#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
GPRASP2	114928	broad.mit.edu	37	X	101972267	101972267	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chrX:101972267G>T	ENST00000535209.1	+	4	3301	c.2470G>T	c.(2470-2472)Gcc>Tcc	p.A824S	GPRASP2_ENST00000543253.1_Missense_Mutation_p.A824S|GPRASP2_ENST00000332262.5_Missense_Mutation_p.A824S			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	824						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GCAACTACAAGCCCAAATAGA	0.403																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(2470-2472)Gcc>Tcc		G protein-coupled receptor associated sorting protein 2							93.0	98.0	96.0					X																	101972267		2201	4287	6488	SO:0001583	missense	114928							g.chrX:101972267G>T	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2470G>T	X.37:g.101972267G>T	ENSP00000437394:p.Ala824Ser					GPRASP2_ENST00000535209.1_Missense_Mutation_p.A824S|GPRASP2_ENST00000332262.5_Missense_Mutation_p.A824S	p.A824S	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	3389	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.2470G>T	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.160089	0.01686	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.29917	1.55;1.55;1.55	4.04	-3.32	0.04973	Armadillo-type fold (1);	1.597100	0.03893	N	0.279045	T	0.19565	0.0470	N	0.12182	0.205	0.09310	N	1	B	0.14012	0.009	B	0.19391	0.025	T	0.31861	-0.9928	10	0.42905	T	0.14	1.4477	11.1102	0.48228	0.7885:0.0:0.2115:0.0	.	824	Q96D09	GASP2_HUMAN	S	824	ENSP00000437872:A824S;ENSP00000437394:A824S;ENSP00000339057:A824S	ENSP00000339057:A824S	A	+	1	0	GPRASP2	101858923	0.965000	0.33210	0.018000	0.16275	0.979000	0.70002	0.020000	0.13466	-1.034000	0.03295	0.513000	0.50165	GCC		0.403	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		4	73	1	0	1.024e-07	1	1.09137e-07	4	73				
PKDREJ	10343	broad.mit.edu	37	22	46654307	46654307	+	Missense_Mutation	SNP	G	G	A	rs370600000		TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr22:46654307G>A	ENST00000253255.5	-	1	4912	c.4913C>T	c.(4912-4914)aCg>aTg	p.T1638M		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1638					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGGTTTATTCGTTCTGAAGCC	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20147	0.0		0.0	False		,,,				2504	0.0					ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(4912-4914)aCg>aTg		polycystin (PKD) family receptor for egg jelly		G	MET/THR	0,4406		0,0,2203	90.0	86.0	88.0		4913	0.3	0.0	22		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	PKDREJ	NM_006071.1	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1638/2254	46654307	1,13005	2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654307G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4913C>T	22.37:g.46654307G>A	ENSP00000253255:p.Thr1638Met						p.T1638M	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4912	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1638					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.4913C>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.361256	0.41801	0.0	1.16E-4	ENSG00000130943	ENST00000253255	T	0.37235	1.21	4.97	0.34	0.15985	.	0.800145	0.11021	N	0.608395	T	0.20292	0.0488	L	0.40543	1.245	0.09310	N	1	P	0.49635	0.926	B	0.28139	0.086	T	0.11348	-1.0591	10	0.52906	T	0.07	-1.1528	7.3881	0.26895	0.1457:0.2575:0.5968:0.0	.	1638	Q9NTG1	PKDRE_HUMAN	M	1638	ENSP00000253255:T1638M	ENSP00000253255:T1638M	T	-	2	0	PKDREJ	45032971	0.022000	0.18835	0.000000	0.03702	0.464000	0.32679	2.017000	0.40981	-0.019000	0.14055	0.305000	0.20034	ACG		0.393	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		9	37	0	0	0	1	0	9	37				
SPOP	8405	broad.mit.edu	37	17	47696405	47696405	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr17:47696405C>A	ENST00000393328.2	-	6	783	c.418G>T	c.(418-420)Gat>Tat	p.D140Y	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.D140Y|SPOP_ENST00000504102.1_Missense_Mutation_p.D140Y|SPOP_ENST00000503676.1_Missense_Mutation_p.D140Y|SPOP_ENST00000393331.3_Missense_Mutation_p.D140Y	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	140	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.D140N(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AAAAGAAAATCTCTACGGATG	0.463										Prostate(2;0.17)																												ENST00000393331.3																			1	Substitution - Missense(1)	p.D140N(1)	endometrium(1)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(418-420)Gat>Tat		speckle-type POZ protein							112.0	114.0	113.0					17																	47696405		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696405C>A	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.418G>T	17.37:g.47696405C>A	ENSP00000377001:p.Asp140Tyr	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.D140Y|SPOP_ENST00000503676.1_Missense_Mutation_p.D140Y|SPOP_ENST00000393328.2_Missense_Mutation_p.D140Y|SPOP_ENST00000347630.2_Missense_Mutation_p.D140Y	p.D140Y	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	888	-			140			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.418G>T	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933732	0.92458	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970	T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.75975	0.3923	M	0.91768	3.24	0.80722	D	1	D	0.56287	0.975	D	0.69654	0.965	T	0.80991	-0.1135	10	0.87932	D	0	-8.0833	18.9712	0.92715	0.0:1.0:0.0:0.0	.	140	O43791	SPOP_HUMAN	Y	140;140;140;140;24;140;93;140;140;140	ENSP00000377001:D140Y;ENSP00000377004:D140Y;ENSP00000240327:D140Y;ENSP00000425905:D140Y;ENSP00000420908:D140Y;ENSP00000426986:D140Y;ENSP00000420960:D140Y;ENSP00000426262:D140Y	ENSP00000240327:D140Y	D	-	1	0	SPOP	45051404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.644000	0.83416	2.802000	0.96397	0.563000	0.77884	GAT		0.463	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		108	9	1	0	1.85599e-38	1	2.14764e-38	108	9				
CEP128	145508	broad.mit.edu	37	14	81244369	81244369	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr14:81244369T>C	ENST00000555265.1	-	16	2608	c.2233A>G	c.(2233-2235)Aat>Gat	p.N745D	CEP128_ENST00000281129.3_Missense_Mutation_p.N745D			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	745						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTAGCCATATTCTTCTCTTCT	0.363																																						ENST00000555265.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2233-2235)Aat>Gat		centrosomal protein 128kDa							82.0	83.0	83.0					14																	81244369		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81244369T>C	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2233A>G	14.37:g.81244369T>C	ENSP00000451162:p.Asn745Asp					CEP128_ENST00000281129.3_Missense_Mutation_p.N745D	p.N745D			Q6ZU80	CE128_HUMAN			16	2608	-			745					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.2233A>G	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.293613	0.60086	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.32988	1.43;1.43	4.97	4.97	0.65823	.	0.137318	0.48767	D	0.000165	T	0.28134	0.0694	L	0.50333	1.59	0.80722	D	1	P	0.46859	0.885	B	0.40066	0.318	T	0.04281	-1.0963	10	0.31617	T	0.26	.	12.875	0.57986	0.0:0.0:0.0:1.0	.	745	Q6ZU80	CE128_HUMAN	D	745	ENSP00000281129:N745D;ENSP00000451162:N745D	ENSP00000281129:N745D	N	-	1	0	CEP128	80314122	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	3.307000	0.51888	1.855000	0.53841	0.533000	0.62120	AAT		0.363	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		25	24	0	0	0	1	0	25	24				
GIMAP1	170575	broad.mit.edu	37	7	150417642	150417642	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr7:150417642C>T	ENST00000307194.5	+	3	690	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	184	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCGGGGGCCGGGTCTGTGC	0.677																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(550-552)Cgg>Tgg		GTPase, IMAP family member 1							31.0	38.0	35.0					7																	150417642		2202	4299	6501	SO:0001583	missense	170575							g.chr7:150417642C>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.550C>T	7.37:g.150417642C>T	ENSP00000302833:p.Arg184Trp						p.R184W	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	690	+								B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.550C>T	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168944	0.38315	.	.	ENSG00000213203	ENST00000307194	T	0.22945	1.93	4.81	2.84	0.33178	AIG1 (1);	0.080126	0.44097	U	0.000497	T	0.61912	0.2385	H	0.97465	4.01	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59273	-0.7485	10	0.87932	D	0	.	9.8215	0.40885	0.4043:0.5957:0.0:0.0	.	184	Q8WWP7	GIMA1_HUMAN	W	184	ENSP00000302833:R184W	ENSP00000302833:R184W	R	+	1	2	GIMAP1	150048575	0.030000	0.19436	0.662000	0.29724	0.180000	0.23129	0.237000	0.17985	1.202000	0.43218	0.650000	0.86243	CGG		0.677	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		19	44	0	0	0	1	0	19	44				
TOX	9760	broad.mit.edu	37	8	59851928	59851928	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr8:59851928A>G	ENST00000361421.1	-	3	564	c.344T>C	c.(343-345)cTc>cCc	p.L115P		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	115						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GATTTCAGGGAGGTCCATGTT	0.478																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(343-345)cTc>cCc		thymocyte selection-associated high mobility group box							138.0	130.0	133.0					8																	59851928		2203	4300	6503	SO:0001583	missense	9760					nucleus	DNA binding	g.chr8:59851928A>G		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.344T>C	8.37:g.59851928A>G	ENSP00000354842:p.Leu115Pro						p.L115P	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			3	564	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	115					Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	c.344T>C	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.722959	0.68959	.	.	ENSG00000198846	ENST00000361421	T	0.52295	0.67	5.62	5.62	0.85841	.	0.086423	0.48767	D	0.000174	T	0.66809	0.2827	M	0.69358	2.11	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.67201	-0.5730	9	.	.	.	.	15.8247	0.78690	1.0:0.0:0.0:0.0	.	115	O94900	TOX_HUMAN	P	115	ENSP00000354842:L115P	.	L	-	2	0	TOX	60014482	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.726000	0.84824	2.151000	0.67156	0.482000	0.46254	CTC		0.478	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		8	141	0	0	0	1	0	8	141				
COL4A4	1286	broad.mit.edu	37	2	227896894	227896894	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr2:227896894G>A	ENST00000396625.3	-	39	3883	c.3676C>T	c.(3676-3678)Cgt>Tgt	p.R1226C	COL4A4_ENST00000329662.7_Missense_Mutation_p.R1226C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1226	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTCTTTCCACGAGGACCTGGA	0.527																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(3676-3678)Cgt>Tgt		collagen, type IV, alpha 4							70.0	72.0	71.0					2																	227896894		1839	4083	5922	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227896894G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3676C>T	2.37:g.227896894G>A	ENSP00000379866:p.Arg1226Cys					COL4A4_ENST00000329662.7_Missense_Mutation_p.R1226C	p.R1226C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	39	3883	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1226			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.3676C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	g	3.629	-0.075933	0.07184	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94330	-3.4;-3.32	5.5	0.308	0.15815	.	.	.	.	.	D	0.89501	0.6733	M	0.62209	1.925	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.79555	-0.1755	9	0.59425	D	0.04	.	3.6729	0.08280	0.5783:0.0:0.2672:0.1545	.	1226	P53420	CO4A4_HUMAN	C	1226	ENSP00000379866:R1226C;ENSP00000328553:R1226C	ENSP00000328553:R1226C	R	-	1	0	COL4A4	227605138	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	0.599000	0.24089	-0.171000	0.10797	-0.295000	0.09555	CGT		0.527	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		38	31	0	0	0	1	0	38	31				
TGM5	9333	broad.mit.edu	37	15	43531185	43531185	+	Missense_Mutation	SNP	G	G	A	rs141830093	byFrequency	TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr15:43531185G>A	ENST00000220420.5	-	9	1182	c.1175C>T	c.(1174-1176)aCg>aTg	p.T392M	TGM5_ENST00000349114.4_Missense_Mutation_p.T310M	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	392					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CACAAAGGGCGTGTCATAGTT	0.557													G|||	3	0.000599042	0.0	0.0	5008	,	,		20282	0.001		0.0	False		,,,				2504	0.002					ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(1174-1176)aCg>aTg		transglutaminase 5	L-Glutamine(DB00130)	G	MET/THR,MET/THR	0,4404		0,0,2202	157.0	118.0	131.0		929,1175	4.1	0.4	15	dbSNP_134	131	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	TGM5	NM_004245.3,NM_201631.3	81,81	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	310/639,392/721	43531185	1,13001	2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43531185G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1175C>T	15.37:g.43531185G>A	ENSP00000220420:p.Thr392Met					TGM5_ENST00000349114.4_Missense_Mutation_p.T310M	p.T392M	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	9	1182	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	392					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.1175C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	6.614	0.481651	0.12581	0.0	1.16E-4	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.63255	-0.03;-0.03	5.02	4.11	0.48088	.	0.260506	0.38164	N	0.001787	T	0.69744	0.3145	L	0.48362	1.52	0.21579	N	0.99963	D;D	0.89917	1.0;1.0	D;D	0.76575	0.983;0.988	T	0.59794	-0.7387	10	0.30078	T	0.28	-13.3662	11.2112	0.48799	0.0885:0.0:0.9115:0.0	.	310;392	O43548-2;O43548	.;TGM5_HUMAN	M	392;310;391	ENSP00000220420:T392M;ENSP00000220419:T310M	ENSP00000220420:T392M	T	-	2	0	TGM5	41318477	0.034000	0.19679	0.383000	0.26132	0.000000	0.00434	0.971000	0.29396	1.363000	0.46019	-0.253000	0.11424	ACG		0.557	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		4	40	0	0	0	1	0	4	40				
IGFBPL1	347252	broad.mit.edu	37	9	38411522	38411522	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr9:38411522C>A	ENST00000377694.1	-	4	734	c.712G>T	c.(712-714)Gag>Tag	p.E238*		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	238	Ig-like C2-type.				regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		TACACACCCTCATCCTCCTTT	0.448																																						ENST00000377694.1																			0				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(712-714)Gag>Tag		insulin-like growth factor binding protein-like 1							111.0	93.0	99.0					9																	38411522		2203	4300	6503	SO:0001587	stop_gained	347252				regulation of cell growth	extracellular region	insulin-like growth factor binding	g.chr9:38411522C>A		CCDS35017.1	9p12	2013-01-11			ENSG00000137142	ENSG00000137142		"""Immunoglobulin superfamily / I-set domain containing"""	20081	protein-coding gene	gene with protein product		610413					Standard	NM_001007563		Approved	bA113O24.1	uc004aaz.3	Q8WX77	OTTHUMG00000019937	ENST00000377694.1:c.712G>T	9.37:g.38411522C>A	ENSP00000366923:p.Glu238*						p.E238*	NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN		GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)	4	734	-			238			Ig-like C2-type.			Nonsense_Mutation	SNP	ENST00000377694.1	37	c.712G>T	CCDS35017.1	.	.	.	.	.	.	.	.	.	.	C	34	5.409099	0.96072	.	.	ENSG00000137142	ENST00000377694	.	.	.	6.17	5.26	0.73747	.	0.000000	0.46442	U	0.000299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-4.5459	13.397	0.60858	0.0:0.8426:0.1574:0.0	.	.	.	.	X	238	.	ENSP00000366923:E238X	E	-	1	0	IGFBPL1	38401522	0.798000	0.28890	0.967000	0.41034	0.825000	0.46686	1.813000	0.38962	1.585000	0.49928	0.655000	0.94253	GAG		0.448	IGFBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052491.1	XM_294567		11	17	1	0	1.08611e-07	1	1.14253e-07	11	17				
CST2	1470	broad.mit.edu	37	20	23807168	23807168	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr20:23807168C>T	ENST00000304725.2	-	1	200	c.130G>A	c.(130-132)Gta>Ata	p.V44I		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	44					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						GCACGCTGTACCCGCTCATCA	0.592																																					Pancreas(193;496 3017 22514 29918)	ENST00000304725.2																			0				breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						c.(130-132)Gta>Ata		cystatin SA							133.0	107.0	116.0					20																	23807168		2203	4300	6503	SO:0001583	missense	1470					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23807168C>T	M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"""cystatin 2"""	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.130G>A	20.37:g.23807168C>T	ENSP00000307540:p.Val44Ile						p.V44I	NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN			1	200	-			44					Q9UCQ7	Missense_Mutation	SNP	ENST00000304725.2	37	c.130G>A	CCDS13161.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269295	0.40095	.	.	ENSG00000170369	ENST00000304725	T	0.30714	1.52	2.05	2.05	0.26809	Proteinase inhibitor I25, cystatin (2);	0.358722	0.26007	N	0.026919	T	0.43743	0.1261	M	0.63843	1.955	0.09310	N	1	P	0.52842	0.956	P	0.62435	0.902	T	0.09930	-1.0652	10	0.54805	T	0.06	.	7.5846	0.27985	0.0:1.0:0.0:0.0	.	44	P09228	CYTT_HUMAN	I	44	ENSP00000307540:V44I	ENSP00000307540:V44I	V	-	1	0	CST2	23755168	0.021000	0.18746	0.012000	0.15200	0.016000	0.09150	0.938000	0.28965	1.157000	0.42530	0.298000	0.19748	GTA		0.592	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2			29	37	0	0	0	1	0	29	37				
GFOD1	54438	broad.mit.edu	37	6	13365867	13365867	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:13365867C>T	ENST00000379287.3	-	2	945	c.281G>A	c.(280-282)cGc>cAc	p.R94H	GFOD1_ENST00000379284.1_5'UTR	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	94						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			CGTGGCCGTGCGGTCGCAGAT	0.657																																						ENST00000379287.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18						c.(280-282)cGc>cAc		glucose-fructose oxidoreductase domain containing 1							47.0	49.0	48.0					6																	13365867		2199	4283	6482	SO:0001583	missense	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13365867C>T	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.281G>A	6.37:g.13365867C>T	ENSP00000368589:p.Arg94His					GFOD1_ENST00000379284.1_5'UTR	p.R94H	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		2	945	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	94					A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	c.281G>A	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.223312	0.79464	.	.	ENSG00000145990	ENST00000379287	T	0.22743	1.94	5.2	4.33	0.51752	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	L	0.51422	1.61	0.58432	D	0.999995	P	0.46512	0.879	P	0.50109	0.631	T	0.01262	-1.1402	10	0.87932	D	0	-2.569	12.5599	0.56275	0.0:0.9197:0.0:0.0803	.	94	Q9NXC2	GFOD1_HUMAN	H	94	ENSP00000368589:R94H	ENSP00000368589:R94H	R	-	2	0	GFOD1	13473846	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.064000	0.71169	1.180000	0.42898	0.650000	0.86243	CGC		0.657	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		32	74	0	0	0	1	0	32	74				
PKNOX2	63876	broad.mit.edu	37	11	125301240	125301240	+	Silent	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr11:125301240G>A	ENST00000298282.9	+	13	1642	c.1371G>A	c.(1369-1371)acG>acA	p.T457T	PKNOX2_ENST00000542175.1_Silent_p.T393T|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	457					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AGCTGCAGACGACAAATGTCA	0.582																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(1369-1371)acG>acA		PBX/knotted 1 homeobox 2							52.0	59.0	56.0					11																	125301240		2172	4255	6427	SO:0001819	synonymous_variant	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125301240G>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1371G>A	11.37:g.125301240G>A						PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Silent_p.T393T	p.T457T	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	13	1642	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	457					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	ENST00000298282.9	37	c.1371G>A	CCDS41730.1																																																																																				0.582	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			28	20	0	0	0	1	0	28	20				
ALAS2	212	broad.mit.edu	37	X	55042071	55042071	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chrX:55042071C>T	ENST00000330807.5	-	8	1245	c.1108G>A	c.(1108-1110)Gct>Act	p.A370T	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.A357T|ALAS2_ENST00000335854.4_Missense_Mutation_p.A333T	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	370					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CCAATCCCAGCGCCCCGGGAC	0.527																																						ENST00000330807.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(1108-1110)Gct>Act		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						89.0	76.0	81.0					X																	55042071		2203	4300	6503	SO:0001583	missense	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55042071C>T		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1108G>A	X.37:g.55042071C>T	ENSP00000332369:p.Ala370Thr					ALAS2_ENST00000335854.4_Missense_Mutation_p.A333T|ALAS2_ENST00000396198.3_Missense_Mutation_p.A357T|ALAS2_ENST00000498636.1_5'UTR	p.A370T	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN			8	1245	-			370					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.1108G>A	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012126	0.93346	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.92446	-3.04;-3.04;-3.04	5.75	5.75	0.90469	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97077	0.9045	M	0.93016	3.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.992;0.995	D	0.97796	1.0241	10	0.87932	D	0	-11.6258	17.8507	0.88746	0.0:1.0:0.0:0.0	.	333;357;370	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	T	370;357;333	ENSP00000332369:A370T;ENSP00000379501:A357T;ENSP00000337131:A333T	ENSP00000332369:A370T	A	-	1	0	ALAS2	55058796	1.000000	0.71417	0.993000	0.49108	0.825000	0.46686	7.818000	0.86416	2.576000	0.86940	0.594000	0.82650	GCT		0.527	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		27	53	0	0	0	1	0	27	53				
FAM24B	196792	broad.mit.edu	37	10	124608784	124608784	+	Silent	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr10:124608784G>A	ENST00000368898.3	-	4	554	c.264C>T	c.(262-264)tgC>tgT	p.C88C	CUZD1_ENST00000368904.1_5'UTR|FAM24B_ENST00000462859.1_5'UTR|FAM24B_ENST00000368896.1_Silent_p.C88C|CUZD1_ENST00000545804.1_Intron	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	88						extracellular region (GO:0005576)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		CATTTATGTCGCAACAGCAAG	0.448																																						ENST00000368898.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(262-264)tgC>tgT		family with sequence similarity 24, member B							117.0	98.0	104.0					10																	124608784		2203	4300	6503	SO:0001819	synonymous_variant	196792					extracellular region		g.chr10:124608784G>A	BC031343	CCDS31303.1	10q26.13	2004-05-27			ENSG00000213185	ENSG00000213185			23475	protein-coding gene	gene with protein product						12477932	Standard	NM_152644		Approved	MGC45962, AC073585.2	uc021qai.1	Q8N5W8	OTTHUMG00000019194	ENST00000368898.3:c.264C>T	10.37:g.124608784G>A						FAM24B_ENST00000462859.1_5'UTR|CUZD1_ENST00000368904.1_5'UTR|FAM24B_ENST00000368896.1_Silent_p.C88C|CUZD1_ENST00000545804.1_Intron	p.C88C	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)	4	554	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	88					Q5JPG1	Silent	SNP	ENST00000368898.3	37	c.264C>T	CCDS31303.1																																																																																				0.448	FAM24B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050825.1	NM_152644		14	41	0	0	0	1	0	14	41				
AMER2	219287	broad.mit.edu	37	13	25744725	25744725	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr13:25744725C>T	ENST00000515384.1	-	1	1700	c.1033G>A	c.(1033-1035)Gcc>Acc	p.A345T	AMER2_ENST00000357816.2_Intron|AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Intron			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	345					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										GGGTCTggggcggcgggcgcc	0.627																																						ENST00000515384.1																			0											c.(1033-1035)Gcc>Acc		APC membrane recruitment protein 2							18.0	22.0	20.0					13																	25744725		1013	2118	3131	SO:0001583	missense	219287							g.chr13:25744725C>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1033G>A	13.37:g.25744725C>T	ENSP00000426528:p.Ala345Thr					AMER2_ENST00000381853.3_Intron|AMER2_ENST00000357816.2_Intron	p.A345T							1	1700	-								Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.1033G>A	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	2.987	-0.209079	0.06140	.	.	ENSG00000165566	ENST00000515384	T	0.25749	1.78	3.47	1.68	0.24146	.	.	.	.	.	T	0.12561	0.0305	L	0.34521	1.04	0.43545	D	0.995847	P	0.38110	0.618	B	0.26614	0.071	T	0.18023	-1.0350	9	0.15499	T	0.54	.	7.187	0.25804	0.0:0.7283:0.173:0.0987	.	345	Q8N7J2	F123A_HUMAN	T	345	ENSP00000426528:A345T	ENSP00000426528:A345T	A	-	1	0	FAM123A	24642725	0.060000	0.20803	0.415000	0.26534	0.130000	0.20726	0.677000	0.25262	0.187000	0.20147	-0.502000	0.04539	GCC		0.627	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		8	18	0	0	0	1	0	8	18				
MT-ND4	4538	broad.mit.edu	37	M	11120	11120	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chrM:11120T>C	ENST00000361381.2	+	1	361	c.361T>C	c.(361-363)Ttc>Ctc	p.F121L	MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TG_ENST00000387429.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	121					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(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						TATTTTATATCTTCTTCGAAA	0.418																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(361-363)Ttc>Ctc		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001583	missense	4538							g.chrM:11120T>C			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.361T>C	M.37:g.11120T>C	ENSP00000354961:p.Phe121Leu						p.121_121insL							1	361	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.361T>C																																																																																					0.418	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		28	112	0	0	0	1	0	28	112				
HOOK3	84376	broad.mit.edu	37	8	42761327	42761327	+	Missense_Mutation	SNP	T	T	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr8:42761327T>A	ENST00000307602.4	+	2	269	c.69T>A	c.(67-69)ttT>ttA	p.F23L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	23	Sufficient for interaction with microtubules.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TCCAGACATTTAATGTGGATG	0.398			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(67-69)ttT>ttA		hook microtubule-tethering protein 3							92.0	94.0	93.0					8																	42761327		2203	4300	6503	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42761327T>A	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.69T>A	8.37:g.42761327T>A	ENSP00000305699:p.Phe23Leu						p.F23L	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		2	269	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	23			Sufficient for interaction with microtubules.		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.69T>A	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.664838	0.88251	.	.	ENSG00000168172	ENST00000307602	T	0.52983	0.64	5.5	5.5	0.81552	.	0.048532	0.85682	N	0.000000	T	0.59321	0.2185	L	0.43646	1.37	0.49130	D	0.999759	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.55547	-0.8124	10	0.31617	T	0.26	-10.3357	13.417	0.60974	0.0:0.0:0.0:1.0	.	23;23	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	L	23	ENSP00000305699:F23L	ENSP00000305699:F23L	F	+	3	2	HOOK3	42880484	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	2.875000	0.48491	2.206000	0.71126	0.528000	0.53228	TTT		0.398	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		8	290	0	0	0	1	0	8	290				
NBPF10	100132406	broad.mit.edu	37	1	145293414	145293414	+	Silent	SNP	A	A	G			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:145293414A>G	ENST00000369339.3	+	3	262	c.9A>G	c.(7-9)gtA>gtG	p.V3V	NBPF10_ENST00000342960.5_Silent_p.V3V|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	274						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCATGGTGGTATCAGCCGGCC	0.493																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(7-9)gtA>gtG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145293414A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.9A>G	1.37:g.145293414A>G						RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Silent_p.V3V	p.V3V	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	44	+	all_hematologic(923;0.032)		3					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.9A>G																																																																																					0.493	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		38	921	0	0	0	1	0	38	921				
EPPK1	83481	broad.mit.edu	37	8	144941352	144941352	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr8:144941352G>A	ENST00000525985.1	-	2	6141	c.6070C>T	c.(6070-6072)Cgg>Tgg	p.R2024W				P58107	EPIPL_HUMAN	epiplakin 1	2024						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGTGGGAGCCGGTGGTGGTGC	0.612																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6070-6072)Cgg>Tgg		epiplakin 1																																				SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941352G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6070C>T	8.37:g.144941352G>A	ENSP00000436337:p.Arg2024Trp						p.R2024W			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6141	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2024					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6070C>T		.	.	.	.	.	.	.	.	.	.	G	17.63	3.437112	0.62955	.	.	ENSG00000227184	ENST00000525985	T	0.79454	-1.27	4.68	4.68	0.58851	.	.	.	.	.	D	0.89382	0.6699	M	0.88241	2.94	0.39653	D	0.970492	D	0.89917	1.0	D	0.97110	1.0	D	0.91727	0.5393	9	0.66056	D	0.02	.	15.1066	0.72326	0.0:0.0:1.0:0.0	.	2024	E9PPU0	.	W	2024	ENSP00000436337:R2024W	ENSP00000436337:R2024W	R	-	1	2	EPPK1	145013340	1.000000	0.71417	0.991000	0.47740	0.191000	0.23601	2.309000	0.43699	2.424000	0.82194	0.585000	0.79938	CGG		0.612	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	100	0	0	0	1	0	6	100				
MUC3A	4584	broad.mit.edu	37	7	100551690	100551690	+	Silent	SNP	T	T	G			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr7:100551690T>G	ENST00000319509.7	+	1	441	c.441T>G	c.(439-441)ccT>ccG	p.P147P				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	1812	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AAACATCTCCTGCACCTACTA	0.493																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(439-441)ccT>ccG		mucin 3A, cell surface associated							748.0	701.0	715.0					7																	100551690		876	1991	2867	SO:0001819	synonymous_variant	4584							g.chr7:100551690T>G	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.441T>G	7.37:g.100551690T>G							p.P147P							1	441	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Silent	SNP	ENST00000319509.7	37	c.441T>G																																																																																					0.493	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		12	392	0	0	0	1	0	12	392				
GMIP	51291	broad.mit.edu	37	19	19741121	19741121	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr19:19741121G>C	ENST00000203556.4	-	21	2701	c.2564C>G	c.(2563-2565)tCa>tGa	p.S855*	GMIP_ENST00000587238.1_Nonsense_Mutation_p.S829*|GMIP_ENST00000445806.2_Nonsense_Mutation_p.S826*|LPAR2_ENST00000407877.3_5'Flank|LPAR2_ENST00000586703.1_5'Flank|LPAR2_ENST00000589311.1_5'Flank|LPAR2_ENST00000542587.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	855					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCCCAGGAGTGAGTCCTCTGG	0.607																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(2563-2565)tCa>tGa		GEM interacting protein							44.0	50.0	48.0					19																	19741121		2203	4300	6503	SO:0001587	stop_gained	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19741121G>C	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.2564C>G	19.37:g.19741121G>C	ENSP00000203556:p.Ser855*					GMIP_ENST00000445806.2_Nonsense_Mutation_p.S826*|GMIP_ENST00000587238.1_Nonsense_Mutation_p.S829*	p.S855*	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			21	2701	-			855					A0AVN9|B7ZLZ0	Nonsense_Mutation	SNP	ENST00000203556.4	37	c.2564C>G	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	G	34	5.386470	0.95967	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	.	.	.	5.29	0.619	0.17630	.	1.004140	0.08032	N	0.993756	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-0.0992	7.3862	0.26884	0.3702:0.0:0.6298:0.0	.	.	.	.	X	855;826	.	ENSP00000203556:S855X	S	-	2	0	GMIP	19602121	0.488000	0.25996	0.019000	0.16419	0.628000	0.37860	1.651000	0.37302	-0.046000	0.13446	-0.459000	0.05422	TCA		0.607	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		18	69	0	0	0	1	0	18	69				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		5	64	0	0	0	1	0	5	64				
HUWE1	10075	broad.mit.edu	37	X	53674334	53674334	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chrX:53674334G>C	ENST00000342160.3	-	5	785	c.328C>G	c.(328-330)Cgg>Ggg	p.R110G	HUWE1_ENST00000262854.6_Missense_Mutation_p.R110G|HUWE1_ENST00000218328.8_Missense_Mutation_p.R110G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	110					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TACAGATGCCGGGAAAAGCTG	0.438																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(328-330)Cgg>Ggg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							96.0	75.0	82.0					X																	53674334		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53674334G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.328C>G	X.37:g.53674334G>C	ENSP00000340648:p.Arg110Gly					HUWE1_ENST00000262854.6_Missense_Mutation_p.R110G|HUWE1_ENST00000218328.8_Missense_Mutation_p.R110G	p.R110G			Q7Z6Z7	HUWE1_HUMAN			5	785	-			110					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.328C>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238257	0.79800	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528	T;T;T	0.65732	-0.12;-0.12;-0.17	5.6	5.6	0.85130	Armadillo-like helical (1);E3 ubiquitin ligase, domain of unknown function DUF908 (1);	0.000000	0.64402	D	0.000001	T	0.80844	0.4701	M	0.79693	2.465	0.53688	D	0.999971	D	0.89917	1.0	D	0.91635	0.999	D	0.83528	0.0089	10	0.87932	D	0	.	17.3006	0.87182	0.0:0.0:1.0:0.0	.	110	Q7Z6Z7	HUWE1_HUMAN	G	110	ENSP00000340648:R110G;ENSP00000262854:R110G;ENSP00000218328:R110G	ENSP00000218328:R110G	R	-	1	2	HUWE1	53691059	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.374000	0.59543	2.353000	0.79882	0.600000	0.82982	CGG		0.438	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		25	26	0	0	0	1	0	25	26				
SULT1C3	442038	broad.mit.edu	37	2	108868909	108868909	+	Silent	SNP	C	C	T	rs201163943		TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr2:108868909C>T	ENST00000329106.2	+	2	261	c.261C>T	c.(259-261)caC>caT	p.H87H	SULT1C3_ENST00000376700.1_Silent_p.H87H	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	87					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TAGATAGACACGCTTTCCTTG	0.373																																						ENST00000329106.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(259-261)caC>caT		sulfotransferase family, cytosolic, 1C, member 3							75.0	74.0	74.0					2																	108868909		2203	4300	6503	SO:0001819	synonymous_variant	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108868909C>T	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.261C>T	2.37:g.108868909C>T						SULT1C3_ENST00000376700.1_Silent_p.H87H	p.H87H	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN			2	261	+			87					Q6IMI5	Silent	SNP	ENST00000329106.2	37	c.261C>T	CCDS33267.1																																																																																				0.373	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		12	25	0	0	0	1	0	12	25				
BCLAF1	9774	broad.mit.edu	37	6	136589310	136589310	+	Missense_Mutation	SNP	C	C	G	rs548504420		TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:136589310C>G	ENST00000531224.1	-	10	2639	c.2387G>C	c.(2386-2388)cGa>cCa	p.R796P	BCLAF1_ENST00000530767.1_Missense_Mutation_p.R623P|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R14P|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R796P|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R794P|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R794P|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R794P	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	796					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAAGGTTCCTCGTGGTCGGCT	0.358																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2386-2388)cGa>cCa		BCL2-associated transcription factor 1							169.0	160.0	163.0					6																	136589310		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136589310C>G	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2387G>C	6.37:g.136589310C>G	ENSP00000435210:p.Arg796Pro					BCLAF1_ENST00000031135.9_Missense_Mutation_p.R14P|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R794P|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R794P|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R794P|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R796P|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R623P	p.R796P	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	10	2639	-	Colorectal(23;0.24)		796					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2387G>C	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512908	0.85389	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348	T;T;T;T;T;T;T	0.55052	2.26;2.64;2.65;1.99;2.25;0.54;2.64	5.5	5.5	0.81552	.	0.000000	0.50627	D	0.000110	T	0.64204	0.2577	L	0.49126	1.545	0.54753	D	0.999984	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.998	D;D;D;D;D	0.91635	0.995;0.999;0.995;0.995;0.986	T	0.66618	-0.5878	10	0.87932	D	0	-3.812	19.3908	0.94581	0.0:1.0:0.0:0.0	.	794;124;794;796;623	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;.;BCLF1_HUMAN;.	P	796;794;796;623;794;14;794	ENSP00000435210:R796P;ENSP00000229446:R794P;ENSP00000435441:R796P;ENSP00000436501:R623P;ENSP00000434826:R794P;ENSP00000031135:R14P;ENSP00000376159:R794P	ENSP00000031135:R14P	R	-	2	0	BCLAF1	136631003	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.585000	0.60977	2.602000	0.87976	0.484000	0.47621	CGA		0.358	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		48	77	0	0	0	1	0	48	77				
ZNF804B	219578	broad.mit.edu	37	7	88963677	88963677	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr7:88963677C>A	ENST00000333190.4	+	4	1990	c.1381C>A	c.(1381-1383)Ctt>Att	p.L461I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	461							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCCTACGGAACTTCTGCTCTT	0.423										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1381-1383)Ctt>Att		zinc finger protein 804B							74.0	70.0	71.0					7																	88963677		2199	4300	6499	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963677C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1381C>A	7.37:g.88963677C>A	ENSP00000329638:p.Leu461Ile	HNSCC(36;0.09)					p.L461I	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1990	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		461					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1381C>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003782	0.74932	.	.	ENSG00000182348	ENST00000333190	T	0.12672	2.66	5.49	5.49	0.81192	.	0.000000	0.53938	D	0.000043	T	0.38134	0.1029	M	0.77820	2.39	0.49483	D	0.999799	D	0.89917	1.0	D	0.87578	0.998	T	0.07328	-1.0778	10	0.72032	D	0.01	-15.9533	13.231	0.59943	0.0:0.9186:0.0:0.0814	.	461	A4D1E1	Z804B_HUMAN	I	461	ENSP00000329638:L461I	ENSP00000329638:L461I	L	+	1	0	ZNF804B	88801613	1.000000	0.71417	0.998000	0.56505	0.822000	0.46500	4.534000	0.60622	2.865000	0.98341	0.655000	0.94253	CTT		0.423	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		17	39	1	0	1.37285e-15	1	1.48268e-15	17	39				
ANXA13	312	broad.mit.edu	37	8	124693594	124693594	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr8:124693594G>T	ENST00000419625.1	-	11	909	c.837C>A	c.(835-837)gaC>gaA	p.D279E	ANXA13_ENST00000262219.6_Missense_Mutation_p.D320E	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	279					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCCCTGAAGGTCCACCTGTA	0.438																																						ENST00000262219.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(958-960)gaC>gaA		annexin A13							142.0	151.0	148.0					8																	124693594		2203	4300	6503	SO:0001583	missense	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124693594G>T	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.837C>A	8.37:g.124693594G>T	ENSP00000390809:p.Asp279Glu					ANXA13_ENST00000419625.1_Missense_Mutation_p.D279E	p.D320E	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		12	1027	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		279					Q9BQR5	Missense_Mutation	SNP	ENST00000419625.1	37	c.960C>A	CCDS47917.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177056	0.38413	.	.	ENSG00000104537	ENST00000262219;ENST00000419625	T;T	0.03553	3.89;3.89	5.57	3.46	0.39613	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.10594	0.0259	L	0.46670	1.46	0.47308	D	0.999384	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.01879	-1.1255	10	0.87932	D	0	.	7.7702	0.29004	0.2597:0.0:0.7403:0.0	.	279;320	P27216;P27216-2	ANX13_HUMAN;.	E	320;279	ENSP00000262219:D320E;ENSP00000390809:D279E	ENSP00000262219:D320E	D	-	3	2	ANXA13	124762775	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	1.594000	0.36697	1.370000	0.46153	-0.136000	0.14681	GAC		0.438	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		48	294	1	0	3.77016e-25	1	4.30117e-25	48	294				
RPL31P11	641311	broad.mit.edu	37	1	161654728	161654728	+	RNA	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:161654728G>A	ENST00000426558.1	-	0	314					NR_002595.1				ribosomal protein L31 pseudogene 11																		TCCTCATTACGTTTTCGGGAC	0.438																																						ENST00000426558.1																			0																																																			0							g.chr1:161654728G>A			1q23.3	2010-06-16			ENSG00000213075	ENSG00000213075			35849	pseudogene	pseudogene						19123937	Standard	NR_002595		Approved		uc001gbc.3		OTTHUMG00000034536		1.37:g.161654728G>A								NR_002595.1						0	314	-									RNA	SNP	ENST00000426558.1	37																																																																																						0.438	RPL31P11-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347090.2	NR_002595		20	18	0	0	0	1	0	20	18				
PCSK5	5125	broad.mit.edu	37	9	78790136	78790136	+	Intron	SNP	T	T	C	rs62556589		TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr9:78790136T>C	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Missense_Mutation_p.M664T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						tggaatggaatgaaatggaat	0.423																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1990-1992)aTg>aCg		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790136T>C		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+91T>C	9.37:g.78790136T>C						PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron	p.M664T			Q92824	PCSK5_HUMAN			14	2503	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1991T>C	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.632416	0.00806	.	.	ENSG00000099139	ENST00000376767;ENST00000396108	T	0.72282	-0.64	.	.	.	.	.	.	.	.	T	0.50514	0.1620	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.30001	-0.9993	6	0.24483	T	0.36	.	.	.	.	rs62556589	664	B1AMG5	.	T	664	ENSP00000365958:M664T	ENSP00000365958:M664T	M	+	2	0	PCSK5	77979956	0.008000	0.16893	0.036000	0.18154	0.039000	0.13416	-0.019000	0.12546	0.228000	0.21019	0.225000	0.17782	ATG		0.423	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	23	0	0	0	1	0	4	23				
FCRL5	83416	broad.mit.edu	37	1	157516848	157516848	+	Missense_Mutation	SNP	T	T	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:157516848T>A	ENST00000361835.3	-	3	349	c.192A>T	c.(190-192)aaA>aaT	p.K64N	FCRL5_ENST00000368190.3_Missense_Mutation_p.K64N|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368188.2_Missense_Mutation_p.K64N|FCRL5_ENST00000368189.3_Missense_Mutation_p.K64N|FCRL5_ENST00000356953.4_Missense_Mutation_p.K64N	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	64	Ig-like C2-type 1.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTAGTATTTCTTTCCCAAGGT	0.502																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(190-192)aaA>aaT		Fc receptor-like 5							125.0	123.0	124.0					1																	157516848		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157516848T>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.192A>T	1.37:g.157516848T>A	ENSP00000354691:p.Lys64Asn					FCRL5_ENST00000356953.4_Missense_Mutation_p.K64N|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368188.2_Missense_Mutation_p.K64N|FCRL5_ENST00000368190.3_Missense_Mutation_p.K64N|FCRL5_ENST00000368189.3_Missense_Mutation_p.K64N	p.K64N	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			3	349	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	64			Ig-like C2-type 1.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.192A>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	T	8.353	0.831279	0.16820	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368189;ENST00000368188	T;T;T;T;T	0.03272	3.99;3.99;3.99;3.99;3.99	5.01	-10.0	0.00425	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00384	0.0012	N	0.12853	0.265	0.09310	N	1	B;B;P;B	0.48294	0.01;0.025;0.908;0.236	B;B;B;B	0.37989	0.018;0.055;0.16;0.262	T	0.43048	-0.9415	9	0.25106	T	0.35	.	1.3247	0.02123	0.3415:0.262:0.2591:0.1374	.	64;64;64;64	Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;FCRL5_HUMAN	N	64	ENSP00000354691:K64N;ENSP00000349434:K64N;ENSP00000357173:K64N;ENSP00000357172:K64N;ENSP00000357171:K64N	ENSP00000349434:K64N	K	-	3	2	FCRL5	155783472	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.293000	0.00134	-3.340000	0.00183	-0.323000	0.08544	AAA		0.502	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		23	89	0	0	0	1	0	23	89				
HLA-DRA	3122	broad.mit.edu	37	6	32410986	32410986	+	Missense_Mutation	SNP	C	C	T	rs61117681	byFrequency	TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:32410986C>T	ENST00000395388.2	+	3	462	c.353C>T	c.(352-354)aCa>aTa	p.T118I	HLA-DRA_ENST00000374982.5_Intron	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	118	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						ACTGTGCTCACAAACAGCCCT	0.512									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																													ENST00000395388.2																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(352-354)aCa>aTa		major histocompatibility complex, class II, DR alpha							111.0	80.0	91.0					6																	32410986		1511	2709	4220	SO:0001583	missense	3122	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32410986C>T		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000395388.2:c.353C>T	6.37:g.32410986C>T	ENSP00000378786:p.Thr118Ile					HLA-DRA_ENST00000374982.5_Intron	p.T118I	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN			3	462	+			118			Alpha-2.|Ig-like C1-type.		A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000395388.2	37	c.353C>T	CCDS4750.1	.	.	.	.	.	.	.	.	.	.	.	13.55	2.270329	0.40194	.	.	ENSG00000204287	ENST00000395388	T	0.00608	6.25	5.59	3.53	0.40419	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.193380	0.05833	N	0.617951	T	0.00356	0.0011	L	0.45352	1.415	0.20703	N	0.999864	B	0.20459	0.045	B	0.34038	0.174	T	0.48969	-0.8987	10	0.66056	D	0.02	.	8.6289	0.33906	0.0:0.787:0.0:0.213	.	118	P01903	DRA_HUMAN	I	118	ENSP00000378786:T118I	ENSP00000378786:T118I	T	+	2	0	HLA-DRA	32518964	0.011000	0.17503	0.001000	0.08648	0.167000	0.22549	2.595000	0.46197	0.856000	0.35383	0.638000	0.83543	ACA		0.512	HLA-DRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076586.2	NM_019111		7	57	0	0	0	1	0	7	57				
TNFAIP3	7128	broad.mit.edu	37	6	138200072	138200072	+	Missense_Mutation	SNP	G	G	A	rs201074555		TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:138200072G>A	ENST00000237289.4	+	7	1556	c.1490G>A	c.(1489-1491)cGt>cAt	p.R497H		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	497	Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TTTTGTGAACGTTGCCACAAC	0.597			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"""D, N, F"""	"""tumor necrosis factor, alpha-induced protein 3"""			L			"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""		25	Whole gene deletion(25)	p.0?(25)	haematopoietic_and_lymphoid_tissue(25)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(1489-1491)cGt>cAt		tumor necrosis factor, alpha-induced protein 3		G	HIS/ARG	0,4406		0,0,2203	46.0	48.0	47.0		1490	5.8	1.0	6		47	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TNFAIP3	NM_006290.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	497/791	138200072	2,13004	2203	4300	6503	SO:0001583	missense	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138200072G>A	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1490G>A	6.37:g.138200072G>A	ENSP00000237289:p.Arg497His						p.R497H	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	7	1556	+	Breast(32;0.135)|Colorectal(23;0.24)		497			Interaction with NAF1 (By similarity).		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.1490G>A	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676096	0.88445	0.0	2.33E-4	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.43294	0.95	5.79	5.79	0.91817	Zinc finger, A20-type (3);	0.000000	0.85682	D	0.000000	T	0.31231	0.0790	N	0.24115	0.695	0.80722	D	1	D	0.53151	0.958	P	0.49999	0.628	T	0.04440	-1.0951	10	0.46703	T	0.11	-17.7496	18.2081	0.89861	0.0:0.0:1.0:0.0	.	497	P21580	TNAP3_HUMAN	H	497	ENSP00000237289:R497H	ENSP00000237289:R497H	R	+	2	0	TNFAIP3	138241765	1.000000	0.71417	0.968000	0.41197	0.942000	0.58702	8.856000	0.92245	2.731000	0.93534	0.655000	0.94253	CGT		0.597	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			8	61	0	0	0	1	0	8	61				
KIF26B	55083	broad.mit.edu	37	1	245851417	245851417	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:245851417G>A	ENST00000407071.2	+	12	5572	c.5132G>A	c.(5131-5133)gGc>gAc	p.G1711D	KIF26B_ENST00000366518.4_Missense_Mutation_p.G1330D	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1711	Ser-rich.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGAGCCTGGGCCGCAGCGCC	0.746																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3988-3990)gGc>gAc		kinesin family member 26B							4.0	5.0	4.0					1																	245851417		1679	3692	5371	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245851417G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.5132G>A	1.37:g.245851417G>A	ENSP00000385545:p.Gly1711Asp					KIF26B_ENST00000407071.2_Missense_Mutation_p.G1711D	p.G1330D			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	4093	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1711					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.3989G>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910359	0.33721	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77229	-1.08;-1.08	4.89	3.76	0.43208	.	.	.	.	.	T	0.70228	0.3200	L	0.48642	1.525	0.28390	N	0.919141	P;B	0.35745	0.518;0.22	B;B	0.32864	0.154;0.086	T	0.67452	-0.5667	9	0.52906	T	0.07	.	12.0056	0.53257	0.1504:0.0:0.8496:0.0	.	1330;1711	B7WPD9;Q2KJY2	.;KI26B_HUMAN	D	1711;1330;1327	ENSP00000385545:G1711D;ENSP00000355475:G1330D	ENSP00000355475:G1330D	G	+	2	0	KIF26B	243918040	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	1.026000	0.30103	2.281000	0.76405	0.462000	0.41574	GGC		0.746	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		8	6	0	0	0	1	0	8	6				
C11orf1	64776	broad.mit.edu	37	11	111753232	111753232	+	Silent	SNP	T	T	C			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr11:111753232T>C	ENST00000260276.3	+	2	523	c.186T>C	c.(184-186)aaT>aaC	p.N62N	C11orf1_ENST00000528125.1_Silent_p.N16N|C11orf1_ENST00000530214.1_Silent_p.N62N|C11orf1_ENST00000529270.1_Silent_p.N102N	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	62						nucleus (GO:0005634)				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		CTAATGAGAATACCTATTCAA	0.463																																						ENST00000260276.3																			0				kidney(2)|lung(3)	5						c.(184-186)aaT>aaC		chromosome 11 open reading frame 1							134.0	117.0	122.0					11																	111753232		2201	4297	6498	SO:0001819	synonymous_variant	64776					nucleus		g.chr11:111753232T>C	AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720			1163	protein-coding gene	gene with protein product						10873569	Standard	NM_022761		Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000260276.3:c.186T>C	11.37:g.111753232T>C						C11orf1_ENST00000530214.1_Silent_p.N62N|C11orf1_ENST00000528125.1_Silent_p.N16N|C11orf1_ENST00000529270.1_Silent_p.N102N	p.N62N	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)	2	523	+		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)	62					Q6I9X7|Q9NQC6	Silent	SNP	ENST00000260276.3	37	c.186T>C	CCDS8350.1																																																																																				0.463	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391650.1	NM_022761		10	27	0	0	0	1	0	10	27				
ABCC2	1244	broad.mit.edu	37	10	101559103	101559103	+	Missense_Mutation	SNP	C	C	T	rs149854486	byFrequency	TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr10:101559103C>T	ENST00000370449.4	+	8	1120	c.1007C>T	c.(1006-1008)aCg>aTg	p.T336M		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	336	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GACATCTTCACGTTTGTGAGT	0.473													C|||	2	0.000399361	0.0	0.0	5008	,	,		17571	0.0		0.002	False		,,,				2504	0.0					ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(1006-1008)aCg>aTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)		MET/THR	0,4406		0,0,2203	264.0	267.0	266.0		1007	-6.3	0.0	10	dbSNP_134	266	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ABCC2	NM_000392.3	81	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	336/1546	101559103	3,13003	2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101559103C>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1007C>T	10.37:g.101559103C>T	ENSP00000359478:p.Thr336Met						p.T336M	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	8	1120	+		Colorectal(252;0.234)	336			ABC transmembrane type-1 1.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.1007C>T	CCDS7484.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.012	-1.667345	0.00765	0.0	3.49E-4	ENSG00000023839	ENST00000370449	D	0.89552	-2.53	5.76	-6.28	0.02020	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.876385	0.10308	N	0.690337	D	0.82314	0.5010	L	0.45137	1.4	0.09310	N	1	B	0.18863	0.031	B	0.19391	0.025	T	0.62006	-0.6945	10	0.17832	T	0.49	6.5695	15.7631	0.78103	0.0:0.3784:0.0:0.6216	.	336	Q92887	MRP2_HUMAN	M	336	ENSP00000359478:T336M	ENSP00000359478:T336M	T	+	2	0	ABCC2	101549093	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.012000	0.13287	-1.500000	0.01819	-0.459000	0.05422	ACG		0.473	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		15	183	0	0	0	1	0	15	183				
ZMAT4	79698	broad.mit.edu	37	8	40438702	40438702	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr8:40438702C>G	ENST00000297737.6	-	6	802	c.656G>C	c.(655-657)gGa>gCa	p.G219A	ZMAT4_ENST00000315769.7_Missense_Mutation_p.G143A	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	219						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			GTGTTTAGATCCTTTCAGATG	0.408																																						ENST00000297737.6																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(655-657)gGa>gCa		zinc finger, matrin-type 4							209.0	167.0	181.0					8																	40438702		2203	4300	6503	SO:0001583	missense	79698					nucleus	DNA binding|zinc ion binding	g.chr8:40438702C>G	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.656G>C	8.37:g.40438702C>G	ENSP00000297737:p.Gly219Ala					ZMAT4_ENST00000315769.7_Missense_Mutation_p.G143A	p.G219A	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		6	802	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	219					Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	37	c.656G>C	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765763	0.90020	.	.	ENSG00000165061	ENST00000315769;ENST00000297737	T;T	0.71103	-0.54;-0.54	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.051817	0.85682	D	0.000000	D	0.85548	0.5722	M	0.83384	2.64	0.52501	D	0.999951	D;D	0.89917	1.0;0.991	D;P	0.87578	0.998;0.737	D	0.87090	0.2172	10	0.72032	D	0.01	-20.5661	17.2157	0.86943	0.0:1.0:0.0:0.0	.	143;219	Q9H898-2;Q9H898	.;ZMAT4_HUMAN	A	143;219	ENSP00000319785:G143A;ENSP00000297737:G219A	ENSP00000297737:G219A	G	-	2	0	ZMAT4	40557859	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	5.992000	0.70609	2.648000	0.89879	0.655000	0.94253	GGA		0.408	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645		227	31	0	0	0	1	0	227	31				
DNAH11	8701	broad.mit.edu	37	7	21805153	21805153	+	Silent	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr7:21805153G>A	ENST00000409508.3	+	55	9079	c.9048G>A	c.(9046-9048)caG>caA	p.Q3016Q	DNAH11_ENST00000328843.6_Silent_p.Q3023Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3023	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGTGGCCGCAGGAGGCTCTGG	0.542									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(9067-9069)caG>caA		dynein, axonemal, heavy chain 11							90.0	91.0	90.0					7																	21805153		2058	4201	6259	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21805153G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9048G>A	7.37:g.21805153G>A						DNAH11_ENST00000409508.3_Silent_p.Q3016Q	p.Q3023Q			Q96DT5	DYH11_HUMAN			56	9100	+			3023			AAA 4 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.9069G>A																																																																																					0.542	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		15	41	0	0	0	1	0	15	41				
GTF2H1	2965	broad.mit.edu	37	11	18369434	18369434	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr11:18369434G>C	ENST00000265963.4	+	9	1181	c.1021G>C	c.(1021-1023)Gat>Cat	p.D341H	GTF2H1_ENST00000453096.2_Missense_Mutation_p.D341H|GTF2H1_ENST00000534641.1_Missense_Mutation_p.D225H|GTF2H1_ENST00000530496.2_Missense_Mutation_p.D29H|GTF2H1_ENST00000524753.4_Missense_Mutation_p.D137H	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	341					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AAATTCCGGAGATGCAGACTG	0.393								Nucleotide excision repair (NER)																														ENST00000265963.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1021-1023)Gat>Cat	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 1, 62kDa							67.0	67.0	67.0					11																	18369434		2199	4293	6492	SO:0001583	missense	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18369434G>C		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.1021G>C	11.37:g.18369434G>C	ENSP00000265963:p.Asp341His					GTF2H1_ENST00000534641.1_Missense_Mutation_p.D225H|GTF2H1_ENST00000524753.4_Missense_Mutation_p.D137H|GTF2H1_ENST00000530496.2_Missense_Mutation_p.D29H|GTF2H1_ENST00000453096.2_Missense_Mutation_p.D341H	p.D341H	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN			9	1181	+			341					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	c.1021G>C	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528478	0.64860	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000524753;ENST00000530496	T;T;T;T;T	0.52983	1.76;1.76;1.76;0.83;0.64	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.56046	0.1959	L	0.47716	1.5	0.80722	D	1	D	0.57257	0.979	P	0.51777	0.679	T	0.58544	-0.7618	10	0.72032	D	0.01	-21.6265	19.5504	0.95315	0.0:0.0:1.0:0.0	.	341	P32780	TF2H1_HUMAN	H	341;225;341;137;29	ENSP00000393638:D341H;ENSP00000435375:D225H;ENSP00000265963:D341H;ENSP00000436575:D137H;ENSP00000433133:D29H	ENSP00000265963:D341H	D	+	1	0	GTF2H1	18326010	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.197000	0.94985	2.617000	0.88574	0.561000	0.74099	GAT		0.393	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		6	44	0	0	0	1	0	6	44				
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	rs371769427		TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"""CLL, MDS"""																																	ENST00000291552.4				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"""CLL, MDS"""		57	Substitution - Missense(57)	p.S34F(45)|p.S34Y(12)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(100-102)tCt>tTt		U2 small nuclear RNA auxiliary factor 1		G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67.0	64.0	65.0		101,101,	5.5	1.0	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44524456G>A	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe					U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR	p.S34F	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN			2	193	-			34					Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.101C>T	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		13	26	0	0	0	1	0	13	26				
UBXN10	127733	broad.mit.edu	37	1	20517119	20517119	+	Missense_Mutation	SNP	T	T	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:20517119T>A	ENST00000375099.3	+	2	149	c.65T>A	c.(64-66)gTt>gAt	p.V22D		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	22										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						AGCACAGCAGTTGACAGCCTC	0.512																																						ENST00000375099.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						c.(64-66)gTt>gAt		UBX domain protein 10							97.0	86.0	90.0					1																	20517119		2203	4300	6503	SO:0001583	missense	127733							g.chr1:20517119T>A	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"""UBX domain containing"""	26354	protein-coding gene	gene with protein product			"""UBX domain containing 3"""	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.65T>A	1.37:g.20517119T>A	ENSP00000364240:p.Val22Asp						p.V22D	NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN			2	149	+			22					Q5R386	Missense_Mutation	SNP	ENST00000375099.3	37	c.65T>A	CCDS205.1	.	.	.	.	.	.	.	.	.	.	T	2.669	-0.278009	0.05679	.	.	ENSG00000162543	ENST00000375099	.	.	.	3.71	1.65	0.23941	.	0.781969	0.11066	N	0.603484	T	0.27349	0.0671	L	0.29908	0.895	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.21245	-1.0251	9	0.44086	T	0.13	-0.056	4.0761	0.09904	0.0:0.5836:0.1958:0.2207	.	22	Q96LJ8	UBX10_HUMAN	D	22	.	ENSP00000364240:V22D	V	+	2	0	UBXN10	20389706	0.002000	0.14202	0.007000	0.13788	0.011000	0.07611	0.246000	0.18160	0.517000	0.28361	-0.337000	0.08149	GTT		0.512	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		9	116	0	0	0	1	0	9	116				
GART	2618	broad.mit.edu	37	21	34878390	34878390	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr21:34878390A>G	ENST00000381831.3	-	19	2737	c.2474T>C	c.(2473-2475)aTa>aCa	p.I825T	GART_ENST00000543717.1_Missense_Mutation_p.I377T|GART_ENST00000381839.3_Missense_Mutation_p.I825T|GART_ENST00000381815.4_Missense_Mutation_p.I825T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	825	GART.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AGTACTGTCTATAAGTGCTTG	0.428																																						ENST00000381831.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(2473-2475)aTa>aCa		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						103.0	95.0	98.0					21																	34878390		2203	4300	6503	SO:0001583	missense	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34878390A>G	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2474T>C	21.37:g.34878390A>G	ENSP00000371253:p.Ile825Thr					GART_ENST00000543717.1_Missense_Mutation_p.I377T|GART_ENST00000381839.3_Missense_Mutation_p.I825T|GART_ENST00000381815.4_Missense_Mutation_p.I825T	p.I825T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN			19	2737	-			825			GART.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	c.2474T>C	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.561339	0.65538	.	.	ENSG00000159131	ENST00000414353;ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	6.17	6.17	0.99709	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.92219	3.285	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.92882	0.6324	10	0.87932	D	0	-27.4985	16.8222	0.85835	1.0:0.0:0.0:0.0	.	825	P22102	PUR2_HUMAN	T	89;825;825;825;377	ENSP00000371236:I825T;ENSP00000371253:I825T;ENSP00000371261:I825T;ENSP00000443579:I377T	ENSP00000371236:I825T	I	-	2	0	GART	33800260	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	7.951000	0.87819	2.371000	0.80710	0.533000	0.62120	ATA		0.428	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		29	55	0	0	0	1	0	29	55				
PRPF4B	8899	broad.mit.edu	37	6	4021681	4021681	+	Missense_Mutation	SNP	T	T	G			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:4021681T>G	ENST00000337659.6	+	1	122	c.22T>G	c.(22-24)Tcg>Gcg	p.S8A	PRPF4B_ENST00000538861.1_5'Flank|RP3-406P24.4_ENST00000606564.1_lincRNA|RP3-406P24.3_ENST00000415144.1_RNA	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	8					mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GGAGACCCAGTCGCTACGGGA	0.662																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(22-24)Tcg>Gcg		pre-mRNA processing factor 4B							16.0	16.0	16.0					6																	4021681		2183	4276	6459	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4021681T>G	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.22T>G	6.37:g.4021681T>G	ENSP00000337194:p.Ser8Ala						p.S8A	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN			1	122	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	8					A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.22T>G	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	T	7.088	0.571609	0.13623	.	.	ENSG00000112739	ENST00000337659	T	0.64991	-0.13	5.06	-0.463	0.12164	.	0.722331	0.12367	N	0.475173	T	0.16300	0.0392	N	0.14661	0.345	0.23150	N	0.998216	B	0.02656	0.0	B	0.01281	0.0	T	0.26121	-1.0112	10	0.20519	T	0.43	.	5.4308	0.16452	0.0:0.23:0.5077:0.2622	.	8	Q13523	PRP4B_HUMAN	A	8	ENSP00000337194:S8A	ENSP00000337194:S8A	S	+	1	0	PRPF4B	3966680	0.441000	0.25626	0.100000	0.21137	0.289000	0.27227	-0.183000	0.09712	-0.046000	0.13446	0.533000	0.62120	TCG		0.662	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			11	10	0	0	0	1	0	11	10				
ITGA5	3678	broad.mit.edu	37	12	54799462	54799462	+	Silent	SNP	G	G	A	rs553785363		TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr12:54799462G>A	ENST00000293379.4	-	11	1263	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	334					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCCCATTGACGTCTGTGGCGG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		17906	0.0		0.0	False		,,,				2504	0.001					ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(1000-1002)gaC>gaT		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							85.0	73.0	77.0					12																	54799462		2203	4300	6503	SO:0001819	synonymous_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54799462G>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1002C>T	12.37:g.54799462G>A						RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.D334D	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			11	1263	-			334					Q96HA5	Silent	SNP	ENST00000293379.4	37	c.1002C>T	CCDS8880.1																																																																																				0.547	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			43	35	0	0	0	1	0	43	35				
LILRA4	23547	broad.mit.edu	37	19	54848852	54848852	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr19:54848852C>A	ENST00000291759.4	-	5	827	c.771G>T	c.(769-771)aaG>aaT	p.K257N	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	257	Ig-like C2-type 3.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CGGCCCCCTCCTTGTACAGAG	0.672																																						ENST00000291759.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(769-771)aaG>aaT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							23.0	27.0	26.0					19																	54848852		2203	4298	6501	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54848852C>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.771G>T	19.37:g.54848852C>A	ENSP00000291759:p.Lys257Asn						p.K257N	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	5	827	-	Ovarian(34;0.19)		257			Ig-like C2-type 3.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.771G>T	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	13.23	2.174579	0.38413	.	.	ENSG00000239961	ENST00000291759	T	0.18960	2.18	2.51	1.46	0.22682	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.844176	0.10040	N	0.723631	T	0.58652	0.2137	H	0.98542	4.26	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.41910	-0.9482	10	0.87932	D	0	.	5.2527	0.15531	0.0:0.831:0.0:0.169	.	257	P59901	LIRA4_HUMAN	N	257	ENSP00000291759:K257N	ENSP00000291759:K257N	K	-	3	2	LILRA4	59540664	0.000000	0.05858	0.062000	0.19696	0.031000	0.12232	-0.412000	0.07132	0.619000	0.30197	0.455000	0.32223	AAG		0.672	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		10	68	1	0	7.48243e-07	1	7.77021e-07	10	68				
LCP1	3936	broad.mit.edu	37	13	46733004	46733004	+	Missense_Mutation	SNP	T	T	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr13:46733004T>A	ENST00000398576.2	-	6	573	c.185A>T	c.(184-186)gAt>gTt	p.D62V	LCP1_ENST00000323076.2_Missense_Mutation_p.D62V|LCP1_ENST00000460190.1_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	62	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TTGGTCCAGATCACCTGTAGC	0.418			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(184-186)gAt>gTt		lymphocyte cytosolic protein 1 (L-plastin)							210.0	195.0	200.0					13																	46733004		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46733004T>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.185A>T	13.37:g.46733004T>A	ENSP00000381581:p.Asp62Val					LCP1_ENST00000323076.2_Missense_Mutation_p.D62V	p.D62V			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	6	573	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	62			EF-hand 2.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.185A>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601763	0.87055	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500;ENST00000442275	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	5.76	5.76	0.90799	EF-hand-like domain (1);	0.187398	0.53938	D	0.000042	D	0.94476	0.8222	M	0.83483	2.645	0.80722	D	1	P	0.39094	0.659	P	0.53689	0.732	D	0.94301	0.7537	10	0.51188	T	0.08	-29.5131	14.3097	0.66407	0.0:0.0:0.0:1.0	.	62	P13796	PLSL_HUMAN	V	62	ENSP00000315757:D62V;ENSP00000381581:D62V;ENSP00000408052:D62V;ENSP00000402157:D62V	ENSP00000315757:D62V	D	-	2	0	LCP1	45631005	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.725000	0.61979	2.324000	0.78689	0.533000	0.62120	GAT		0.418	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		70	57	0	0	0	1	0	70	57				
TRPM4	54795	broad.mit.edu	37	19	49713575	49713575	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr19:49713575G>A	ENST00000252826.5	+	21	3367	c.3241G>A	c.(3241-3243)Gtc>Atc	p.V1081I	TRPM4_ENST00000355712.5_Missense_Mutation_p.V727I|TRPM4_ENST00000427978.2_Missense_Mutation_p.V936I	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1081	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCCCTTTATCGTCATCTCCCA	0.642																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(3241-3243)Gtc>Atc		transient receptor potential cation channel, subfamily M, member 4							58.0	57.0	57.0					19																	49713575		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49713575G>A	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3241G>A	19.37:g.49713575G>A	ENSP00000252826:p.Val1081Ile					TRPM4_ENST00000427978.2_Missense_Mutation_p.V936I|TRPM4_ENST00000355712.5_Missense_Mutation_p.V727I	p.V1081I	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	21	3367	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1081			Calmodulin-binding.		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.3241G>A	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	4.459	0.085097	0.08583	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.53640	0.61;0.61;0.61	5.34	-4.92	0.03075	.	0.233189	0.42420	N	0.000704	T	0.07548	0.0190	N	0.00191	-1.88	0.27152	N	0.961383	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.001;0.002;0.001;0.0	T	0.32052	-0.9921	10	0.02654	T	1	-12.3764	5.0618	0.14560	0.3198:0.1105:0.4618:0.1079	.	727;907;936;1081	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	I	1081;936;727	ENSP00000252826:V1081I;ENSP00000407492:V936I;ENSP00000347944:V727I	ENSP00000252826:V1081I	V	+	1	0	TRPM4	54405387	0.023000	0.18921	0.411000	0.26484	0.670000	0.39368	-0.390000	0.07332	-1.294000	0.02360	-0.658000	0.03865	GTC		0.642	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		13	130	0	0	0	1	0	13	130				
FMN2	56776	broad.mit.edu	37	1	240371964	240371964	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:240371964G>C	ENST00000319653.9	+	5	4082	c.3852G>C	c.(3850-3852)aaG>aaC	p.K1284N		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1284	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGAGTAGGAAGCAGCCCATAG	0.468																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3850-3852)aaG>aaC		formin 2							66.0	68.0	67.0					1																	240371964		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371964G>C	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3852G>C	1.37:g.240371964G>C	ENSP00000318884:p.Lys1284Asn						p.K1284N	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	4082	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1284			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3852G>C	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	g	12.72	2.022830	0.35701	.	.	ENSG00000155816	ENST00000319653	T	0.20738	2.05	4.6	2.31	0.28768	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.56097	U	0.000028	T	0.44891	0.1315	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.39143	-0.9628	9	.	.	.	.	5.9793	0.19399	0.4432:0.0:0.5568:0.0	.	1284	Q9NZ56	FMN2_HUMAN	N	1284	ENSP00000318884:K1284N	.	K	+	3	2	FMN2	238438587	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.070000	0.30653	0.928000	0.37168	0.472000	0.43445	AAG		0.468	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		9	60	0	0	0	1	0	9	60				
OR10A7	121364	broad.mit.edu	37	12	55615303	55615303	+	Silent	SNP	C	C	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr12:55615303C>T	ENST00000326258.1	+	1	495	c.495C>T	c.(493-495)gcC>gcT	p.A165A		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GGATGATGGCCCTTCCTTTCT	0.473																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(493-495)gcC>gcT		olfactory receptor, family 10, subfamily A, member 7							183.0	156.0	165.0					12																	55615303		2203	4300	6503	SO:0001819	synonymous_variant	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615303C>T	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.495C>T	12.37:g.55615303C>T							p.A165A	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	495	+			165					Q6IFD5|Q96R19	Silent	SNP	ENST00000326258.1	37	c.495C>T	CCDS31815.1																																																																																				0.473	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			9	44	0	0	0	1	0	9	44				
BCLAF1	9774	broad.mit.edu	37	6	136597335	136597335	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:136597335G>C	ENST00000531224.1	-	5	1580	c.1328C>G	c.(1327-1329)tCa>tGa	p.S443*	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.S443*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.S441*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.S441*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.S441*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	443					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GCCTTTCAGTGAAACTTTGGA	0.398																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1327-1329)tCa>tGa		BCL2-associated transcription factor 1							161.0	162.0	161.0					6																	136597335		2203	4300	6503	SO:0001587	stop_gained	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597335G>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1328C>G	6.37:g.136597335G>C	ENSP00000435210:p.Ser443*					BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.S441*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.S441*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.S441*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.S443*|BCLAF1_ENST00000530767.1_Intron	p.S443*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1580	-	Colorectal(23;0.24)		443					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	c.1328C>G	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	37	6.340519	0.97489	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.21	5.21	0.72293	.	0.132448	0.34986	N	0.003525	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-4.198	12.5417	0.56174	0.0763:0.0:0.9237:0.0	.	.	.	.	X	443;441;443;441;441;443	.	ENSP00000229446:S441X	S	-	2	0	BCLAF1	136639028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.715000	0.61909	2.611000	0.88343	0.644000	0.83932	TCA		0.398	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		32	135	0	0	0	1	0	32	135				
CASZ1	54897	broad.mit.edu	37	1	10713827	10713827	+	Missense_Mutation	SNP	T	T	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:10713827T>A	ENST00000377022.3	-	11	2604	c.2287A>T	c.(2287-2289)Agt>Tgt	p.S763C	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.S763C	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	763					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTGGTGGCACTGGGCCCAGCC	0.701																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(2287-2289)Agt>Tgt		castor zinc finger 1							35.0	45.0	41.0					1																	10713827		2203	4298	6501	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10713827T>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2287A>T	1.37:g.10713827T>A	ENSP00000366221:p.Ser763Cys					CASZ1_ENST00000344008.5_Missense_Mutation_p.S763C|RP4-734G22.3_ENST00000606802.1_RNA	p.S763C	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	11	2604	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	763					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.2287A>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	T	4.996	0.184976	0.09495	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.7	-4.64	0.03349	.	0.967547	0.08639	N	0.915850	T	0.26702	0.0653	N	0.08118	0	0.09310	N	0.999997	B;B;P	0.41569	0.003;0.001;0.755	B;B;P	0.47162	0.004;0.001;0.54	T	0.40001	-0.9586	9	0.51188	T	0.08	-0.0636	15.6278	0.76874	0.0:0.6902:0.0:0.3098	.	787;763;763	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	C	763	.	ENSP00000339445:S763C	S	-	1	0	CASZ1	10636414	0.075000	0.21258	0.108000	0.21378	0.070000	0.16714	-0.034000	0.12225	-0.814000	0.04352	-1.322000	0.01289	AGT		0.701	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		8	47	0	0	0	1	0	8	47				
RP11-423O2.5	0	broad.mit.edu	37	1	142803493	142803493	+	lincRNA	SNP	T	T	C	rs80149641		TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:142803493T>C	ENST00000423385.1	-	0	1472																											TGTACATTTATTATTGATTTA	0.323																																						ENST00000423385.1																			0																																																			0							g.chr1:142803493T>C																													1.37:g.142803493T>C														0	1472	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.323	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			9	83	0	0	0	1	0	9	83				
NCOR2	9612	broad.mit.edu	37	12	124911256	124911256	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr12:124911256C>T	ENST00000405201.1	-	11	1240	c.1240G>A	c.(1240-1242)Ggg>Agg	p.G414R	NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Missense_Mutation_p.G414R|NCOR2_ENST00000356219.3_Missense_Mutation_p.G414R|NCOR2_ENST00000429285.2_Missense_Mutation_p.G413R|NCOR2_ENST00000404621.1_Missense_Mutation_p.G413R			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	414					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCCATAAGCCCGTTCATGTTG	0.572																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1240-1242)Ggg>Agg		nuclear receptor corepressor 2							93.0	99.0	97.0					12																	124911256		2108	4216	6324	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124911256C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1240G>A	12.37:g.124911256C>T	ENSP00000384018:p.Gly414Arg					NCOR2_ENST00000405201.1_Missense_Mutation_p.G414R|NCOR2_ENST00000429285.2_Missense_Mutation_p.G413R|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000404621.1_Missense_Mutation_p.G413R|NCOR2_ENST00000397355.1_Missense_Mutation_p.G414R	p.G414R	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	12	1395	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		414					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.1240G>A	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	c	16.93	3.259334	0.59321	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	4.95	4.95	0.65309	.	0.183903	0.47093	D	0.000252	T	0.61999	0.2392	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.65232	-0.6218	10	0.87932	D	0	-46.4991	18.5814	0.91172	0.0:1.0:0.0:0.0	.	413;414;414	C9J0Q5;C9J239;C9JFD3	.;.;.	R	414;413;414;414;414;413;414;414	ENSP00000384018:G414R;ENSP00000384202:G413R;ENSP00000348551:G414R;ENSP00000380513:G414R;ENSP00000400281:G413R;ENSP00000402808:G414R;ENSP00000405367:G414R	ENSP00000348551:G414R	G	-	1	0	NCOR2	123477209	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.792000	0.85828	2.462000	0.83206	0.556000	0.70494	GGG		0.572	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		24	42	0	0	0	1	0	24	42				
EIF3I	8668	broad.mit.edu	37	1	32694780	32694780	+	Silent	SNP	C	C	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:32694780C>A	ENST00000373586.1	+	9	846	c.774C>A	c.(772-774)acC>acA	p.T258T	MTMR9LP_ENST00000441044.1_RNA	NM_003757.2	NP_003748.1			eukaryotic translation initiation factor 3, subunit I											breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				TAACCACAACCTCCACCAGGA	0.443																																					Colon(102;1138 2140 2180 17876)	ENST00000373586.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(772-774)acC>acA		eukaryotic translation initiation factor 3, subunit I							94.0	98.0	97.0					1																	32694780		2203	4300	6503	SO:0001819	synonymous_variant	8668					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr1:32694780C>A	U39067	CCDS357.1	1p34.1	2013-01-10	2007-07-27	2007-07-27	ENSG00000084623	ENSG00000084623		"""WD repeat domain containing"""	3272	protein-coding gene	gene with protein product		603911	"""eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa"""	EIF3S2		7566156, 8995409	Standard	NM_003757		Approved	TRIP-1, eIF3-beta, eIF3-p36, eIF3i	uc009vuc.3	Q13347	OTTHUMG00000007364	ENST00000373586.1:c.774C>A	1.37:g.32694780C>A							p.T258T	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN			9	846	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	258						Silent	SNP	ENST00000373586.1	37	c.774C>A	CCDS357.1																																																																																				0.443	EIF3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019282.2	NM_003757		27	45	1	0	2.41591e-17	1	2.66139e-17	27	45				
BRWD1	54014	broad.mit.edu	37	21	40571181	40571181	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr21:40571181C>T	ENST00000333229.2	-	40	5488	c.5161G>A	c.(5161-5163)Gag>Aag	p.E1721K	BRWD1_ENST00000342449.3_Missense_Mutation_p.E1721K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E1721K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1721					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTTTCTGACTCTGAGTCTCTG	0.398																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(5161-5163)Gag>Aag		bromodomain and WD repeat domain containing 1							98.0	92.0	94.0					21																	40571181		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40571181C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5161G>A	21.37:g.40571181C>T	ENSP00000330753:p.Glu1721Lys					BRWD1_ENST00000380800.3_Missense_Mutation_p.E1721K|BRWD1_ENST00000333229.2_Missense_Mutation_p.E1721K	p.E1721K	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			40	5239	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1721					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.5161G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013026	0.75161	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.58358	0.34;0.39;0.46	5.51	5.51	0.81932	.	0.092230	0.47093	D	0.000251	T	0.56366	0.1980	M	0.70275	2.135	0.80722	D	1	P;P	0.45902	0.868;0.682	B;B	0.41510	0.359;0.197	T	0.61907	-0.6966	10	0.49607	T	0.09	-6.8515	17.6316	0.88109	0.0:1.0:0.0:0.0	.	1721;1721	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	K	1721	ENSP00000330753:E1721K;ENSP00000344333:E1721K;ENSP00000370178:E1721K	ENSP00000330753:E1721K	E	-	1	0	BRWD1	39493051	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.312000	0.51927	2.593000	0.87608	0.655000	0.94253	GAG		0.398	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		35	48	0	0	0	1	0	35	48				
SLC4A7	9497	broad.mit.edu	37	3	27475588	27475588	+	Silent	SNP	T	T	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr3:27475588T>A	ENST00000295736.5	-	6	640	c.570A>T	c.(568-570)gtA>gtT	p.V190V	SLC4A7_ENST00000425128.2_Silent_p.V195V|SLC4A7_ENST00000437179.1_Silent_p.V195V|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000454389.1_Silent_p.V199V|SLC4A7_ENST00000445684.1_Silent_p.V199V|SLC4A7_ENST00000435667.2_Silent_p.V199V|SLC4A7_ENST00000440156.1_Silent_p.V199V|SLC4A7_ENST00000455077.1_Silent_p.V195V|SLC4A7_ENST00000446700.1_Silent_p.V195V|SLC4A7_ENST00000428386.1_Silent_p.V190V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	190					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TGTTGTCTAATACCATATCTA	0.323																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(568-570)gtA>gtT		solute carrier family 4, sodium bicarbonate cotransporter, member 7							102.0	103.0	103.0					3																	27475588		2203	4300	6503	SO:0001819	synonymous_variant	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27475588T>A	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.570A>T	3.37:g.27475588T>A						SLC4A7_ENST00000440156.1_Silent_p.V199V|SLC4A7_ENST00000455077.1_Silent_p.V195V|SLC4A7_ENST00000435667.2_Silent_p.V199V|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000428386.1_Silent_p.V190V|SLC4A7_ENST00000437179.1_Silent_p.V195V|SLC4A7_ENST00000445684.1_Silent_p.V199V|SLC4A7_ENST00000446700.1_Silent_p.V195V|SLC4A7_ENST00000454389.1_Silent_p.V199V|SLC4A7_ENST00000425128.2_Silent_p.V195V	p.V190V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			6	640	-			190					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	ENST00000295736.5	37	c.570A>T	CCDS33721.1																																																																																				0.323	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		4	29	0	0	0	1	0	4	29				
TP53	7157	broad.mit.edu	37	17	7573982	7573982	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr17:7573982C>A	ENST00000269305.4	-	10	1234	c.1045G>T	c.(1045-1047)Gaa>Taa	p.E349*	TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E349*|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR	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	349	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		E -> D (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.E349*(11)|p.0?(8)|p.L348_E349>F*(2)|p.E349fs*21(2)|p.?(1)|p.I332fs*5(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)	TCCTTGAGTTCCAAGGCCTCA	0.597		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)	ENST00000269305.4		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"""		25	Substitution - Nonsense(11)|Whole gene deletion(8)|Deletion - Frameshift(3)|Complex - compound substitution(2)|Unknown(1)	p.E349*(11)|p.0?(8)|p.L348_E349>F*(2)|p.E349fs*21(2)|p.?(1)|p.I332fs*5(1)	lung(6)|bone(4)|central_nervous_system(3)|large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|skin(2)|stomach(1)|urinary_tract(1)|ovary(1)|breast(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.(1045-1047)Gaa>Taa	Other conserved DNA damage response genes	tumor protein p53							62.0	48.0	52.0					17																	7573982		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7573982C>A	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.1045G>T	17.37:g.7573982C>A	ENSP00000269305:p.Glu349*	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_Nonsense_Mutation_p.E349*|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron	p.E349*	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1234	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	349		E -> D (in a sporadic cancer; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1045G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	38	7.072789	0.98044	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-35.1174	13.3529	0.60611	0.159:0.841:0.0:0.0	.	.	.	.	X	349;349;338	.	ENSP00000269305:E349X	E	-	1	0	TP53	7514707	1.000000	0.71417	0.837000	0.33122	0.960000	0.62799	4.805000	0.62561	1.268000	0.44264	0.561000	0.74099	GAA		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	4	1	0	4.43304e-23	1	4.98716e-23	28	4				
HTR1E	3354	broad.mit.edu	37	6	87725129	87725129	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:87725129G>T	ENST00000305344.5	+	2	780	c.77G>T	c.(76-78)tGc>tTc	p.C26F		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	26					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	ATGCTCATTTGCATGACTCTG	0.498																																						ENST00000305344.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(76-78)tGc>tTc		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						157.0	126.0	136.0					6																	87725129		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725129G>T		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.77G>T	6.37:g.87725129G>T	ENSP00000307766:p.Cys26Phe					HTR1E_ENST00000369584.1_Missense_Mutation_p.C26F	p.C26F	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	780	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	26					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.77G>T	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308334	0.23821	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.33438	1.41;1.41	4.4	3.53	0.40419	.	0.521467	0.16463	U	0.213336	T	0.06280	0.0162	N	0.08118	0	0.19945	N	0.999943	B	0.14012	0.009	B	0.10450	0.005	T	0.34453	-0.9828	10	0.28530	T	0.3	.	13.2069	0.59803	0.0:0.7884:0.2116:0.0	.	26	P28566	5HT1E_HUMAN	F	26	ENSP00000307766:C26F;ENSP00000358597:C26F	ENSP00000307766:C26F	C	+	2	0	HTR1E	87781848	0.990000	0.36364	0.972000	0.41901	0.821000	0.46438	2.894000	0.48640	0.971000	0.38288	0.508000	0.49915	TGC		0.498	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		49	41	1	0	2.43139e-17	1	2.66139e-17	49	41				
KIAA1429	25962	broad.mit.edu	37	8	95518910	95518910	+	Silent	SNP	A	A	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr8:95518910A>T	ENST00000297591.5	-	16	3990	c.3915T>A	c.(3913-3915)ggT>ggA	p.G1305G	KIAA1429_ENST00000437199.1_Silent_p.G1305G	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1305					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CAGAAATAGAACCTTCAGAAG	0.393																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3913-3915)ggT>ggA		KIAA1429							74.0	79.0	78.0					8																	95518910		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95518910A>T	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3915T>A	8.37:g.95518910A>T						KIAA1429_ENST00000437199.1_Silent_p.G1305G	p.G1305G	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		16	3990	-	Breast(36;3.29e-05)		1305					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.3915T>A	CCDS34923.1																																																																																				0.393	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		19	132	0	0	0	1	0	19	132				
HHIP	64399	broad.mit.edu	37	4	145580927	145580927	+	Silent	SNP	T	T	C			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr4:145580927T>C	ENST00000296575.3	+	4	1423	c.768T>C	c.(766-768)ccT>ccC	p.P256P	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Silent_p.P256P|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	256					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TACTTACCCCTGAAGGAGAAA	0.428																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(766-768)ccT>ccC		hedgehog interacting protein							90.0	100.0	97.0					4																	145580927		2203	4300	6503	SO:0001819	synonymous_variant	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145580927T>C	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.768T>C	4.37:g.145580927T>C						HHIP_ENST00000434550.2_Silent_p.P256P|HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA	p.P256P	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	4	1423	+	all_hematologic(180;0.151)		256					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Silent	SNP	ENST00000296575.3	37	c.768T>C	CCDS3762.1																																																																																				0.428	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			58	72	0	0	0	1	0	58	72				
PPP1R3A	5506	broad.mit.edu	37	7	113518497	113518497	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr7:113518497G>A	ENST00000284601.3	-	4	2718	c.2650C>T	c.(2650-2652)Cag>Tag	p.Q884*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	884					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTTGAACCTGCCTAAGATCT	0.368																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2650-2652)Cag>Tag		protein phosphatase 1, regulatory subunit 3A							90.0	87.0	88.0					7																	113518497		2203	4299	6502	SO:0001587	stop_gained	5506				glycogen metabolic process	integral to membrane		g.chr7:113518497G>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2650C>T	7.37:g.113518497G>A	ENSP00000284601:p.Gln884*						p.Q884*	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	2718	-			884					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	37	c.2650C>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569453	0.45798	.	.	ENSG00000154415	ENST00000284601	.	.	.	5.81	2.79	0.32731	.	0.461129	0.19977	N	0.101852	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	0.1833	4.5173	0.11940	0.0662:0.2615:0.3373:0.3349	.	.	.	.	X	884	.	ENSP00000284601:Q884X	Q	-	1	0	PPP1R3A	113305733	0.052000	0.20516	0.001000	0.08648	0.003000	0.03518	0.741000	0.26202	0.707000	0.31934	-0.188000	0.12872	CAG		0.368	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		9	48	0	0	0	1	0	9	48				
BCL2L11	10018	broad.mit.edu	37	2	111921771	111921772	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr2:111921771_111921772insA	ENST00000393256.3	+	4	833_834	c.560_561insA	c.(559-564)ttacgtfs	p.R188fs	BCL2L11_ENST00000308659.8_Frame_Shift_Ins_p.R128fs	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	188					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TTACGACTGTTACGTTACATTG	0.436																																						ENST00000393256.3																			0				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						c.(559-561)tcgfs		BCL2-like 11 (apoptosis facilitator)																																				SO:0001589	frameshift_variant	10018				activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding	g.chr2:111921771_111921772insA	AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.561dupA	2.37:g.111921772_111921772dupA	ENSP00000376943:p.Arg188fs					BCL2L11_ENST00000308659.8_Frame_Shift_Ins_p.S127fs	p.S187fs	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN			4	833_834	+			187					A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Frame_Shift_Ins	INS	ENST00000393256.3	37	c.560_561insA	CCDS2089.1																																																																																				0.436	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254022.3			37	75						37	75	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32521843	32521844	+	RNA	DEL	CT	CT	-	rs67101368		TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:32521843_32521844delCT	ENST00000411500.1	-	0	740					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AGAAGGCTACCTCCTGTAAGAA	0.356																																						ENST00000411500.1																			0																																																			0							g.chr6:32521843_32521844delCT	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521843_32521844delCT								NR_001298.1						0	740	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.356	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		4	3						4	3	---	---	---	---
RRM1	6240	broad.mit.edu	37	11	4123271	4123272	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr11:4123271_4123272delAG	ENST00000300738.5	+	2	272_273	c.68_69delAG	c.(67-69)cagfs	p.Q23fs	RRM1_ENST00000423050.2_5'UTR	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	23	ATP-cone. {ECO:0000255|PROSITE- ProRule:PRU00492}.				cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TCTCGAATCCAGAAGCTTTGTT	0.327																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.(67-69)cfs		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)																																			SO:0001589	frameshift_variant	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4123271_4123272delAG	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.68_69delAG	11.37:g.4123271_4123272delAG	ENSP00000300738:p.Gln23fs					RRM1_ENST00000423050.2_5'UTR	p.Q23fs	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	2	272_273	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	23			ATP-cone.		Q9UNN2	Frame_Shift_Del	DEL	ENST00000300738.5	37	c.68_69delAG	CCDS7750.1																																																																																				0.327	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		19	32						19	32	---	---	---	---
RPH3A	22895	broad.mit.edu	37	12	113285511	113285515	+	Frame_Shift_Del	DEL	GGCTG	GGCTG	-			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr12:113285511_113285515delGGCTG	ENST00000389385.4	+	5	591_595	c.94_98delGGCTG	c.(94-99)ggctggfs	p.GW32fs	RPH3A_ENST00000420983.2_Frame_Shift_Del_p.GW32fs|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000543106.2_Frame_Shift_Del_p.GW32fs|RPH3A_ENST00000551052.1_Frame_Shift_Del_p.GW28fs|RPH3A_ENST00000415485.3_Frame_Shift_Del_p.GW32fs|RPH3A_ENST00000548866.1_Intron	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	32					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCTCCAGGCAGGCTGGTCCGTCCAC	0.537																																						ENST00000389385.4																			0				breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(94-99)gfs		rabphilin 3A homolog (mouse)																																				SO:0001589	frameshift_variant	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113285511_113285515delGGCTG	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.94_98delGGCTG	12.37:g.113285511_113285515delGGCTG	ENSP00000374036:p.Gly32fs					RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000415485.3_Frame_Shift_Del_p.GW32fs|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000551052.1_Frame_Shift_Del_p.GW28fs|RPH3A_ENST00000420983.2_Frame_Shift_Del_p.GW32fs|RPH3A_ENST00000543106.2_Frame_Shift_Del_p.GW32fs	p.GW32fs	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	5	591_595	+			32					B7Z3C3|Q96AE0	Frame_Shift_Del	DEL	ENST00000389385.4	37	c.94_98delGGCTG	CCDS44979.1																																																																																				0.537	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		25	33						25	33	---	---	---	---
CAPN15	6650	broad.mit.edu	37	16	601377	601377	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr16:601377delC	ENST00000219611.2	+	8	2505	c.2142delC	c.(2140-2142)cgcfs	p.R714fs	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	714	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TGGGCCTGCGCCCCCGGCATG	0.682																																						ENST00000219611.2																			0											c.(2140-2142)cgfs		calpain 15							51.0	61.0	58.0					16																	601377		2200	4297	6497	SO:0001589	frameshift_variant	6650							g.chr16:601377delC	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2142delC	16.37:g.601377delC	ENSP00000219611:p.Arg714fs					LA16c-366D1.3_ENST00000565879.1_RNA	p.R714fs	NM_005632.2	NP_005623.1					8	2505	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Frame_Shift_Del	DEL	ENST00000219611.2	37	c.2142delC	CCDS10410.1																																																																																				0.682	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		55	62						55	62	---	---	---	---
