#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
ABCA13	154664	broad.mit.edu	37	7	48431693	48431693	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr7:48431693G>A	ENST00000435803.1	+	38	11854	c.11830G>A	c.(11830-11832)Gcg>Acg	p.A3944T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3944	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCCATAAAGGCGCCTCAGTG	0.527																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11830-11832)Gcg>Acg		ATP-binding cassette, sub-family A (ABC1), member 13							107.0	109.0	108.0					7																	48431693		2007	4174	6181	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48431693G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11830G>A	7.37:g.48431693G>A	ENSP00000411096:p.Ala3944Thr						p.A3944T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			38	11854	+			3944			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.11830G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961710	0.34659	.	.	ENSG00000179869	ENST00000435803	D	0.86030	-2.06	5.32	3.49	0.39957	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.180079	0.26331	U	0.024983	D	0.85234	0.5650	L	0.42008	1.315	0.80722	D	1	P;P	0.43314	0.713;0.803	P;P	0.49477	0.612;0.529	D	0.83977	0.0330	10	0.72032	D	0.01	.	14.2686	0.66138	0.0:0.0:0.7309:0.2691	.	1646;3944	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	T	3944	ENSP00000411096:A3944T	ENSP00000411096:A3944T	A	+	1	0	ABCA13	48402239	1.000000	0.71417	0.022000	0.16811	0.019000	0.09904	5.127000	0.64727	0.226000	0.20979	-2.051000	0.00406	GCG		0.527	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		5	35	0	0	0	1	0	5	35				
CRYBB1	1414	broad.mit.edu	37	22	26997913	26997913	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr22:26997913C>G	ENST00000215939.2	-	5	635	c.505G>C	c.(505-507)Gac>Cac	p.D169H		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	169	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GGTGCGTCGTCCCCCTGGATC	0.607																																						ENST00000215939.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						c.(505-507)Gac>Cac		crystallin, beta B1							103.0	76.0	85.0					22																	26997913		2203	4300	6503	SO:0001583	missense	1414				visual perception		structural constituent of eye lens	g.chr22:26997913C>G		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.505G>C	22.37:g.26997913C>G	ENSP00000215939:p.Asp169His						p.D169H	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN			5	635	-			169			Beta/gamma crystallin 'Greek key' 3.			Missense_Mutation	SNP	ENST00000215939.2	37	c.505G>C	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742160	0.49151	.	.	ENSG00000100122	ENST00000215939	T	0.78003	-1.14	4.8	4.8	0.61643	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.049341	0.85682	D	0.000000	D	0.91243	0.7240	H	0.94698	3.57	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.93690	0.7006	10	0.87932	D	0	.	17.0174	0.86423	0.0:1.0:0.0:0.0	.	169	P53674	CRBB1_HUMAN	H	169	ENSP00000215939:D169H	ENSP00000215939:D169H	D	-	1	0	CRYBB1	25327913	1.000000	0.71417	0.990000	0.47175	0.057000	0.15508	7.114000	0.77103	2.468000	0.83385	0.591000	0.81541	GAC		0.607	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		19	20	0	0	0	1	0	19	20				
VWA3B	200403	broad.mit.edu	37	2	98928440	98928440	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr2:98928440C>T	ENST00000477737.1	+	27	3884	c.3680C>T	c.(3679-3681)tCc>tTc	p.S1227F	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1227										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCGGACGGCTCCTCCCACGGC	0.642																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(3679-3681)tCc>tTc		von Willebrand factor A domain containing 3B							11.0	15.0	14.0					2																	98928440		1891	4086	5977	SO:0001583	missense	200403							g.chr2:98928440C>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3680C>T	2.37:g.98928440C>T	ENSP00000417955:p.Ser1227Phe					VWA3B_ENST00000490947.2_3'UTR	p.S1227F	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			27	3884	+			1227					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3680C>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	c	10.62	1.400723	0.25291	.	.	ENSG00000168658	ENST00000477737;ENST00000358269	T	0.07908	3.15	4.1	2.24	0.28232	.	.	.	.	.	T	0.11665	0.0284	L	0.36672	1.1	0.09310	N	0.999999	P;P	0.47677	0.899;0.838	P;P	0.53809	0.735;0.466	T	0.16988	-1.0384	9	0.54805	T	0.06	.	5.0678	0.14591	0.2044:0.6887:0.0:0.107	.	619;1227	Q502W6-5;Q502W6	.;VWA3B_HUMAN	F	1227;349	ENSP00000417955:S1227F	ENSP00000351009:S349F	S	+	2	0	VWA3B	98294872	0.001000	0.12720	0.018000	0.16275	0.005000	0.04900	-0.009000	0.12765	0.659000	0.30945	-0.320000	0.08662	TCC		0.642	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		5	5	0	0	0	1	0	5	5				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		4	379	0	0	0	1	0	4	379				
ZBED1	9189	broad.mit.edu	37	X	2408700	2408700	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chrX:2408700C>T	ENST00000381223.4	-	2	264	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	ZBED1_ENST00000381218.3_Missense_Mutation_p.A21T|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381222.2_Missense_Mutation_p.A21T	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	21					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGCTCTTGGCGCGGGGGTGG	0.582																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(61-63)Gcc>Acc		zinc finger, BED-type containing 1							138.0	141.0	140.0					X																	2408700		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2408700C>T	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.61G>A	X.37:g.2408700C>T	ENSP00000370621:p.Ala21Thr					ZBED1_ENST00000381222.2_Missense_Mutation_p.A21T|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.A21T	p.A21T	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	264	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	21					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.61G>A	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301424	0.40694	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691	.	.	.	2.46	2.46	0.29980	Zinc finger, BED-type predicted (2);	0.115187	0.31290	U	0.007920	T	0.51041	0.1651	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.45116	-0.9283	8	0.13108	T	0.6	-18.4507	12.7367	0.57228	0.0:1.0:0.0:0.0	.	21	O96006	ZBED1_HUMAN	T	21	.	ENSP00000370616:A21T	A	-	1	0	ZBED1	2418700	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	5.061000	0.64319	0.995000	0.38917	0.425000	0.28330	GCC		0.582	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		4	172	0	0	0	1	0	4	172				
XRN1	54464	broad.mit.edu	37	3	142054337	142054337	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr3:142054337T>C	ENST00000264951.4	-	34	4009	c.3892A>G	c.(3892-3894)Aag>Gag	p.K1298E	XRN1_ENST00000392981.2_Missense_Mutation_p.K1298E	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1298					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TTAGGACTCTTACACTCTTCT	0.313																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(3892-3894)Aag>Gag		5'-3' exoribonuclease 1							98.0	102.0	101.0					3																	142054337		2202	4300	6502	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142054337T>C	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.3892A>G	3.37:g.142054337T>C	ENSP00000264951:p.Lys1298Glu					XRN1_ENST00000392981.2_Missense_Mutation_p.K1298E	p.K1298E	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			34	4009	-			1298					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.3892A>G	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.802959	0.31869	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.30981	1.51;1.51	5.07	3.86	0.44501	.	0.763514	0.12718	N	0.444951	T	0.20047	0.0482	N	0.19112	0.55	0.80722	D	1	B;B	0.20261	0.043;0.025	B;B	0.23852	0.049;0.013	T	0.03673	-1.1014	10	0.16896	T	0.51	-1.7113	10.4944	0.44768	0.0:0.0:0.163:0.837	.	1298;1298	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	E	1298	ENSP00000264951:K1298E;ENSP00000376707:K1298E	ENSP00000264951:K1298E	K	-	1	0	XRN1	143537027	1.000000	0.71417	0.974000	0.42286	0.646000	0.38490	2.835000	0.48175	0.830000	0.34757	0.455000	0.32223	AAG		0.313	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		37	31	0	0	0	1	0	37	31				
COPA	1314	broad.mit.edu	37	1	160276973	160276973	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr1:160276973C>A	ENST00000241704.7	-	14	1511	c.1282G>T	c.(1282-1284)Gtc>Ttc	p.V428F	COPA_ENST00000368069.3_Missense_Mutation_p.V428F	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	428					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGATCTAGGACAGCAAACCGA	0.493																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(1282-1284)Gtc>Ttc		coatomer protein complex, subunit alpha							175.0	169.0	171.0					1																	160276973		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160276973C>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1282G>T	1.37:g.160276973C>A	ENSP00000241704:p.Val428Phe					COPA_ENST00000368069.3_Missense_Mutation_p.V428F	p.V428F	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		14	1511	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		428					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.1282G>T	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562411	0.86335	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.69040	-0.28;-0.37	5.55	5.55	0.83447	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.82540	0.5059	M	0.87547	2.89	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.85130	0.92;0.997	D	0.83586	0.0120	10	0.59425	D	0.04	-20.7324	18.2485	0.89995	0.0:1.0:0.0:0.0	.	428;428	P53621;P53621-2	COPA_HUMAN;.	F	428	ENSP00000357048:V428F;ENSP00000241704:V428F	ENSP00000241704:V428F	V	-	1	0	COPA	158543597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.416000	0.80143	2.894000	0.99253	0.591000	0.81541	GTC		0.493	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		4	128	1	0	1	1	1	4	128				
DIDO1	11083	broad.mit.edu	37	20	61512558	61512558	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr20:61512558G>T	ENST00000266070.4	-	16	5075	c.4750C>A	c.(4750-4752)Cgt>Agt	p.R1584S	DIDO1_ENST00000395343.1_Missense_Mutation_p.R1584S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1584					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGCACCACGTGCCGAGAGC	0.706																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4750-4752)Cgt>Agt		death inducer-obliterator 1							13.0	17.0	15.0					20																	61512558		2074	4083	6157	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512558G>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4750C>A	20.37:g.61512558G>T	ENSP00000266070:p.Arg1584Ser					DIDO1_ENST00000395343.1_Missense_Mutation_p.R1584S	p.R1584S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5075	-	Breast(26;5.68e-08)		1584					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4750C>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	0.832	-0.744789	0.03065	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.06933	3.24;3.24	4.5	-0.448	0.12230	.	3.466110	0.02260	N	0.067445	T	0.03053	0.0090	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33727	-0.9857	10	0.15066	T	0.55	2.2448	1.6537	0.02777	0.2812:0.3972:0.147:0.1747	.	1584	Q9BTC0	DIDO1_HUMAN	S	1584	ENSP00000266070:R1584S;ENSP00000378752:R1584S	ENSP00000266070:R1584S	R	-	1	0	DIDO1	60983003	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.368000	0.20399	-0.382000	0.07870	-1.434000	0.01081	CGT		0.706	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		20	18	1	0	0.000175454	1	0.000189491	20	18				
HNRNPM	4670	broad.mit.edu	37	19	8551959	8551959	+	Splice_Site	SNP	G	G	A			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr19:8551959G>A	ENST00000325495.4	+	15	2070	c.2029G>A	c.(2029-2031)Ggc>Agc	p.G677S	HNRNPM_ENST00000348943.3_Splice_Site_p.G638S	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	677	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CAACGAGTGCGGTAAGTGTTG	0.527																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.e16+1		heterogeneous nuclear ribonucleoprotein M							263.0	208.0	227.0					19																	8551959		2203	4300	6503	SO:0001630	splice_region_variant	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8551959G>A	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.2029+1G>A	19.37:g.8551959G>A						HNRNPM_ENST00000325495.4_Splice_Site_p.G677_splice	p.G638_splice	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			16	2144	+			677					Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Splice_Site	SNP	ENST00000325495.4	37	c.1912_splice	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836583	0.91117	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.45668	0.89;0.89	5.84	5.84	0.93424	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.93375	3.41	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.762	D;D;B	0.97110	0.999;1.0;0.112	T	0.81182	-0.1049	10	0.87932	D	0	.	18.7058	0.91637	0.0:0.0:1.0:0.0	.	677;638;562	P52272;P52272-2;Q59ES8	HNRPM_HUMAN;.;.	S	677;638;562;234	ENSP00000325376:G677S;ENSP00000325732:G638S	ENSP00000325376:G677S	G	+	1	0	HNRNPM	8457959	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	9.423000	0.97461	2.754000	0.94517	0.655000	0.94253	GGC		0.527	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1		Missense_Mutation	4	94	0	0	0	1	0	4	94				
NPIPA5	100288332	broad.mit.edu	37	16	15457676	15457676	+	Missense_Mutation	SNP	A	A	G	rs199607565		TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr16:15457676A>G	ENST00000360151.4	-	8	892	c.893T>C	c.(892-894)cTa>cCa	p.L298P		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	298	Pro-rich.																CGCTGAGGGTAGAGCTGAGGG	0.562																																						ENST00000360151.4																			0											c.(892-894)cTa>cCa		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457676A>G		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.893T>C	16.37:g.15457676A>G	ENSP00000433597:p.Leu298Pro						p.L298P	NM_001277325.1	NP_001264254.1					8	892	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.893T>C	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.910512	0.00056	.	.	ENSG00000183793	ENST00000360151	T	0.44482	0.92	.	.	.	.	.	.	.	.	T	0.12603	0.0306	N	0.01576	-0.805	0.09310	N	1	.	.	.	.	.	.	T	0.32534	-0.9903	4	0.07482	T	0.82	.	.	.	.	.	.	.	.	P	298	ENSP00000433597:L298P	ENSP00000433597:L298P	L	-	2	0	RP11-82O18.1	15365177	0.002000	0.14202	.	.	.	.	0.072000	0.14617	.	.	.	.	CTA		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			4	54	0	0	0	1	0	4	54				
CBLN2	147381	broad.mit.edu	37	18	70205425	70205425	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr18:70205425C>A	ENST00000269503.4	-	5	1434	c.661G>T	c.(661-663)Gtg>Ttg	p.V221L	CBLN2_ENST00000584764.1_Missense_Mutation_p.V105L|CBLN2_ENST00000585159.1_Missense_Mutation_p.V221L|CBLN2_ENST00000581073.1_Missense_Mutation_p.V107L|CBLN2_ENST00000583651.1_5'UTR	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	221	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				AGAGGAAACACCAAGAAGCCC	0.512																																						ENST00000269503.4																			0				endometrium(2)|lung(15)	17						c.(661-663)Gtg>Ttg		cerebellin 2 precursor							76.0	77.0	77.0					18																	70205425		2203	4300	6503	SO:0001583	missense	147381					integral to membrane		g.chr18:70205425C>A	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.661G>T	18.37:g.70205425C>A	ENSP00000269503:p.Val221Leu					CBLN2_ENST00000581073.1_Missense_Mutation_p.V107L|CBLN2_ENST00000585159.1_Missense_Mutation_p.V221L|CBLN2_ENST00000584764.1_Missense_Mutation_p.V105L|CBLN2_ENST00000583651.1_5'UTR	p.V221L	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN			5	1434	-		Esophageal squamous(42;0.131)	221			C1q.		Q53Z56	Missense_Mutation	SNP	ENST00000269503.4	37	c.661G>T	CCDS11999.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497852	0.64186	.	.	ENSG00000141668	ENST00000269503	T	0.26660	1.72	5.66	5.66	0.87406	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.065948	0.64402	D	0.000015	T	0.20251	0.0487	N	0.17564	0.495	0.80722	D	1	B	0.27656	0.184	B	0.33799	0.17	T	0.05920	-1.0856	10	0.09590	T	0.72	-15.3682	20.1253	0.97977	0.0:1.0:0.0:0.0	.	221	Q8IUK8	CBLN2_HUMAN	L	221	ENSP00000269503:V221L	ENSP00000269503:V221L	V	-	1	0	CBLN2	68356405	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.832000	0.97577	0.655000	0.94253	GTG		0.512	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		6	50	1	0	8.12818e-05	1	9.14421e-05	6	50				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	34	0	0	0	1	0	3	34				
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr7:26225102G>A	ENST00000056233.3	+	4	2043	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	595	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				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)	p.C595Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCGCAGAACTGTCGTAAACGC	0.368																																						ENST00000056233.3																			1	Substitution - Missense(1)	p.C595Y(1)	kidney(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1783-1785)tGt>tAt		nuclear factor, erythroid 2-like 3							61.0	58.0	59.0					7																	26225102		2203	4299	6502	SO:0001583	missense	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.chr7:26225102G>A	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.1784G>A	7.37:g.26225102G>A	ENSP00000056233:p.Cys595Tyr						p.C595Y	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	2043	+			595					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1784G>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483904	0.84854	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	D	0.92858	-3.12	5.71	5.71	0.89125	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	-5.5783	19.4639	0.94931	0.0:0.0:1.0:0.0	.	595	Q9Y4A8	NF2L3_HUMAN	Y	595;300	ENSP00000056233:C595Y	ENSP00000056233:C595Y	C	+	2	0	NFE2L3	26191627	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.984000	0.88150	2.703000	0.92315	0.591000	0.81541	TGT		0.368	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			4	45	0	0	0	1	0	4	45				
SERTM1	400120	broad.mit.edu	37	13	37269476	37269476	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr13:37269476C>G	ENST00000315190.3	+	2	707	c.261C>G	c.(259-261)ttC>ttG	p.F87L		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	87						integral component of membrane (GO:0016021)											GAAGTTCTTTCACCAATTTGG	0.453																																						ENST00000315190.3																			0											c.(259-261)ttC>ttG		serine-rich and transmembrane domain containing 1							95.0	98.0	97.0					13																	37269476		2203	4300	6503	SO:0001583	missense	400120					integral to membrane		g.chr13:37269476C>G		CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 36"""	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.261C>G	13.37:g.37269476C>G	ENSP00000325776:p.Phe87Leu						p.F87L	NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN			2	707	+			87					Q8N469	Missense_Mutation	SNP	ENST00000315190.3	37	c.261C>G	CCDS9358.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056760	0.76074	.	.	ENSG00000180440	ENST00000315190	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.62307	0.2417	N	0.14661	0.345	0.54753	D	0.999986	P	0.49696	0.927	D	0.67725	0.953	T	0.69379	-0.5161	9	0.87932	D	0	-43.6337	17.6906	0.88268	0.0:1.0:0.0:0.0	.	87	A2A2V5	SRTM1_HUMAN	L	87	.	ENSP00000325776:F87L	F	+	3	2	SERTM1	36167476	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.093000	0.76937	2.398000	0.81561	0.557000	0.71058	TTC		0.453	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2	NM_203451		10	50	0	0	0	1	0	10	50				
MYH4	4622	broad.mit.edu	37	17	10359164	10359164	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr17:10359164G>A	ENST00000255381.2	-	18	2133	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	675	Actin-binding. {ECO:0000250}.|Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATGATGCACCGCACAAAGTGG	0.433																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2023-2025)Cgg>Tgg		myosin, heavy chain 4, skeletal muscle							140.0	140.0	140.0					17																	10359164		2203	4297	6500	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10359164G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2023C>T	17.37:g.10359164G>A	ENSP00000255381:p.Arg675Trp					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.R675W	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			18	2133	-			675			Actin-binding (By similarity).|Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.2023C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896201	0.72639	.	.	ENSG00000141048	ENST00000255381	D	0.90732	-2.72	4.87	3.88	0.44766	Myosin head, motor domain (2);	0.000000	0.36628	U	0.002491	D	0.97704	0.9247	H	0.99830	4.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98866	1.0764	10	0.87932	D	0	.	14.979	0.71299	0.0:0.0:0.8565:0.1435	.	675	Q9Y623	MYH4_HUMAN	W	675	ENSP00000255381:R675W	ENSP00000255381:R675W	R	-	1	2	MYH4	10299889	1.000000	0.71417	0.987000	0.45799	0.934000	0.57294	5.602000	0.67612	1.143000	0.42306	0.455000	0.32223	CGG		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		3	46	0	0	0	1	0	3	46				
ATP10D	57205	broad.mit.edu	37	4	47570852	47570852	+	Splice_Site	SNP	A	A	G			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr4:47570852A>G	ENST00000273859.3	+	16	3122		c.e16-1			NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D						cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCTTGTTTCAAGGATGCCTGT	0.413																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.e16-1		ATPase, class V, type 10D							58.0	60.0	60.0					4																	47570852		2203	4300	6503	SO:0001630	splice_region_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47570852A>G	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2854-1A>G	4.37:g.47570852A>G								NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			16	3122	+								A2RRC8|D6REN2|Q8NC70|Q96SR3	Splice_Site	SNP	ENST00000273859.3	37		CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385331	0.82792	.	.	ENSG00000145246	ENST00000273859	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.81	0.78552	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP10D	47265609	1.000000	0.71417	0.997000	0.53966	0.879000	0.50718	7.794000	0.85869	2.326000	0.78906	0.533000	0.62120	.		0.413	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453	Intron	23	3	0	0	0	1	0	23	3				
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-	rs570105218	byFrequency	TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr6:42897358_42897360delTGC	ENST00000372836.4	+	1	421_423	c.50_52delTGC	c.(49-54)ttgctg>ttg	p.17_18LL>L	CNPY3_ENST00000394142.3_In_Frame_Del_p.17_18LL>L	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	17					innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695																																						ENST00000372836.4																			1	Deletion - In frame(1)	p.L25delL(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6						c.(49-54)ttg>t		canopy FGF signaling regulator 3																																				SO:0001651	inframe_deletion	10695				innate immune response	endoplasmic reticulum		g.chr6:42897358_42897360delTGC	U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.50_52delTGC	6.37:g.42897367_42897369delTGC	ENSP00000361926:p.Leu25del					CNPY3_ENST00000394142.3_In_Frame_Del_p.LL23del	p.LL23del	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		1	421_423	+	Colorectal(47;0.196)		23					O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	In_Frame_Del	DEL	ENST00000372836.4	37	c.50_52delTGC	CCDS4875.1																																																																																				0.695	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040564.1	NM_006586		2	4						2	4	---	---	---	---
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-	rs372591893	byFrequency	TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)ggcdel	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729														461	0.0920527	0.0098	0.1124	5008	,	,		5525	0.002		0.2664	False		,,,				2504	0.1022					ENST00000361443.4																			2	Deletion - In frame(2)	p.G165delG(1)|p.G147delG(1)	central_nervous_system(2)	NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(439-441)del		Sp8 transcription factor			,	50,654		19,12,321					,	0.5	0.3			2	602,1424		217,168,628	no	coding,coding	SP8	NM_198956.2,NM_182700.4	,	236,180,949	A1A1,A1R,RR		29.7137,7.1023,23.8828	,	,		652,2078				SO:0001651	inframe_deletion	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20824941_20824943delGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.439_441delGGC	7.37:g.20824950_20824952delGCC	ENSP00000354482:p.Gly147del					SP8_ENST00000418710.2_In_Frame_Del_p.G165del	p.G147del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN			3	676_678	-			147					Q7Z615|Q7Z616|Q96MJ1	In_Frame_Del	DEL	ENST00000361443.4	37	c.439_441delGGC	CCDS5372.1																																																																																				0.729	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			4	3						4	3	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7191540	7191541	+	lincRNA	DEL	CA	CA	-	rs376658666		TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		GGGGTGcacgcacacacacaca	0.53																																						ENST00000606573.1																			0																																																			100128890							g.chr8:7191540_7191541delCA			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7191550_7191551delCA														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.530	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		7	22						7	22	---	---	---	---
KIF26A	26153	broad.mit.edu	37	14	104645060	104645061	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr14:104645060_104645061delCC	ENST00000423312.2	+	13	5284_5285	c.5284_5285delCC	c.(5284-5286)cccfs	p.P1762fs	KIF26A_ENST00000315264.7_Frame_Shift_Del_p.P1623fs	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1762					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTTCAGCGGCCCCGCCCCACC	0.703																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(4867-4869)cfs		kinesin family member 26A																																				SO:0001589	frameshift_variant	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104645060_104645061delCC	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.5284_5285delCC	14.37:g.104645062_104645063delCC	ENSP00000388241:p.Pro1762fs					KIF26A_ENST00000423312.2_Frame_Shift_Del_p.P1762fs	p.P1623fs			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	12	5245_5246	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	1762					Q8TAZ7|Q96GK3|Q9UFL3	Frame_Shift_Del	DEL	ENST00000423312.2	37	c.4867_4868delCC	CCDS45171.1																																																																																				0.703	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			2	4						2	4	---	---	---	---
SYN1	6853	broad.mit.edu	37	X	47435571	47435571	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chrX:47435571delC	ENST00000295987.7	-	9	1241	c.1117delG	c.(1117-1119)gaafs	p.E373fs	SYN1_ENST00000340666.4_Frame_Shift_Del_p.E373fs	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	373	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						TGTAGCGCTTCCACTGCGCAG	0.562																																						ENST00000295987.7																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						c.(1117-1119)aafs		synapsin I							160.0	76.0	104.0					X																	47435571		2203	4300	6503	SO:0001589	frameshift_variant	6853					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity	g.chrX:47435571delC		CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.1117delG	X.37:g.47435571delC	ENSP00000295987:p.Glu373fs					SYN1_ENST00000340666.4_Frame_Shift_Del_p.E373fs	p.E373fs	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN			9	1241	-			373			C; actin-binding and synaptic-vesicle binding.		B1AJQ1|O75825|Q5H9A9	Frame_Shift_Del	DEL	ENST00000295987.7	37	c.1117delG	CCDS14280.1																																																																																				0.562	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056445.1	NM_006950		2	4						2	4	---	---	---	---
SUV39H1	6839	broad.mit.edu	37	X	48558633	48558633	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chrX:48558633delC	ENST00000376687.3	+	3	507	c.317delC	c.(316-318)accfs	p.T106fs	SUV39H1_ENST00000453214.2_Frame_Shift_Del_p.D43fs|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000337852.6_Frame_Shift_Del_p.T117fs	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	106					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						CGGTCAAAGACCCCCCGGCAC	0.627																																						ENST00000376687.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(316-318)acfs		suppressor of variegation 3-9 homolog 1 (Drosophila)							23.0	19.0	21.0					X																	48558633		2197	4293	6490	SO:0001589	frameshift_variant	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48558633delC	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.317delC	X.37:g.48558633delC	ENSP00000365877:p.Thr106fs					SUV39H1_ENST00000337852.6_Frame_Shift_Del_p.T117fs|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Frame_Shift_Del_p.D43fs	p.T106fs	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN			3	507	+			106					B2R6E8|B4DST0|Q53G60|Q6FHK6	Frame_Shift_Del	DEL	ENST00000376687.3	37	c.317delC	CCDS14304.1																																																																																				0.627	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		2	4						2	4	---	---	---	---
