENSP00000404151:A901T	A	+	1	0	KIAA0284	104424322	0.000000	0.05858	0.099000	0.21106	0.475000	0.33008	-0.317000	0.08060	-0.683000	0.05190	0.491000	0.48974	GCA		0.662	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		3	65	0	0	0	1	0	3	65				
SBF2	81846	broad.mit.edu	37	11	10064433	10064433	+	Silent	SNP	G	G	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr11:10064433G>A	ENST00000256190.8	-	3	374	c.237C>T	c.(235-237)taC>taT	p.Y79Y	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	79	UDENN.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGCATGAGCAGTAATGTCGAT	0.443																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(235-237)taC>taT		SET binding factor 2							148.0	123.0	131.0					11																	10064433		2201	4294	6495	SO:0001819	synonymous_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10064433G>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.237C>T	11.37:g.10064433G>A						SBF2_ENST00000527019.1_5'UTR	p.Y79Y	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	3	374	-			79			UDENN.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	ENST00000256190.8	37	c.237C>T	CCDS31427.1																																																																																				0.443	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		3	138	0	0	0	1	0	3	138				
NRXN2	9379	broad.mit.edu	37	11	64457918	64457918	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr11:64457918G>C	ENST00000377551.1	-	4	1020	c.809C>G	c.(808-810)gCc>gGc	p.A270G	NRXN2_ENST00000265459.6_Missense_Mutation_p.A270G|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000409571.1_Missense_Mutation_p.A270G			Q9P2S2	NRX2A_HUMAN	neurexin 2	270					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.A270fs*27(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCCTCTCCCGGCCCCCCCCTC	0.632																																						ENST00000265459.6																			1	Insertion - Frameshift(1)	p.A270fs*27(1)	central_nervous_system(1)	breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(808-810)gCc>gGc		neurexin 2							37.0	37.0	37.0					11																	64457918		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64457918G>C		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.809C>G	11.37:g.64457918G>C	ENSP00000366774:p.Ala270Gly					NRXN2_ENST00000409571.1_Missense_Mutation_p.A270G|NRXN2_ENST00000377551.1_Missense_Mutation_p.A270G|NRXN2_ENST00000377559.3_Intron	p.A270G	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			5	1270	-			270					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.809C>G	CCDS8077.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.18|15.18	2.758179|2.758179	0.49468|0.49468	.|.	.|.	ENSG00000110076|ENSG00000110076	ENST00000377551;ENST00000265459;ENST00000409571;ENST00000442300|ENST00000417749	T;T;T;T|.	0.61392|.	0.11;0.11;0.19;1.26|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|.	.|.	.|.	.|.	T|T	0.36936|0.36936	0.0985|0.0985	N|N	0.08118|0.08118	0|0	0.36735|0.36735	D|D	0.88194|0.88194	B|.	0.15141|.	0.012|.	B|.	0.15484|.	0.013|.	T|T	0.41805|0.41805	-0.9488|-0.9488	9|5	0.48119|.	T|.	0.1|.	.|.	13.2396|13.2396	0.59989|0.59989	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	270|.	Q9P2S2|.	NRX2A_HUMAN|.	G|A	270;270;270;41|31	ENSP00000366774:A270G;ENSP00000265459:A270G;ENSP00000386416:A270G;ENSP00000388971:A41G|.	ENSP00000265459:A270G|.	A|P	-|-	2|1	0|0	NRXN2|NRXN2	64214494|64214494	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.739000|4.739000	0.62080|0.62080	2.288000|2.288000	0.76882|0.76882	0.442000|0.442000	0.29010|0.29010	GCC|CCG		0.632	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		3	26	0	0	0	1	0	3	26				
LINC01098	285501	broad.mit.edu	37	4	178897099	178897099	+	Splice_Site	SNP	T	T	C			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr4:178897099T>C	ENST00000507870.1	+	5	762		c.e5+2																		lung(8)|prostate(1)	9						AAATGCCAGGTGAGTATGCAA	0.368																																						ENST00000507870.1																			0				lung(8)|prostate(1)	9						c.e5+2									209.0	208.0	208.0					4																	178897099		1858	4094	5952	SO:0001630	splice_region_variant	0							g.chr4:178897099T>C																												ENST00000507870.1:c.300+2T>C	4.37:g.178897099T>C														5	762	+									Splice_Site	SNP	ENST00000507870.1	37			.	.	.	.	.	.	.	.	.	.	T	4.568	0.105468	0.08780	.	.	ENSG00000231171	ENST00000507870	.	.	.	3.67	-2.49	0.06403	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5381	0.12043	0.3175:0.0:0.3303:0.3521	.	.	.	.	.	-1	.	.	.	+	.	.	RP11-389E17.1	179134093	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.069000	0.14552	-0.386000	0.07821	0.528000	0.53228	.		0.368	RP11-389E17.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000361922.1		Intron	8	152	0	0	0	1	0	8	152				
NIPBL	25836	broad.mit.edu	37	5	37001181	37001181	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr5:37001181G>A	ENST00000282516.8	+	14	4163		c.e14+1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACTGCGTTTGGTAAAATCAAC	0.333																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.e14+1		Nipped-B homolog (Drosophila)							61.0	66.0	65.0					5																	37001181		2202	4293	6495	SO:0001630	splice_region_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37001181G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3664+1G>A	5.37:g.37001181G>A						NIPBL_ENST00000448238.2_Splice_Site		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		14	4163	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)							Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Splice_Site	SNP	ENST00000282516.8	37		CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234926	0.79800	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7272	0.96168	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIPBL	37036938	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.063000	0.93927	2.646000	0.89796	0.655000	0.94253	.		0.333	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	Intron	33	45	0	0	0	1	0	33	45				
HSPA2	3306	broad.mit.edu	37	14	65008100	65008100	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr14:65008100C>A	ENST00000394709.1	+	2	609	c.533C>A	c.(532-534)aCg>aAg	p.T178K	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Missense_Mutation_p.T178K|HSPA2_ENST00000554883.1_3'UTR			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	178					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		AACGAGCCCACGGCGGCGGCC	0.642																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(532-534)aCg>aAg		heat shock 70kDa protein 2							55.0	60.0	58.0					14																	65008100		2203	4299	6502	SO:0001583	missense	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008100C>A	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.533C>A	14.37:g.65008100C>A	ENSP00000378199:p.Thr178Lys					HSPA2_ENST00000394709.1_Missense_Mutation_p.T178K|HSPA2_ENST00000554883.1_3'UTR	p.T178K	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	915	+			178					Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	c.533C>A	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924766	0.73213	.	.	ENSG00000126803	ENST00000394709;ENST00000247207	T;T	0.01787	4.64;4.64	5.18	5.18	0.71444	.	0.000000	0.56097	U	0.000031	T	0.29028	0.0721	H	0.99970	5.12	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.66536	-0.5899	10	0.87932	D	0	-6.572	18.6851	0.91560	0.0:1.0:0.0:0.0	.	178	P54652	HSP72_HUMAN	K	178	ENSP00000378199:T178K;ENSP00000247207:T178K	ENSP00000247207:T178K	T	+	2	0	HSPA2	64077853	1.000000	0.71417	0.987000	0.45799	0.949000	0.60115	7.818000	0.86416	2.407000	0.81776	0.563000	0.77884	ACG		0.642	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			3	84	1	0	0.115264	1	0.123123	3	84				
KDM2B	84678	broad.mit.edu	37	12	121877692	121877692	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr12:121877692G>T	ENST00000377071.4	-	22	3869	c.3797C>A	c.(3796-3798)aCc>aAc	p.T1266N	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.T634N|KDM2B_ENST00000377069.4_Missense_Mutation_p.T1197N	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1266					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGAGTCTCGGGTGGTGGTGCC	0.572																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(3589-3591)aCc>aAc		lysine (K)-specific demethylase 2B							109.0	127.0	121.0					12																	121877692		2157	4248	6405	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121877692G>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3797C>A	12.37:g.121877692G>T	ENSP00000366271:p.Thr1266Asn					KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.T1266N|KDM2B_ENST00000542973.1_Missense_Mutation_p.T634N	p.T1197N	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			21	3996	-			1266					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.3590C>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	34	5.367115	0.95900	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.54675	0.56;0.56;0.56	5.82	5.82	0.92795	.	0.000000	0.53938	D	0.000045	T	0.69886	0.3161	L	0.51422	1.61	0.80722	D	1	D;D;D;P	0.76494	0.987;0.999;0.999;0.659	P;D;D;P	0.80764	0.671;0.994;0.994;0.539	T	0.70378	-0.4888	10	0.87932	D	0	-30.1826	20.1054	0.97890	0.0:0.0:1.0:0.0	.	706;1266;1197;709	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	N	1256;634;1197;1266;709;1269	ENSP00000437821:T634N;ENSP00000366269:T1197N;ENSP00000366271:T1266N	ENSP00000261824:T1269N	T	-	2	0	KDM2B	120362075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.881000	0.87252	2.757000	0.94681	0.655000	0.94253	ACC		0.572	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		15	50	1	0	2.89027e-11	1	3.23435e-11	15	50				
FCN2	2220	broad.mit.edu	37	9	137779025	137779025	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr9:137779025A>G	ENST00000291744.6	+	8	716	c.706A>G	c.(706-708)Acg>Gcg	p.T236A	FCN2_ENST00000350339.2_Missense_Mutation_p.T198A	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	236	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		T -> M (in dbSNP:rs17549193).		complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AGATTCCCTGACGTTCCACAA	0.468																																						ENST00000350339.2																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20						c.(592-594)Acg>Gcg		ficolin (collagen/fibrinogen domain containing lectin) 2							161.0	141.0	147.0					9																	137779025		2203	4300	6503	SO:0001583	missense	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137779025A>G	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.706A>G	9.37:g.137779025A>G	ENSP00000291744:p.Thr236Ala					FCN2_ENST00000291744.6_Missense_Mutation_p.T236A	p.T198A	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	7	606	+		Myeloproliferative disorder(178;0.0333)	236			Fibrinogen C-terminal.		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	c.592A>G	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	A	9.522	1.108482	0.20714	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.77620	-1.11;-1.11	4.05	0.128	0.14733	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.557101	0.14767	N	0.299635	T	0.63283	0.2498	L	0.45422	1.42	0.33603	D	0.602629	B;B	0.09022	0.002;0.001	B;B	0.08055	0.002;0.003	T	0.56269	-0.8007	10	0.42905	T	0.14	.	2.4346	0.04479	0.4298:0.0:0.2136:0.3566	.	198;236	Q15485-2;Q15485	.;FCN2_HUMAN	A	198;236	ENSP00000291741:T198A;ENSP00000291744:T236A	ENSP00000291744:T236A	T	+	1	0	FCN2	136918846	0.042000	0.20092	0.034000	0.17996	0.055000	0.15305	0.625000	0.24477	-0.006000	0.14370	0.460000	0.39030	ACG		0.468	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		8	113	0	0	0	1	0	8	113				
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr1:85736511delT	ENST00000370580.1	-	2	873	c.136delA	c.(136-138)atafs	p.I46fs		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	46	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.I46fs*4(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTACTGAGTATTTTTTTTGCA	0.343			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	ENST00000370580.1				Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT		1	Insertion - Frameshift(1)	p.I46fs*4(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19						c.(136-138)tafs		B-cell CLL/lymphoma 10							83.0	90.0	87.0					1																	85736511		2203	4300	6503	SO:0001589	frameshift_variant	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85736511delT	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.136delA	1.37:g.85736511delT	ENSP00000359612:p.Ile46fs						p.I46fs	NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	2	873	-			46			CARD.		Q5VUF1	Frame_Shift_Del	DEL	ENST00000370580.1	37	c.136delA	CCDS704.1																																																																																				0.343	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		7	110						7	110	---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114968116	114968118	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr1:114968116_114968118delTGT	ENST00000358465.2	-	9	1731_1733	c.1648_1650delACA	c.(1648-1650)acadel	p.T550del	TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del|TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	550	Poly-Thr.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGCTGTTGTGTTGTTGTTGTT	0.429			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1648-1650)del		tripartite motif containing 33																																				SO:0001651	inframe_deletion	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968116_114968118delTGT	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1648_1650delACA	1.37:g.114968125_114968127delTGT	ENSP00000351250:p.Thr550del					TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del	p.T550del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1731_1733	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	550			Poly-Thr.		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	In_Frame_Del	DEL	ENST00000358465.2	37	c.1648_1650delACA	CCDS872.1																																																																																				0.429	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		7	366						7	366	---	---	---	---
WNT6	7475	broad.mit.edu	37	2	219724790	219724792	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr2:219724790_219724792delGCT	ENST00000233948.3	+	1	247_249	c.30_32delGCT	c.(28-33)gggctg>ggg	p.L17del	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	17					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.L17delL(1)		large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGCCTCGGGCTGCTGCTGCTG	0.773																																						ENST00000233948.3																			1	Deletion - In frame(1)	p.L17delL(1)	central_nervous_system(1)	large_intestine(1)|ovary(2)|skin(1)	4						c.(28-33)ggg>gg		wingless-type MMTV integration site family, member 6				68,3608		1,66,1771						1.6	0.4			5	195,7107		11,173,3467	no	coding	WNT6	NM_006522.3		12,239,5238	A1A1,A1R,RR		2.6705,1.8498,2.3957				263,10715				SO:0001651	inframe_deletion	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219724790_219724792delGCT	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.30_32delGCT	2.37:g.219724799_219724801delGCT	ENSP00000233948:p.Leu17del					WNT6_ENST00000486233.1_3'UTR	p.GL10del	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	247_249	+		Renal(207;0.0474)	10					Q9H1J6|Q9H238	In_Frame_Del	DEL	ENST00000233948.3	37	c.30_32delGCT	CCDS2425.1																																																																																				0.773	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		2	4						2	4	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000288139.4_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		7	190						7	190	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78790207	78790208	+	Intron	INS	-	-	GAATA	rs55947300|rs10124596|rs71372053	byFrequency	TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr9:78790207_78790208insGAATA	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Frame_Shift_Ins_p.-689fs	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						cgaatcgaatcgaatagaatag	0.342																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2062-2064)aatfs		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790207_78790208insGAATA		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+162->GAATA	9.37:g.78790213_78790217dupGAATA						PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron	p.N688fs			Q92824	PCSK5_HUMAN			14	2574_2575	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Frame_Shift_Ins	INS	ENST00000545128.1	37	c.2062_2063insGAATA	CCDS55320.1																																																																																				0.342	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	3						3	3	---	---	---	---
IGHV3-21	28444	broad.mit.edu	37	14	106691799	106691801	+	RNA	DEL	ACT	ACT	-	rs553767931|rs571911882	byFrequency	TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr14:106691799_106691801delACT	ENST00000390607.2	-	0	301_303									immunoglobulin heavy variable 3-21																		AGTATATGTAACTACTACTACTA	0.517																																						ENST00000390607.2																			0																																																			0							g.chr14:106691799_106691801delACT	Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691808_106691810delACT														0	301_303	-									RNA	DEL	ENST00000390607.2	37																																																																																						0.517	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325667.1	NG_001019		7	338						7	338	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77356311	77356311	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr16:77356311delA	ENST00000282849.5	-	14	2503	c.2085delT	c.(2083-2085)tttfs	p.F695fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	695	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A696fs*18(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CGGACATTGCAAAAAAAAATT	0.403																																						ENST00000282849.5																			2	Insertion - Frameshift(2)	p.A696fs*18(2)	large_intestine(2)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2083-2085)ttfs		ADAM metallopeptidase with thrombospondin type 1 motif, 18							145.0	143.0	143.0					16																	77356311		2198	4300	6498	SO:0001589	frameshift_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77356311delA	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2085delT	16.37:g.77356311delA	ENSP00000282849:p.Phe695fs						p.F695fs	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			14	2503	-			695			Cys-rich.		Q6P4R5|Q6ZWJ9	Frame_Shift_Del	DEL	ENST00000282849.5	37	c.2085delT	CCDS10926.1																																																																																				0.403	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			7	130						7	130	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr17:67125767delA	ENST00000284425.2	-	7	1091	c.917delT	c.(916-918)ttafs	p.L306fs		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	306					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TAAGCCATATAAAAAAAAGAG	0.308																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(916-918)tafs		ATP-binding cassette, sub-family A (ABC1), member 6							75.0	81.0	79.0					17																	67125767		2202	4295	6497	SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67125767delA	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.917delT	17.37:g.67125767delA	ENSP00000284425:p.Leu306fs						p.L306fs	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			7	1091	-	Breast(10;5.65e-12)		306					Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Del	DEL	ENST00000284425.2	37	c.917delT	CCDS11683.1																																																																																				0.308	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		7	105						7	105	---	---	---	---
CTC-513N18.6	0	broad.mit.edu	37	19	20663034	20663034	+	lincRNA	DEL	G	G	-	rs143358891	byFrequency	TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr19:20663034delG	ENST00000598131.1	+	0	256																											agcttcttttgtccagctgct	0.537													|||unknown(ALL_OTHER_Ns)	40	0.00798722	0.0015	0.0202	5008	,	,		17939	0.001		0.0169	False		,,,				2504	0.0061					ENST00000598131.1																			0																																																			0							g.chr19:20663034delG																													19.37:g.20663034delG														0	256	+									RNA	DEL	ENST00000598131.1	37																																																																																						0.537	CTC-513N18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000463072.1			3	6						3	6	---	---	---	---
