#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
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		3	32	0	0	0	1	0	3	32				
HDLBP	3069	broad.mit.edu	37	2	242176036	242176036	+	Silent	SNP	A	A	C			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:242176036A>C	ENST00000391975.1	-	21	3125	c.2898T>G	c.(2896-2898)gcT>gcG	p.A966A	HDLBP_ENST00000391976.2_Silent_p.A966A|HDLBP_ENST00000310931.4_Silent_p.A966A|HDLBP_ENST00000427183.2_Silent_p.A933A	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	966	KH 11. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATACCTCCAGAGCTTCCTTGG	0.612																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2896-2898)gcT>gcG		high density lipoprotein binding protein							131.0	122.0	125.0					2																	242176036		2203	4300	6503	SO:0001819	synonymous_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242176036A>C		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2898T>G	2.37:g.242176036A>C						HDLBP_ENST00000310931.4_Silent_p.A966A|HDLBP_ENST00000391976.2_Silent_p.A966A|HDLBP_ENST00000427183.2_Silent_p.A933A	p.A966A	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	21	3125	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	966			KH 11.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	c.2898T>G	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	A	9.309	1.055190	0.19907	.	.	ENSG00000115677	ENST00000373292	.	.	.	5.53	-1.5	0.08691	.	.	.	.	.	T	0.39809	0.1092	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26815	-1.0092	4	.	.	.	-39.1124	1.646	0.02762	0.428:0.1021:0.2636:0.2063	.	.	.	.	A	775	.	.	S	-	1	0	HDLBP	241824709	0.001000	0.12720	0.916000	0.36221	0.811000	0.45836	-1.639000	0.02011	-0.176000	0.10707	-0.146000	0.13790	TCT		0.612	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		17	77	0	0	0	1	0	17	77				
FICD	11153	broad.mit.edu	37	12	108912361	108912361	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr12:108912361G>C	ENST00000552695.1	+	3	721	c.486G>C	c.(484-486)ttG>ttC	p.L162F	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	162					negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CGGACTACTTGTACACCAGAG	0.537																																						ENST00000552695.1																			0				NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(484-486)ttG>ttC		FIC domain containing							148.0	114.0	125.0					12																	108912361		2203	4300	6503	SO:0001583	missense	11153				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity	g.chr12:108912361G>C	AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"""huntingtin interacting protein 13"", ""fic S-phase protein cell division homolog (E. coli)"""					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.486G>C	12.37:g.108912361G>C	ENSP00000446479:p.Leu162Phe					FICD_ENST00000361549.2_3'UTR	p.L162F	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN			3	721	+			162					O75406	Missense_Mutation	SNP	ENST00000552695.1	37	c.486G>C	CCDS9116.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614861	0.28712	.	.	ENSG00000198855	ENST00000552695	T	0.77229	-1.08	5.62	-2.26	0.06867	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000001	T	0.63931	0.2553	L	0.50333	1.59	0.80722	D	1	P	0.36249	0.545	B	0.36335	0.222	T	0.50423	-0.8830	10	0.28530	T	0.3	-16.5889	5.9402	0.19189	0.3732:0.2173:0.4095:0.0	.	162	Q9BVA6	FICD_HUMAN	F	162	ENSP00000446479:L162F	ENSP00000446479:L162F	L	+	3	2	FICD	107436491	0.968000	0.33430	0.446000	0.26920	0.576000	0.36127	0.109000	0.15417	-0.301000	0.08882	-0.137000	0.14449	TTG		0.537	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404842.1	NM_007076		5	46	0	0	0	1	0	5	46				
FHOD1	29109	broad.mit.edu	37	16	67264254	67264254	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr16:67264254C>T	ENST00000258201.4	-	19	3261	c.3014G>A	c.(3013-3015)cGt>cAt	p.R1005H		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1005	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTTGCGCTCACGGTATGTGGC	0.592																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(3013-3015)cGt>cAt		formin homology 2 domain containing 1							90.0	84.0	86.0					16																	67264254		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264254C>T	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3014G>A	16.37:g.67264254C>T	ENSP00000258201:p.Arg1005His					FHOD1_ENST00000567687.1_Missense_Mutation_p.R584H	p.R1005H	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	19	3261	-		Ovarian(137;0.0563)	1005			FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.3014G>A	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915416	0.92178	.	.	ENSG00000135723	ENST00000258201	T	0.64438	-0.1	5.33	5.33	0.75918	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (2);	0.000000	0.85682	D	0.000000	T	0.81004	0.4733	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.83377	0.0010	10	0.87932	D	0	.	17.7539	0.88444	0.0:1.0:0.0:0.0	.	1005	Q9Y613	FHOD1_HUMAN	H	1005	ENSP00000258201:R1005H	ENSP00000258201:R1005H	R	-	2	0	FHOD1	65821755	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.461000	0.80834	2.771000	0.95319	0.561000	0.74099	CGT		0.592	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			10	41	0	0	0	1	0	10	41				
SARDH	1757	broad.mit.edu	37	9	136578200	136578200	+	Silent	SNP	C	C	T			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr9:136578200C>T	ENST00000371872.4	-	9	1454	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	SARDH_ENST00000422262.2_Silent_p.E231E|SARDH_ENST00000439388.1_Silent_p.E399E	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	399					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ACCCTCGGAGCTCAGGTGCCT	0.612																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1195-1197)gaG>gaA		sarcosine dehydrogenase							44.0	45.0	45.0					9																	136578200		2203	4300	6503	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136578200C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1197G>A	9.37:g.136578200C>T						SARDH_ENST00000422262.2_Silent_p.E231E|SARDH_ENST00000439388.1_Silent_p.E399E	p.E399E	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	9	1454	-			399					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.1197G>A	CCDS6978.1																																																																																				0.612	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			3	16	0	0	0	1	0	3	16				
MYOZ3	91977	broad.mit.edu	37	5	150050053	150050053	+	Silent	SNP	G	G	A	rs551250073		TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr5:150050053G>A	ENST00000297130.4	+	3	268	c.69G>A	c.(67-69)acG>acA	p.T23T	MYOZ3_ENST00000517768.1_Silent_p.T23T|MYOZ3_ENST00000520112.1_5'Flank|CTC-345K18.2_ENST00000511626.2_RNA	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3											large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTCCCTACGCTGGACCTGG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		17640	0.0		0.001	False		,,,				2504	0.0					ENST00000297130.4																			0				large_intestine(2)|lung(1)|skin(2)	5						c.(67-69)acG>acA		myozenin 3							44.0	36.0	39.0					5																	150050053		2203	4300	6503	SO:0001819	synonymous_variant	91977					sarcomere	protein binding	g.chr5:150050053G>A	AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"""calsarcin 3"", ""FATZ related protein 3"""	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.69G>A	5.37:g.150050053G>A						MYOZ3_ENST00000517768.1_Silent_p.T23T	p.T23T	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	268	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	23						Silent	SNP	ENST00000297130.4	37	c.69G>A	CCDS4309.1																																																																																				0.602	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	NM_001122853		3	31	0	0	0	1	0	3	31				
PHKA2	5256	broad.mit.edu	37	X	18924631	18924631	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chrX:18924631G>A	ENST00000379942.4	-	25	3453	c.2788C>T	c.(2788-2790)Cgg>Tgg	p.R930W		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	930					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTCAGGCTCCGTGCCAGCTCC	0.632													G|||	1	0.000264901	0.0	0.0	3775	,	,		11192	0.0		0.0	False		,,,				2504	0.001					ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(2788-2790)Cgg>Tgg		phosphorylase kinase, alpha 2 (liver)							75.0	65.0	68.0					X																	18924631		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18924631G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2788C>T	X.37:g.18924631G>A	ENSP00000369274:p.Arg930Trp						p.R930W	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			25	3453	-	Hepatocellular(33;0.183)		930					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.2788C>T	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605941	0.46527	.	.	ENSG00000044446	ENST00000379942	D	0.91686	-2.89	5.26	2.17	0.27698	.	0.048891	0.85682	D	0.000000	D	0.95837	0.8645	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.95330	0.8429	10	0.87932	D	0	-14.6446	15.3079	0.74008	0.0:0.0:0.5933:0.4067	.	930	P46019	KPB2_HUMAN	W	930	ENSP00000369274:R930W	ENSP00000369274:R930W	R	-	1	2	PHKA2	18834552	0.998000	0.40836	0.184000	0.23157	0.255000	0.26057	2.753000	0.47524	0.041000	0.15688	0.600000	0.82982	CGG		0.632	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		23	56	0	0	0	1	0	23	56				
PLXNB3	5365	broad.mit.edu	37	X	153043475	153043475	+	Silent	SNP	T	T	C			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chrX:153043475T>C	ENST00000361971.5	+	32	5448	c.5334T>C	c.(5332-5334)aaT>aaC	p.N1778N	SRPK3_ENST00000393786.3_5'Flank|PLXNB3_ENST00000538966.1_Silent_p.N1801N|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538776.1_Silent_p.N1431N|PLXNB3_ENST00000485980.1_3'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1778					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTCGGACAATGTGGACGCCA	0.602																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(5401-5403)aaT>aaC		plexin B3							95.0	73.0	80.0					X																	153043475		2203	4300	6503	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153043475T>C	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5334T>C	X.37:g.153043475T>C						PLXNB3_ENST00000485980.1_3'UTR|PLXNB3_ENST00000361971.5_Silent_p.N1778N|PLXNB3_ENST00000538776.1_Silent_p.N1431N|SRPK3_ENST00000489426.1_5'UTR	p.N1801N	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			33	5674	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1778					B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.5403T>C	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	T	5.988	0.366188	0.11352	.	.	ENSG00000198753	ENST00000448847	.	.	.	5.22	-8.41	0.00961	.	.	.	.	.	T	0.52484	0.1737	.	.	.	0.39448	D	0.967365	.	.	.	.	.	.	T	0.61888	-0.6970	4	.	.	.	.	11.9224	0.52799	0.0863:0.2638:0.0:0.6498	.	.	.	.	T	82	.	.	M	+	2	0	PLXNB3	152696669	0.003000	0.15002	0.009000	0.14445	0.645000	0.38454	-0.977000	0.03782	-2.375000	0.00598	-2.257000	0.00281	ATG		0.602	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			3	36	0	0	0	1	0	3	36				
CIC	23152	broad.mit.edu	37	19	42791872	42791872	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr19:42791872C>T	ENST00000575354.2	+	5	798	c.758C>T	c.(757-759)gCc>gTc	p.A253V	CIC_ENST00000160740.3_Missense_Mutation_p.A253V|CIC_ENST00000572681.2_Missense_Mutation_p.A1162V	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACGACCTGGCCTTCCAGGTA	0.622			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3484-3486)gCc>gTc		capicua transcriptional repressor							73.0	65.0	68.0					19																	42791872		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791872C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.758C>T	19.37:g.42791872C>T	ENSP00000458663:p.Ala253Val					CIC_ENST00000575354.2_Missense_Mutation_p.A253V|CIC_ENST00000160740.3_Missense_Mutation_p.A253V	p.A1162V			Q96RK0	CIC_HUMAN			6	3553	+		Prostate(69;0.00682)	253			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3485C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547466	0.65311	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.87277	0.6137	H	0.97158	3.95	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.91420	0.5158	8	0.87932	D	0	-16.4772	14.5138	0.67807	0.0:1.0:0.0:0.0	.	253	Q96RK0	CIC_HUMAN	V	253	.	ENSP00000160740:A253V	A	+	2	0	CIC	47483712	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.161000	0.77505	2.284000	0.76573	0.555000	0.69702	GCC		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			6	32	0	0	0	1	0	6	32				
SLC4A2	6522	broad.mit.edu	37	7	150761619	150761619	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr7:150761619G>A	ENST00000485713.1	+	4	1264	c.224G>A	c.(223-225)cGc>cAc	p.R75H	SLC4A2_ENST00000392826.2_Missense_Mutation_p.R66H|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R75H|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000461735.1_Missense_Mutation_p.R61H	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	75	Pro-rich.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGACCACCGCCAGTCCTCC	0.682																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(223-225)cGc>cAc		solute carrier family 4 (anion exchanger), member 2							69.0	78.0	75.0					7																	150761619		2202	4298	6500	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150761619G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.224G>A	7.37:g.150761619G>A	ENSP00000419412:p.Arg75His					SLC4A2_ENST00000392826.2_Missense_Mutation_p.R66H|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000461735.1_Missense_Mutation_p.R61H|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R75H	p.R75H	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	1264	+			75			Pro-rich.		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.224G>A	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961773	0.74016	.	.	ENSG00000164889	ENST00000483786;ENST00000485713;ENST00000413384;ENST00000490898;ENST00000482950;ENST00000463414;ENST00000392826;ENST00000461735	T;T;T;T;T;T;T;T	0.80566	-0.43;-1.39;-1.39;0.0;-0.33;-0.45;-1.39;-1.37	4.64	4.64	0.57946	.	0.073483	0.64402	D	0.000010	D	0.88437	0.6436	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.987	D	0.89738	0.3931	10	0.87932	D	0	.	15.0575	0.71925	0.0:0.0:1.0:0.0	.	66;61;75	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	H	75;75;75;75;75;75;66;61	ENSP00000417808:R75H;ENSP00000419412:R75H;ENSP00000405600:R75H;ENSP00000418114:R75H;ENSP00000419379:R75H;ENSP00000418584:R75H;ENSP00000376571:R66H;ENSP00000419164:R61H	ENSP00000376571:R66H	R	+	2	0	SLC4A2	150392552	1.000000	0.71417	0.984000	0.44739	0.978000	0.69477	9.726000	0.98782	2.409000	0.81822	0.460000	0.39030	CGC		0.682	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		4	74	0	0	0	1	0	4	74				
HTRA4	203100	broad.mit.edu	37	8	38839229	38839229	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr8:38839229A>C	ENST00000302495.4	+	6	1157	c.1057A>C	c.(1057-1059)Att>Ctt	p.I353L		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	353	Serine protease.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CTCCTTTGCAATTCCTTCAGA	0.428																																						ENST00000302495.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.(1057-1059)Att>Ctt		HtrA serine peptidase 4							195.0	159.0	171.0					8																	38839229		2203	4300	6503	SO:0001583	missense	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38839229A>C	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.1057A>C	8.37:g.38839229A>C	ENSP00000305919:p.Ile353Leu						p.I353L	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		6	1157	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	353			Serine protease.		Q542Z4|Q6PF13	Missense_Mutation	SNP	ENST00000302495.4	37	c.1057A>C	CCDS6110.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.397209	0.42512	.	.	ENSG00000169495	ENST00000302495	D	0.89552	-2.53	5.3	4.14	0.48551	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.64402	D	0.000001	D	0.86772	0.6013	L	0.58510	1.815	0.51233	D	0.999916	P	0.39157	0.662	B	0.39971	0.315	D	0.85578	0.1238	10	0.87932	D	0	-23.9038	10.3303	0.43818	0.9209:0.0:0.0791:0.0	.	353	P83105	HTRA4_HUMAN	L	353	ENSP00000305919:I353L	ENSP00000305919:I353L	I	+	1	0	HTRA4	38958386	1.000000	0.71417	0.599000	0.28851	0.186000	0.23388	5.897000	0.69831	0.854000	0.35336	-0.411000	0.06167	ATT		0.428	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		6	39	0	0	0	1	0	6	39				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			5	23	0	0	0	1	0	5	23				
SYTL5	94122	broad.mit.edu	37	X	37969646	37969646	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chrX:37969646C>T	ENST00000357972.5	+	13	2053	c.1507C>T	c.(1507-1509)Cgt>Tgt	p.R503C	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.R503C|SYTL5_ENST00000456733.2_Missense_Mutation_p.R525C			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	503	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TCGATTTGGACGTAATAGCTT	0.438																																						ENST00000357972.5																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(1507-1509)Cgt>Tgt		synaptotagmin-like 5							160.0	130.0	140.0					X																	37969646		2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37969646C>T		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1507C>T	X.37:g.37969646C>T	ENSP00000350657:p.Arg503Cys					SYTL5_ENST00000456733.2_Missense_Mutation_p.R525C|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.R503C	p.R503C			Q8TDW5	SYTL5_HUMAN			13	2053	+			503			C2 1.		A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.1507C>T	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242676	0.79912	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.09817	2.94;2.94;2.94	5.79	4.9	0.64082	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.364876	0.34178	N	0.004189	T	0.49490	0.1560	H	0.98218	4.175	0.51767	D	0.999936	D;D	0.89917	1.0;1.0	D;D	0.81914	0.94;0.995	T	0.69243	-0.5196	10	0.87932	D	0	-8.1465	15.3497	0.74373	0.1398:0.8602:0.0:0.0	.	525;503	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	C	503;503;525	ENSP00000297875:R503C;ENSP00000350657:R503C;ENSP00000395220:R525C	ENSP00000297875:R503C	R	+	1	0	SYTL5	37854590	0.876000	0.30132	0.980000	0.43619	0.967000	0.64934	2.850000	0.48294	2.442000	0.82660	0.529000	0.55759	CGT		0.438	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		4	73	0	0	0	1	0	4	73				
ANKRD23	200539	broad.mit.edu	37	2	97506180	97506180	+	Silent	SNP	T	T	A			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:97506180T>A	ENST00000318357.4	-	5	539	c.498A>T	c.(496-498)gcA>gcT	p.A166A	ANKRD23_ENST00000331001.2_Silent_p.A124A|ANKRD23_ENST00000418232.1_Silent_p.A166A|ANKRD23_ENST00000476975.1_5'UTR	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	166					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						CTGTGGCACCTGCCACCAGCA	0.622																																						ENST00000318357.4																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						c.(496-498)gcA>gcT		ankyrin repeat domain 23							36.0	33.0	34.0					2																	97506180		2203	4300	6503	SO:0001819	synonymous_variant	200539					nucleus		g.chr2:97506180T>A		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"""Ankyrin repeat domain containing"""	24470	protein-coding gene	gene with protein product	"""diabetes related ankyrin repeat protein"""	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.498A>T	2.37:g.97506180T>A						ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000418232.1_Silent_p.A166A|ANKRD23_ENST00000331001.2_Silent_p.A124A	p.A166A	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN			5	539	-			166					Q711K7|Q8NAJ7	Silent	SNP	ENST00000318357.4	37	c.498A>T	CCDS2027.1																																																																																				0.622	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		6	20	0	0	0	1	0	6	20				
DENND2C	163259	broad.mit.edu	37	1	115151483	115151483	+	Missense_Mutation	SNP	G	G	A	rs561912187		TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr1:115151483G>A	ENST00000393274.1	-	10	2006	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.R461C|DENND2C_ENST00000393276.3_Missense_Mutation_p.R404C	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	461					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTGCTAAGCGTTTATGGCGA	0.438																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(1381-1383)Cgc>Tgc		DENN/MADD domain containing 2C							132.0	112.0	119.0					1																	115151483		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115151483G>A		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1381C>T	1.37:g.115151483G>A	ENSP00000376955:p.Arg461Cys					DENND2C_ENST00000393276.3_Missense_Mutation_p.R404C|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.R461C	p.R461C	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	2006	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	461					B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.1381C>T	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660918	0.67700	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.16324	3.5;3.08;2.35	5.3	4.35	0.52113	.	0.246713	0.39687	N	0.001289	T	0.28699	0.0711	M	0.79011	2.435	0.58432	D	0.999994	B;D	0.89917	0.368;1.0	B;D	0.85130	0.035;0.997	T	0.03335	-1.1047	10	0.66056	D	0.02	.	6.9252	0.24412	0.0711:0.1266:0.6712:0.1311	.	461;404	Q68D51;Q68D51-3	DEN2C_HUMAN;.	C	404;461;461;461	ENSP00000376957:R404C;ENSP00000376955:R461C;ENSP00000376958:R461C	ENSP00000358553:R461C	R	-	1	0	DENND2C	114953006	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.145000	0.50623	2.486000	0.83907	0.591000	0.81541	CGC		0.438	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		7	21	0	0	0	1	0	7	21				
CNTNAP5	129684	broad.mit.edu	37	2	125204403	125204403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:125204403G>A	ENST00000431078.1	+	6	1171	c.807G>A	c.(805-807)tgG>tgA	p.W269*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	269	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACCAGCACTGGCACTCGGTCC	0.612																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(805-807)tgG>tgA		contactin associated protein-like 5							72.0	77.0	76.0					2																	125204403		2165	4283	6448	SO:0001587	stop_gained	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125204403G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.807G>A	2.37:g.125204403G>A	ENSP00000399013:p.Trp269*						p.W269*	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	6	1171	+			269			Laminin G-like 1.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Nonsense_Mutation	SNP	ENST00000431078.1	37	c.807G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	41	8.896451	0.98994	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.87	5.87	0.94306	.	0.000000	0.48286	D	0.000182	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	.	.	.	X	269	.	ENSP00000399013:W269X	W	+	3	0	CNTNAP5	124920873	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	9.670000	0.98625	2.941000	0.99782	0.655000	0.94253	TGG		0.612	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			3	38	0	0	0	1	0	3	38				
RAD52	5893	broad.mit.edu	37	12	1023236	1023236	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr12:1023236T>G	ENST00000358495.3	-	11	1157	c.1019A>C	c.(1018-1020)gAt>gCt	p.D340A	RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.D263A|RAD52_ENST00000430095.2_Missense_Mutation_p.D340A	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	340					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GACCACACCATCCCCTGCATC	0.507								Homologous recombination																														ENST00000358495.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1018-1020)gAt>gCt	Homologous recombination	RAD52 homolog (S. cerevisiae)							110.0	103.0	105.0					12																	1023236		1953	4141	6094	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1023236T>G		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.1019A>C	12.37:g.1023236T>G	ENSP00000351284:p.Asp340Ala					RAD52_ENST00000430095.2_Missense_Mutation_p.D340A|RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.D263A	p.D340A	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		11	1157	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		340					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	c.1019A>C	CCDS8507.2	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456534	0.63401	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046	T;T;T	0.41400	1.41;1.41;1.0	4.87	4.87	0.63330	.	0.186181	0.56097	D	0.000034	T	0.55955	0.1953	M	0.74258	2.255	0.80722	D	1	D	0.71674	0.998	P	0.57152	0.814	T	0.58267	-0.7666	10	0.45353	T	0.12	-0.2091	11.0329	0.47783	0.0:0.0:0.0:1.0	.	340	P43351	RAD52_HUMAN	A	340;340;263	ENSP00000351284:D340A;ENSP00000387901:D340A;ENSP00000445245:D263A	ENSP00000351284:D340A	D	-	2	0	RAD52	893497	0.424000	0.25490	0.080000	0.20451	0.005000	0.04900	2.354000	0.44098	2.181000	0.69327	0.459000	0.35465	GAT		0.507	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		3	40	0	0	0	1	0	3	40				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	61	0	0	0	1	0	4	61				
APOBEC4	403314	broad.mit.edu	37	1	183617594	183617594	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr1:183617594G>A	ENST00000308641.4	-	2	594	c.323C>T	c.(322-324)gCc>gTc	p.A108V	APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	108					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						ATTGTATATGGCTGAGTCAAG	0.408																																						ENST00000308641.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						c.(322-324)gCc>gTc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)							158.0	155.0	156.0					1																	183617594		2203	4300	6503	SO:0001583	missense	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183617594G>A	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.323C>T	1.37:g.183617594G>A	ENSP00000310622:p.Ala108Val					RGL1_ENST00000367531.1_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000536277.1_Intron	p.A108V	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN			2	594	-			108					Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	c.323C>T	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	G	0.966	-0.701619	0.03255	.	.	ENSG00000173627	ENST00000308641	T	0.63913	-0.07	5.28	2.61	0.31194	APOBEC-like, N-terminal (1);	0.555606	0.15624	N	0.252745	T	0.30759	0.0775	N	0.04880	-0.145	0.09310	N	1	B	0.17465	0.022	B	0.17433	0.018	T	0.30238	-0.9985	10	0.02654	T	1	-18.2894	5.028	0.14395	0.6119:0.0:0.3881:0.0	.	108	Q8WW27	ABEC4_HUMAN	V	108	ENSP00000310622:A108V	ENSP00000310622:A108V	A	-	2	0	APOBEC4	181884217	0.011000	0.17503	0.007000	0.13788	0.321000	0.28281	2.018000	0.40991	0.887000	0.36136	0.655000	0.94253	GCC		0.408	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		7	50	0	0	0	1	0	7	50				
SYNE1	23345	broad.mit.edu	37	6	152730807	152730807	+	Missense_Mutation	SNP	C	C	G	rs374482089		TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr6:152730807C>G	ENST00000367255.5	-	43	6869	c.6268G>C	c.(6268-6270)Gaa>Caa	p.E2090Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.E2097Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2127Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2090Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2097Q|RNA5SP223_ENST00000365174.1_RNA	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2090					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTGATATTCTCTCATTAAG	0.368										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(6268-6270)Gaa>Caa		spectrin repeat containing, nuclear envelope 1		C	GLN/GLU,GLN/GLU	0,4406		0,0,2203	98.0	96.0	96.0		6268,6289	5.9	1.0	6		96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SYNE1	NM_182961.3,NM_033071.3	29,29	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign,benign	2090/8798,2097/8750	152730807	1,13005	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152730807C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6268G>C	6.37:g.152730807C>G	ENSP00000356224:p.Glu2090Gln	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.E2097Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2097Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2127Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2090Q	p.E2090Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	43	6869	-		Ovarian(120;0.0955)	2090					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.6268G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658164	0.47467	0.0	1.16E-4	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.92	5.92	0.95590	.	0.192526	0.36134	N	0.002765	T	0.18841	0.0452	L	0.59436	1.845	0.80722	D	1	P;B;B;B	0.38250	0.624;0.011;0.023;0.019	B;B;B;B	0.39706	0.307;0.005;0.008;0.011	T	0.02244	-1.1189	10	0.12430	T	0.62	.	14.4744	0.67537	0.0:0.9305:0.0:0.0695	.	2073;2090;2090;2097	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	2090;2097;2090;2097;2127	ENSP00000356224:E2090Q;ENSP00000396024:E2097Q;ENSP00000265368:E2090Q;ENSP00000390975:E2097Q;ENSP00000341887:E2127Q	ENSP00000265368:E2090Q	E	-	1	0	SYNE1	152772500	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.922000	0.63404	2.822000	0.97130	0.650000	0.86243	GAA		0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		5	24	0	0	0	1	0	5	24				
PMS2CL	441194	broad.mit.edu	37	7	6776906	6776906	+	RNA	SNP	A	A	G	rs7804416	byFrequency	TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr7:6776906A>G	ENST00000486256.1	+	0	1033					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		GCCCTCTAGGACAGAAAAGGG	0.517													A|||	608	0.121406	0.3328	0.0692	5008	,	,		16449	0.005		0.0308	False		,,,				2504	0.0859					ENST00000486256.1																			0																																																			0							g.chr7:6776906A>G	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6776906A>G								NR_002217.1						0	1033	+								B4DK88|Q764P1	RNA	SNP	ENST00000486256.1	37																																																																																						0.517	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		3	34	0	0	0	1	0	3	34				
CCT6P3	643180	broad.mit.edu	37	7	64498737	64498737	+	RNA	SNP	C	C	A			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr7:64498737C>A	ENST00000426828.1	+	0	0					NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		gaggcggtggcggcggcggca	0.786																																						ENST00000426828.1																			0																																																			0							g.chr7:64498737C>A			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64498737C>A								NR_033416.1						0	0	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.786	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			3	4	1	0	6.4e-05	1	6.4e-05	3	4				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			4	56	0	0	0	1	0	4	56				
KEL	3792	broad.mit.edu	37	7	142636704	142636704	+	IGR	SNP	T	T	C	rs11977017	byFrequency	TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr7:142636704T>C	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Missense_Mutation_p.W21R	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCAAAGGCAGTGGGTGGGCAG	0.642													C|||	978	0.195288	0.59	0.0922	5008	,	,		18298	0.0377		0.0885	False		,,,				2504	0.0072					ENST00000409607.3																			0				large_intestine(1)|lung(4)	5						c.(61-63)Tgg>Cgg		chromosome 7 open reading frame 34		C	ARG/TRP	2275,2131	593.3+/-388.0	599,1077,527	43.0	46.0	45.0		61	-7.9	0.0	7	dbSNP_120	45	681,7919	168.6+/-220.1	25,631,3644	yes	missense	C7orf34	NM_178829.4	101	624,1708,4171	CC,CT,TT		7.9186,48.3659,22.728		21/148	142636704	2956,10050	2203	4300	6503	SO:0001628	intergenic_variant	135927					extracellular region		g.chr7:142636704T>C	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159		7.37:g.142636704T>C							p.W21R	NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN			1	102	+	Melanoma(164;0.059)		0					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.61T>C	CCDS34766.1	371	0.16987179487179488	260	0.5284552845528455	33	0.09116022099447514	17	0.02972027972027972	61	0.08047493403693931	t	0.012	-1.682788	0.00745	0.516341	0.079186	ENSG00000165131	ENST00000409607	.	.	.	3.97	-7.94	0.01152	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.40794	-0.9544	4	0.06625	T	0.88	.	1.3385	0.02150	0.2249:0.369:0.2241:0.182	rs11977017	.	.	.	R	21	.	ENSP00000386450:W21R	W	+	1	0	C7orf34	142346826	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.171000	0.00281	-2.282000	0.00673	-1.847000	0.00572	TGG		0.642	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		3	38	0	0	0	1	0	3	38				
HSPA4L	22824	broad.mit.edu	37	4	128753891	128753891	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr4:128753891A>C	ENST00000296464.4	+	19	2793	c.2382A>C	c.(2380-2382)gaA>gaC	p.E794D	HSPA4L_ENST00000505726.1_Missense_Mutation_p.E768D|HSPA4L_ENST00000508776.1_Missense_Mutation_p.E794D|HSPA4L_ENST00000439123.2_Missense_Mutation_p.E825D	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	794					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CAAAAGCAGAAGTTCCTGAAG	0.368																																						ENST00000296464.3																			0				central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(2380-2382)gaA>gaC		heat shock 70kDa protein 4-like							122.0	118.0	120.0					4																	128753891		2203	4300	6503	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128753891A>C	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.2382A>C	4.37:g.128753891A>C	ENSP00000296464:p.Glu794Asp					HSPA4L_ENST00000505726.1_Missense_Mutation_p.E768D|HSPA4L_ENST00000508776.1_Missense_Mutation_p.E794D|HSPA4L_ENST00000439123.2_Missense_Mutation_p.E825D	p.E794D	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN			19	2793	+			794					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.2382A>C	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359776	0.24598	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000505726	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	4.85	-0.876	0.10624	.	0.051924	0.85682	D	0.000000	T	0.19765	0.0475	L	0.48986	1.54	0.40979	D	0.984767	B;D	0.64830	0.131;0.994	B;D	0.70716	0.082;0.97	T	0.19451	-1.0305	10	0.36615	T	0.2	.	1.8994	0.03264	0.4564:0.1225:0.285:0.1361	.	768;794	E9PDE8;O95757	.;HS74L_HUMAN	D	794;825;794;768	ENSP00000422482:E794D;ENSP00000393926:E825D;ENSP00000296464:E794D;ENSP00000425645:E768D	ENSP00000296464:E794D	E	+	3	2	HSPA4L	128973341	0.993000	0.37304	0.986000	0.45419	0.814000	0.46013	0.761000	0.26489	-0.090000	0.12462	-0.321000	0.08615	GAA		0.368	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		7	30	0	0	0	1	0	7	30				
U2AF2	11338	broad.mit.edu	37	19	56180480	56180480	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr19:56180480G>T	ENST00000308924.4	+	10	1017	c.977G>T	c.(976-978)gGg>gTg	p.G326V	CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.13_ENST00000592252.1_RNA|U2AF2_ENST00000450554.2_Missense_Mutation_p.G326V|U2AF2_ENST00000590551.1_Missense_Mutation_p.G162V|CTD-2537I9.12_ENST00000585940.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	326	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		ATGCAGCTGGGGGATAAGAAG	0.657																																						ENST00000450554.2																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.(976-978)gGg>gTg		U2 small nuclear RNA auxiliary factor 2							39.0	40.0	40.0					19																	56180480		2203	4300	6503	SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56180480G>T	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.977G>T	19.37:g.56180480G>T	ENSP00000307863:p.Gly326Val					U2AF2_ENST00000308924.4_Missense_Mutation_p.G326V|U2AF2_ENST00000590551.1_Missense_Mutation_p.G162V|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA	p.G326V	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	10	1936	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	326			RRM 2.		Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.977G>T	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393489	0.83011	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.18338	2.22;2.22	3.63	3.63	0.41609	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	M	0.91140	3.18	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.72982	0.979;0.964	T	0.63514	-0.6620	10	0.87932	D	0	-32.1978	14.6193	0.68572	0.0:0.0:1.0:0.0	.	326;326	P26368;P26368-2	U2AF2_HUMAN;.	V	326	ENSP00000307863:G326V;ENSP00000388475:G326V	ENSP00000307863:G326V	G	+	2	0	U2AF2	60872292	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.850000	0.75420	2.054000	0.61138	0.591000	0.81541	GGG		0.657	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		4	32	1	0	1.23904e-05	1	1.27659e-05	4	32				
MALAT1	378938	broad.mit.edu	37	11	65269165	65269166	+	lincRNA	INS	-	-	G			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr11:65269165_65269166insG	ENST00000534336.1	+	0	3933_3934					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TCCTTGGAAGAGTATTCCCAGT	0.455																																						ENST00000534336.1																			0																																																			0							g.chr11:65269165_65269166insG	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269166_65269166dupG								NR_002819.2						0	3933_3934	+									RNA	INS	ENST00000534336.1	37																																																																																						0.455	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		9	33						9	33	---	---	---	---
