#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
DLEC1	9940	broad.mit.edu	37	3	38104135	38104135	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr3:38104135G>A	ENST00000308059.6	+	5	958	c.937G>A	c.(937-939)Gac>Aac	p.D313N	DLEC1_ENST00000346219.3_Missense_Mutation_p.D313N|DLEC1_ENST00000452631.2_Missense_Mutation_p.D313N					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAGAGAGCTAGACAGACTTCT	0.428																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(937-939)Gac>Aac		deleted in lung and esophageal cancer 1							123.0	120.0	121.0					3																	38104135		1899	4133	6032	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38104135G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.937G>A	3.37:g.38104135G>A	ENSP00000308597:p.Asp313Asn					DLEC1_ENST00000452631.2_Missense_Mutation_p.D313N|DLEC1_ENST00000346219.3_Missense_Mutation_p.D313N	p.D313N			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	5	958	+			313						Missense_Mutation	SNP	ENST00000308059.6	37	c.937G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157355	0.78114	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.04862	3.57;3.54;3.79	4.97	4.97	0.65823	.	0.411475	0.26380	N	0.024702	T	0.08133	0.0203	L	0.46157	1.445	0.34206	D	0.673725	B;B;B;B	0.33583	0.264;0.418;0.288;0.418	B;B;B;B	0.32805	0.097;0.153;0.153;0.153	T	0.08659	-1.0711	10	0.66056	D	0.02	-15.9923	13.5922	0.61967	0.0:0.0:1.0:0.0	.	313;313;313;313	A1L305;F8W6T4;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	N	313	ENSP00000308597:D313N;ENSP00000315914:D313N;ENSP00000410427:D313N	ENSP00000308597:D313N	D	+	1	0	DLEC1	38079139	1.000000	0.71417	0.659000	0.29680	0.897000	0.52465	4.865000	0.62998	2.581000	0.87130	0.655000	0.94253	GAC		0.428	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		3	33	0	0	0	1	0	3	33				
OR10G8	219869	broad.mit.edu	37	11	123900690	123900690	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr11:123900690C>T	ENST00000431524.1	+	1	394	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTCCTGTGATCGCTACCTGGC	0.562																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(361-363)Cgc>Tgc		olfactory receptor, family 10, subfamily G, member 8							153.0	144.0	147.0					11																	123900690		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900690C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.361C>T	11.37:g.123900690C>T	ENSP00000389072:p.Arg121Cys						p.R121C	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	394	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	121					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.361C>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.353775	0.61293	.	.	ENSG00000234560	ENST00000431524	T	0.77358	-1.09	3.04	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.149054	0.28671	N	0.014539	D	0.87525	0.6199	M	0.85197	2.74	0.50039	D	0.999847	D	0.89917	1.0	D	0.68353	0.957	D	0.89642	0.3863	10	0.72032	D	0.01	.	13.2906	0.60269	0.0:1.0:0.0:0.0	.	121	Q8NGN5	O10G8_HUMAN	C	121	ENSP00000389072:R121C	ENSP00000389072:R121C	R	+	1	0	OR10G8	123405900	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.093000	0.50217	1.684000	0.51022	0.650000	0.86243	CGC		0.562	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		5	106	0	0	0	1	0	5	106				
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						ENST00000360151.4																			2	Substitution - Missense(2)	p.L290F(2)	kidney(2)								c.(868-870)Ctc>Ttc		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.L290F	NM_001277325.1	NP_001264254.1					8	867	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.868C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			5	177	0	0	0	1	0	5	177				
KMT2C	58508	broad.mit.edu	37	7	151933008	151933008	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr7:151933008G>A	ENST00000262189.6	-	16	2881	c.2663C>T	c.(2662-2664)tCt>tTt	p.S888F	KMT2C_ENST00000355193.2_Missense_Mutation_p.S888F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	888					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGAAATCCAGACCCACGGCC	0.453																																						ENST00000355193.2																			0											c.(2662-2664)tCt>tTt		lysine (K)-specific methyltransferase 2C							32.0	33.0	33.0					7																	151933008		2202	4298	6500	SO:0001583	missense	58508							g.chr7:151933008G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2663C>T	7.37:g.151933008G>A	ENSP00000262189:p.Ser888Phe					KMT2C_ENST00000262189.6_Missense_Mutation_p.S888F	p.S888F							16	2881	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2663C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243507	0.58995	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.87412	-2.24;-2.25	5.1	5.1	0.69264	.	0.000000	0.42172	D	0.000746	D	0.92341	0.7570	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.93043	0.6459	10	0.87932	D	0	.	17.0444	0.86498	0.0:0.0:1.0:0.0	.	888	Q8NEZ4	MLL3_HUMAN	F	888	ENSP00000262189:S888F;ENSP00000347325:S888F	ENSP00000262189:S888F	S	-	2	0	MLL3	151563941	1.000000	0.71417	0.953000	0.39169	0.963000	0.63663	7.232000	0.78116	2.530000	0.85305	0.650000	0.86243	TCT		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			6	51	0	0	0	1	0	6	51				
UNC5B	219699	broad.mit.edu	37	10	73050842	73050842	+	Missense_Mutation	SNP	G	G	A	rs140003194		TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr10:73050842G>A	ENST00000335350.6	+	9	1686	c.1270G>A	c.(1270-1272)Gtc>Atc	p.V424I	UNC5B_ENST00000373192.4_Missense_Mutation_p.V413I	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	424					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.V424I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TTTCCACCCCGTCAACTTTAA	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		17570	0.0		0.0	False		,,,				2504	0.001					ENST00000335350.6																			1	Substitution - Missense(1)	p.V424I(1)	ovary(1)	breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(1270-1272)Gtc>Atc		unc-5 homolog B (C. elegans)		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	205.0	196.0	199.0		1270	3.5	0.4	10	dbSNP_134	199	0,8600		0,0,4300	no	missense	UNC5B	NM_170744.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	424/946	73050842	1,13005	2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73050842G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1270G>A	10.37:g.73050842G>A	ENSP00000334329:p.Val424Ile					UNC5B_ENST00000373192.4_Missense_Mutation_p.V413I	p.V424I	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			9	1686	+			424					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1270G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367278	0.61513	2.27E-4	0.0	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.52057	0.75;0.68	5.39	3.52	0.40303	.	0.181808	0.48767	D	0.000180	T	0.59985	0.2234	M	0.79693	2.465	0.53005	D	0.999966	D;D	0.67145	0.996;0.994	P;P	0.55055	0.767;0.534	T	0.59558	-0.7432	10	0.33141	T	0.24	-39.5081	10.9568	0.47362	0.0705:0.1302:0.7993:0.0	.	413;424	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	I	424;413	ENSP00000334329:V424I;ENSP00000362288:V413I	ENSP00000334329:V424I	V	+	1	0	UNC5B	72720848	1.000000	0.71417	0.428000	0.26697	0.069000	0.16628	6.753000	0.74904	0.647000	0.30713	0.655000	0.94253	GTC		0.602	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		5	226	0	0	0	1	0	5	226				
GLYATL1	92292	broad.mit.edu	37	11	58722339	58722339	+	Missense_Mutation	SNP	G	G	A	rs145603117	byFrequency	TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr11:58722339G>A	ENST00000317391.4	+	6	623	c.283G>A	c.(283-285)Gta>Ata	p.V95I	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.V126I	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	95						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TTGTGAGATCGTAAACTGGAA	0.393																																						ENST00000300079.5																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(376-378)Gta>Ata		glycine-N-acyltransferase-like 1	Glycine(DB00145)	G	ILE/VAL,ILE/VAL,ILE/VAL	0,4402		0,0,2201	72.0	69.0	70.0		283,283,376	-0.2	0.0	11	dbSNP_134	70	1,8589		0,1,4294	no	missense,missense,missense	GLYATL1	NM_001220494.1,NM_001220496.1,NM_080661.3	29,29,29	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	95/303,95/303,126/334	58722339	1,12991	2201	4295	6496	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58722339G>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.283G>A	11.37:g.58722339G>A	ENSP00000322223:p.Val95Ile					GLYATL1_ENST00000317391.4_Missense_Mutation_p.V95I|RP11-142C4.6_ENST00000533954.1_RNA	p.V126I	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN			5	426	+			95					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.376G>A	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	0.013	-1.608505	0.00842	0.0	1.16E-4	ENSG00000166840	ENST00000526351;ENST00000444580;ENST00000317391;ENST00000300079	T;T;T	0.11277	2.79;2.79;2.79	2.37	-0.244	0.13031	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	0.381522	0.17855	N	0.159718	T	0.01287	0.0042	N	0.00072	-2.265	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42899	-0.9424	10	0.02654	T	1	.	4.685	0.12754	0.6639:0.0:0.3361:0.0	.	126;95	Q969I3-2;Q969I3	.;GLYL1_HUMAN	I	118;72;95;126	ENSP00000434652:V118I;ENSP00000322223:V95I;ENSP00000300079:V126I	ENSP00000300079:V126I	V	+	1	0	GLYATL1	58478915	0.580000	0.26733	0.024000	0.17045	0.086000	0.17979	1.109000	0.31135	-0.200000	0.10300	-1.373000	0.01185	GTA		0.393	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		3	26	0	0	0	1	0	3	26				
NID1	4811	broad.mit.edu	37	1	236154305	236154305	+	Missense_Mutation	SNP	C	C	T	rs200467845		TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr1:236154305C>T	ENST00000264187.6	-	14	2891	c.2809G>A	c.(2809-2811)Gtg>Atg	p.V937M	NID1_ENST00000366595.3_Missense_Mutation_p.V804M	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	937					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.V937M(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	AAGGGGATCACGGCGGTAGGC	0.597																																						ENST00000264187.6																			1	Substitution - Missense(1)	p.V937M(1)	prostate(1)	breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(2809-2811)Gtg>Atg		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						77.0	74.0	75.0					1																	236154305		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236154305C>T	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2809G>A	1.37:g.236154305C>T	ENSP00000264187:p.Val937Met					NID1_ENST00000366595.3_Missense_Mutation_p.V804M	p.V937M	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		14	2891	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	937					Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.2809G>A	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979250	0.53827	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.88741	-1.78;-2.42	5.1	4.18	0.49190	.	0.495541	0.23738	N	0.045047	D	0.92743	0.7693	M	0.76574	2.34	0.09310	N	1	D;D	0.89917	0.996;1.0	P;D	0.73708	0.799;0.981	D	0.85423	0.1144	10	0.59425	D	0.04	.	8.7947	0.34872	0.0:0.7782:0.0:0.2218	.	804;937	P14543-2;P14543	.;NID1_HUMAN	M	937;804	ENSP00000264187:V937M;ENSP00000355554:V804M	ENSP00000264187:V937M	V	-	1	0	NID1	234220928	0.619000	0.27059	0.370000	0.25965	0.619000	0.37552	1.231000	0.32624	1.285000	0.44548	0.491000	0.48974	GTG		0.597	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		19	19	0	0	0	1	0	19	19				
TPPP3	51673	broad.mit.edu	37	16	67424181	67424181	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr16:67424181C>T	ENST00000564104.1	-	3	1268	c.427G>A	c.(427-429)Ggc>Agc	p.G143S	RNU1-123P_ENST00000458950.1_RNA|TPPP3_ENST00000290942.5_Missense_Mutation_p.G143S|TPPP3_ENST00000562206.1_Missense_Mutation_p.G143S|TPPP3_ENST00000393957.2_Missense_Mutation_p.G143S			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	143					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TTGCCCTTGCCGCTCTCATCG	0.577																																						ENST00000564104.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7						c.(427-429)Ggc>Agc		tubulin polymerization-promoting protein family member 3							148.0	122.0	131.0					16																	67424181		2198	4300	6498	SO:0001583	missense	51673				microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding	g.chr16:67424181C>T	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.427G>A	16.37:g.67424181C>T	ENSP00000462435:p.Gly143Ser					TPPP3_ENST00000393957.2_Missense_Mutation_p.G143S|TPPP3_ENST00000290942.5_Missense_Mutation_p.G143S|TPPP3_ENST00000562206.1_Missense_Mutation_p.G143S	p.G143S			Q9BW30	TPPP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)	3	1268	-		Ovarian(137;0.0563)	143					Q49AH9|Q9Y326|Q9Y6H0	Missense_Mutation	SNP	ENST00000564104.1	37	c.427G>A	CCDS10835.1	.	.	.	.	.	.	.	.	.	.	c	32	5.188611	0.94923	.	.	ENSG00000159713	ENST00000393957;ENST00000290942	T;T	0.47177	0.85;0.85	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	M	0.93375	3.41	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.83733	0.0199	10	0.72032	D	0.01	-6.7957	15.6513	0.77095	0.0:1.0:0.0:0.0	.	143	Q9BW30	TPPP3_HUMAN	S	143	ENSP00000377529:G143S;ENSP00000290942:G143S	ENSP00000290942:G143S	G	-	1	0	TPPP3	65981682	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.603000	0.82811	2.135000	0.66039	0.556000	0.70494	GGC		0.577	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964		4	107	0	0	0	1	0	4	107				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			4	44	0	0	0	1	0	4	44				
GRIN3A	116443	broad.mit.edu	37	9	104357180	104357180	+	Intron	SNP	C	C	T	rs367897972		TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr9:104357180C>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.P11P	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ACATCTCCGCCGGGTAACTGG	0.582																																						ENST00000374806.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(31-33)ccG>ccA		protein phosphatase 3, regulatory subunit B, beta	Cyclosporine(DB00091)						49.0	55.0	53.0					9																	104357180		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104357180C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15538G>A	9.37:g.104357180C>T						GRIN3A_ENST00000361820.3_Intron	p.P11P	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN			1	103	-		Acute lymphoblastic leukemia(62;0.0527)	8					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.33G>A	CCDS6758.1																																																																																				0.582	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			37	46	0	0	0	1	0	37	46				
DDX18	8886	broad.mit.edu	37	2	118582524	118582524	+	Silent	SNP	T	T	C			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr2:118582524T>C	ENST00000263239.2	+	9	1343	c.1215T>C	c.(1213-1215)gtT>gtC	p.V405V		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	405	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGGGATATGTTGTTTGTCCTT	0.363																																						ENST00000263239.2																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1213-1215)gtT>gtC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							114.0	107.0	109.0					2																	118582524		2203	4300	6503	SO:0001819	synonymous_variant	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118582524T>C	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1215T>C	2.37:g.118582524T>C							p.V405V	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN			9	1343	+			405			Helicase C-terminal.		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	SNP	ENST00000263239.2	37	c.1215T>C	CCDS2120.1																																																																																				0.363	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		6	62	0	0	0	1	0	6	62				
TPTE	7179	broad.mit.edu	37	21	10934987	10934987	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr21:10934987C>T	ENST00000361285.4	-	15	1135	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	TPTE_ENST00000342420.5_Missense_Mutation_p.R231Q|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.R251Q	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	269	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCTAGAAACCGCACAACTTC	0.338																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(751-753)cGg>cAg		transmembrane phosphatase with tensin homology							215.0	194.0	201.0					21																	10934987		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10934987C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.806G>A	21.37:g.10934987C>T	ENSP00000355208:p.Arg269Gln					TPTE_ENST00000342420.5_Missense_Mutation_p.R231Q|TPTE_ENST00000361285.4_Missense_Mutation_p.R269Q|TPTE_ENST00000415664.2_5'UTR	p.R251Q	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	14	1119	-			269			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.752G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	12.55	1.970847	0.34754	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98617	-5.03;-5.03;-5.03	2.25	1.34	0.21922	Phosphatase tensin type (1);	0.107189	0.64402	U	0.000008	D	0.97542	0.9195	M	0.77313	2.365	0.40902	D	0.984163	D;D;P	0.55605	0.972;0.972;0.781	P;P;B	0.48400	0.576;0.576;0.389	D	0.95225	0.8337	10	0.52906	T	0.07	-10.1714	4.7758	0.13178	0.0:0.8131:0.0:0.1869	.	231;251;269	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Q	251;269;231	ENSP00000298232:R251Q;ENSP00000355208:R269Q;ENSP00000344441:R231Q	ENSP00000298232:R251Q	R	-	2	0	TPTE	9956858	0.995000	0.38212	0.843000	0.33291	0.148000	0.21650	3.061000	0.49963	0.517000	0.28361	0.194000	0.17425	CGG		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			6	194	0	0	0	1	0	6	194				
CLTCL1	8218	broad.mit.edu	37	22	19226895	19226895	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr22:19226895A>G	ENST00000263200.10	-	5	770	c.698T>C	c.(697-699)gTt>gCt	p.V233A	CLTCL1_ENST00000427926.1_Missense_Mutation_p.V233A|CLTCL1_ENST00000353891.5_Missense_Mutation_p.V233A	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	233	Globular terminal domain.|WD40-like repeat 5.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGGCTGTCCAACTTCAATGAT	0.488			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(697-699)gTt>gCt		clathrin, heavy chain-like 1							159.0	157.0	158.0					22																	19226895		1909	4117	6026	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19226895A>G		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.698T>C	22.37:g.19226895A>G	ENSP00000445677:p.Val233Ala					CLTCL1_ENST00000427926.1_Missense_Mutation_p.V233A|CLTCL1_ENST00000353891.5_Missense_Mutation_p.V233A	p.V233A	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			5	770	-	Colorectal(54;0.0993)		233			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.698T>C	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.137520	0.77775	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.26067	1.76;1.76;1.76	3.43	3.43	0.39272	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.64402	D	0.000015	T	0.53254	0.1785	M	0.91406	3.205	0.80722	D	1	P;P	0.45348	0.856;0.767	P;P	0.57720	0.826;0.457	T	0.63902	-0.6532	10	0.87932	D	0	-13.3594	12.0644	0.53580	1.0:0.0:0.0:0.0	.	233;233	P53675-2;P53675	.;CLH2_HUMAN	A	233	ENSP00000439662:V233A;ENSP00000445677:V233A;ENSP00000441158:V233A	ENSP00000445677:V233A	V	-	2	0	CLTCL1	17606895	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	8.159000	0.89651	1.423000	0.47198	0.482000	0.46254	GTT		0.488	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		4	93	0	0	0	1	0	4	93				
PLIN4	729359	broad.mit.edu	37	19	4511859	4511859	+	Missense_Mutation	SNP	T	T	C	rs570898926		TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr19:4511859T>C	ENST00000301286.3	-	3	2070	c.2071A>G	c.(2071-2073)Atg>Gtg	p.M691V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	691	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACTGCCCCCATGAGCCCAGTA	0.592													T|||	1	0.000199681	0.0	0.0	5008	,	,		39657	0.0		0.0	False		,,,				2504	0.001					ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(2071-2073)Atg>Gtg		perilipin 4							243.0	261.0	255.0					19																	4511859		2151	4245	6396	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4511859T>C	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2071A>G	19.37:g.4511859T>C	ENSP00000301286:p.Met691Val						p.M691V	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	2070	-			691			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.2071A>G	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.670420	0.29693	.	.	ENSG00000167676	ENST00000301286	T	0.02763	4.17	5.31	5.31	0.75309	.	1.216040	0.06290	N	0.699098	T	0.04182	0.0116	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.41858	-0.9485	10	0.30854	T	0.27	-0.8619	9.4897	0.38951	0.1579:0.0:0.0:0.8421	.	691	Q96Q06	PLIN4_HUMAN	V	691	ENSP00000301286:M691V	ENSP00000301286:M691V	M	-	1	0	PLIN4	4462859	0.000000	0.05858	0.024000	0.17045	0.045000	0.14185	0.103000	0.15292	2.008000	0.58898	0.386000	0.25728	ATG		0.592	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		6	521	0	0	0	1	0	6	521				
PPL	5493	broad.mit.edu	37	16	4933851	4933851	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr16:4933851G>A	ENST00000345988.2	-	22	4894	c.4805C>T	c.(4804-4806)gCg>gTg	p.A1602V	PPL_ENST00000590782.2_Missense_Mutation_p.A1600V	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1602					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCCAGAGTCCGCCACGGTCAT	0.577																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(4804-4806)gCg>gTg		periplakin							118.0	112.0	114.0					16																	4933851		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4933851G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4805C>T	16.37:g.4933851G>A	ENSP00000340510:p.Ala1602Val					PPL_ENST00000590782.2_Missense_Mutation_p.A1600V	p.A1602V	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	4894	-			1602					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.4805C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	2.234	-0.375320	0.05034	.	.	ENSG00000118898	ENST00000345988	T	0.48522	0.81	5.71	-11.4	0.00090	.	1.157160	0.06254	N	0.692620	T	0.15176	0.0366	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45101	-0.9284	10	0.08381	T	0.77	.	15.2394	0.73455	0.8143:0.0:0.1038:0.0819	.	1602	O60437	PEPL_HUMAN	V	1602	ENSP00000340510:A1602V	ENSP00000340510:A1602V	A	-	2	0	PPL	4873852	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.247000	0.08866	-1.784000	0.01272	-0.768000	0.03414	GCG		0.577	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		4	146	0	0	0	1	0	4	146				
LRRC37B	114659	broad.mit.edu	37	17	30348408	30348408	+	Silent	SNP	G	G	A			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr17:30348408G>A	ENST00000341671.7	+	1	248	c.243G>A	c.(241-243)tcG>tcA	p.S81S	LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000327564.7_Silent_p.S108S|LRRC37B_ENST00000584368.1_Silent_p.S93S|LRRC37B_ENST00000394713.3_Silent_p.S81S	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	81						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.S81S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CTGCTTCTTCGCAGATGTCAG	0.597																																						ENST00000327564.7																			1	Substitution - coding silent(1)	p.S81S(1)	prostate(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(322-324)tcG>tcA		leucine rich repeat containing 37B							49.0	58.0	55.0					17																	30348408		2202	4299	6501	SO:0001819	synonymous_variant	114659					integral to membrane		g.chr17:30348408G>A	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.243G>A	17.37:g.30348408G>A						LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000584368.1_Silent_p.S93S|LRRC37B_ENST00000394713.3_Silent_p.S81S|LRRC37B_ENST00000341671.7_Silent_p.S81S	p.S108S			Q96QE4	LR37B_HUMAN			1	385	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	81					Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	c.324G>A	CCDS32609.1																																																																																				0.597	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		47	52	0	0	0	1	0	47	52				
NKD2	85409	broad.mit.edu	37	5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-	rs3840989		TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000382730.2_In_Frame_Del_p.P86del|NKD2_ENST00000274150.4_3'UTR	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69																																						ENST00000296849.5																			0				breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(1315-1317)del		naked cuticle homolog 2 (Drosophila)																																				SO:0001651	inframe_deletion	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1038447_1038449delCAC	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1315_1317delCAC	5.37:g.1038456_1038458delCAC	ENSP00000296849:p.His447del					NKD2_ENST00000382730.2_In_Frame_Del_p.AP78del|NKD2_ENST00000274150.4_3'UTR	p.H447del	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		10	1544_1546	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		447			His-rich.		Q96EK8|Q9BSN0	In_Frame_Del	DEL	ENST00000296849.5	37	c.1315_1317delCAC	CCDS3859.1																																																																																				0.690	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		2	4						2	4	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																						ENST00000244496.5																			2	Deletion - In frame(2)	p.A8_G9delAG(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(22-27)del		ribosomal RNA processing 36 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989414_42989419delGCCGGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del						p.AG14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	32_37	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.22_27delGCCGGG	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		4	4						4	4	---	---	---	---
CPVL	54504	broad.mit.edu	37	7	29070261	29070262	+	Frame_Shift_Ins	INS	-	-	T			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr7:29070261_29070262insT	ENST00000409850.1	-	16	1897_1898	c.1251_1252insA	c.(1249-1254)aaagttfs	p.V418fs	CPVL_ENST00000265394.5_Frame_Shift_Ins_p.V418fs|CPVL_ENST00000396276.3_Frame_Shift_Ins_p.V418fs			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	418						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.V418fs*24(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATCTTCCAAACTTTTTTTTCTG	0.51																																						ENST00000409850.1																			1	Deletion - Frameshift(1)	p.V418fs*24(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(1249-1254)aatttgfs		carboxypeptidase, vitellogenic-like																																				SO:0001589	frameshift_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29070261_29070262insT	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.1252dupA	7.37:g.29070269_29070269dupT	ENSP00000387164:p.Val418fs					CPVL_ENST00000265394.5_Frame_Shift_Ins_p.NL417fs|CPVL_ENST00000396276.3_Frame_Shift_Ins_p.NL417fs	p.NL417fs			Q9H3G5	CPVL_HUMAN			16	1897_1898	-			417					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Frame_Shift_Ins	INS	ENST00000409850.1	37	c.1251_1252insA	CCDS5419.1																																																																																				0.510	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		10	296						10	296	---	---	---	---
LOC101928880	101928880	broad.mit.edu	37	16	88226611	88226611	+	lincRNA	DEL	G	G	-			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr16:88226611delG	ENST00000569362.1	+	0	0				RP11-863P13.2_ENST00000568587.1_lincRNA																							tggtggtgatggtggtgatgg	0.522																																						ENST00000568587.1																			0																																																			0							g.chr16:88226611delG																													16.37:g.88226611delG														0	91	-									RNA	DEL	ENST00000569362.1	37																																																																																						0.522	LA16c-444G7.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430450.1			2	4						2	4	---	---	---	---
LRRN4	164312	broad.mit.edu	37	20	6033401	6033401	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr20:6033401delG	ENST00000378858.4	-	2	269	c.45delC	c.(43-45)cccfs	p.P15fs		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	15					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CTGCCCAGCTGGGGCGCAGCA	0.682																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(43-45)ccfs		leucine rich repeat neuronal 4							5.0	7.0	6.0					20																	6033401		2143	4225	6368	SO:0001589	frameshift_variant	164312					integral to membrane		g.chr20:6033401delG	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.45delC	20.37:g.6033401delG	ENSP00000368135:p.Pro15fs						p.P15fs	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			2	269	-			15					A8K258|Q5JWV6|Q9H419	Frame_Shift_Del	DEL	ENST00000378858.4	37	c.45delC	CCDS13097.1																																																																																				0.682	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		2	4						2	4	---	---	---	---
