#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
MT-ND5	4540	broad.mit.edu	37	M	13336	13336	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrM:13336T>C	ENST00000361567.2	+	1	1000	c.1000T>C	c.(1000-1002)Ttc>Ctc	p.F334L	MT-TP_ENST00000387461.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	334					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						GTACCCACGCCTTCTTCAAAG	0.423																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1000-1002)Ttc>Ctc		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13336T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1000T>C	M.37:g.13336T>C	ENSP00000354813:p.Phe334Leu						p.F334L			P03915	NU5M_HUMAN			1	1000	+			334					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.1000T>C																																																																																					0.423	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		25	67	0	0	0	1	0	25	67				
FUCA1	2517	broad.mit.edu	37	1	24186288	24186288	+	Splice_Site	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr1:24186288C>T	ENST00000374479.3	-	4	775	c.768G>A	c.(766-768)aaG>aaA	p.K256K		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	256					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		AATCACATACCTTGACAGGGC	0.413																																						ENST00000374479.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8						c.e4+1		fucosidase, alpha-L- 1, tissue							83.0	79.0	80.0					1																	24186288		2203	4300	6503	SO:0001630	splice_region_variant	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24186288C>T	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.768+1G>A	1.37:g.24186288C>T							p.K256_splice	NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	4	775	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	256					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Splice_Site	SNP	ENST00000374479.3	37	c.768_splice	CCDS244.2																																																																																				0.413	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147	Silent	8	27	0	0	0	1	0	8	27				
HIATL1	84641	broad.mit.edu	37	9	97218544	97218544	+	Missense_Mutation	SNP	G	G	A	rs201761715		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr9:97218544G>A	ENST00000375344.3	+	10	1320	c.1051G>A	c.(1051-1053)Gtg>Atg	p.V351M	HIATL1_ENST00000428393.2_Intron	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	351					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				AGCAGGGACCGTGGCTGCCAT	0.562																																					Pancreas(77;1260 1915 1973 10423)	ENST00000375344.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11						c.(1051-1053)Gtg>Atg		hippocampus abundant transcript-like 1							107.0	82.0	91.0					9																	97218544		2203	4300	6503	SO:0001583	missense	84641				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity	g.chr9:97218544G>A	AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.1051G>A	9.37:g.97218544G>A	ENSP00000364493:p.Val351Met					HIATL1_ENST00000428393.2_Intron	p.V351M	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN			10	1320	+		Acute lymphoblastic leukemia(62;0.136)	351					B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Missense_Mutation	SNP	ENST00000375344.3	37	c.1051G>A	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405282	0.83230	.	.	ENSG00000148110	ENST00000375344;ENST00000277183	D	0.82081	-1.57	5.05	5.05	0.67936	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.53938	D	0.000041	T	0.80014	0.4546	L	0.41573	1.285	0.80722	D	1	P	0.51791	0.948	P	0.45195	0.473	T	0.81364	-0.0966	10	0.49607	T	0.09	-8.3655	16.2969	0.82781	0.0:0.0:1.0:0.0	.	351	Q5SR56	HIAL1_HUMAN	M	351;56	ENSP00000364493:V351M	ENSP00000277183:V56M	V	+	1	0	HIATL1	96258365	1.000000	0.71417	0.991000	0.47740	0.954000	0.61252	5.178000	0.65037	2.804000	0.96469	0.655000	0.94253	GTG		0.562	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		29	25	0	0	0	1	0	29	25				
TAZ	6901	broad.mit.edu	37	X	153649045	153649045	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:153649045G>C	ENST00000350743.4	+	9	947	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	TAZ_ENST00000475699.1_Missense_Mutation_p.E223Q|TAZ_ENST00000299328.5_Missense_Mutation_p.E250Q|TAZ_ENST00000369776.4_Missense_Mutation_p.E220Q|TAZ_ENST00000369790.4_Missense_Mutation_p.E206Q|TAZ_ENST00000351413.4_Missense_Mutation_p.E236Q|TAZ_ENST00000498029.1_3'UTR	NM_181311.2	NP_851828.1	Q9GZV5	WWTR1_HUMAN	tafazzin	0	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCTGTACTCGAGCGGCTCCG	0.647																																						ENST00000299328.5																			0				lung(1)	1						c.(748-750)Gag>Cag		tafazzin							71.0	67.0	68.0					X																	153649045		2203	4300	6503	SO:0001583	missense	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153649045G>C	X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"""Barth syndrome"""	300394	"""endocardial fibroelastosis 2"", ""cardiomyopathy, dilated 3A (X-linked)"""	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000350743.4:c.658G>C	X.37:g.153649045G>C	ENSP00000338891:p.Glu220Gln					TAZ_ENST00000351413.4_Missense_Mutation_p.E236Q|TAZ_ENST00000369790.4_Missense_Mutation_p.E206Q|TAZ_ENST00000350743.4_Missense_Mutation_p.E220Q|TAZ_ENST00000369776.4_Missense_Mutation_p.E220Q|TAZ_ENST00000498029.1_3'UTR	p.E250Q	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN			10	1037	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		250					D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000350743.4	37	c.748G>C	CCDS14749.1	.	.	.	.	.	.	.	.	.	.	G	9.977	1.227210	0.22542	.	.	ENSG00000102125	ENST00000369790;ENST00000299328;ENST00000350743;ENST00000351413;ENST00000369776;ENST00000475699	D;D;D;D;D;D	0.99051	-5.32;-5.35;-5.37;-5.34;-5.0;-5.21	4.79	3.93	0.45458	.	0.261168	0.36893	N	0.002351	D	0.98235	0.9416	L	0.43152	1.355	0.34595	D	0.715935	P;P;P;P;B;D	0.76494	0.582;0.643;0.493;0.73;0.438;0.999	B;B;B;B;B;D	0.79108	0.241;0.382;0.183;0.223;0.232;0.992	D	0.97447	1.0025	10	0.16896	T	0.51	-2.2207	7.0554	0.25095	0.2129:0.0:0.7871:0.0	.	254;220;206;220;236;250	A6XNE1;Q96F92;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;.;TAZ_HUMAN	Q	206;250;220;236;220;223	ENSP00000358805:E206Q;ENSP00000299328:E250Q;ENSP00000338891:E220Q;ENSP00000218246:E236Q;ENSP00000358791:E220Q;ENSP00000419854:E223Q	ENSP00000299328:E250Q	E	+	1	0	TAZ	153302239	1.000000	0.71417	0.803000	0.32268	0.254000	0.26022	5.633000	0.67825	0.839000	0.34971	0.525000	0.51046	GAG		0.647	TAZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080939.1			20	81	0	0	0	1	0	20	81				
DNASE1	1773	broad.mit.edu	37	16	3707025	3707025	+	Silent	SNP	C	C	T	rs372063579		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr16:3707025C>T	ENST00000246949.5	+	6	3671	c.462C>T	c.(460-462)ccC>ccT	p.P154P	DNASE1_ENST00000407479.1_Silent_p.P154P|DNASE1_ENST00000414110.2_Intron	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	154			P -> A (in allele DNASE1*3; dbSNP:rs1799891).		apoptotic process (GO:0006915)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	deoxyribonuclease I activity (GO:0004530)			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)		CCATTGTTCCCCTGCATGCGG	0.602																																						ENST00000246949.5																			0				lung(1)	1						c.(460-462)ccC>ccT		deoxyribonuclease I	Dornase Alfa(DB00003)	C		2,4392		0,2,2195	50.0	45.0	47.0		462	1.5	1.0	16		47	0,8600		0,0,4300	no	coding-synonymous	DNASE1	NM_005223.3		0,2,6495	TT,TC,CC		0.0,0.0455,0.0154		154/283	3707025	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	1773				apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity	g.chr16:3707025C>T		CCDS10507.1	16p13.3	2008-02-05			ENSG00000213918	ENSG00000213918	3.1.21.1		2956	protein-coding gene	gene with protein product		125505		DNL1		2349940	Standard	XM_005255148		Approved		uc002cvr.3	P24855	OTTHUMG00000129426	ENST00000246949.5:c.462C>T	16.37:g.3707025C>T						DNASE1_ENST00000414110.2_Intron|DNASE1_ENST00000407479.1_Silent_p.P154P	p.P154P	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN		Kidney(780;0.0556)	6	3671	+		Ovarian(90;0.0261)	154		P -> A (in allele DNASE1*3; dbSNP:rs1799891).			B4DV35|Q14UU9|Q14UV0	Silent	SNP	ENST00000246949.5	37	c.462C>T	CCDS10507.1																																																																																				0.602	DNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251585.2			6	33	0	0	0	1	0	6	33				
SCN10A	6336	broad.mit.edu	37	3	38738892	38738892	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr3:38738892A>G	ENST00000449082.2	-	27	5818	c.5819T>C	c.(5818-5820)aTa>aCa	p.I1940T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1940					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTCATTTTGTATTGAGCTAGA	0.478																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(5818-5820)aTa>aCa		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						153.0	133.0	140.0					3																	38738892		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38738892A>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.5819T>C	3.37:g.38738892A>G	ENSP00000390600:p.Ile1940Thr						p.I1940T	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	5818	-			1940					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.5819T>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	0.672	-0.801466	0.02841	.	.	ENSG00000185313	ENST00000449082	D	0.95342	-3.68	5.38	3.0	0.34707	.	1.005880	0.08000	N	0.988603	D	0.84929	0.5581	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.18871	0.023	T	0.74372	-0.3687	10	0.20046	T	0.44	.	3.3436	0.07127	0.6438:0.1461:0.082:0.1282	.	1940	Q9Y5Y9	SCNAA_HUMAN	T	1940	ENSP00000390600:I1940T	ENSP00000390600:I1940T	I	-	2	0	SCN10A	38713896	0.000000	0.05858	0.029000	0.17559	0.979000	0.70002	0.724000	0.25954	1.068000	0.40764	0.533000	0.62120	ATA		0.478	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		24	64	0	0	0	1	0	24	64				
SHROOM4	57477	broad.mit.edu	37	X	50351176	50351176	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:50351176G>A	ENST00000289292.7	-	6	3249	c.2966C>T	c.(2965-2967)gCt>gTt	p.A989V	SHROOM4_ENST00000376020.2_Missense_Mutation_p.A989V|SHROOM4_ENST00000460112.3_Missense_Mutation_p.A873V			Q9ULL8	SHRM4_HUMAN	shroom family member 4	989					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTTGGAATGAGCCATTTCCCT	0.408																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(2965-2967)gCt>gTt		shroom family member 4							41.0	39.0	40.0					X																	50351176		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50351176G>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2966C>T	X.37:g.50351176G>A	ENSP00000289292:p.Ala989Val					SHROOM4_ENST00000289292.7_Missense_Mutation_p.A989V|SHROOM4_ENST00000460112.3_Missense_Mutation_p.A873V	p.A989V	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	2991	-	Ovarian(276;0.236)		989					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.2966C>T	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890225	0.52014	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.14391	2.93;2.93;2.51	5.64	5.64	0.86602	.	0.660669	0.14429	N	0.320141	T	0.20577	0.0495	L	0.34521	1.04	0.30167	N	0.801682	D	0.55172	0.97	P	0.54346	0.749	T	0.03630	-1.1018	10	0.66056	D	0.02	.	11.7356	0.51763	0.0:0.1731:0.8269:0.0	.	989	Q9ULL8	SHRM4_HUMAN	V	989;989;873	ENSP00000289292:A989V;ENSP00000365188:A989V;ENSP00000421450:A873V	ENSP00000289292:A989V	A	-	2	0	SHROOM4	50367916	0.993000	0.37304	1.000000	0.80357	0.955000	0.61496	2.303000	0.43646	2.361000	0.80049	0.600000	0.82982	GCT		0.408	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		10	13	0	0	0	1	0	10	13				
TTN	7273	broad.mit.edu	37	2	179478877	179478877	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr2:179478877A>T	ENST00000591111.1	-	212	44548	c.44324T>A	c.(44323-44325)aTc>aAc	p.I14775N	TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Missense_Mutation_p.I7543N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I13848N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I7476N|TTN_ENST00000460472.2_Missense_Mutation_p.I7351N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I16416N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14775	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTATTGGGGATTAATTTGGT	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(49246-49248)aTc>aAc		titin							160.0	150.0	153.0					2																	179478877		1913	4129	6042	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179478877A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44324T>A	2.37:g.179478877A>T	ENSP00000465570:p.Ile14775Asn					TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I13848N|TTN_ENST00000342175.6_Missense_Mutation_p.I7543N|TTN_ENST00000591111.1_Missense_Mutation_p.I14775N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I7476N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I7351N|TTN-AS1_ENST00000456053.1_RNA	p.I16416N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		262	49471	-			14775			Ig-like 100.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.49247T>A		.	.	.	.	.	.	.	.	.	.	A	9.213	1.031351	0.19590	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	6.07	-2.13	0.07144	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42630	0.1211	L	0.38692	1.165	0.18873	N	0.999984	B;B;B;B	0.21381	0.055;0.055;0.055;0.055	B;B;B;B	0.21546	0.018;0.018;0.035;0.035	T	0.44832	-0.9302	9	0.87932	D	0	.	13.3447	0.60566	0.4058:0.0:0.5942:0.0	.	7351;7476;7543;14775	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	13848;7351;7543;7476;7351	ENSP00000343764:I13848N;ENSP00000434586:I7351N;ENSP00000340554:I7543N;ENSP00000352154:I7476N	ENSP00000340554:I7543N	I	-	2	0	TTN	179187122	0.737000	0.28175	0.870000	0.34147	0.831000	0.47069	0.464000	0.21988	-0.301000	0.08882	-0.250000	0.11733	ATC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	8	0	0	0	1	0	8	8				
CHD2	1106	broad.mit.edu	37	15	93524635	93524635	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr15:93524635G>T	ENST00000394196.4	+	24	4082	c.3014G>T	c.(3013-3015)aGa>aTa	p.R1005I	CHD2_ENST00000557381.1_Missense_Mutation_p.R1005I	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1005	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GCTGAAACGAGAGAGAATGAA	0.373																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(3013-3015)aGa>aTa		chromodomain helicase DNA binding protein 2							146.0	138.0	141.0					15																	93524635		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93524635G>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3014G>T	15.37:g.93524635G>T	ENSP00000377747:p.Arg1005Ile					CHD2_ENST00000557381.1_Missense_Mutation_p.R1005I	p.R1005I	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		24	4082	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1005			Glu-rich.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.3014G>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878122	0.91664	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.02421	4.3;4.3	4.87	4.87	0.63330	.	0.000000	0.34879	U	0.003608	T	0.13543	0.0328	M	0.62016	1.91	0.80722	D	1	P;D	0.65815	0.813;0.995	P;D	0.69654	0.5;0.965	T	0.00370	-1.1783	10	0.87932	D	0	-24.4715	18.3972	0.90502	0.0:0.0:1.0:0.0	.	1005;1005	O14647;O14647-2	CHD2_HUMAN;.	I	1005	ENSP00000377747:R1005I;ENSP00000451366:R1005I	ENSP00000377747:R1005I	R	+	2	0	CHD2	91325639	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.206000	0.95056	2.408000	0.81797	0.655000	0.94253	AGA		0.373	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		3	10	1	0	1	1	1	3	10				
C2orf16	84226	broad.mit.edu	37	2	27799908	27799908	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr2:27799908G>A	ENST00000408964.2	+	1	520	c.469G>A	c.(469-471)Gcc>Acc	p.A157T		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	157						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AATTTATCACGCCACAGAATC	0.403																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(469-471)Gcc>Acc		chromosome 2 open reading frame 16							75.0	70.0	71.0					2																	27799908		1877	4109	5986	SO:0001583	missense	84226							g.chr2:27799908G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.469G>A	2.37:g.27799908G>A	ENSP00000386190:p.Ala157Thr						p.A157T	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	520	+	Acute lymphoblastic leukemia(172;0.155)		157					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.469G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	8.377	0.836543	0.16891	.	.	ENSG00000221843	ENST00000408964	T	0.05382	3.45	3.81	-2.05	0.07321	.	.	.	.	.	T	0.02688	0.0081	N	0.14661	0.345	0.09310	N	1	B	0.24618	0.107	B	0.11329	0.006	T	0.47799	-0.9089	9	0.12766	T	0.61	.	3.7031	0.08390	0.5208:0.0:0.2955:0.1837	.	157	Q68DN1	CB016_HUMAN	T	157	ENSP00000386190:A157T	ENSP00000386190:A157T	A	+	1	0	C2orf16	27653412	.	.	0.000000	0.03702	0.083000	0.17756	.	.	-0.288000	0.09051	0.563000	0.77884	GCC		0.403	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		14	63	0	0	0	1	0	14	63				
PCDHB11	56125	broad.mit.edu	37	5	140580929	140580929	+	Missense_Mutation	SNP	G	G	T	rs566964968		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr5:140580929G>T	ENST00000354757.3	+	1	1582	c.1582G>T	c.(1582-1584)Gac>Tac	p.D528Y	PCDHB11_ENST00000536699.1_Missense_Mutation_p.D163Y	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		D -> E (in dbSNP:rs799834).		calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCTTTCGACTTCCGCGT	0.677																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(1582-1584)Gac>Tac									59.0	77.0	71.0					5																	140580929		2202	4300	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580929G>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1582G>T	5.37:g.140580929G>T	ENSP00000346802:p.Asp528Tyr					PCDHB11_ENST00000536699.1_Missense_Mutation_p.D163Y	p.D528Y	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1582	+			528		D -> E (in dbSNP:rs799834).	Cadherin 5.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1582G>T	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	g	13.08	2.129574	0.37630	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.01787	4.64;4.64	2.51	0.272	0.15645	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.03136	0.0092	N	0.17379	0.485	0.09310	N	1	P	0.36874	0.572	P	0.55112	0.769	T	0.50898	-0.8773	9	0.87932	D	0	.	7.1263	0.25473	0.11:0.3273:0.5627:0.0	.	528	Q9Y5F2	PCDBB_HUMAN	Y	163;528	ENSP00000440344:D163Y;ENSP00000346802:D528Y	ENSP00000346802:D528Y	D	+	1	0	PCDHB11	140561113	0.000000	0.05858	0.011000	0.14972	0.087000	0.18053	-0.730000	0.04915	0.370000	0.24538	0.298000	0.19748	GAC		0.677	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		6	198	1	0	1.12685e-05	1	1.17926e-05	6	198				
FAM188B	84182	broad.mit.edu	37	7	30921881	30921881	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:30921881C>T	ENST00000265299.6	+	16	2134	c.2057C>T	c.(2056-2058)cCg>cTg	p.P686L	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_Missense_Mutation_p.P32L|AQP1_ENST00000509504.1_Missense_Mutation_p.P149L	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	686										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCTGCAGCCGGGGCTCCTG	0.592																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2056-2058)cCg>cTg		family with sequence similarity 188, member B							64.0	68.0	67.0					7																	30921881		1948	4142	6090	SO:0001583	missense	84182							g.chr7:30921881C>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.2057C>T	7.37:g.30921881C>T	ENSP00000265299:p.Pro686Leu					INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.P149L|AQP1_ENST00000434909.2_Missense_Mutation_p.P32L	p.P686L	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			16	2134	+			686					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.2057C>T	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	C	8.660	0.900347	0.17686	.	.	ENSG00000106125;ENSG00000106125;ENSG00000240583;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000434909;ENST00000509504	T;T;T	0.30714	1.52;1.52;1.52	5.38	-6.64	0.01801	.	0.995408	0.08152	N	0.989938	T	0.18425	0.0442	L	0.42744	1.35	0.20074	N	0.999938	B;B;B	0.24426	0.001;0.103;0.026	B;B;B	0.19946	0.001;0.027;0.011	T	0.37911	-0.9685	10	0.87932	D	0	-0.3424	1.65	0.02769	0.1989:0.173:0.153:0.4751	.	32;206;686	B4E220;B8ZZX1;Q4G0A6	.;.;F188B_HUMAN	L	686;206;32;149	ENSP00000265299:P686L;ENSP00000395059:P32L;ENSP00000421315:P149L	ENSP00000265299:P686L	P	+	2	0	RP5-877J2.1;FAM188B;AQP1	30888406	0.027000	0.19231	0.003000	0.11579	0.269000	0.26545	0.327000	0.19663	-0.954000	0.03640	-1.047000	0.02352	CCG		0.592	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		33	40	0	0	0	1	0	33	40				
PPP2R1A	5518	broad.mit.edu	37	19	52716212	52716212	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:52716212C>T	ENST00000322088.6	+	6	714	c.656C>T	c.(655-657)tCg>tTg	p.S219L	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S40L|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S164L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	219	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCCTAGGACTCGGTGCGGCTG	0.647			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(655-657)tCg>tTg		protein phosphatase 2, regulatory subunit A, alpha							40.0	39.0	39.0					19																	52716212		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52716212C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.656C>T	19.37:g.52716212C>T	ENSP00000324804:p.Ser219Leu					PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S40L|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S164L	p.S219L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	6	714	+			219			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.656C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974548	0.92919	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.05580	3.42;3.42	4.59	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.51477	D	0.000081	T	0.32645	0.0836	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;P;P	0.66602	0.945;0.608;0.608	T	0.43556	-0.9384	10	0.87932	D	0	-12.1764	15.3348	0.74244	0.0:1.0:0.0:0.0	.	164;219;219	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	L	209;139;219;164	ENSP00000324804:S219L;ENSP00000415067:S164L	ENSP00000324804:S219L	S	+	2	0	PPP2R1A	57408024	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	4.989000	0.63870	2.550000	0.86006	0.655000	0.94253	TCG		0.647	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		130	38	0	0	0	1	0	130	38				
PCDHB10	56126	broad.mit.edu	37	5	140573707	140573707	+	Nonsense_Mutation	SNP	G	G	T	rs17844576		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr5:140573707G>T	ENST00000239446.4	+	1	1766	c.1582G>T	c.(1582-1584)Gag>Tag	p.E528*		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCTTTCGAGTTCCGCGT	0.692																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1582-1584)Gag>Tag									78.0	96.0	90.0					5																	140573707		2203	4300	6503	SO:0001587	stop_gained	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573707G>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1582G>T	5.37:g.140573707G>T	ENSP00000239446:p.Glu528*						p.E528*	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1766	+			528			Cadherin 5.		Q96T99	Nonsense_Mutation	SNP	ENST00000239446.4	37	c.1582G>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	37	6.056170	0.97241	.	.	ENSG00000120324	ENST00000239446	.	.	.	3.53	2.56	0.30785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.4831	0.11776	0.1629:0.4101:0.427:0.0	.	.	.	.	X	528	.	ENSP00000239446:E528X	E	+	1	0	PCDHB10	140553891	0.000000	0.05858	0.998000	0.56505	0.965000	0.64279	-0.464000	0.06688	1.994000	0.58287	0.549000	0.68633	GAG		0.692	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		21	328	1	0	1.55795e-14	1	1.75269e-14	21	328				
RASGRP4	115727	broad.mit.edu	37	19	38910572	38910572	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:38910572G>T	ENST00000587738.1	-	6	661	c.591C>A	c.(589-591)ttC>ttA	p.F197L	RASGRP4_ENST00000293062.9_Missense_Mutation_p.F197L|RASGRP4_ENST00000454404.2_Missense_Mutation_p.F197L|RASGRP4_ENST00000433821.2_Missense_Mutation_p.F197L|RASGRP4_ENST00000587753.1_Missense_Mutation_p.F197L|RASGRP4_ENST00000586305.1_Missense_Mutation_p.F183L|RASGRP4_ENST00000426920.2_Missense_Mutation_p.F197L			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	197					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAAGTGGTCGAAAAGCAAGG	0.652																																						ENST00000454404.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23						c.(589-591)ttC>ttA		RAS guanyl releasing protein 4							37.0	38.0	37.0					19																	38910572		1933	4120	6053	SO:0001583	missense	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38910572G>T	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.591C>A	19.37:g.38910572G>T	ENSP00000465772:p.Phe197Leu					RASGRP4_ENST00000587753.1_Missense_Mutation_p.F197L|RASGRP4_ENST00000426920.2_Missense_Mutation_p.F197L|RASGRP4_ENST00000293062.9_Missense_Mutation_p.F197L|RASGRP4_ENST00000433821.2_Missense_Mutation_p.F197L|RASGRP4_ENST00000587738.1_Missense_Mutation_p.F197L|RASGRP4_ENST00000586305.1_Missense_Mutation_p.F183L	p.F197L	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		6	804	-	all_cancers(60;4.21e-06)		197					A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.591C>A	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365603	0.61513	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	4.78	-4.42	0.03579	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.052824	0.85682	N	0.000000	T	0.42539	0.1207	M	0.80183	2.485	0.47511	D	0.999448	P;B;D;D;D;D;D	0.89917	0.475;0.309;1.0;0.999;1.0;1.0;0.999	B;B;D;D;D;D;D	0.97110	0.15;0.086;1.0;0.984;1.0;1.0;0.984	T	0.45934	-0.9227	10	0.87932	D	0	-22.9049	7.0755	0.25201	0.6246:0.1423:0.2331:0.0	.	197;197;197;197;197;183;197	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	L	197	ENSP00000411878:F197L;ENSP00000293062:F197L;ENSP00000445966:F197L;ENSP00000416463:F197L	ENSP00000293062:F197L	F	-	3	2	RASGRP4	43602412	0.806000	0.28996	0.943000	0.38184	0.933000	0.57130	-0.056000	0.11787	-0.538000	0.06281	0.561000	0.74099	TTC		0.652	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		6	131	1	0	0.00116845	1	0.001195	6	131				
NEDD9	4739	broad.mit.edu	37	6	11201242	11201242	+	Intron	SNP	A	A	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr6:11201242A>T	ENST00000379446.5	-	3	626				RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Intron|NEDD9_ENST00000379433.5_Missense_Mutation_p.V166E	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9						actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			AGAGGCTCTCACTAAGAAATA	0.428																																						ENST00000379433.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(496-498)gTg>gAg		neural precursor cell expressed, developmentally down-regulated 9							169.0	155.0	160.0					6																	11201242		2203	4300	6503	SO:0001627	intron_variant	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11201242A>T	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.460-7317T>A	6.37:g.11201242A>T						NEDD9_ENST00000379446.5_Intron|NEDD9_ENST00000504387.1_Intron|RP3-510L9.1_ENST00000500636.2_RNA	p.V166E	NM_182966.3	NP_892011.2	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		3	639	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	0			Interacts strongly with spindle- regulatory protein D1M1.		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	c.497T>A	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455129	0.26161	.	.	ENSG00000111859	ENST00000379433	T	0.67865	-0.29	4.42	0.456	0.16655	.	.	.	.	.	T	0.12475	0.0303	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33727	-0.9857	8	0.02654	T	1	.	4.6674	0.12673	0.6762:0.0:0.18:0.1438	.	166	Q5XKI0	.	E	166	ENSP00000368745:V166E	ENSP00000368745:V166E	V	-	2	0	NEDD9	11309228	0.004000	0.15560	0.001000	0.08648	0.029000	0.11900	0.315000	0.19451	-0.262000	0.09392	-1.139000	0.01908	GTG		0.428	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		4	102	0	0	0	1	0	4	102				
CTBP2	1488	broad.mit.edu	37	10	126692042	126692042	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr10:126692042C>T	ENST00000337195.5	-	4	477	c.78G>A	c.(76-78)atG>atA	p.M26I	CTBP2_ENST00000411419.2_Missense_Mutation_p.M26I|CTBP2_ENST00000494626.2_Missense_Mutation_p.M26I|CTBP2_ENST00000309035.6_Missense_Mutation_p.M566I|CTBP2_ENST00000531469.1_Missense_Mutation_p.M26I|CTBP2_ENST00000334808.6_Missense_Mutation_p.M94I	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	26					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGGGGCCGTTCATGATCTGGG	0.687																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1696-1698)atG>atA		C-terminal binding protein 2							14.0	18.0	16.0					10																	126692042		2147	4173	6320	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126692042C>T	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.78G>A	10.37:g.126692042C>T	ENSP00000338615:p.Met26Ile					CTBP2_ENST00000411419.2_Missense_Mutation_p.M26I|CTBP2_ENST00000337195.5_Missense_Mutation_p.M26I|CTBP2_ENST00000334808.6_Missense_Mutation_p.M94I|CTBP2_ENST00000531469.1_Missense_Mutation_p.M26I|CTBP2_ENST00000494626.2_Missense_Mutation_p.M26I	p.M566I	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	2	1828	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	26					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.1698G>A	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901608	0.72754	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D;D;D	0.83755	-1.64;-1.76;-1.72;-1.64;-1.64;-1.64	4.72	4.72	0.59763	.	0.118609	0.85682	D	0.000000	T	0.78604	0.4309	N	0.19112	0.55	0.80722	D	1	B;P;B	0.40909	0.077;0.732;0.138	B;P;B	0.44696	0.017;0.458;0.04	T	0.82476	-0.0438	10	0.72032	D	0.01	.	18.0503	0.89345	0.0:1.0:0.0:0.0	.	26;566;94	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	I	26;566;94;26;26;26	ENSP00000338615:M26I;ENSP00000311825:M566I;ENSP00000357816:M94I;ENSP00000434630:M26I;ENSP00000436285:M26I;ENSP00000410474:M26I	ENSP00000311825:M566I	M	-	3	0	CTBP2	126682032	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.005000	0.70716	2.350000	0.79820	0.561000	0.74099	ATG		0.687	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		9	14	0	0	0	1	0	9	14				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	53	0	0	0	1	0	4	53				
MYO15A	51168	broad.mit.edu	37	17	18023599	18023599	+	Silent	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr17:18023599G>A	ENST00000205890.5	+	2	1823	c.1485G>A	c.(1483-1485)gtG>gtA	p.V495V		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	495					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGCTGGAGGTGCCCCTGCCAC	0.642																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1483-1485)gtG>gtA		myosin XVA							37.0	45.0	43.0					17																	18023599		2051	4184	6235	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023599G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1485G>A	17.37:g.18023599G>A							p.V495V	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1823	+	all_neural(463;0.228)		495			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.1485G>A	CCDS42271.1																																																																																				0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		34	8	0	0	0	1	0	34	8				
ZC3H12B	340554	broad.mit.edu	37	X	64719785	64719785	+	Silent	SNP	T	T	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:64719785T>C	ENST00000338957.4	+	4	1073	c.1006T>C	c.(1006-1008)Tta>Cta	p.L336L	ZC3H12B_ENST00000423889.3_Silent_p.L325L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	336							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGATGATCCATTAGGACGCCA	0.438																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1006-1008)Tta>Cta		zinc finger CCCH-type containing 12B							165.0	155.0	158.0					X																	64719785		1954	4146	6100	SO:0001819	synonymous_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64719785T>C	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1006T>C	X.37:g.64719785T>C						ZC3H12B_ENST00000423889.3_Silent_p.L325L	p.L336L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			4	1073	+			325					B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	37	c.1006T>C	CCDS48131.2																																																																																				0.438	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		62	87	0	0	0	1	0	62	87				
SLC1A3	6507	broad.mit.edu	37	5	36686177	36686177	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr5:36686177C>T	ENST00000265113.4	+	10	1911	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.R434W	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	479					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGATCGCCTCCGGACCACCAC	0.552																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(1435-1437)Cgg>Tgg		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)						69.0	70.0	69.0					5																	36686177		2203	4300	6503	SO:0001583	missense	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36686177C>T		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.1435C>T	5.37:g.36686177C>T	ENSP00000265113:p.Arg479Trp					SLC1A3_ENST00000381918.3_Missense_Mutation_p.R434W|CTD-2353F22.1_ENST00000510740.1_RNA	p.R479W	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1911	+	all_lung(31;0.000245)		479					B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	c.1435C>T	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	C	35	5.530515	0.96446	.	.	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.67345	-0.26;-0.11	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.89770	0.6811	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93402	0.6761	10	0.87932	D	0	-7.8942	19.6689	0.95903	0.0:1.0:0.0:0.0	.	434;479	Q4JCQ8;P43003	.;EAA1_HUMAN	W	479;427;434	ENSP00000265113:R479W;ENSP00000371343:R434W	ENSP00000265113:R479W	R	+	1	2	SLC1A3	36721934	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.007000	0.70731	2.642000	0.89623	0.655000	0.94253	CGG		0.552	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		30	85	0	0	0	1	0	30	85				
CHD2	1106	broad.mit.edu	37	15	93524636	93524636	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr15:93524636A>T	ENST00000394196.4	+	24	4083	c.3015A>T	c.(3013-3015)agA>agT	p.R1005S	CHD2_ENST00000557381.1_Missense_Mutation_p.R1005S	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1005	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTGAAACGAGAGAGAATGAAG	0.368																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(3013-3015)agA>agT		chromodomain helicase DNA binding protein 2							147.0	139.0	142.0					15																	93524636		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93524636A>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3015A>T	15.37:g.93524636A>T	ENSP00000377747:p.Arg1005Ser					CHD2_ENST00000557381.1_Missense_Mutation_p.R1005S	p.R1005S	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		24	4083	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1005			Glu-rich.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.3015A>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	A	19.07	3.756196	0.69648	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.02301	4.35;4.35	4.87	4.87	0.63330	.	0.000000	0.34879	U	0.003608	T	0.08758	0.0217	M	0.78223	2.4	0.80722	D	1	B;D	0.54772	0.066;0.968	B;P	0.56865	0.105;0.808	T	0.00549	-1.1676	10	0.72032	D	0.01	-24.4715	9.7011	0.40187	0.9107:0.0:0.0893:0.0	.	1005;1005	O14647;O14647-2	CHD2_HUMAN;.	S	1005	ENSP00000377747:R1005S;ENSP00000451366:R1005S	ENSP00000377747:R1005S	R	+	3	2	CHD2	91325640	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	1.635000	0.37134	1.951000	0.56629	0.533000	0.62120	AGA		0.368	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		3	11	0	0	0	1	0	3	11				
NCF1	653361	broad.mit.edu	37	7	74197924	74197924	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:74197924G>C	ENST00000289473.4	+	7	701	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	211	Asp/Glu-rich (highly acidic).|SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	GTCCTTCCTCGAGCCCCTGGA	0.637																																						ENST00000289473.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						c.(631-633)Gag>Cag		neutrophil cytosolic factor 1							61.0	54.0	56.0					7																	74197924		2202	4298	6500	SO:0001583	missense	653361				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity	g.chr7:74197924G>C	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"""NADPH oxidase organizer 2"", ""chronic granulomatous disease, autosomal 1"""	608512	"""neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"""				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.631G>C	7.37:g.74197924G>C	ENSP00000289473:p.Glu211Gln					NCF1_ENST00000443956.3_3'UTR	p.E211Q	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN			7	701	+			211			Asp/Glu-rich (highly acidic).|SH3 1.		A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Missense_Mutation	SNP	ENST00000289473.4	37	c.631G>C	CCDS34657.1	.	.	.	.	.	.	.	.	.	.	g	22.0	4.225931	0.79576	.	.	ENSG00000158517	ENST00000289473	T	0.70869	-0.52	4.14	4.14	0.48551	Src homology-3 domain (3);	0.101970	0.64402	D	0.000003	D	0.82641	0.5081	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.85764	0.1351	10	0.87932	D	0	-21.5201	15.444	0.75213	0.0:0.0:1.0:0.0	.	211	P14598	NCF1_HUMAN	Q	211	ENSP00000289473:E211Q	ENSP00000289473:E211Q	E	+	1	0	NCF1	73835860	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	8.990000	0.93510	1.886000	0.54624	0.289000	0.19496	GAG		0.637	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		15	55	0	0	0	1	0	15	55				
IDH3G	3421	broad.mit.edu	37	X	153051890	153051890	+	Silent	SNP	G	G	A	rs373358098		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:153051890G>A	ENST00000217901.5	-	11	1135	c.939C>T	c.(937-939)acC>acT	p.T313T	IDH3G_ENST00000370093.1_Silent_p.T313T|IDH3G_ENST00000370092.3_Silent_p.T313T|IDH3G_ENST00000427365.2_Silent_p.T255T|IDH3G_ENST00000497043.1_5'Flank	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	313					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	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)					TACTCTTGCCGGTGTTCCTCG	0.612																																						ENST00000370092.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17						c.(937-939)acC>acT		isocitrate dehydrogenase 3 (NAD+) gamma	NADH(DB00157)		,	0,3812		0,0,1627,558	132.0	75.0	94.0		939,939	-10.9	0.6	X		94	1,6713		0,1,2426,1860	no	coding-synonymous,coding-synonymous	IDH3G	NM_004135.2,NM_174869.1	,	0,1,4053,2418	AA,AG,GG,G		0.0149,0.0,0.0095	,	313/394,313/381	153051890	1,10525	2185	4287	6472	SO:0001819	synonymous_variant	3421				carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chrX:153051890G>A		CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.939C>T	X.37:g.153051890G>A						IDH3G_ENST00000370093.1_Silent_p.T313T|IDH3G_ENST00000427365.2_Silent_p.T255T|IDH3G_ENST00000217901.5_Silent_p.T313T	p.T313T	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN			11	1124	-	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)		313					E9PDD5|Q9BUU5	Silent	SNP	ENST00000217901.5	37	c.939C>T	CCDS14730.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.340|3.340	-0.134767|-0.134767	0.06711|0.06711	0.0|0.0	1.49E-4|1.49E-4	ENSG00000067829|ENSG00000067829	ENST00000424541|ENST00000454076	.|.	.|.	.|.	5.46|5.46	-10.9|-10.9	0.00192|0.00192	.|.	.|.	.|.	.|.	.|.	T|T	0.33760|0.33760	0.0874|0.0874	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41752|0.41752	-0.9491|-0.9491	4|4	.|.	.|.	.|.	.|.	2.9696|2.9696	0.05918|0.05918	0.4827:0.1224:0.0832:0.3117|0.4827:0.1224:0.0832:0.3117	.|.	.|.	.|.	.|.	L|W	75|119	.|.	.|.	P|R	-|-	2|1	0|2	IDH3G|IDH3G	152705084|152705084	0.000000|0.000000	0.05858|0.05858	0.610000|0.610000	0.28997|0.28997	0.479000|0.479000	0.33129|0.33129	-5.011000|-5.011000	0.00160|0.00160	-2.472000|-2.472000	0.00529|0.00529	-2.928000|-2.928000	0.00088|0.00088	CCG|CGG		0.612	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27			6	6	0	0	0	1	0	6	6				
HEATR5A	25938	broad.mit.edu	37	14	31817004	31817004	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr14:31817004T>C	ENST00000389961.3	-	18	2799	c.2800A>G	c.(2800-2802)Att>Gtt	p.I934V	HEATR5A_ENST00000543095.2_Missense_Mutation_p.I940V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.I647V|HEATR5A_ENST00000404677.3_Missense_Mutation_p.I940V|HEATR5A_ENST00000439348.1_Missense_Mutation_p.I934V			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	934										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AGGATTCCAATACAAGAATTT	0.428																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(2818-2820)Att>Gtt		HEAT repeat containing 5A							55.0	55.0	55.0					14																	31817004		1874	4101	5975	SO:0001583	missense	25938						binding	g.chr14:31817004T>C	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.2800A>G	14.37:g.31817004T>C	ENSP00000374611:p.Ile934Val					HEATR5A_ENST00000389961.3_Missense_Mutation_p.I934V|HEATR5A_ENST00000439348.1_Missense_Mutation_p.I934V|HEATR5A_ENST00000404677.3_Missense_Mutation_p.I940V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.I647V	p.I940V	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	19	3002	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		934					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.2818A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.389|2.389	-0.340331|-0.340331	0.05243|0.05243	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	T;T;T;T;T|.	0.65916|.	-0.18;-0.18;-0.18;-0.18;-0.18|.	5.06|5.06	-1.81|-1.81	0.07882|0.07882	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.380247|.	0.25596|.	N|.	0.029591|.	T|T	0.18718|0.18718	0.0449|0.0449	N|N	0.03608|0.03608	-0.345|-0.345	0.30259|0.30259	N|N	0.793304|0.793304	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.001;0.001|.	T|T	0.33574|0.33574	-0.9863|-0.9863	10|5	0.02654|.	T|.	1|.	.|.	11.4906|11.4906	0.50379|0.50379	0.0:0.5807:0.0:0.4193|0.0:0.5807:0.0:0.4193	.|.	940;934;934|.	B5MC49;Q86XA9-2;Q86XA9|.	.;.;HTR5A_HUMAN|.	V|C	934;934;647;940;940|582	ENSP00000374611:I934V;ENSP00000405407:I934V;ENSP00000408681:I647V;ENSP00000437968:I940V;ENSP00000384646:I940V|.	ENSP00000374611:I934V|.	I|Y	-|-	1|2	0|0	HEATR5A|HEATR5A	30886755|30886755	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.919000|0.919000	0.55068|0.55068	0.891000|0.891000	0.28309|0.28309	-0.218000|-0.218000	0.10018|0.10018	-0.411000|-0.411000	0.06167|0.06167	ATT|TAT		0.428	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		10	7	0	0	0	1	0	10	7				
TSEN2	80746	broad.mit.edu	37	3	12531437	12531437	+	Silent	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr3:12531437C>T	ENST00000284995.6	+	2	525	c.138C>T	c.(136-138)aaC>aaT	p.N46N	TSEN2_ENST00000383797.5_Silent_p.N46N|TSEN2_ENST00000444864.1_Silent_p.N46N|TSEN2_ENST00000415684.1_Silent_p.N46N|TSEN2_ENST00000402228.3_Silent_p.N46N|TSEN2_ENST00000314571.7_Silent_p.N46N|TSEN2_ENST00000454502.2_Silent_p.N46N	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	46					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						AAATGATTAACAACAATGTGA	0.443																																						ENST00000444864.1																			0				central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						c.(136-138)aaC>aaT		TSEN2 tRNA splicing endonuclease subunit							130.0	123.0	126.0					3																	12531437		2203	4300	6503	SO:0001819	synonymous_variant	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12531437C>T	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.138C>T	3.37:g.12531437C>T						TSEN2_ENST00000415684.1_Silent_p.N46N|TSEN2_ENST00000402228.3_Silent_p.N46N|TSEN2_ENST00000314571.7_Silent_p.N46N|TSEN2_ENST00000284995.6_Silent_p.N46N|TSEN2_ENST00000454502.2_Silent_p.N46N|TSEN2_ENST00000383797.5_Silent_p.N46N	p.N46N	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN			2	525	+			46					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Silent	SNP	ENST00000284995.6	37	c.138C>T	CCDS2611.1																																																																																				0.443	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		39	52	0	0	0	1	0	39	52				
SYNJ1	8867	broad.mit.edu	37	21	34053869	34053869	+	Silent	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr21:34053869G>A	ENST00000322229.7	-	10	1289	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	SYNJ1_ENST00000382499.2_Silent_p.S469S|SYNJ1_ENST00000382491.3_Silent_p.S430S|SYNJ1_ENST00000357345.3_Silent_p.S430S|SYNJ1_ENST00000433931.2_Silent_p.S469S			O43426	SYNJ1_HUMAN	synaptojanin 1	430	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.S430S(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CACCATTCACGGACCACATTG	0.398																																						ENST00000382499.2																			1	Substitution - coding silent(1)	p.S430S(1)	lung(1)	breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(1405-1407)tcC>tcT		synaptojanin 1							148.0	143.0	145.0					21																	34053869		2203	4300	6503	SO:0001819	synonymous_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34053869G>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1290C>T	21.37:g.34053869G>A						SYNJ1_ENST00000322229.7_Silent_p.S430S|SYNJ1_ENST00000433931.2_Silent_p.S469S|SYNJ1_ENST00000382491.3_Silent_p.S430S|SYNJ1_ENST00000357345.3_Silent_p.S430S	p.S469S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			11	1406	-			430					O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	c.1407C>T	CCDS54484.1																																																																																				0.398	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				22	60	0	0	0	1	0	22	60				
BMS1P20	96610	broad.mit.edu	37	22	22661362	22661362	+	RNA	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr22:22661362C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		TGGGCAACAGCGAGGGAAATG	0.502																																						ENST00000426066.1																			0																																																			0							g.chr22:22661362C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661362C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.502	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	31	0	0	0	1	0	3	31				
TIGIT	201633	broad.mit.edu	37	3	114014628	114014628	+	Missense_Mutation	SNP	G	G	A	rs207463547		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr3:114014628G>A	ENST00000486257.1	+	3	555	c.298G>A	c.(298-300)Gtg>Atg	p.V100M	TIGIT_ENST00000383671.3_Missense_Mutation_p.V100M|TIGIT_ENST00000481065.1_Missense_Mutation_p.V167M			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	100	Ig-like V-type.				negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GTCGCTGACCGTGAACGATAC	0.567																																						ENST00000481065.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(499-501)Gtg>Atg		T cell immunoreceptor with Ig and ITIM domains							79.0	74.0	76.0					3																	114014628		2203	4300	6503	SO:0001583	missense	201633				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	g.chr3:114014628G>A	AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.298G>A	3.37:g.114014628G>A	ENSP00000419085:p.Val100Met					TIGIT_ENST00000383671.3_Missense_Mutation_p.V100M|TIGIT_ENST00000486257.1_Missense_Mutation_p.V100M	p.V167M			Q495A1	TIGIT_HUMAN			3	3114	+			100					Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	37	c.499G>A	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	A	2.323	-0.355139	0.05138	.	.	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	4.71	-0.251	0.13003	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.344910	0.01447	N	0.015324	T	0.53546	0.1803	L	0.42245	1.32	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21008	-1.0258	10	0.16420	T	0.52	5.3361	9.0217	0.36204	0.465:0.0:0.535:0.0	.	100	Q495A1	TIGIT_HUMAN	M	79;167;100;100;79	ENSP00000418917:V79M;ENSP00000420552:V167M;ENSP00000419085:V100M;ENSP00000373167:V100M;ENSP00000419706:V79M	ENSP00000373167:V100M	V	+	1	0	TIGIT	115497318	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-0.542000	0.06091	-0.138000	0.11434	-0.361000	0.07541	GTG		0.567	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		42	49	0	0	0	1	0	42	49				
MAD1L1	8379	broad.mit.edu	37	7	2274828	2274828	+	5'Flank	SNP	T	T	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:2274828T>C	ENST00000406869.1	-	0	0				FTSJ2_ENST00000242257.8_Missense_Mutation_p.R224G|FTSJ2_ENST00000407040.1_Missense_Mutation_p.R130G|MAD1L1_ENST00000402746.1_5'Flank|FTSJ2_ENST00000486040.1_5'UTR|MAD1L1_ENST00000399654.2_5'Flank|MAD1L1_ENST00000265854.7_5'Flank|FTSJ2_ENST00000440306.2_3'UTR			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GACTCTTTCCTGCTGGCTTCA	0.468																																						ENST00000242257.8																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(670-672)Agg>Ggg		FtsJ RNA methyltransferase homolog 2 (E. coli)							124.0	117.0	120.0					7																	2274828		2203	4300	6503	SO:0001631	upstream_gene_variant	29960				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity	g.chr7:2274828T>C	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493		7.37:g.2274828T>C	Exception_encountered					FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000407040.1_Missense_Mutation_p.R130G|FTSJ2_ENST00000486040.1_5'UTR	p.R224G	NM_013393.1	NP_037525.1	Q9UI43	RRMJ2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)	3	698	-		Ovarian(82;0.0253)	224					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.670A>G	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.767460	0.49574	.	.	ENSG00000122687	ENST00000242257;ENST00000407040	T;T	0.42513	0.97;0.97	5.23	4.07	0.47477	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.77343	0.4116	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84316	0.0513	10	0.87932	D	0	-11.5612	12.1819	0.54216	0.0:0.0:0.2683:0.7317	.	224	Q9UI43	RRMJ2_HUMAN	G	224;130	ENSP00000242257:R224G;ENSP00000384423:R130G	ENSP00000242257:R224G	R	-	1	2	FTSJ2	2241354	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	1.585000	0.36600	0.817000	0.34445	-0.488000	0.04728	AGG		0.468	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		34	63	0	0	0	1	0	34	63				
SLC10A3	8273	broad.mit.edu	37	X	153716854	153716854	+	Silent	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:153716854C>T	ENST00000393587.4	-	3	689	c.426G>A	c.(424-426)ctG>ctA	p.L142L	UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000393586.1_Silent_p.L197L|SLC10A3_ENST00000369649.4_Intron|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000263512.4_Silent_p.L142L|UBL4A_ENST00000369653.4_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	142					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAGTGGGGCCAGCCCAGCCA	0.612																																						ENST00000263512.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(424-426)ctG>ctA		solute carrier family 10, member 3							62.0	58.0	59.0					X																	153716854		2203	4299	6502	SO:0001819	synonymous_variant	8273				organic anion transport	integral to membrane	bile acid:sodium symporter activity	g.chrX:153716854C>T	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.426G>A	X.37:g.153716854C>T						SLC10A3_ENST00000393587.4_Silent_p.L142L|SLC10A3_ENST00000393586.1_Silent_p.L197L|SLC10A3_ENST00000369649.4_Intron	p.L142L	NM_019848.3	NP_062822.1	P09131	P3_HUMAN			2	924	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		142					Q5HY79|Q9BSL2	Silent	SNP	ENST00000393587.4	37	c.426G>A	CCDS14755.1																																																																																				0.612	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		43	70	0	0	0	1	0	43	70				
ZNF573	126231	broad.mit.edu	37	19	38230644	38230644	+	Silent	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:38230644C>T	ENST00000590414.2	-	4	768	c.747G>A	c.(745-747)caG>caA	p.Q249Q	ZNF573_ENST00000536220.1_Silent_p.Q161Q|ZNF573_ENST00000339503.4_Silent_p.Q191Q|ZNF573_ENST00000392138.1_Silent_p.Q162Q|ZNF573_ENST00000357309.3_Silent_p.Q161Q			Q86YE8	ZN573_HUMAN	zinc finger protein 573	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TCCCACACTCCTGACATTCAT	0.428																																						ENST00000339503.4																			0				NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(571-573)caG>caA		zinc finger protein 573							121.0	114.0	117.0					19																	38230644		2203	4300	6503	SO:0001819	synonymous_variant	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38230644C>T	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.747G>A	19.37:g.38230644C>T						ZNF573_ENST00000392138.1_Silent_p.Q162Q|ZNF573_ENST00000590414.2_Silent_p.Q249Q|ZNF573_ENST00000357309.3_Silent_p.Q161Q|ZNF573_ENST00000536220.1_Silent_p.Q161Q	p.Q191Q	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		8	1074	-			229					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Silent	SNP	ENST00000590414.2	37	c.573G>A	CCDS59381.1																																																																																				0.428	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		37	371	0	0	0	1	0	37	371				
COL6A6	131873	broad.mit.edu	37	3	130284093	130284093	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr3:130284093C>T	ENST00000358511.6	+	3	948	c.917C>T	c.(916-918)gCc>gTc	p.A306V	COL6A6_ENST00000453409.2_Missense_Mutation_p.A306V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	306	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A306D(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACTGGGAAGGCCTATACTGGA	0.478																																						ENST00000358511.6																			1	Substitution - Missense(1)	p.A306D(1)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(916-918)gCc>gTc		collagen, type VI, alpha 6							71.0	73.0	72.0					3																	130284093		1860	4101	5961	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130284093C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.917C>T	3.37:g.130284093C>T	ENSP00000351310:p.Ala306Val					COL6A6_ENST00000453409.2_Missense_Mutation_p.A306V	p.A306V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			3	948	+			306			Nonhelical region.|VWFA 2.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.917C>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041759	0.55003	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78364	-1.17;-1.17	5.01	5.01	0.66863	von Willebrand factor, type A (3);	0.099840	0.44483	D	0.000448	T	0.77705	0.4170	L	0.51914	1.62	0.37109	D	0.900279	P	0.37061	0.58	B	0.41723	0.365	T	0.81876	-0.0731	10	0.51188	T	0.08	.	18.2742	0.90078	0.0:1.0:0.0:0.0	.	306	A6NMZ7	CO6A6_HUMAN	V	306	ENSP00000351310:A306V;ENSP00000399236:A306V	ENSP00000351310:A306V	A	+	2	0	COL6A6	131766783	0.996000	0.38824	0.857000	0.33713	0.021000	0.10359	5.527000	0.67123	2.492000	0.84095	0.561000	0.74099	GCC		0.478	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		49	69	0	0	0	1	0	49	69				
OCM2	4951	broad.mit.edu	37	7	97617777	97617777	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:97617777G>A	ENST00000257627.4	-	2	236	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	49	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			lung(4)	4						TCTATGAACCGGAAAACATCC	0.507																																						ENST00000257627.4																			0				lung(4)	4						c.(145-147)Cgg>Tgg		oncomodulin 2							173.0	149.0	157.0					7																	97617777		2203	4300	6503	SO:0001583	missense	4951						calcium ion binding	g.chr7:97617777G>A	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"""EF-hand domain containing"""	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.145C>T	7.37:g.97617777G>A	ENSP00000257627:p.Arg49Trp					OCM2_ENST00000473987.2_5'UTR	p.R49W	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN			2	236	-			49			EF-hand 1.		P32930|Q6ISI5|Q75MW0	Missense_Mutation	SNP	ENST00000257627.4	37	c.145C>T	CCDS5653.1	.	.	.	.	.	.	.	.	.	.	g	17.57	3.421688	0.62622	.	.	ENSG00000135175	ENST00000257627	T	0.72282	-0.64	3.98	3.98	0.46160	EF-hand-like domain (1);	0.210681	0.40818	N	0.001016	T	0.76702	0.4024	M	0.83603	2.65	0.34089	D	0.660529	D	0.57571	0.98	P	0.50162	0.633	D	0.85283	0.1063	10	0.54805	T	0.06	-9.1981	10.9655	0.47410	0.0:0.1906:0.8094:0.0	.	49	P0CE71	OCM2_HUMAN	W	49	ENSP00000257627:R49W	ENSP00000257627:R49W	R	-	1	2	OCM2	97455713	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.429000	0.34903	2.074000	0.62210	0.472000	0.43445	CGG		0.507	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	NM_006188		36	62	0	0	0	1	0	36	62				
FBXW7	55294	broad.mit.edu	37	4	153247288	153247288	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr4:153247288C>A	ENST00000281708.4	-	10	2743	c.1514G>T	c.(1513-1515)cGc>cTc	p.R505L	FBXW7_ENST00000603841.1_Missense_Mutation_p.R505L|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329L|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505L|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387L|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505L(7)|p.R505H(5)|p.R266L(1)|p.R266H(1)|p.?(1)|p.R505P(1)|p.R425H(1)|p.R425L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTGAACACAGCGGACTGCTGC	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		18	Substitution - Missense(17)|Unknown(1)	p.R505L(7)|p.R505H(5)|p.R266L(1)|p.R266H(1)|p.?(1)|p.R505P(1)|p.R425H(1)|p.R425L(1)	large_intestine(9)|upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(2)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1513-1515)cGc>cTc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							169.0	159.0	163.0					4																	153247288		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247288C>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1514G>T	4.37:g.153247288C>A	ENSP00000281708:p.Arg505Leu					FBXW7_ENST00000603548.1_Missense_Mutation_p.R505L|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505L|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329L|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425L|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387L	p.R505L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2743	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1514G>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004722	0.74932	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.72	4.87	0.63330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.62332	0.2419	N	0.13299	0.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.70249	-0.4924	10	0.87932	D	0	-12.0024	16.4274	0.83818	0.1326:0.8674:0.0:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	L	505;387;425;329	ENSP00000281708:R505L;ENSP00000296555:R387L;ENSP00000263981:R425L;ENSP00000377528:R329L	ENSP00000263981:R425L	R	-	2	0	FBXW7	153466738	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	7.744000	0.85034	1.533000	0.49186	-0.188000	0.12872	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			17	47	1	0	4.14922e-12	1	4.55402e-12	17	47				
SCML2	10389	broad.mit.edu	37	X	18338512	18338512	+	Silent	SNP	C	C	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:18338512C>A	ENST00000251900.4	-	6	585	c.426G>T	c.(424-426)ccG>ccT	p.P142P		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	142					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AGAGGAACATCGGCCAGGAGG	0.333																																					Esophageal Squamous(100;1252 1965 19021 35517)	ENST00000251900.4																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(424-426)ccG>ccT		sex comb on midleg-like 2 (Drosophila)							89.0	78.0	82.0					X																	18338512		2203	4300	6503	SO:0001819	synonymous_variant	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18338512C>A	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.426G>T	X.37:g.18338512C>A							p.P142P	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN			6	585	-	Hepatocellular(33;0.183)		142					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Silent	SNP	ENST00000251900.4	37	c.426G>T	CCDS14185.1																																																																																				0.333	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		7	15	1	0	5.18039e-06	1	5.55042e-06	7	15				
CACNA1A	773	broad.mit.edu	37	19	13338336	13338336	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:13338336C>T	ENST00000360228.5	-	37	5533	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	CACNA1A_ENST00000573710.2_Intron|CACNA1A_ENST00000574822.1_5'Flank	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1846					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GTAAGGCATGCGGCCCCTGGC	0.493																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5533-5535)cGc>cAc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						48.0	49.0	49.0					19																	13338336		1877	4112	5989	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13338336C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5534G>A	19.37:g.13338336C>T	ENSP00000353362:p.Arg1845His					CACNA1A_ENST00000573710.2_Intron	p.R1845H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		37	5533	-			1846					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5534G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	c	24.9	4.580140	0.86645	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018	D	0.96459	-4.02	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000001	D	0.98264	0.9425	M	0.88640	2.97	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.99581	1.0973	10	0.87932	D	0	.	16.0868	0.81060	0.0:1.0:0.0:0.0	.	1845	Q9NS88	.	H	1845;1851;1846	ENSP00000353362:R1845H	ENSP00000349520:R1846H	R	-	2	0	CACNA1A	13199336	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.764000	0.85297	2.079000	0.62486	0.298000	0.19748	CGC		0.493	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		4	64	0	0	0	1	0	4	64				
NFATC3	4775	broad.mit.edu	37	16	68200785	68200785	+	Silent	SNP	T	T	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr16:68200785T>C	ENST00000346183.3	+	5	1665	c.1641T>C	c.(1639-1641)gaT>gaC	p.D547D	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Silent_p.D547D|NFATC3_ENST00000329524.4_Silent_p.D547D|NFATC3_ENST00000349223.5_Silent_p.D547D	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	547	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GCAATTCAGATATAGAACTTC	0.333																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.(1639-1641)gaT>gaC		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							85.0	81.0	82.0					16																	68200785		2198	4300	6498	SO:0001819	synonymous_variant	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68200785T>C	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1641T>C	16.37:g.68200785T>C						NFATC3_ENST00000575270.1_Silent_p.D547D|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.D547D|NFATC3_ENST00000329524.4_Silent_p.D547D	p.D547D	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	5	1865	+		Ovarian(137;0.0563)	547			RHD.		O75211|Q14516|Q99840|Q99841|Q99842	Silent	SNP	ENST00000346183.3	37	c.1641T>C	CCDS10860.1																																																																																				0.333	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		13	20	0	0	0	1	0	13	20				
SNHG14	104472715	broad.mit.edu	37	15	25328812	25328812	+	RNA	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr15:25328812G>A	ENST00000546682.1	+	0	320				SNHG14_ENST00000553108.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNORD116-15_ENST00000384445.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		CGTCATCCTCGTCGAACTGAG	0.443																																						ENST00000546682.1																			0																				275.0	236.0	248.0					15																	25328812		876	1991	2867			0							g.chr15:25328812G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25328812G>A						SNHG14_ENST00000549804.2_RNA|SNORD116-17_ENST00000383929.1_RNA		NR_003361.1						0	320	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.443	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			57	58	0	0	0	1	0	57	58				
SLC25A13	10165	broad.mit.edu	37	7	95775911	95775911	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:95775911G>A	ENST00000265631.5	-	14	1545	c.1409C>T	c.(1408-1410)gCt>gTt	p.A470V	SLC25A13_ENST00000542654.1_Missense_Mutation_p.A362V|SLC25A13_ENST00000416240.2_Missense_Mutation_p.A471V			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	470					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GACAGACAGAGCACTGACTCG	0.433																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1411-1413)gCt>gTt		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						123.0	141.0	135.0					7																	95775911		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95775911G>A	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1409C>T	7.37:g.95775911G>A	ENSP00000265631:p.Ala470Val					SLC25A13_ENST00000542654.1_Missense_Mutation_p.A362V|SLC25A13_ENST00000265631.5_Missense_Mutation_p.A470V	p.A471V	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		14	1602	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		470					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.1412C>T	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049871	0.75846	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.78126	-1.15;-1.15;-1.15	4.63	4.63	0.57726	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.83069	0.5174	L	0.41824	1.3	0.80722	D	1	D;D;D	0.63880	0.991;0.993;0.993	P;D;D	0.67382	0.86;0.951;0.951	D	0.83465	0.0056	10	0.48119	T	0.1	-14.0578	18.0706	0.89405	0.0:0.0:1.0:0.0	.	362;471;470	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	V	470;471;362	ENSP00000265631:A470V;ENSP00000400101:A471V;ENSP00000440484:A362V	ENSP00000265631:A470V	A	-	2	0	SLC25A13	95613847	1.000000	0.71417	0.944000	0.38274	0.222000	0.24845	9.657000	0.98554	2.575000	0.86900	0.655000	0.94253	GCT		0.433	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		73	129	0	0	0	1	0	73	129				
CKMT1B	1159	broad.mit.edu	37	15	43891378	43891378	+	Silent	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr15:43891378C>T	ENST00000441322.1	+	9	1521	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	CKMT1B_ENST00000300283.6_Silent_p.I387I			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	387	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	AACTGGTCATCGATGGAGTAA	0.473																																						ENST00000300283.6																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(1159-1161)atC>atT		creatine kinase, mitochondrial 1B	Creatine(DB00148)						218.0	190.0	200.0					15																	43891378		2200	4297	6497	SO:0001819	synonymous_variant	1159				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43891378C>T	AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT, CKMT1			Standard	XM_005254150		Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.1161C>T	15.37:g.43891378C>T						CKMT1B_ENST00000441322.1_Silent_p.I387I	p.I387I	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	10	1553	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	387			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Silent	SNP	ENST00000441322.1	37	c.1161C>T	CCDS10097.1																																																																																				0.473	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	NM_020990		74	66	0	0	0	1	0	74	66				
PIK3R1	5295	broad.mit.edu	37	5	67589579	67589596	+	In_Frame_Del	DEL	AAATTACATGAATATAAC	AAATTACATGAATATAAC	-	rs17852841		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr5:67589579_67589596delAAATTACATGAATATAAC	ENST00000521381.1	+	11	1958_1975	c.1342_1359delAAATTACATGAATATAAC	c.(1342-1359)aaattacatgaatataacdel	p.KLHEYN448del	PIK3R1_ENST00000336483.5_In_Frame_Del_p.KLHEYN178del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.KLHEYN448del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.KLHEYN448del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.KLHEYN85del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.KLHEYN148del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.KLHEYN448del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	448					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.N453_T454insN(3)|p.H450_E451del(2)|p.L449fs*3(1)|p.Y152N(1)|p.T454_D464del(1)|p.Y452_Q455>SGGSRIK(1)|p.L449S(1)|p.?(1)|p.G446_Y452>VI(1)|p.Y452N(1)|p.T454_Q455>Q(1)|p.E451_Y452del(1)|p.E451_Y452delEY(1)|p.K448_L449>I(1)|p.Y182N(1)|p.453_454insN(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TGTAGGGAAAAAATTACATGAATATAACACTCAGTTTC	0.266			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		20	Deletion - In frame(5)|Insertion - In frame(4)|Complex - deletion inframe(4)|Substitution - Missense(4)|Insertion - Frameshift(1)|Unknown(1)|Whole gene deletion(1)	p.N453_T454insN(3)|p.H450_E451del(2)|p.L449fs*3(1)|p.Y152N(1)|p.T454_D464del(1)|p.Y452_Q455>SGGSRIK(1)|p.L449S(1)|p.?(1)|p.G446_Y452>VI(1)|p.Y452N(1)|p.T454_Q455>Q(1)|p.E451_Y452del(1)|p.E451_Y452delEY(1)|p.K448_L449>I(1)|p.Y182N(1)|p.453_454insN(1)|p.0?(1)	endometrium(6)|central_nervous_system(5)|breast(4)|large_intestine(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1342-1359)del		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589579_67589596delAAATTACATGAATATAAC	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1342_1359delAAATTACATGAATATAAC	5.37:g.67589579_67589596delAAATTACATGAATATAAC	ENSP00000428056:p.Lys448_Asn453del	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000523872.1_In_Frame_Del_p.KLHEYN85del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.KLHEYN448del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.KLHEYN178del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.KLHEYN448del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.KLHEYN448del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.KLHEYN148del	p.KLHEYN448del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	1958_1975	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	448					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1342_1359delAAATTACATGAATATAAC	CCDS3993.1																																																																																				0.266	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		8	25						8	25	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			0							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA														0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		5	5						5	5	---	---	---	---
IGSF6	10261	broad.mit.edu	37	16	21658474	21658476	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr16:21658474_21658476delCCT	ENST00000268389.4	-	2	466_468	c.405_407delAGG	c.(403-408)ggaggg>ggg	p.135_136GG>G	METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	135					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		CAGTGTGGTCCCTCCTCCTGTCT	0.468																																						ENST00000268389.4																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(403-408)ggg>gg		immunoglobulin superfamily, member 6																																				SO:0001651	inframe_deletion	10261				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr16:21658474_21658476delCCT	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"""Immunoglobulin superfamily / V-set domain containing"""	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.405_407delAGG	16.37:g.21658480_21658482delCCT	ENSP00000268389:p.Gly136del					METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	p.GG135del	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN		GBM - Glioblastoma multiforme(48;0.066)	2	466_468	-			135					Q8WWD8	In_Frame_Del	DEL	ENST00000268389.4	37	c.405_407delAGG	CCDS10599.1																																																																																				0.468	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			36	77						36	77	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578402	7578403	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr17:7578402_7578403insT	ENST00000269305.4	-	5	716_717	c.527_528insA	c.(526-528)tgcfs	p.C176fs	TP53_ENST00000420246.2_Frame_Shift_Ins_p.C176fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.C176fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C176fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Frame_Shift_Ins_p.C176fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.C176fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C176*(12)|p.C176W(11)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.H178fs*69(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.C83*(2)|p.V173fs*59(2)|p.C44*(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.P177fs*4(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATGGTGGGGGCAGCGCCTCAC	0.649		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		298	Substitution - Missense(235)|Deletion - Frameshift(21)|Substitution - Nonsense(16)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(2)	p.C176F(129)|p.C176Y(63)|p.C176*(12)|p.C176W(11)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.H178fs*69(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.C83*(2)|p.V173fs*59(2)|p.C44*(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.P177fs*4(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)	lung(47)|large_intestine(45)|upper_aerodigestive_tract(37)|breast(33)|oesophagus(28)|ovary(21)|liver(20)|haematopoietic_and_lymphoid_tissue(14)|stomach(11)|central_nervous_system(9)|bone(9)|urinary_tract(8)|skin(3)|pancreas(3)|genital_tract(2)|endometrium(2)|prostate(2)|adrenal_gland(1)|vulva(1)|soft_tissue(1)|biliary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(526-528)tccfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578402_7578403insT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.527_528insA	17.37:g.7578402_7578403insT	ENSP00000269305:p.Cys176fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Frame_Shift_Ins_p.S176fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.S176fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.S176fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.S176fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S176fs	p.S176fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	659_660	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	176		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.527_528insA	CCDS11118.1																																																																																				0.649	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	10						23	10	---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCACCCGCCTTCTTCTTCTTG	0.601																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(91-93)del		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001651	inframe_deletion	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054349_36054351delCTT		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.91_93delAAG	19.37:g.36054358_36054360delCTT	ENSP00000262623:p.Lys31del						p.K31del	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	119_121	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		31					O00738	In_Frame_Del	DEL	ENST00000262623.3	37	c.91_93delAAG	CCDS12467.1																																																																																				0.601	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		9	1171						9	1171	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-	rs151129136		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:38882864_38882866delCCT	ENST00000338502.4	+	3	462_464	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del|SPRED3_ENST00000587013.1_In_Frame_Del_p.S172del|SPRED3_ENST00000587564.2_3'UTR	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645																																						ENST00000587013.1																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(490-495)ccc>c		sprouty-related, EVH1 domain containing 3			,	401,4,3395		26,0,349,0,4,1521					,	3.3	0.9		dbSNP_134	44	1035,11,6892		107,0,821,1,9,3031	no	codingComplex,codingComplex	SPRED3	NM_001042522.1,NM_001039616.1	,	133,0,1170,1,13,4552	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1771,10.6579,12.3616	,	,		1436,15,10287				SO:0001651	inframe_deletion	399473				multicellular organismal development			g.chr19:38882864_38882866delCCT		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.359_361delCCT	19.37:g.38882873_38882875delCCT	ENSP00000345405:p.Ser128del					SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del	p.PS164del			Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	569_571	+	all_cancers(60;3.4e-06)		120					Q2MJR1	In_Frame_Del	DEL	ENST00000338502.4	37	c.491_493delCCT	CCDS42560.1																																																																																				0.645	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		9	140						9	140	---	---	---	---
ZNF211	10520	broad.mit.edu	37	19	58152473	58152476	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:58152473_58152476delCAAA	ENST00000347302.3	+	3	798_801	c.619_622delCAAA	c.(619-624)caaacafs	p.QT207fs	ZNF211_ENST00000541801.1_Frame_Shift_Del_p.QT198fs|ZNF211_ENST00000544273.1_Frame_Shift_Del_p.QT219fs|ZNF211_ENST00000299871.5_Frame_Shift_Del_p.QT272fs|ZNF211_ENST00000391703.3_Frame_Shift_Del_p.QT146fs|ZNF211_ENST00000240731.4_Frame_Shift_Del_p.QT220fs|ZNF211_ENST00000420680.1_Frame_Shift_Del_p.QT211fs|ZNF211_ENST00000254182.7_Frame_Shift_Del_p.QT198fs	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGACGCCACTCAAACAGGGGAGAA	0.471																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(655-660)cafs		zinc finger protein 211																																				SO:0001589	frameshift_variant	0					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152473_58152476delCAAA	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.619_622delCAAA	19.37:g.58152473_58152476delCAAA	ENSP00000339562:p.Gln207fs					ZNF211_ENST00000299871.5_Frame_Shift_Del_p.QT272fs|ZNF211_ENST00000541801.1_Frame_Shift_Del_p.QT198fs|ZNF211_ENST00000347302.3_Frame_Shift_Del_p.QT207fs|ZNF211_ENST00000420680.1_Frame_Shift_Del_p.QT211fs|ZNF211_ENST00000391703.3_Frame_Shift_Del_p.QT146fs|ZNF211_ENST00000254182.7_Frame_Shift_Del_p.QT198fs|ZNF211_ENST00000240731.4_Frame_Shift_Del_p.QT220fs	p.QT219fs			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	982_985	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	207					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Frame_Shift_Del	DEL	ENST00000347302.3	37	c.655_658delCAAA	CCDS12957.1																																																																																				0.471	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			22	42						22	42	---	---	---	---
