#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MT-CO1	4512	broad.mit.edu	37	M	6227	6227	+	Silent	SNP	T	T	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chrM:6227T>C	ENST00000361624.2	+	1	324	c.324T>C	c.(322-324)tcT>tcC	p.S108S	MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TC_ENST00000387405.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	108					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|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 IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TTACCTCCCTCTCTCCTACTC	0.542																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(322-324)tcT>tcC		mitochondrially encoded cytochrome c oxidase I																																				SO:0001819	synonymous_variant	4512							g.chrM:6227T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.324T>C	M.37:g.6227T>C							p.108_108insS							1	324	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.324T>C																																																																																					0.542	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		11	5	0	0	0	0.435327	0	11	5				
PCNXL2	80003	broad.mit.edu	37	1	233344354	233344354	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:233344354C>T	ENST00000258229.9	-	13	3007	c.2773G>A	c.(2773-2775)Gcc>Acc	p.A925T	PCNXL2_ENST00000430153.1_Missense_Mutation_p.A224T|PCNXL2_ENST00000488780.2_Missense_Mutation_p.A58T	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	925						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTGGCTTTGGCCCCTGTATCA	0.423																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2773-2775)Gcc>Acc		pecanex-like 2 (Drosophila)							113.0	109.0	110.0					1																	233344354		1906	4125	6031	SO:0001583	missense	80003					integral to membrane		g.chr1:233344354C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2773G>A	1.37:g.233344354C>T	ENSP00000258229:p.Ala925Thr					PCNXL2_ENST00000430153.1_Missense_Mutation_p.A224T|PCNXL2_ENST00000488780.2_Missense_Mutation_p.A58T	p.A925T	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			13	3007	-		all_cancers(173;0.0347)|Prostate(94;0.137)	925					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.2773G>A	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678749	0.88542	.	.	ENSG00000135749	ENST00000258229;ENST00000488780;ENST00000518351;ENST00000430153	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.8	4.84	0.62591	.	.	.	.	.	T	0.58235	0.2108	L	0.58101	1.795	0.33421	D	0.579887	P;P	0.45531	0.86;0.594	P;B	0.44561	0.453;0.164	T	0.69499	-0.5129	9	0.42905	T	0.14	.	14.1667	0.65480	0.2205:0.7795:0.0:0.0	.	224;925	A6NKB5-2;A6NKB5	.;PCX2_HUMAN	T	925;58;94;224	ENSP00000258229:A925T;ENSP00000430820:A58T;ENSP00000429231:A94T;ENSP00000394703:A224T	ENSP00000258229:A925T	A	-	1	0	PCNXL2	231410977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.815000	0.48018	2.735000	0.93741	0.655000	0.94253	GCC		0.423	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		14	91	0	0	0	0.435327	0	14	91				
SHROOM1	134549	broad.mit.edu	37	5	132158586	132158586	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:132158586T>C	ENST00000378679.3	-	10	3265	c.2461A>G	c.(2461-2463)Agg>Ggg	p.R821G	SHROOM1_ENST00000378676.1_Missense_Mutation_p.R752G|SHROOM1_ENST00000319854.3_Missense_Mutation_p.R816G|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	821	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGTCGTCCCTGATGGCGTCC	0.672																																						ENST00000378679.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(2461-2463)Agg>Ggg		shroom family member 1							57.0	52.0	54.0					5																	132158586		2201	4298	6499	SO:0001583	missense	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132158586T>C	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.2461A>G	5.37:g.132158586T>C	ENSP00000367950:p.Arg821Gly					SHROOM1_ENST00000378676.1_Missense_Mutation_p.R752G|SHROOM1_ENST00000319854.3_Missense_Mutation_p.R816G	p.R821G	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	3265	-			821			ASD2.		B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	c.2461A>G	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	T	5.882	0.346808	0.11126	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.34275	1.37;1.37;1.37	4.95	-0.851	0.10716	Apx/shroom, ASD2 (2);	0.943940	0.09063	N	0.854001	T	0.30008	0.0751	M	0.71581	2.175	0.09310	N	1	B;B	0.15141	0.004;0.012	B;B	0.14578	0.004;0.011	T	0.34378	-0.9831	10	0.23302	T	0.38	-1.2638	1.8573	0.03181	0.1523:0.0978:0.2921:0.4578	.	816;821	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	G	821;816;752	ENSP00000367950:R821G;ENSP00000324245:R816G;ENSP00000367947:R752G	ENSP00000324245:R816G	R	-	1	2	SHROOM1	132186485	0.003000	0.15002	0.021000	0.16686	0.363000	0.29612	0.221000	0.17680	0.066000	0.16515	-0.313000	0.08912	AGG		0.672	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		3	48	0	0	0	0.115264	0	3	48				
NLRP14	338323	broad.mit.edu	37	11	7064302	7064302	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:7064302G>A	ENST00000299481.4	+	4	1391	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	349	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TAAGAGGTGGGCCATGAAAGT	0.428																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1045-1047)Gcc>Acc		NLR family, pyrin domain containing 14							100.0	104.0	102.0					11																	7064302		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064302G>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1045G>A	11.37:g.7064302G>A	ENSP00000299481:p.Ala349Thr						p.A349T	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1391	+			349			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1045G>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601915	0.46423	.	.	ENSG00000158077	ENST00000299481	T	0.79033	-1.23	4.5	2.56	0.30785	NACHT nucleoside triphosphatase (1);	0.427086	0.20093	N	0.099389	T	0.75759	0.3893	M	0.75264	2.295	0.09310	N	1	D	0.54047	0.964	P	0.45310	0.476	T	0.67007	-0.5779	10	0.48119	T	0.1	.	7.0214	0.24916	0.0937:0.0:0.7339:0.1724	.	349	Q86W24	NAL14_HUMAN	T	349	ENSP00000299481:A349T	ENSP00000299481:A349T	A	+	1	0	NLRP14	7020878	0.998000	0.40836	0.003000	0.11579	0.495000	0.33615	5.043000	0.64208	0.610000	0.30035	0.650000	0.86243	GCC		0.428	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		26	202	0	0	0	0.681144	0	26	202				
ZNF582	147948	broad.mit.edu	37	19	56895640	56895640	+	Silent	SNP	G	G	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr19:56895640G>C	ENST00000301310.4	-	5	1304	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	ZNF582_ENST00000586929.1_Silent_p.L382L	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GATGTTGCTTGAGTTGTGAGC	0.433																																					Ovarian(183;1887 2032 4349 30507 51343)	ENST00000301310.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1144-1146)ctC>ctG		zinc finger protein 582							98.0	96.0	96.0					19																	56895640		2203	4300	6503	SO:0001819	synonymous_variant	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56895640G>C	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.1146C>G	19.37:g.56895640G>C						ZNF582_ENST00000586929.1_Silent_p.L382L	p.L382L	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	5	1304	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	382					B4DQZ9|B7Z9R3|Q6PJT6	Silent	SNP	ENST00000301310.4	37	c.1146C>G	CCDS33121.1																																																																																				0.433	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		4	150	0	0	0	0.150653	0	4	150				
NFIB	4781	broad.mit.edu	37	9	14307185	14307185	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr9:14307185C>A	ENST00000380959.3	-	2	838	c.365G>T	c.(364-366)cGa>cTa	p.R122L	NFIB_ENST00000397581.2_Missense_Mutation_p.R122L|NFIB_ENST00000397575.3_Missense_Mutation_p.R122L|NFIB_ENST00000380921.3_Missense_Mutation_p.R122L|NFIB_ENST00000380953.1_Missense_Mutation_p.R122L|NFIB_ENST00000380934.4_Missense_Mutation_p.R148L|NFIB_ENST00000397579.2_Missense_Mutation_p.R122L	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	122					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GTCTGCCTGTCGCAGGCAGTC	0.532			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(364-366)cGa>cTa		nuclear factor I/B							108.0	113.0	111.0					9																	14307185		2203	4300	6503	SO:0001583	missense	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307185C>A	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.365G>T	9.37:g.14307185C>A	ENSP00000370346:p.Arg122Leu					NFIB_ENST00000397575.3_Missense_Mutation_p.R122L|NFIB_ENST00000397579.2_Missense_Mutation_p.R122L|NFIB_ENST00000397581.2_Missense_Mutation_p.R122L|NFIB_ENST00000380953.1_Missense_Mutation_p.R122L|NFIB_ENST00000380921.3_Missense_Mutation_p.R122L|NFIB_ENST00000380934.4_Missense_Mutation_p.R148L	p.R122L	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	838	-			122					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	c.365G>T	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528443	0.85706	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000380921	T;T;T;T;T;T	0.60424	0.27;0.31;0.27;0.2;0.19;0.33	5.71	5.71	0.89125	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.79034	0.4378	M	0.80746	2.51	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.994	D;D;D	0.76575	0.982;0.988;0.982	T	0.80819	-0.1212	10	0.87932	D	0	-4.5654	19.8773	0.96884	0.0:1.0:0.0:0.0	.	122;122;122	Q5VW27;Q5VW29;O00712	.;.;NFIB_HUMAN	L	148;122;122;122;122;122;122	ENSP00000370321:R148L;ENSP00000370346:R122L;ENSP00000370340:R122L;ENSP00000380705:R122L;ENSP00000380711:R122L;ENSP00000380709:R122L	ENSP00000370308:R122L	R	-	2	0	NFIB	14297185	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.686000	0.91538	0.650000	0.86243	CGA		0.532	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		7	196	1	0	0.0381472	0.278610	0.0405314	7	196				
ZNF513	130557	broad.mit.edu	37	2	27600997	27600997	+	Silent	SNP	A	A	C	rs200250222		TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:27600997A>C	ENST00000323703.6	-	4	1239	c.1041T>G	c.(1039-1041)ggT>ggG	p.G347G	ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Silent_p.G285G	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	347					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCACTGGCACCCCCTCCAG	0.662																																						ENST00000323703.6																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17						c.(1039-1041)ggT>ggG		zinc finger protein 513							35.0	47.0	43.0					2																	27600997		2203	4300	6503	SO:0001819	synonymous_variant	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27600997A>C	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1041T>G	2.37:g.27600997A>C						ZNF513_ENST00000407879.1_Silent_p.G285G|ZNF513_ENST00000491924.1_Intron	p.G347G	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN			4	1239	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		347					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Silent	SNP	ENST00000323703.6	37	c.1041T>G	CCDS1751.1																																																																																				0.662	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		6	53	0	0	0	0.819951	0	6	53				
KLF4	9314	broad.mit.edu	37	9	110249405	110249405	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr9:110249405G>A	ENST00000374672.4	-	4	1641	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	424	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GTCCTTTTCCGGGGCCACGAT	0.587																																						ENST00000374672.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(1168-1170)Cgg>Tgg		Kruppel-like factor 4 (gut)							200.0	182.0	188.0					9																	110249405		2203	4300	6503	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110249405G>A	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1168C>T	9.37:g.110249405G>A	ENSP00000363804:p.Arg390Trp						p.R390W	NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN			4	1641	-			424			Pro-rich.		B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.1168C>T	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265729	0.80358	.	.	ENSG00000136826	ENST00000374672	T	0.07908	3.15	5.44	4.46	0.54185	.	0.221517	0.22687	N	0.056880	T	0.28200	0.0696	M	0.80616	2.505	0.51482	D	0.999925	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.992	T	0.00923	-1.1513	10	0.87932	D	0	.	10.7709	0.46321	0.0:0.0:0.5946:0.4054	.	424;390	O43474;O43474-1	KLF4_HUMAN;.	W	390	ENSP00000363804:R390W	ENSP00000363804:R390W	R	-	1	2	KLF4	109289226	0.998000	0.40836	1.000000	0.80357	0.916000	0.54674	2.082000	0.41605	2.547000	0.85894	0.561000	0.74099	CGG		0.587	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		88	161	0	0	0	0.870114	0	88	161				
GRM1	2911	broad.mit.edu	37	6	146720659	146720659	+	Silent	SNP	G	G	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr6:146720659G>C	ENST00000282753.1	+	7	2719	c.2484G>C	c.(2482-2484)ggG>ggC	p.G828G	GRM1_ENST00000507907.1_Silent_p.G828G|GRM1_ENST00000361719.2_Silent_p.G828G|GRM1_ENST00000492807.2_Silent_p.G828G|GRM1_ENST00000392299.2_Silent_p.G828G|GRM1_ENST00000355289.4_Silent_p.G828G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	828					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TGGCTCTGGGGTGCATGTTCA	0.488																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2482-2484)ggG>ggC		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						142.0	113.0	123.0					6																	146720659		2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720659G>C	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2484G>C	6.37:g.146720659G>C						GRM1_ENST00000492807.2_Silent_p.G828G|GRM1_ENST00000361719.2_Silent_p.G828G|GRM1_ENST00000282753.1_Silent_p.G828G|GRM1_ENST00000507907.1_Silent_p.G828G|GRM1_ENST00000355289.4_Silent_p.G828G	p.G828G			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2954	+		Ovarian(120;0.0387)	828					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.2484G>C	CCDS5209.1																																																																																				0.488	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		9	116	0	0	0	0.335167	0	9	116				
RAB11FIP4	84440	broad.mit.edu	37	17	29855551	29855551	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr17:29855551C>T	ENST00000325874.8	+	12	1713	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.A393V	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	495	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GAGCGGGAGGCGACGCAGGAG	0.612																																						ENST00000325874.8																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1483-1485)gCg>gTg		RAB11 family interacting protein 4 (class II)							87.0	78.0	81.0					17																	29855551		2203	4300	6503	SO:0001583	missense	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29855551C>T	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1484C>T	17.37:g.29855551C>T	ENSP00000312837:p.Ala495Val					RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.A393V	p.A495V	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN			12	1713	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	495			Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	c.1484C>T	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	C	8.934	0.964085	0.18583	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.45	4.46	0.54185	.	0.167314	0.53938	D	0.000056	T	0.62780	0.2456	M	0.70275	2.135	0.53005	D	0.999967	D;D	0.55605	0.967;0.972	P;B	0.48334	0.574;0.342	T	0.65772	-0.6087	8	.	.	.	-29.4985	13.6573	0.62346	0.156:0.844:0.0:0.0	.	393;495	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	V	495	.	.	A	+	2	0	RAB11FIP4	26879671	1.000000	0.71417	0.860000	0.33809	0.099000	0.18886	5.715000	0.68430	1.409000	0.46915	-0.182000	0.12963	GCG		0.612	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		7	138	0	0	0	0.307466	0	7	138				
CHMP1A	5119	broad.mit.edu	37	16	89715806	89715806	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr16:89715806C>T	ENST00000397901.3	-	4	461	c.205G>A	c.(205-207)Gta>Ata	p.V69I	CHMP1A_ENST00000550102.1_Missense_Mutation_p.V69I|CHMP1A_ENST00000547614.1_5'UTR|CHMP1A_ENST00000253475.5_Missense_Mutation_p.R62H|CHMP1A_ENST00000535997.2_Missense_Mutation_p.V5I	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	69					cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192)	condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363)	metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		ACTGCGTCTACGCGGGACGCC	0.597																																						ENST00000397901.3																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(205-207)Gta>Ata		charged multivesicular body protein 1A							91.0	107.0	101.0					16																	89715806		2164	4257	6421	SO:0001583	missense	5119				cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding	g.chr16:89715806C>T	U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165		"""Charged multivesicular body proteins"""	8740	protein-coding gene	gene with protein product		164010	"""procollagen (type III) N-endopeptidase"", ""chromatin modifying protein 1A"""	PRSM1, PCOLN3		11559748, 11559747	Standard	NM_002768		Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000397901.3:c.205G>A	16.37:g.89715806C>T	ENSP00000380998:p.Val69Ile					CHMP1A_ENST00000547614.1_5'UTR|CHMP1A_ENST00000550102.1_Missense_Mutation_p.V69I|CHMP1A_ENST00000535997.2_Missense_Mutation_p.V5I|CHMP1A_ENST00000253475.5_Missense_Mutation_p.R62H	p.V69I	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	4	461	-		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	69					A2RU09|Q14468|Q15779|Q96G31	Missense_Mutation	SNP	ENST00000397901.3	37	c.205G>A	CCDS45552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.169|9.169	1.020546|1.020546	0.19433|0.19433	.|.	.|.	ENSG00000131165|ENSG00000131165	ENST00000253475|ENST00000397901;ENST00000535997;ENST00000550102	.|T;T;T	.|0.69561	.|-0.41;-0.41;-0.41	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.740232|.	0.11125|.	N|.	0.596967|.	T|T	0.54191|0.54191	0.1843|0.1843	L|L	0.28400|0.28400	0.85|0.85	0.30063|0.30063	N|N	0.810733|0.810733	D|B	0.61080|0.20368	0.989|0.044	P|B	0.44732|0.16722	0.459|0.016	T|T	0.42137|0.42137	-0.9469|-0.9469	9|9	0.87932|0.02654	D|T	0|1	-0.0527|-0.0527	19.1332|19.1332	0.93415|0.93415	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	62|69	A6NG32|Q9HD42	.|CHM1A_HUMAN	H|I	62|69;5;69	.|ENSP00000380998:V69I;ENSP00000442120:V5I;ENSP00000449243:V69I	ENSP00000253475:R62H|ENSP00000380998:V69I	R|V	-|-	2|1	0|0	CHMP1A|CHMP1A	88243307|88243307	1.000000|1.000000	0.71417|0.71417	0.918000|0.918000	0.36340|0.36340	0.675000|0.675000	0.39556|0.39556	5.469000|5.469000	0.66749|0.66749	2.516000|2.516000	0.84829|0.84829	0.561000|0.561000	0.74099|0.74099	CGT|GTA		0.597	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404581.1	NM_002768		67	137	0	0	0	0.870114	0	67	137				
KRT36	8689	broad.mit.edu	37	17	39642800	39642800	+	Missense_Mutation	SNP	G	G	A	rs369076801		TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr17:39642800G>A	ENST00000328119.6	-	7	1231	c.1232C>T	c.(1231-1233)aCg>aTg	p.T411M	KRT36_ENST00000393986.2_Missense_Mutation_p.T361M	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	411	Tail.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CTTGCATGCCGTGGCACAAGG	0.577																																						ENST00000393986.2																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17						c.(1081-1083)aCg>aTg		keratin 36		G	MET/THR	0,4406		0,0,2203	32.0	30.0	30.0		1232	1.3	0.7	17		30	1,8597	1.2+/-3.3	0,1,4298	no	missense	KRT36	NM_003771.4	81	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	411/468	39642800	1,13003	2203	4299	6502	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39642800G>A	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.1232C>T	17.37:g.39642800G>A	ENSP00000329165:p.Thr411Met					KRT36_ENST00000328119.6_Missense_Mutation_p.T411M	p.T361M			O76013	KRT36_HUMAN			8	1294	-		Breast(137;0.000286)	411			Coil 2.|Rod.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.1082C>T	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	G	7.972	0.749269	0.15710	0.0	1.16E-4	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.82711	-1.64;-1.52	5.41	1.26	0.21427	.	0.399288	0.21333	N	0.076276	T	0.73753	0.3627	L	0.46157	1.445	0.26795	N	0.969323	P	0.38250	0.624	B	0.32864	0.154	T	0.65348	-0.6190	10	0.66056	D	0.02	.	10.0377	0.42139	0.2271:0.0:0.7729:0.0	.	411	O76013	KRT36_HUMAN	M	361;411	ENSP00000377555:T361M;ENSP00000329165:T411M	ENSP00000329165:T411M	T	-	2	0	KRT36	36896326	0.097000	0.21791	0.723000	0.30687	0.101000	0.19017	0.140000	0.16056	0.130000	0.18549	-1.267000	0.01435	ACG		0.577	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		4	25	0	0	0	0.184627	0	4	25				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		5	42	0	0	0	0.217242	0	5	42				
LGR5	8549	broad.mit.edu	37	12	71978453	71978453	+	Missense_Mutation	SNP	C	C	T	rs369268162		TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr12:71978453C>T	ENST00000266674.5	+	18	2974	c.2663C>T	c.(2662-2664)cCa>cTa	p.P888L	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.P864L|LGR5_ENST00000536515.1_Missense_Mutation_p.P816L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	888					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTGCCATCACCAGCTTATCCA	0.458																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(2662-2664)cCa>cTa		leucine-rich repeat containing G protein-coupled receptor 5		C	LEU/PRO	0,4406		0,0,2203	137.0	130.0	132.0		2663	5.8	0.1	12		132	2,8598	2.2+/-6.3	0,2,4298	no	missense	LGR5	NM_003667.2	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	888/908	71978453	2,13004	2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71978453C>T	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2663C>T	12.37:g.71978453C>T	ENSP00000266674:p.Pro888Leu					LGR5_ENST00000540815.2_Missense_Mutation_p.P864L|LGR5_ENST00000536515.1_Missense_Mutation_p.P816L	p.P888L			O75473	LGR5_HUMAN			18	2974	+			888					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.2663C>T	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312005	0.23821	0.0	2.33E-4	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	T;T;T	0.57273	0.47;0.41;0.54	5.82	5.82	0.92795	.	0.396843	0.24599	N	0.037141	T	0.43166	0.1235	N	0.22421	0.69	0.38556	D	0.949576	B;B	0.30361	0.277;0.181	B;B	0.27380	0.079;0.036	T	0.36335	-0.9752	10	0.39692	T	0.17	.	20.1016	0.97878	0.0:1.0:0.0:0.0	.	864;888	O75473-2;O75473	.;LGR5_HUMAN	L	888;816;864	ENSP00000266674:P888L;ENSP00000443033:P816L;ENSP00000441035:P864L	ENSP00000266674:P888L	P	+	2	0	LGR5	70264720	0.280000	0.24249	0.109000	0.21407	0.198000	0.23893	4.078000	0.57606	2.748000	0.94277	0.585000	0.79938	CCA		0.458	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		86	177	0	0	0	0.870114	0	86	177				
DMRTC2	63946	broad.mit.edu	37	19	42353197	42353197	+	Splice_Site	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr19:42353197G>A	ENST00000269945.3	+	6	679		c.e6-1		DMRTC2_ENST00000596827.1_Splice_Site	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2						male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						ATTCTTATTAGGCTTTGACCC	0.527																																						ENST00000269945.3																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.e6-1		DMRT-like family C2							136.0	138.0	137.0					19																	42353197		2203	4300	6503	SO:0001630	splice_region_variant	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42353197G>A	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.629-1G>A	19.37:g.42353197G>A						DMRTC2_ENST00000596827.1_Splice_Site		NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN			6	679	+								Q8N6Q2|Q96M39|Q96SD4	Splice_Site	SNP	ENST00000269945.3	37		CCDS33034.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454524	0.43634	.	.	ENSG00000142025	ENST00000269945	.	.	.	4.86	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5333	0.44990	0.0:0.0:0.8063:0.1937	.	.	.	.	.	-1	.	.	.	+	.	.	DMRTC2	47045037	1.000000	0.71417	0.989000	0.46669	0.786000	0.44442	4.360000	0.59455	1.128000	0.42052	0.462000	0.41574	.		0.527	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283	Intron	6	181	0	0	0	0.248553	0	6	181				
FLG	2312	broad.mit.edu	37	1	152282227	152282227	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:152282227C>T	ENST00000368799.1	-	3	5170	c.5135G>A	c.(5134-5136)cGa>cAa	p.R1712Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1712	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R1712P(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGGACCCTCGGTTTCCACT	0.592									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.R1712P(1)	upper_aerodigestive_tract(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5134-5136)cGa>cAa		filaggrin							222.0	226.0	225.0					1																	152282227		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282227C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5135G>A	1.37:g.152282227C>T	ENSP00000357789:p.Arg1712Gln					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R1712Q	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5170	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1712			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5135G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.994	0.978553	0.18812	.	.	ENSG00000143631	ENST00000368799	T	0.04015	3.73	3.68	-7.35	0.01422	.	.	.	.	.	T	0.01489	0.0048	L	0.35723	1.085	0.09310	N	1	D	0.63880	0.993	P	0.51945	0.685	T	0.06023	-1.0850	9	0.13108	T	0.6	.	7.2206	0.25985	0.0:0.2081:0.3026:0.4893	.	1712	P20930	FILA_HUMAN	Q	1712	ENSP00000357789:R1712Q	ENSP00000357789:R1712Q	R	-	2	0	FLG	150548851	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.563000	0.02154	-2.267000	0.00686	-3.525000	0.00032	CGA		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		16	574	0	0	0	0.520397	0	16	574				
RIF1	55183	broad.mit.edu	37	2	152293371	152293371	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:152293371C>A	ENST00000243326.5	+	11	1709	c.1226C>A	c.(1225-1227)aCt>aAt	p.T409N	RIF1_ENST00000444746.2_Missense_Mutation_p.T409N|RIF1_ENST00000433166.2_Missense_Mutation_p.L339I|RIF1_ENST00000430328.2_Missense_Mutation_p.T409N|RIF1_ENST00000428287.2_Missense_Mutation_p.T409N|RIF1_ENST00000453091.2_Missense_Mutation_p.T409N			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCCCCGGGAACTCCCCGAATG	0.418																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(1225-1227)aCt>aAt		RAP1 interacting factor homolog (yeast)							53.0	51.0	52.0					2																	152293371		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152293371C>A	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1226C>A	2.37:g.152293371C>A	ENSP00000243326:p.Thr409Asn					RIF1_ENST00000444746.2_Missense_Mutation_p.T409N|RIF1_ENST00000428287.2_Missense_Mutation_p.T409N|RIF1_ENST00000430328.2_Missense_Mutation_p.T409N|RIF1_ENST00000433166.2_Missense_Mutation_p.L339I|RIF1_ENST00000453091.2_Missense_Mutation_p.T409N	p.T409N			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	11	1709	+			409					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.1226C>A	CCDS2194.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	19.36|19.36|19.36	3.812264|3.812264|3.812264	0.70912|0.70912|0.70912	.|.|.	.|.|.	ENSG00000080345|ENSG00000080345|ENSG00000080345	ENST00000433166|ENST00000414861|ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.|.|T;T;T;T;T	.|.|0.19394	.|.|2.15;2.16;2.16;2.15;2.16	5.33|5.33|5.33	3.46|3.46|3.46	0.39613|0.39613|0.39613	.|.|.	.|.|0.146288	.|.|0.64402	.|.|N	.|.|0.000010	T|T|T	0.40171|0.40171|0.40171	0.1106|0.1106|0.1106	M|M|M	0.62723|0.62723|0.62723	1.935|1.935|1.935	0.22199|0.22199|0.22199	N|N|N	0.999297|0.999297|0.999297	.|.|D;D	.|.|0.65815	.|.|0.995;0.993	.|.|D;P	.|.|0.63113	.|.|0.911;0.854	T|T|T	0.27468|0.27468|0.27468	-1.0073|-1.0073|-1.0073	6|5|10	0.15952|.|0.72032	T|.|D	0.53|.|0.01	-8.3635|-8.3635|-8.3635	13.8319|13.8319|13.8319	0.63386|0.63386|0.63386	0.2793:0.7207:0.0:0.0|0.2793:0.7207:0.0:0.0|0.2793:0.7207:0.0:0.0	.|.|.	.|.|409;409	.|.|Q5UIP0;Q5UIP0-2	.|.|RIF1_HUMAN;.	I|K|N	339|400|409	.|.|ENSP00000390181:T409N;ENSP00000414615:T409N;ENSP00000415691:T409N;ENSP00000243326:T409N;ENSP00000416123:T409N	ENSP00000396865:L339I|.|ENSP00000243326:T409N	L|N|T	+|+|+	1|3|2	0|2|0	RIF1|RIF1|RIF1	152001617|152001617|152001617	0.961000|0.961000|0.961000	0.32948|0.32948|0.32948	0.040000|0.040000|0.040000	0.18447|0.18447|0.18447	0.466000|0.466000|0.466000	0.32739|0.32739|0.32739	2.329000|2.329000|2.329000	0.43876|0.43876|0.43876	0.572000|0.572000|0.572000	0.29383|0.29383|0.29383	0.557000|0.557000|0.557000	0.71058|0.71058|0.71058	CTC|AAC|ACT		0.418	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			11	114	1	0	4.68919e-08	0.361761	5.08827e-08	11	114				
MIB2	142678	broad.mit.edu	37	1	1560729	1560729	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:1560729A>G	ENST00000357210.4	+	7	1175	c.959A>G	c.(958-960)aAg>aGg	p.K320R	MIB2_ENST00000505820.2_Missense_Mutation_p.K377R|MIB2_ENST00000520777.1_Missense_Mutation_p.K377R|MIB2_ENST00000504599.1_Missense_Mutation_p.K276R|MIB2_ENST00000355826.5_Missense_Mutation_p.K363R|MIB2_ENST00000378708.1_Missense_Mutation_p.K262R|MIB2_ENST00000378712.1_Missense_Mutation_p.K197R|MIB2_ENST00000378710.3_Missense_Mutation_p.K320R|MIB2_ENST00000518681.1_Missense_Mutation_p.K312R|MIB2_ENST00000360522.4_Missense_Mutation_p.K320R	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	320					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACGGGGACAAGGTCAAGTGT	0.697																																						ENST00000357210.4																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(958-960)aAg>aGg		mindbomb E3 ubiquitin protein ligase 2							16.0	20.0	19.0					1																	1560729		2021	4209	6230	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1560729A>G	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.959A>G	1.37:g.1560729A>G	ENSP00000349741:p.Lys320Arg					MIB2_ENST00000520777.1_Missense_Mutation_p.K377R|MIB2_ENST00000378708.1_Missense_Mutation_p.K262R|MIB2_ENST00000378712.1_Missense_Mutation_p.K197R|MIB2_ENST00000518681.1_Missense_Mutation_p.K312R|MIB2_ENST00000360522.4_Missense_Mutation_p.K320R|MIB2_ENST00000505820.2_Missense_Mutation_p.K377R|MIB2_ENST00000355826.5_Missense_Mutation_p.K363R|MIB2_ENST00000504599.1_Missense_Mutation_p.K276R|MIB2_ENST00000378710.3_Missense_Mutation_p.K320R	p.K320R	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	7	1175	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	320					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.959A>G		.	.	.	.	.	.	.	.	.	.	A	12.69	2.012436	0.35511	.	.	ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708	T;T;T;T;T;T;T;T;T;T	0.67345	1.21;1.27;1.26;1.23;1.25;1.24;1.24;-0.26;1.26;1.25	4.39	4.39	0.52855	.	0.164149	0.50627	D	0.000101	T	0.61048	0.2316	L	0.38175	1.15	0.48632	D	0.999686	B;P;P;D;D;B	0.55800	0.296;0.871;0.846;0.973;0.968;0.014	B;P;P;P;P;B	0.49887	0.172;0.622;0.557;0.576;0.625;0.042	T	0.56366	-0.7991	10	0.14252	T	0.57	-10.1782	12.7869	0.57512	1.0:0.0:0.0:0.0	.	320;197;312;377;306;320	Q96AX9-5;B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.;.;.;.;.;MIB2_HUMAN	R	377;320;320;320;363;312;377;197;276;262	ENSP00000428660:K377R;ENSP00000349741:K320R;ENSP00000353713:K320R;ENSP00000367982:K320R;ENSP00000348081:K363R;ENSP00000428264:K312R;ENSP00000426103:K377R;ENSP00000367984:K197R;ENSP00000426128:K276R;ENSP00000367980:K262R	ENSP00000348081:K363R	K	+	2	0	MIB2	1550592	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	8.797000	0.91882	1.625000	0.50366	0.254000	0.18369	AAG		0.697	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		2	6	0	0	0	0.115264	0	2	6				
PICALM	8301	broad.mit.edu	37	11	85692181	85692181	+	Silent	SNP	A	A	C	rs76719109	byFrequency	TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:85692181A>C	ENST00000393346.3	-	17	1918	c.1770T>G	c.(1768-1770)gcT>gcG	p.A590A	PICALM_ENST00000526033.1_Silent_p.A583A|PICALM_ENST00000528398.1_Silent_p.A489A|PICALM_ENST00000532317.1_Silent_p.A540A|PICALM_ENST00000356360.5_Silent_p.A590A			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	590					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)	p.A590A(1)		endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CCATTGTTGCAGCATTCCAAG	0.343			T	"""MLLT10, MLL"""	"""TALL, AML, """								A|||	3119	0.622804	0.6097	0.585	5008	,	,		17069	0.6577		0.5875	False		,,,				2504	0.6677					ENST00000526033.1				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	"""MLLT10, MLL"""		"""TALL, AML, """		1	Substitution - coding silent(1)	p.A590A(1)	urinary_tract(1)	endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1747-1749)gcT>gcG		phosphatidylinositol binding clathrin assembly protein		A	,,,	2726,1680	655.1+/-399.9	837,1052,314	137.0	131.0	133.0		1620,1749,1467,1770	3.2	1.0	11	dbSNP_130	133	5119,3479	635.7+/-399.0	1546,2027,726	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PICALM	NM_001008660.2,NM_001206946.1,NM_001206947.1,NM_007166.3	,,,	2383,3079,1040	CC,CA,AA		40.4629,38.1298,39.6724	,,,	540/611,583/646,489/552,590/653	85692181	7845,5159	2203	4299	6502	SO:0001819	synonymous_variant	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85692181A>C	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1770T>G	11.37:g.85692181A>C						PICALM_ENST00000356360.5_Silent_p.A590A|PICALM_ENST00000532317.1_Silent_p.A540A|PICALM_ENST00000528398.1_Silent_p.A489A|PICALM_ENST00000393346.3_Silent_p.A590A	p.A583A	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN			17	2065	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	590					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Silent	SNP	ENST00000393346.3	37	c.1749T>G	CCDS8272.1	1306|1306	0.597985347985348|0.597985347985348	296|296	0.6016260162601627|0.6016260162601627	205|205	0.5662983425414365|0.5662983425414365	363|363	0.6346153846153846|0.6346153846153846	442|442	0.58311345646438|0.58311345646438	A|A	10.76|10.76	1.440820|1.440820	0.25900|0.25900	0.618702|0.618702	0.595371|0.595371	ENSG00000073921|ENSG00000073921	ENST00000529760;ENST00000532603;ENST00000526961;ENST00000530542|ENST00000530692;ENST00000529016	.|.	.|.	.|.	5.51|5.51	3.17|3.17	0.36434|0.36434	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	1.0|1.0	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44236|0.44236	-0.9341|-0.9341	3|3	.|.	.|.	.|.	-4.4033|-4.4033	5.7025|5.7025	0.17891|0.17891	0.7376:0.0:0.1307:0.1317|0.7376:0.0:0.1307:0.1317	rs694353;rs1127490;rs1804605;rs2508687;rs3183524;rs11553488;rs17434978;rs17817702;rs56960791;rs694353|rs694353;rs1127490;rs1804605;rs2508687;rs3183524;rs11553488;rs17434978;rs17817702;rs56960791;rs694353	.|.	.|.	.|.	G|R	238;92;194;288|119;237	.|.	.|.	C|L	-|-	1|2	0|0	PICALM|PICALM	85369829|85369829	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.399000|2.399000	0.44495|0.44495	1.010000|1.010000	0.39314|0.39314	0.477000|0.477000	0.44152|0.44152	TGC|CTG		0.343	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		6	201	0	0	0	0.217242	0	6	201				
GPANK1	7918	broad.mit.edu	37	6	31630382	31630382	+	Silent	SNP	A	A	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr6:31630382A>C	ENST00000375906.1	-	4	1416	c.732T>G	c.(730-732)ccT>ccG	p.P244P	GPANK1_ENST00000375895.2_Silent_p.P244P|C6orf47-AS1_ENST00000422049.1_RNA|GPANK1_ENST00000375893.2_Silent_p.P244P|GPANK1_ENST00000375900.4_Silent_p.P244P|Y_RNA_ENST00000364337.1_RNA|C6orf47_ENST00000375911.1_5'Flank|CSNK2B_ENST00000375885.4_5'Flank|GPANK1_ENST00000375896.4_Silent_p.P244P	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	244							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						TGGGAGGCTGAGGACCCTGCG	0.632																																						ENST00000375906.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						c.(730-732)ccT>ccG		G patch domain and ankyrin repeats 1							55.0	63.0	60.0					6																	31630382		1509	2707	4216	SO:0001819	synonymous_variant	7918					intracellular	nucleic acid binding	g.chr6:31630382A>C		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.732T>G	6.37:g.31630382A>C						GPANK1_ENST00000375895.2_Silent_p.P244P|GPANK1_ENST00000375893.2_Silent_p.P244P|GPANK1_ENST00000375900.4_Silent_p.P244P|GPANK1_ENST00000375896.4_Silent_p.P244P	p.P244P	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN			4	1416	-			244					A6NG25|B0UXA2|Q5SQ49	Silent	SNP	ENST00000375906.1	37	c.732T>G	CCDS4711.1																																																																																				0.632	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		4	115	0	0	0	0.184627	0	4	115				
NIPBL	25836	broad.mit.edu	37	5	37008732	37008732	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:37008732C>G	ENST00000282516.8	+	20	4827	c.4328C>G	c.(4327-4329)tCa>tGa	p.S1443*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.S1443*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1443					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGGTATTCTCAAGATATGAA	0.274																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(4327-4329)tCa>tGa		Nipped-B homolog (Drosophila)							50.0	62.0	58.0					5																	37008732		2188	4279	6467	SO:0001587	stop_gained	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37008732C>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4328C>G	5.37:g.37008732C>G	ENSP00000282516:p.Ser1443*					NIPBL_ENST00000448238.2_Nonsense_Mutation_p.S1443*	p.S1443*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		20	4827	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1443					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	c.4328C>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	47	13.340239	0.99735	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	18.6684	0.91501	0.0:1.0:0.0:0.0	.	.	.	.	X	1443	.	ENSP00000282516:S1443X	S	+	2	0	NIPBL	37044489	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.417000	0.80156	2.456000	0.83038	0.591000	0.81541	TCA		0.274	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		11	211	0	0	0	0.411799	0	11	211				
CHRNA1	1134	broad.mit.edu	37	2	175614763	175614763	+	Missense_Mutation	SNP	C	C	T	rs137852804		TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:175614763C>T	ENST00000261007.5	-	8	1054	c.988G>A	c.(988-990)Gtc>Atc	p.V330I	CHRNA1_ENST00000348749.5_Missense_Mutation_p.V305I|CHRNA1_ENST00000409542.1_Missense_Mutation_p.V223I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V305I|AC018890.6_ENST00000442996.1_RNA	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	330			V -> I (in FCCMS; abnormally slow channel opening and closing resulting in abnormally brief current). {ECO:0000269|PubMed:10195214}.		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GAGGCAATGACGAACACCATG	0.537																																						ENST00000348749.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37	GRCh37	CM994574	CHRNA1	M	rs137852804	c.(913-915)Gtc>Atc		cholinergic receptor, nicotinic, alpha 1 (muscle)							246.0	186.0	206.0					2																	175614763		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175614763C>T	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.988G>A	2.37:g.175614763C>T	ENSP00000261007:p.Val330Ile					CHRNA1_ENST00000261007.5_Missense_Mutation_p.V330I|CHRNA1_ENST00000409542.1_Missense_Mutation_p.V223I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V305I|AC018890.6_ENST00000442996.1_RNA	p.V305I	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			7	990	-			330					B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.913G>A	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223673	0.79576	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.110841	0.64402	D	0.000010	D	0.92231	0.7536	L	0.55213	1.73	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.976	D	0.92788	0.6246	9	0.87932	D	0	.	19.1684	0.93567	0.0:1.0:0.0:0.0	.	305;330	Q53SH4;P02708	.;ACHA_HUMAN	I	305;330;223;305	ENSP00000261008:V305I;ENSP00000261007:V330I;ENSP00000387026:V223I;ENSP00000386611:V305I	ENSP00000261007:V330I	V	-	1	0	CHRNA1	175323009	1.000000	0.71417	0.992000	0.48379	0.823000	0.46562	7.815000	0.86186	2.527000	0.85204	0.655000	0.94253	GTC		0.537	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			9	139	0	0	0	0.335167	0	9	139				
SPECC1L	23384	broad.mit.edu	37	22	24717648	24717648	+	Missense_Mutation	SNP	C	C	T	rs200267920		TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr22:24717648C>T	ENST00000314328.9	+	5	985	c.700C>T	c.(700-702)Cac>Tac	p.H234Y	SPECC1L_ENST00000541492.1_Missense_Mutation_p.H234Y|SPECC1L_ENST00000416735.1_Intron|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.H234Y|SPECC1L_ENST00000437398.1_Missense_Mutation_p.H234Y	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	234					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TATTATGGCTCACCAGCCGAC	0.438																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(700-702)Cac>Tac		sperm antigen with calponin homology and coiled-coil domains 1-like							112.0	116.0	115.0					22																	24717648		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24717648C>T	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.700C>T	22.37:g.24717648C>T	ENSP00000325785:p.His234Tyr					SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000437398.1_Missense_Mutation_p.H234Y|KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.H234Y|SPECC1L_ENST00000541492.1_Missense_Mutation_p.H234Y	p.H234Y	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			5	985	+			234					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.700C>T	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801713	0.31869	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492;ENST00000440893	T;T;T;T;T	0.59364	0.27;2.75;0.27;3.27;0.72	4.91	4.91	0.64330	.	0.164032	0.53938	D	0.000057	T	0.43743	0.1261	N	0.14661	0.345	0.38973	D	0.958796	P;B	0.41008	0.735;0.325	B;B	0.40256	0.324;0.042	T	0.51124	-0.8745	10	0.45353	T	0.12	-21.8987	16.1266	0.81400	0.0:1.0:0.0:0.0	.	234;234	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	Y	262;234;234;234;234;173	ENSP00000393363:H234Y;ENSP00000405671:H234Y;ENSP00000325785:H234Y;ENSP00000439633:H234Y;ENSP00000414354:H173Y	ENSP00000325785:H234Y	H	+	1	0	SPECC1L	23047648	0.998000	0.40836	0.983000	0.44433	0.636000	0.38137	4.837000	0.62796	2.675000	0.91044	0.591000	0.81541	CAC		0.438	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		80	169	0	0	0	0.870114	0	80	169				
AHNAK	79026	broad.mit.edu	37	11	62289982	62289982	+	Silent	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:62289982G>A	ENST00000378024.4	-	5	12181	c.11907C>T	c.(11905-11907)gaC>gaT	p.D3969D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3969					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAACATCAACGTCCACCTTGG	0.498																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(11905-11907)gaC>gaT		AHNAK nucleoprotein							198.0	209.0	205.0					11																	62289982		2202	4296	6498	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62289982G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11907C>T	11.37:g.62289982G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.D3969D	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	12181	-		Melanoma(852;0.155)	3969					A1A586	Silent	SNP	ENST00000378024.4	37	c.11907C>T	CCDS31584.1																																																																																				0.498	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		45	553	0	0	0	0.870114	0	45	553				
CDH20	28316	broad.mit.edu	37	18	59174700	59174700	+	Silent	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr18:59174700G>A	ENST00000262717.4	+	6	1322	c.924G>A	c.(922-924)gaG>gaA	p.E308E	CDH20_ENST00000538374.1_Silent_p.E308E|CDH20_ENST00000536675.2_Silent_p.E308E			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCAATGCAGAGATGAAATATA	0.433																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(922-924)gaG>gaA		cadherin 20, type 2							182.0	157.0	165.0					18																	59174700		2203	4300	6503	SO:0001819	synonymous_variant	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59174700G>A	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.924G>A	18.37:g.59174700G>A						CDH20_ENST00000538374.1_Silent_p.E308E|CDH20_ENST00000536675.2_Silent_p.E308E	p.E308E			Q9HBT6	CAD20_HUMAN			6	1322	+		Colorectal(73;0.186)	308			Cadherin 3.		Q495S3	Silent	SNP	ENST00000262717.4	37	c.924G>A	CCDS11977.1																																																																																				0.433	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		13	133	0	0	0	0.457914	0	13	133				
PLXNB1	5364	broad.mit.edu	37	3	48461210	48461210	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr3:48461210G>C	ENST00000358536.4	-	11	2754	c.2485C>G	c.(2485-2487)Cca>Gca	p.P829A	PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P829A|PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	829	Pro-rich.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATGGCCCCTGGGAAAGTGGTG	0.701																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(2485-2487)Cca>Gca		plexin B1							7.0	8.0	8.0					3																	48461210		2159	4249	6408	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48461210G>C	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.2485C>G	3.37:g.48461210G>C	ENSP00000351338:p.Pro829Ala					PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P829A|PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000456774.1_Intron	p.P829A	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	11	2754	-			829			Pro-rich.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.2485C>G	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006111	0.54361	.	.	ENSG00000164050	ENST00000296440;ENST00000358536	T;T	0.02974	4.09;4.09	4.56	4.56	0.56223	.	0.420157	0.20409	N	0.092885	T	0.02012	0.0063	N	0.08118	0	0.80722	D	1	P	0.38504	0.634	B	0.33690	0.168	T	0.67534	-0.5646	10	0.41790	T	0.15	.	14.4884	0.67634	0.0:0.0:1.0:0.0	.	829	O43157	PLXB1_HUMAN	A	829	ENSP00000296440:P829A;ENSP00000351338:P829A	ENSP00000296440:P829A	P	-	1	0	PLXNB1	48436214	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.165000	0.58196	2.076000	0.62316	0.462000	0.41574	CCA		0.701	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		6	12	0	0	0	0.248553	0	6	12				
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85.0	81.0	82.0					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys					IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron	p.R172K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			51	71	0	0	0	0.870114	0	51	71				
LOC101927209	101927209	broad.mit.edu	37	1	142713956	142713956	+	lincRNA	SNP	G	G	A	rs12161184		TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:142713956G>A	ENST00000610091.1	-	0	1702																											AAGTTAAAGAGTAACCTGCAC	0.308																																						ENST00000369381.2																			0																																																			0							g.chr1:142713956G>A																													1.37:g.142713956G>A														0	649	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.308	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	54	0	0	0	0.278610	0	5	54				
FAM129B	64855	broad.mit.edu	37	9	130270474	130270474	+	Silent	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr9:130270474G>A	ENST00000373312.3	-	12	1653	c.1440C>T	c.(1438-1440)taC>taT	p.Y480Y	FAM129B_ENST00000373314.3_Silent_p.Y467Y|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	480					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGTCGTAGTCGTATTTCTGCA	0.617																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1438-1440)taC>taT		family with sequence similarity 129, member B							41.0	43.0	42.0					9																	130270474		2203	4300	6503	SO:0001819	synonymous_variant	64855						protein binding	g.chr9:130270474G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1440C>T	9.37:g.130270474G>A						FAM129B_ENST00000373314.3_Silent_p.Y467Y|FAM129B_ENST00000468379.1_Intron	p.Y480Y	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			12	1653	-			480					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent	SNP	ENST00000373312.3	37	c.1440C>T	CCDS35145.1																																																																																				0.617	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		4	71	0	0	0	0.150653	0	4	71				
GBP5	115362	broad.mit.edu	37	1	89728016	89728016	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:89728016C>T	ENST00000370459.3	-	10	1661	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Missense_Mutation_p.E512K|GBP5_ENST00000471171.1_5'Flank			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	512						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ATCATTTGCTCGTTCTGCCTT	0.463																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(1534-1536)Gag>Aag		guanylate binding protein 5							189.0	167.0	175.0					1																	89728016		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89728016C>T	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1534G>A	1.37:g.89728016C>T	ENSP00000359488:p.Glu512Lys					RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Missense_Mutation_p.E512K	p.E512K	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	11	2070	-			512					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.1534G>A	CCDS722.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008102	0.35415	.	.	ENSG00000154451	ENST00000343435;ENST00000370459	T;T	0.02301	4.35;4.35	4.86	-0.172	0.13327	Guanylate-binding protein, C-terminal (3);	0.552403	0.18469	N	0.140290	T	0.00754	0.0025	L	0.41961	1.31	0.09310	N	1	P	0.37548	0.599	B	0.29663	0.105	T	0.49634	-0.8919	10	0.39692	T	0.17	-9.5852	11.602	0.51008	0.0822:0.6539:0.2638:0.0	.	512	Q96PP8	GBP5_HUMAN	K	512	ENSP00000340396:E512K;ENSP00000359488:E512K	ENSP00000340396:E512K	E	-	1	0	GBP5	89500604	0.003000	0.15002	0.003000	0.11579	0.004000	0.04260	-0.007000	0.12810	0.188000	0.20168	-0.150000	0.13652	GAG		0.463	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		62	78	0	0	0	0.870114	0	62	78				
PCSK2	5126	broad.mit.edu	37	20	17434533	17434533	+	Silent	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr20:17434533C>T	ENST00000262545.2	+	9	1347	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	PCSK2_ENST00000536609.1_Silent_p.D309D|PCSK2_ENST00000377899.1_Silent_p.D325D	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	344	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.D344D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCCTGTACGACGAGAGCTGCT	0.597																																						ENST00000262545.2																			1	Substitution - coding silent(1)	p.D344D(1)	kidney(1)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1030-1032)gaC>gaT		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						144.0	108.0	120.0					20																	17434533		2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17434533C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1032C>T	20.37:g.17434533C>T						PCSK2_ENST00000536609.1_Silent_p.D309D|PCSK2_ENST00000377899.1_Silent_p.D325D	p.D344D	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			9	1347	+			344			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.1032C>T	CCDS13125.1																																																																																				0.597	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		20	129	0	0	0	0.654019	0	20	129				
RALYL	138046	broad.mit.edu	37	8	85774590	85774590	+	Missense_Mutation	SNP	G	G	A	rs371267637		TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr8:85774590G>A	ENST00000521268.1	+	6	1578	c.473G>A	c.(472-474)cGt>cAt	p.R158H	RALYL_ENST00000523850.1_Missense_Mutation_p.R85H|RALYL_ENST00000522455.1_Missense_Mutation_p.R158H|RALYL_ENST00000517638.1_Missense_Mutation_p.R171H|RALYL_ENST00000518566.1_Missense_Mutation_p.R147H|RALYL_ENST00000521376.1_Missense_Mutation_p.R69H|RALYL_ENST00000521695.1_Missense_Mutation_p.R158H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	158							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCGCTGAAGCGTCCCAGAGTG	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15673	0.0		0.0	False		,,,				2504	0.0					ENST00000521268.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(472-474)cGt>cAt		RALY RNA binding protein-like		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,3846		0,2,1922	59.0	61.0	60.0		512,473,473,473	5.2	1.0	8		60	1,8273		0,1,4136	no	missense,missense,missense,missense	RALYL	NM_001100391.1,NM_001100392.1,NM_001100393.1,NM_173848.5	29,29,29,29	0,3,6058	AA,AG,GG		0.0121,0.052,0.0247	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	171/305,158/292,158/292,158/292	85774590	3,12119	1924	4137	6061	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85774590G>A		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.473G>A	8.37:g.85774590G>A	ENSP00000430367:p.Arg158His					RALYL_ENST00000518566.1_Missense_Mutation_p.R147H|RALYL_ENST00000521376.1_Missense_Mutation_p.R69H|RALYL_ENST00000517638.1_Missense_Mutation_p.R171H|RALYL_ENST00000523850.1_Missense_Mutation_p.R85H|RALYL_ENST00000521695.1_Missense_Mutation_p.R158H|RALYL_ENST00000522455.1_Missense_Mutation_p.R158H	p.R158H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			6	1578	+			158					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.473G>A	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409671	0.83340	5.2E-4	1.21E-4	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.25749	2.31;2.31;2.31;2.39;2.29;1.94;1.78	5.25	5.25	0.73442	.	0.048014	0.85682	D	0.000000	T	0.49762	0.1576	L	0.58810	1.83	0.43275	D	0.995234	P;D;P;P;D	0.89917	0.755;1.0;0.953;0.939;1.0	B;D;B;P;D	0.79784	0.312;0.993;0.267;0.565;0.993	T	0.47433	-0.9118	10	0.62326	D	0.03	-4.6088	19.1979	0.93696	0.0:0.0:1.0:0.0	.	147;158;85;171;158	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	H	158;158;158;147;171;85;69	ENSP00000430394:R158H;ENSP00000428667:R158H;ENSP00000430367:R158H;ENSP00000430065:R147H;ENSP00000430128:R171H;ENSP00000428807:R85H;ENSP00000428310:R69H	ENSP00000430128:R171H	R	+	2	0	RALYL	85937145	1.000000	0.71417	0.995000	0.50966	0.777000	0.43975	7.074000	0.76791	2.599000	0.87857	0.551000	0.68910	CGT		0.507	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			6	43	0	0	0	0.248553	0	6	43				
CREB3L1	90993	broad.mit.edu	37	11	46332655	46332655	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:46332655G>A	ENST00000529193.1	+	5	1119	c.668G>A	c.(667-669)cGc>cAc	p.R223H	CREB3L1_ENST00000288400.3_Missense_Mutation_p.R223H			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	223					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CAGAGTCCCCGCTCTCTGCCC	0.687			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	ENST00000529193.1				Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12						c.(667-669)cGc>cAc		cAMP responsive element binding protein 3-like 1							35.0	41.0	39.0					11																	46332655		1992	4149	6141	SO:0001583	missense	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46332655G>A		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.668G>A	11.37:g.46332655G>A	ENSP00000434939:p.Arg223His					CREB3L1_ENST00000288400.3_Missense_Mutation_p.R223H	p.R223H			Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	5	1119	+			223					Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	37	c.668G>A	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416437	0.62511	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	T;T	0.66815	-0.23;-0.23	5.22	3.35	0.38373	.	0.360806	0.29558	N	0.011818	T	0.40743	0.1129	N	0.04636	-0.2	0.39575	D	0.969338	B	0.28850	0.225	B	0.20184	0.028	T	0.26677	-1.0096	10	0.34782	T	0.22	-33.3597	11.4066	0.49902	0.1472:0.0:0.8528:0.0	.	223	Q96BA8	CR3L1_HUMAN	H	223;223;135	ENSP00000434939:R223H;ENSP00000288400:R223H	ENSP00000288400:R223H	R	+	2	0	CREB3L1	46289231	0.996000	0.38824	1.000000	0.80357	0.971000	0.66376	2.270000	0.43355	0.596000	0.29794	0.650000	0.86243	CGC		0.687	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		5	88	0	0	0	0.184627	0	5	88				
PI4KA	5297	broad.mit.edu	37	22	21115635	21115635	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr22:21115635C>T	ENST00000572273.1	-	23	2804	c.2574G>A	c.(2572-2574)atG>atA	p.M858I	PI4KA_ENST00000255882.6_Missense_Mutation_p.M916I|PI4KA_ENST00000466162.1_5'UTR			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	858					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGTAGCAGAACATTACCTGGA	0.368																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(2746-2748)atG>atA		phosphatidylinositol 4-kinase, catalytic, alpha							108.0	97.0	101.0					22																	21115635		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21115635C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2574G>A	22.37:g.21115635C>T	ENSP00000458238:p.Met858Ile					PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000572273.1_Missense_Mutation_p.M858I	p.M916I	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		23	2834	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	858					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.2748G>A		.	.	.	.	.	.	.	.	.	.	C	9.732	1.162659	0.21538	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.29	5.29	0.74685	.	0.037649	0.85682	D	0.000000	T	0.30166	0.0756	N	0.02158	-0.66	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37502	-0.9703	9	0.02654	T	1	-40.4864	19.1301	0.93402	0.0:1.0:0.0:0.0	.	858	P42356	PI4KA_HUMAN	I	858	.	ENSP00000255882:M858I	M	-	3	0	PI4KA	19445635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.509000	0.67012	2.767000	0.95098	0.655000	0.94253	ATG		0.368	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		11	115	0	0	0	0.387290	0	11	115				
C2orf71	388939	broad.mit.edu	37	2	29294007	29294007	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:29294007G>A	ENST00000331664.5	-	1	3120	c.3121C>T	c.(3121-3123)Cca>Tca	p.P1041S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1041	Pro-rich.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GTGGTGGGTGGGCTTAGCACC	0.687																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(3121-3123)Cca>Tca		chromosome 2 open reading frame 71							33.0	40.0	38.0					2																	29294007		1958	4120	6078	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29294007G>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3121C>T	2.37:g.29294007G>A	ENSP00000332809:p.Pro1041Ser						p.P1041S	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	3120	-			1041			Pro-rich.			Missense_Mutation	SNP	ENST00000331664.5	37	c.3121C>T	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930356	0.34096	.	.	ENSG00000179270	ENST00000331664	T	0.24723	1.84	5.39	4.51	0.55191	.	0.160840	0.43260	D	0.000588	T	0.30324	0.0761	L	0.35854	1.095	0.30762	N	0.743926	P	0.52316	0.952	P	0.51550	0.673	T	0.15521	-1.0434	10	0.35671	T	0.21	-7.9898	14.1739	0.65527	0.0723:0.0:0.9277:0.0	.	1041	A6NGG8	CB071_HUMAN	S	1041	ENSP00000332809:P1041S	ENSP00000332809:P1041S	P	-	1	0	C2orf71	29147511	1.000000	0.71417	0.429000	0.26710	0.685000	0.39939	2.825000	0.48096	1.264000	0.44198	0.561000	0.74099	CCA		0.687	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		38	83	0	0	0	0.834066	0	38	83				
OSBPL3	26031	broad.mit.edu	37	7	24903215	24903215	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr7:24903215A>G	ENST00000313367.2	-	8	1128	c.677T>C	c.(676-678)cTg>cCg	p.L226P	OSBPL3_ENST00000396431.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000352860.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000431825.2_Missense_Mutation_p.L226P|OSBPL3_ENST00000396429.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000409069.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000353930.1_Missense_Mutation_p.L226P	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	226					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACAGTGCGCCAGGTCTGTGGG	0.532																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(676-678)cTg>cCg		oxysterol binding protein-like 3							105.0	91.0	96.0					7																	24903215		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24903215A>G	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.677T>C	7.37:g.24903215A>G	ENSP00000315410:p.Leu226Pro					OSBPL3_ENST00000431825.2_Missense_Mutation_p.L226P|OSBPL3_ENST00000353930.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000352860.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000409069.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000396431.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000396429.1_Missense_Mutation_p.L226P	p.L226P	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			8	1128	-			226					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.677T>C	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.597221	0.87055	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.66638	1.25;0.09;-0.22;1.48;0.09;-0.22;1.48	5.87	5.87	0.94306	.	0.156137	0.44902	D	0.000418	T	0.81777	0.4894	M	0.79693	2.465	0.80722	D	1	D;D;D;D	0.63880	0.993;0.993;0.981;0.988	D;D;P;P	0.66602	0.945;0.945;0.888;0.882	T	0.83015	-0.0170	10	0.49607	T	0.09	-16.9613	16.2813	0.82687	1.0:0.0:0.0:0.0	.	226;226;226;226	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	P	226	ENSP00000315410:L226P;ENSP00000315331:L226P;ENSP00000315277:L226P;ENSP00000389779:L226P;ENSP00000379708:L226P;ENSP00000379706:L226P;ENSP00000386953:L226P	ENSP00000315410:L226P	L	-	2	0	OSBPL3	24869740	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.923000	0.92808	2.244000	0.73946	0.533000	0.62120	CTG		0.532	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			7	116	0	0	0	0.248553	0	7	116				
SERPINB3	6317	broad.mit.edu	37	18	61323264	61323264	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr18:61323264A>C	ENST00000283752.5	-	8	943	c.800T>G	c.(799-801)aTg>aGg	p.M267R	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.M215R	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	267					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGTCCATTCCATCAATTTCTC	0.378																																						ENST00000283752.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(799-801)aTg>aGg		serpin peptidase inhibitor, clade B (ovalbumin), member 3							91.0	82.0	85.0					18																	61323264		2203	4300	6503	SO:0001583	missense	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61323264A>C	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.800T>G	18.37:g.61323264A>C	ENSP00000283752:p.Met267Arg					SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.M215R	p.M267R	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN			8	943	-			267					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.800T>G	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	A	1.818	-0.472988	0.04445	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.83506	-1.73;-1.73	3.07	0.594	0.17485	Serpin domain (3);	1.832770	0.03174	N	0.171210	T	0.65668	0.2713	N	0.11000	0.08	0.09310	N	1	B;B	0.22746	0.074;0.02	B;B	0.28553	0.091;0.026	T	0.53078	-0.8489	10	0.16420	T	0.52	.	0.7547	0.00996	0.4638:0.1679:0.2048:0.1635	.	215;267	P29508-2;P29508	.;SPB3_HUMAN	R	267;215	ENSP00000283752:M267R;ENSP00000329498:M215R	ENSP00000283752:M267R	M	-	2	0	SERPINB3	59474244	0.000000	0.05858	0.001000	0.08648	0.092000	0.18411	-1.060000	0.03475	0.132000	0.18615	0.369000	0.22263	ATG		0.378	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		26	115	0	0	0	0.706142	0	26	115				
MYO7A	4647	broad.mit.edu	37	11	76922334	76922334	+	Silent	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:76922334G>A	ENST00000409709.3	+	45	6461	c.6189G>A	c.(6187-6189)ctG>ctA	p.L2063L	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Silent_p.L2025L|MYO7A_ENST00000409619.2_Silent_p.L2014L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2063	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGCGGGAGCTGGTGCCCCAGG	0.652																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(6187-6189)ctG>ctA		myosin VIIA							25.0	30.0	28.0					11																	76922334		2029	4180	6209	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76922334G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.6189G>A	11.37:g.76922334G>A						MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Silent_p.L2014L|MYO7A_ENST00000458637.2_Silent_p.L2025L	p.L2063L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			45	6461	+			2063			FERM 2.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.6189G>A	CCDS53683.1																																																																																				0.652	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		2	5	0	0	0	0.115264	0	2	5				
C5orf34	375444	broad.mit.edu	37	5	43506030	43506030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:43506030C>T	ENST00000306862.2	-	4	1127	c.752G>A	c.(751-753)tGg>tAg	p.W251*	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	251										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					AGGATATTTCCATTCCTCTGG	0.408																																						ENST00000306862.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21						c.(751-753)tGg>tAg		chromosome 5 open reading frame 34							113.0	115.0	114.0					5																	43506030		2203	4300	6503	SO:0001587	stop_gained	375444							g.chr5:43506030C>T	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.752G>A	5.37:g.43506030C>T	ENSP00000303490:p.Trp251*					RP11-159F24.3_ENST00000505645.1_RNA	p.W251*	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN			4	1127	-	Lung NSC(6;2.07e-05)		251						Nonsense_Mutation	SNP	ENST00000306862.2	37	c.752G>A	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	C	38	7.032519	0.98017	.	.	ENSG00000172244	ENST00000306862;ENST00000509489	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2296	16.5572	0.84488	0.0:1.0:0.0:0.0	.	.	.	.	X	251;137	.	ENSP00000303490:W251X	W	-	2	0	C5orf34	43541787	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.472000	0.66768	2.351000	0.79841	0.591000	0.81541	TGG		0.408	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		22	243	0	0	0	0.608945	0	22	243				
ADRB2	154	broad.mit.edu	37	5	148206922	148206922	+	Silent	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:148206922C>T	ENST00000305988.4	+	1	767	c.528C>T	c.(526-528)gcC>gcT	p.A176A		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	176					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	GGTACCGGGCCACCCACCAGG	0.537																																						ENST00000305988.4																			0				endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14						c.(526-528)gcC>gcT		adrenoceptor beta 2, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						205.0	181.0	189.0					5																	148206922		2203	4300	6503	SO:0001819	synonymous_variant	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148206922C>T	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.528C>T	5.37:g.148206922C>T							p.A176A	NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	767	+			176					B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Silent	SNP	ENST00000305988.4	37	c.528C>T	CCDS4292.1																																																																																				0.537	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		20	275	0	0	0	0.575678	0	20	275				
CATSPER1	117144	broad.mit.edu	37	11	65790440	65790440	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:65790440G>A	ENST00000312106.5	-	2	1446	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	437					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ATCATTTCCCGGAAGCCCTGA	0.557											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1309-1311)Cgg>Tgg		cation channel, sperm associated 1							108.0	108.0	108.0					11																	65790440		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65790440G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1309C>T	11.37:g.65790440G>A	ENSP00000309052:p.Arg437Trp		OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086		p.R437W	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			2	1446	-			437					Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.1309C>T	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059850	0.55325	.	.	ENSG00000175294	ENST00000312106	D	0.97924	-4.61	5.1	2.14	0.27477	.	0.650151	0.11787	N	0.529615	D	0.93641	0.7969	L	0.42245	1.32	0.09310	N	1	P	0.37955	0.612	B	0.27170	0.077	D	0.87998	0.2754	10	0.87932	D	0	-10.5498	5.6372	0.17544	0.0914:0.0:0.559:0.3496	.	437	Q8NEC5	CTSR1_HUMAN	W	437	ENSP00000309052:R437W	ENSP00000309052:R437W	R	-	1	2	CATSPER1	65547016	0.022000	0.18835	0.002000	0.10522	0.048000	0.14542	0.931000	0.28871	0.299000	0.22661	0.563000	0.77884	CGG		0.557	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		70	109	0	0	0	0.870114	0	70	109				
LOC101927533	101927533	broad.mit.edu	37	2	65894933	65894933	+	lincRNA	DEL	A	A	-			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:65894933delA	ENST00000377977.3	+	0	862				AC007389.4_ENST00000583614.1_RNA																							TCAGAGGTTTAAAAAAAAAAA	0.517																																						ENST00000377977.3																			0																																																			0							g.chr2:65894933delA																													2.37:g.65894933delA														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.517	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			3	4						3	4	---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	143100927	143100932	+	In_Frame_Del	DEL	TTCAGA	TTCAGA	-			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr3:143100927_143100932delTTCAGA	ENST00000316549.6	-	13	1702_1707	c.1494_1499delTCTGAA	c.(1492-1500)aatctgaag>aag	p.NL498del	SLC9A9-AS2_ENST00000490153.1_RNA	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	498					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GGGGTCCTCCTTCAGATTTTCATCCA	0.442																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1492-1500)aag>aa		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9																																				SO:0001651	inframe_deletion	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143100927_143100932delTTCAGA	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1494_1499delTCTGAA	3.37:g.143100927_143100932delTTCAGA	ENSP00000320246:p.Asn498_Leu499del					SLC9A9-AS2_ENST00000490153.1_RNA	p.NLK498del	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			13	1702_1707	-			498					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	In_Frame_Del	DEL	ENST00000316549.6	37	c.1494_1499delTCTGAA	CCDS33872.1																																																																																				0.442	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		8	538						8	538	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179.0	176.0	177.0					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		7	513						7	513	---	---	---	---
NRL	4901	broad.mit.edu	37	14	24551825	24551826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr14:24551825_24551826insG	ENST00000561028.1	-	2	551_552	c.232_233insC	c.(232-234)ctgfs	p.L78fs	NRL_ENST00000396995.1_5'Flank|NRL_ENST00000560550.1_5'Flank|NRL_ENST00000396997.1_Frame_Shift_Ins_p.L78fs|NRL_ENST00000397002.2_Frame_Shift_Ins_p.L78fs			P54845	NRL_HUMAN	neural retina leucine zipper	78	Minimal transactivation domain (MTD).				positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of rhodopsin gene expression (GO:0007468)|response to stimulus (GO:0050896)|retinal rod cell development (GO:0046548)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		CTGCTGCTGCAGGGTAGCCAGC	0.663																																						ENST00000561028.1																			0				lung(2)	2						c.(232-234)gcafs		neural retina leucine zipper																																				SO:0001589	frameshift_variant	4901				response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding	g.chr14:24551825_24551826insG		CCDS9608.1	14q11.1-q11.2	2013-01-08			ENSG00000129535	ENSG00000129535			8002	protein-coding gene	gene with protein product		162080				1427865, 10192380	Standard	NM_006177		Approved	D14S46E, RP27, NRL-MAF	uc021rrk.1	P54845	OTTHUMG00000028789	ENST00000561028.1:c.233dupC	14.37:g.24551828_24551828dupG	ENSP00000454062:p.Leu78fs					NRL_ENST00000397002.2_Frame_Shift_Ins_p.A78fs|NRL_ENST00000396997.1_Frame_Shift_Ins_p.A78fs	p.A78fs			P54845	NRL_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	551_552	-			78					A8MX14|Q53XD0	Frame_Shift_Ins	INS	ENST00000561028.1	37	c.232_233insC	CCDS9608.1																																																																																				0.663	NRL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415595.1			7	53						7	53	---	---	---	---
CTD-2251F13.1	0	broad.mit.edu	37	14	30677426	30677429	+	lincRNA	DEL	GGAG	GGAG	-	rs146689527	byFrequency	TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr14:30677426_30677429delGGAG	ENST00000508469.2	-	0	69																											TAGCAATAAAggagggagggaggg	0.466														890	0.177716	0.3018	0.1081	5008	,	,		21278	0.1319		0.1312	False		,,,				2504	0.1544					ENST00000508469.2																			0																																																			0							g.chr14:30677426_30677429delGGAG																													14.37:g.30677434_30677437delGGAG														0	69	-									RNA	DEL	ENST00000508469.2	37																																																																																						0.466	CTD-2251F13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409382.1			3	6						3	6	---	---	---	---
RP11-433J8.2	0	broad.mit.edu	37	14	97235205	97235205	+	lincRNA	DEL	T	T	-	rs140335116|rs554550157	byFrequency	TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr14:97235205delT	ENST00000556669.1	+	0	188																											tctccctcccttccttcctat	0.537													|||unknown(STR3?)	242	0.0483227	0.0492	0.0663	5008	,	,		16326	0.002		0.0795	False		,,,				2504	0.0501					ENST00000556669.1																			0																																																			0							g.chr14:97235205delT																													14.37:g.97235205delT														0	188	+									RNA	DEL	ENST00000556669.1	37																																																																																						0.537	RP11-433J8.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000413499.2			4	9						4	9	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42797299	42797300	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr19:42797299_42797300delTC	ENST00000575354.2	+	15	3701_3702	c.3661_3662delTC	c.(3661-3663)tctfs	p.S1221fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.S2128fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.S1219fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1221	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGCCCCAGAGTCTGAGCTTGAG	0.718			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(6382-6384)tfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42797299_42797300delTC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3661_3662delTC	19.37:g.42797299_42797300delTC	ENSP00000458663:p.Ser1221fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.S1219fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.S1221fs	p.S2128fs			Q96RK0	CIC_HUMAN			16	6450_6451	+		Prostate(69;0.00682)	1221					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.6382_6383delTC	CCDS12601.1																																																																																				0.718	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			9	7						9	7	---	---	---	---
