#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
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	23	0	0	0	0.004672	0	3	23				
PPIG	9360	broad.mit.edu	37	2	170460747	170460747	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:170460747G>A	ENST00000260970.3	+	4	332	c.112G>A	c.(112-114)Gag>Aag	p.E38K	PPIG_ENST00000409714.3_Missense_Mutation_p.E38K|PPIG_ENST00000462903.1_Missense_Mutation_p.E38K|PPIG_ENST00000448752.2_Missense_Mutation_p.E38K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	38	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CAAAACATGCGAGAACTTTCG	0.343																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(112-114)Gag>Aag		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						130.0	129.0	129.0					2																	170460747		2203	4300	6503	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170460747G>A	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.112G>A	2.37:g.170460747G>A	ENSP00000260970:p.Glu38Lys					PPIG_ENST00000448752.2_Missense_Mutation_p.E38K|PPIG_ENST00000409714.3_Missense_Mutation_p.E38K|PPIG_ENST00000462903.1_Missense_Mutation_p.E38K	p.E38K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			4	332	+			38			PPIase cyclophilin-type.		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.112G>A	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	G	35	5.434310	0.96150	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000409714;ENST00000462903;ENST00000448752;ENST00000418888;ENST00000414307	T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83	5.13	5.13	0.70059	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.53158	0.1779	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.994	D;D;P;P	0.85130	0.997;0.997;0.85;0.821	T	0.48445	-0.9035	10	0.28530	T	0.3	-14.6774	18.9436	0.92613	0.0:0.0:1.0:0.0	.	38;38;38;38	E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;PPIG_HUMAN	K	38	ENSP00000260970:E38K;ENSP00000386245:E38K;ENSP00000435987:E38K;ENSP00000407083:E38K;ENSP00000394202:E38K;ENSP00000402222:E38K	ENSP00000260970:E38K	E	+	1	0	PPIG	170168993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.513000	0.98010	2.541000	0.85698	0.591000	0.81541	GAG		0.343	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			28	94	0	0	0	0.050027	0	28	94				
NMD3	51068	broad.mit.edu	37	3	160952983	160952983	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:160952983G>A	ENST00000460469.1	+	6	1015	c.560G>A	c.(559-561)cGt>cAt	p.R187H	NMD3_ENST00000351193.2_Missense_Mutation_p.R187H|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Missense_Mutation_p.R187H			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	187					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AATACACTTCGTATCAAAGAG	0.249																																						ENST00000460469.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25						c.(559-561)cGt>cAt		NMD3 ribosome export adaptor							32.0	35.0	34.0					3																	160952983		2194	4270	6464	SO:0001583	missense	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160952983G>A	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.560G>A	3.37:g.160952983G>A	ENSP00000419004:p.Arg187His					NMD3_ENST00000351193.2_Missense_Mutation_p.R187H|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Missense_Mutation_p.R187H	p.R187H			Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		6	1015	+			187					D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	37	c.560G>A	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759357	0.69763	.	.	ENSG00000169251	ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000460469;ENST00000540137	T;T;T;T;T	0.44881	0.91;0.92;0.92;0.91;0.92	4.57	4.57	0.56435	.	0.105878	0.64402	D	0.000003	T	0.57636	0.2067	M	0.75264	2.295	0.47183	D	0.999347	D;D;D	0.64830	0.984;0.984;0.994	P;P;P	0.57911	0.767;0.829;0.727	T	0.61907	-0.6966	10	0.56958	D	0.05	-29.7645	12.3097	0.54922	0.087:0.0:0.913:0.0	.	187;187;187	B3KT11;C9JA08;Q96D46	.;.;NMD3_HUMAN	H	187;187;187;187;187;67	ENSP00000419030:R187H;ENSP00000307525:R187H;ENSP00000417559:R187H;ENSP00000418908:R187H;ENSP00000419004:R187H	ENSP00000307525:R187H	R	+	2	0	NMD3	162435677	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.674000	0.68117	2.243000	0.73865	0.591000	0.81541	CGT		0.249	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		26	29	0	0	0	0.108266	0	26	29				
ALDH3B2	222	broad.mit.edu	37	11	67433865	67433865	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr11:67433865G>A	ENST00000349015.3	-	5	597	c.159C>T	c.(157-159)tgC>tgT	p.C53C	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Silent_p.C53C	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	53					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						TCAGCACCACGCAACTCCCTG	0.672																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(157-159)tgC>tgT		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)						24.0	24.0	24.0					11																	67433865		2200	4293	6493	SO:0001819	synonymous_variant	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67433865G>A	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.159C>T	11.37:g.67433865G>A						ALDH3B2_ENST00000530069.1_Silent_p.C53C	p.C53C	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN			5	597	-			53					Q53Y98|Q8NAL5|Q96IB2	Silent	SNP	ENST00000349015.3	37	c.159C>T	CCDS31622.1																																																																																				0.672	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		3	8	0	0	0	0.004672	0	3	8				
DPY19L2	283417	broad.mit.edu	37	12	64020270	64020270	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr12:64020270G>C	ENST00000324472.4	-	7	1023	c.840C>G	c.(838-840)tgC>tgG	p.C280W	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	280					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TGAAAAAGAAGCACAGTACTG	0.313																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(838-840)tgC>tgG		dpy-19-like 2 (C. elegans)							10.0	13.0	12.0					12																	64020270		2103	4235	6338	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64020270G>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.840C>G	12.37:g.64020270G>C	ENSP00000315988:p.Cys280Trp					RP11-415I12.3_ENST00000509615.2_RNA	p.C280W	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	7	1023	-			280					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.840C>G	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114147	0.37339	.	.	ENSG00000177990	ENST00000324472	T	0.55760	0.5	2.65	1.7	0.24286	.	0.164638	0.56097	D	0.000032	T	0.47911	0.1471	M	0.63428	1.95	0.80722	D	1	P	0.37548	0.599	B	0.40982	0.345	T	0.32929	-0.9888	9	.	.	.	.	7.7794	0.29056	0.1394:0.0:0.8606:0.0	.	280	Q6NUT2	D19L2_HUMAN	W	280	ENSP00000315988:C280W	.	C	-	3	2	DPY19L2	62306537	1.000000	0.71417	0.964000	0.40570	0.890000	0.51754	2.010000	0.40913	0.402000	0.25451	0.398000	0.26397	TGC		0.313	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		10	17	0	0	0	0.058154	0	10	17				
PIEZO2	63895	broad.mit.edu	37	18	10677809	10677809	+	Silent	SNP	A	A	G			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr18:10677809A>G	ENST00000503781.3	-	49	7676	c.7677T>C	c.(7675-7677)aaT>aaC	p.N2559N	PIEZO2_ENST00000538948.1_Silent_p.N516N|PIEZO2_ENST00000302079.6_Silent_p.N2496N|PIEZO2_ENST00000580640.1_Silent_p.N2584N|PIEZO2_ENST00000285141.4_Silent_p.N351N|PIEZO2_ENST00000581680.1_5'UTR	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2559					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TTCGAGTAATATTTTTAAGAG	0.323																																						ENST00000302079.6																			0											c.(7486-7488)aaT>aaC		piezo-type mechanosensitive ion channel component 2							98.0	94.0	95.0					18																	10677809		2202	4300	6502	SO:0001819	synonymous_variant	63895					integral to membrane	ion channel activity	g.chr18:10677809A>G	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.7677T>C	18.37:g.10677809A>G						PIEZO2_ENST00000538948.1_Silent_p.N516N|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000503781.3_Silent_p.N2559N|PIEZO2_ENST00000580640.1_Silent_p.N2584N|PIEZO2_ENST00000285141.4_Silent_p.N351N	p.N2496N			Q9H5I5	PIEZ2_HUMAN			48	7487	-			2559					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	ENST00000503781.3	37	c.7488T>C																																																																																					0.323	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		5	53	0	0	0	0.014758	0	5	53				
BRINP1	1620	broad.mit.edu	37	9	122075489	122075489	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr9:122075489G>A	ENST00000265922.3	-	2	606	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	BRINP1_ENST00000373964.2_Missense_Mutation_p.H49Y	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	49					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CTGGAGTGGTGGAAAGGCCCC	0.502																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(145-147)Cac>Tac									105.0	101.0	102.0					9																	122075489		2203	4300	6503	SO:0001583	missense	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122075489G>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.145C>T	9.37:g.122075489G>A	ENSP00000265922:p.His49Tyr					DBC1_ENST00000373964.2_Missense_Mutation_p.H49Y	p.H49Y	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			2	606	-			49					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.145C>T	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553042	0.86127	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.83506	-1.73;-1.73	5.26	5.26	0.73747	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	D	0.88085	0.6342	L	0.45137	1.4	0.80722	D	1	P;P	0.49559	0.908;0.925	P;D	0.65140	0.888;0.932	D	0.88558	0.3121	10	0.59425	D	0.04	-30.2984	18.859	0.92265	0.0:0.0:1.0:0.0	.	49;49	O60477-2;O60477	.;DBC1_HUMAN	Y	49	ENSP00000265922:H49Y;ENSP00000363075:H49Y	ENSP00000265922:H49Y	H	-	1	0	DBC1	121115310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.473000	0.83533	0.561000	0.74099	CAC		0.502	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		7	46	0	0	0	0.029380	0	7	46				
SVIL	6840	broad.mit.edu	37	10	29820187	29820187	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr10:29820187G>A	ENST00000355867.4	-	10	2792	c.2040C>T	c.(2038-2040)gtC>gtT	p.V680V	SVIL_ENST00000375398.2_Silent_p.V680V|SVIL_ENST00000375400.3_Silent_p.V286V	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	680					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACTTGCCATCGACAGTTGGCG	0.358																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(2038-2040)gtC>gtT		supervillin							132.0	112.0	119.0					10																	29820187		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29820187G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2040C>T	10.37:g.29820187G>A						SVIL_ENST00000375400.3_Silent_p.V286V|SVIL_ENST00000355867.4_Silent_p.V680V	p.V680V			O95425	SVIL_HUMAN			12	2489	-		Breast(68;0.103)	680					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.2040C>T	CCDS7164.1																																																																																				0.358	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			12	37	0	0	0	0.105934	0	12	37				
PCDH11X	27328	broad.mit.edu	37	X	91090710	91090710	+	Silent	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:91090710C>T	ENST00000373094.1	+	1	1052	c.207C>T	c.(205-207)acC>acT	p.T69T	PCDH11X_ENST00000361724.1_Silent_p.T69T|PCDH11X_ENST00000406881.1_Silent_p.T69T|PCDH11X_ENST00000395337.2_Silent_p.T69T|PCDH11X_ENST00000504220.2_Silent_p.T69T|PCDH11X_ENST00000361655.2_Silent_p.T69T|PCDH11X_ENST00000298274.8_Silent_p.T69T|PCDH11X_ENST00000373097.1_Silent_p.T69T|PCDH11X_ENST00000373088.1_Silent_p.T69T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	69	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGTACAAGACCGGAGATGTGC	0.458													C|||	1	0.000264901	0.0008	0.0	3775	,	,		14186	0.0		0.0	False		,,,				2504	0.0				NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(205-207)acC>acT		protocadherin 11 X-linked							170.0	139.0	150.0					X																	91090710		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090710C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.207C>T	X.37:g.91090710C>T						PCDH11X_ENST00000373097.1_Silent_p.T69T|PCDH11X_ENST00000395337.2_Silent_p.T69T|PCDH11X_ENST00000361655.2_Silent_p.T69T|PCDH11X_ENST00000361724.1_Silent_p.T69T|PCDH11X_ENST00000373088.1_Silent_p.T69T|PCDH11X_ENST00000298274.8_Silent_p.T69T|PCDH11X_ENST00000504220.1_Silent_p.T69T|PCDH11X_ENST00000406881.1_Silent_p.T69T	p.T69T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	1052	+			69			Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.207C>T	CCDS14461.1																																																																																				0.458	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		27	134	0	0	0	0.108266	0	27	134				
LRRC8B	23507	broad.mit.edu	37	1	90048483	90048483	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr1:90048483C>T	ENST00000330947.2	+	5	634	c.274C>T	c.(274-276)Cga>Tga	p.R92*	LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.R92*|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.R92*	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	92					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GCTCCCCCTCCGAATTCAGAA	0.498																																						ENST00000330947.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(274-276)Cga>Tga		leucine rich repeat containing 8 family, member B							130.0	118.0	122.0					1																	90048483		2203	4300	6503	SO:0001587	stop_gained	23507					integral to membrane		g.chr1:90048483C>T	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.274C>T	1.37:g.90048483C>T	ENSP00000332674:p.Arg92*					LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.R92*|LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.R92*	p.R92*	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	5	634	+		all_lung(203;0.17)	92					D3DT28|Q6UY21|Q8N106|Q92627	Nonsense_Mutation	SNP	ENST00000330947.2	37	c.274C>T	CCDS724.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670030	0.67814	.	.	ENSG00000197147	ENST00000449440;ENST00000330947;ENST00000358200;ENST00000439853;ENST00000541858	.	.	.	5.09	2.83	0.33086	.	0.172988	0.39834	N	0.001253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	8.6643	0.34112	0.406:0.5039:0.0901:0.0	.	.	.	.	X	92	.	ENSP00000332674:R92X	R	+	1	2	LRRC8B	89821071	0.927000	0.31430	0.996000	0.52242	0.801000	0.45260	1.681000	0.37618	1.066000	0.40716	0.655000	0.94253	CGA		0.498	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		53	9	0	0	0	0.048971	0	53	9				
CIC	23152	broad.mit.edu	37	19	42791721	42791721	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:42791721C>T	ENST00000575354.2	+	5	647	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	CIC_ENST00000572681.2_Missense_Mutation_p.P1112S|CIC_ENST00000160740.3_Missense_Mutation_p.P203S	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	203					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)				CATCCGGCGGCCCATGAATGC	0.627			"""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.(3334-3336)Ccc>Tcc		capicua transcriptional repressor							64.0	68.0	67.0					19																	42791721		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791721C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.607C>T	19.37:g.42791721C>T	ENSP00000458663:p.Pro203Ser					CIC_ENST00000575354.2_Missense_Mutation_p.P203S|CIC_ENST00000160740.3_Missense_Mutation_p.P203S	p.P1112S			Q96RK0	CIC_HUMAN			6	3402	+		Prostate(69;0.00682)	203			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3334C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476088	0.63737	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.85133	0.5627	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88918	0.3364	8	0.87932	D	0	-12.2603	14.5138	0.67807	0.0:1.0:0.0:0.0	.	203	Q96RK0	CIC_HUMAN	S	203	.	ENSP00000160740:P203S	P	+	1	0	CIC	47483561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.351000	0.79395	2.284000	0.76573	0.555000	0.69702	CCC		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			12	24	0	0	0	0.093190	0	12	24				
NUDT10	170685	broad.mit.edu	37	X	51075880	51075880	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:51075880G>A	ENST00000376006.3	+	2	283	c.63G>A	c.(61-63)gcG>gcA	p.A21A	NUDT10_ENST00000356450.2_Silent_p.A21A	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					AGCGGGCGGCGTGCCTGTGCT	0.672																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			0				cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(61-63)gcG>gcA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							43.0	34.0	37.0					X																	51075880		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51075880G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.63G>A	X.37:g.51075880G>A						NUDT10_ENST00000356450.2_Silent_p.A21A	p.A21A	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	283	+	Ovarian(276;0.236)		21			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.63G>A	CCDS35278.1																																																																																				0.672	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		12	9	0	0	0	0.093190	0	12	9				
TTC14	151613	broad.mit.edu	37	3	180327531	180327531	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:180327531A>G	ENST00000296015.4	+	12	1646	c.1514A>G	c.(1513-1515)cAt>cGt	p.H505R	TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Missense_Mutation_p.H505R	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	505	Ser-rich.						RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CATAAGAAACATAAGAGGAAC	0.413																																						ENST00000296015.4																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(1513-1515)cAt>cGt		tetratricopeptide repeat domain 14							96.0	89.0	91.0					3																	180327531		2203	4300	6503	SO:0001583	missense	151613						RNA binding	g.chr3:180327531A>G	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1514A>G	3.37:g.180327531A>G	ENSP00000296015:p.His505Arg					TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Missense_Mutation_p.H505R	p.H505R	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	1646	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		505			Ser-rich.		G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1514A>G	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	A	2.051	-0.417831	0.04766	.	.	ENSG00000163728	ENST00000296015;ENST00000382584	T;D	0.97016	1.05;-4.21	5.92	-5.62	0.02481	.	1.312740	0.04742	N	0.422997	D	0.87481	0.6188	N	0.01705	-0.755	0.21782	N	0.999547	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.77910	-0.2411	10	0.09084	T	0.74	-0.1631	17.2105	0.86929	0.388:0.0:0.612:0.0	.	505;505	Q96N46-2;Q96N46	.;TTC14_HUMAN	R	505	ENSP00000296015:H505R;ENSP00000372027:H505R	ENSP00000296015:H505R	H	+	2	0	TTC14	181810225	0.999000	0.42202	0.697000	0.30258	0.988000	0.76386	1.187000	0.32090	-1.137000	0.02888	-0.242000	0.12053	CAT		0.413	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		17	54	0	0	0	0.033300	0	17	54				
ZC3H12B	340554	broad.mit.edu	37	X	64721755	64721755	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:64721755C>T	ENST00000338957.4	+	5	1244	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R382C	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	393							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGATGAGCTCCGCATCAGTGC	0.522																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1177-1179)Cgc>Tgc		zinc finger CCCH-type containing 12B							33.0	34.0	33.0					X																	64721755		1961	4137	6098	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64721755C>T	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1177C>T	X.37:g.64721755C>T	ENSP00000340839:p.Arg393Cys					ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R382C	p.R393C	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			5	1244	+			382					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.1177C>T	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893429	0.52121	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.32988	1.43;1.44	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.56786	-0.7921	10	0.87932	D	0	-31.1364	11.5633	0.50790	0.1784:0.8216:0.0:0.0	.	382	Q5HYM0	ZC12B_HUMAN	C	393;382;329	ENSP00000340839:R393C;ENSP00000408077:R382C	ENSP00000218172:R329C	R	+	1	0	ZC3H12B	64638480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.540000	0.53611	2.163000	0.67991	0.513000	0.50165	CGC		0.522	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		7	15	0	0	0	0.029380	0	7	15				
NOTCH1	4851	broad.mit.edu	37	9	139399401	139399401	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr9:139399401G>T	ENST00000277541.6	-	26	4817	c.4742C>A	c.(4741-4743)cCg>cAg	p.P1581Q		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1581					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGCTCCGGCGGCATCAGCAC	0.682			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(4741-4743)cCg>cAg		notch 1							15.0	21.0	19.0					9																	139399401		2164	4253	6417	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139399401G>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4742C>A	9.37:g.139399401G>T	ENSP00000277541:p.Pro1581Gln	HNSCC(8;0.001)					p.P1581Q	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	26	4817	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1581					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.4742C>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046632	0.36085	.	.	ENSG00000148400	ENST00000277541	D	0.86865	-2.18	3.84	2.63	0.31362	Notch, NOD domain (1);	0.329525	0.31450	U	0.007636	D	0.89058	0.6607	M	0.65975	2.015	0.09310	N	0.999993	D	0.53885	0.963	P	0.56474	0.799	T	0.80279	-0.1449	10	0.31617	T	0.26	.	11.2641	0.49099	0.1145:0.0:0.8855:0.0	.	1581	P46531	NOTC1_HUMAN	Q	1581	ENSP00000277541:P1581Q	ENSP00000277541:P1581Q	P	-	2	0	NOTCH1	138519222	0.996000	0.38824	0.031000	0.17742	0.449000	0.32228	2.434000	0.44802	1.686000	0.51046	0.579000	0.79373	CCG		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		2	3	1	0	0.0016	0.004672	0.00162254	2	3				
NOTCH1	4851	broad.mit.edu	37	9	139412252	139412252	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr9:139412252C>T	ENST00000277541.6	-	8	1468	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	465	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCAGGTGGCGTCGTTCTGG	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1393-1395)Gcc>Acc		notch 1							58.0	65.0	62.0					9																	139412252		2160	4236	6396	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412252C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1393G>A	9.37:g.139412252C>T	ENSP00000277541:p.Ala465Thr	HNSCC(8;0.001)					p.A465T	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1468	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	465			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1393G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	35	5.434800	0.96150	.	.	ENSG00000148400	ENST00000277541	D	0.91792	-2.91	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95582	0.8564	M	0.81179	2.53	0.80722	D	1	D	0.61697	0.99	P	0.62813	0.907	D	0.96347	0.9255	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	465	P46531	NOTC1_HUMAN	T	465	ENSP00000277541:A465T	ENSP00000277541:A465T	A	-	1	0	NOTCH1	138532073	1.000000	0.71417	0.989000	0.46669	0.924000	0.55760	5.872000	0.69636	2.088000	0.63022	0.462000	0.41574	GCC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	51	0	0	0	0.021553	0	6	51				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	6	0	0	0	0.009096	0	3	6				
SLC6A3	6531	broad.mit.edu	37	5	1409936	1409936	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:1409936C>T	ENST00000270349.9	-	10	1425	c.1298G>A	c.(1297-1299)gGg>gAg	p.G433E	SLC6A3_ENST00000453492.2_Missense_Mutation_p.G433E	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	433					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ATCGATGAGCCCGGTGATCAC	0.612																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1297-1299)gGg>gAg		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						183.0	139.0	154.0					5																	1409936		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1409936C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1298G>A	5.37:g.1409936C>T	ENSP00000270349:p.Gly433Glu					SLC6A3_ENST00000453492.2_Missense_Mutation_p.G433E	p.G433E	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		10	1425	-			433					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1298G>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961967	0.74016	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75154	-0.91;-0.91	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.87912	0.6297	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90589	0.4535	10	0.87932	D	0	.	14.0096	0.64488	0.0:1.0:0.0:0.0	.	433	Q01959	SC6A3_HUMAN	E	433	ENSP00000270349:G433E;ENSP00000399806:G433E	ENSP00000270349:G433E	G	-	2	0	SLC6A3	1462936	1.000000	0.71417	0.991000	0.47740	0.869000	0.49853	5.397000	0.66302	1.880000	0.54463	0.478000	0.44815	GGG		0.612	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		18	37	0	0	0	0.033300	0	18	37				
MROH2B	133558	broad.mit.edu	37	5	41004891	41004891	+	Silent	SNP	G	G	A	rs542700965		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:41004891G>A	ENST00000399564.4	-	36	4446	c.3996C>T	c.(3994-3996)tcC>tcT	p.S1332S	MROH2B_ENST00000506092.2_Silent_p.S887S	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1332																	GAGGAGCCCCGGATGCTGTGT	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		20152	0.0		0.001	False		,,,				2504	0.0					ENST00000399564.4																			0											c.(3994-3996)tcC>tcT		maestro heat-like repeat family member 2B							85.0	80.0	82.0					5																	41004891		1898	4126	6024	SO:0001819	synonymous_variant	133558							g.chr5:41004891G>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3996C>T	5.37:g.41004891G>A						MROH2B_ENST00000506092.2_Silent_p.S887S	p.S1332S	NM_173489.4	NP_775760.3					36	4446	-								Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.3996C>T	CCDS47202.1																																																																																				0.478	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		8	53	0	0	0	0.047766	0	8	53				
SLC11A1	6556	broad.mit.edu	37	2	219258872	219258872	+	Silent	SNP	G	G	A	rs375573580		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:219258872G>A	ENST00000233202.6	+	13	1684	c.1344G>A	c.(1342-1344)acG>acA	p.T448T	SLC11A1_ENST00000539932.1_Silent_p.T330T	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	448					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCATCCTCACGTTCACCAGCA	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19686	0.0		0.0	False		,,,				2504	0.0					ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1342-1344)acG>acA		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1		G		0,4406		0,0,2203	142.0	104.0	117.0		1344	-9.0	0.0	2		117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC11A1	NM_000578.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		448/551	219258872	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219258872G>A	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.1344G>A	2.37:g.219258872G>A						SLC11A1_ENST00000539932.1_Silent_p.T330T	p.T448T	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	1684	+		Renal(207;0.0474)	448					C0H5Y3	Silent	SNP	ENST00000233202.6	37	c.1344G>A	CCDS2415.1																																																																																				0.582	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		8	45	0	0	0	0.069234	0	8	45				
CCDC13	152206	broad.mit.edu	37	3	42754752	42754752	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:42754752C>T	ENST00000310232.6	-	14	1858	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	592										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGTGCGGTGTCGCTCCTCCTG	0.602																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(1774-1776)cGa>cAa		coiled-coil domain containing 13							113.0	104.0	107.0					3																	42754752		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42754752C>T	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1775G>A	3.37:g.42754752C>T	ENSP00000309836:p.Arg592Gln						p.R592Q	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			14	1858	-			592						Missense_Mutation	SNP	ENST00000310232.6	37	c.1775G>A	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980557	0.53827	.	.	ENSG00000244607	ENST00000310232	T	0.12465	2.68	5.26	5.26	0.73747	.	0.069979	0.56097	D	0.000033	T	0.21186	0.0510	M	0.76574	2.34	0.28465	N	0.915688	D	0.56287	0.975	P	0.47827	0.558	T	0.14783	-1.0460	10	0.16896	T	0.51	.	11.8556	0.52435	0.0:0.9147:0.0:0.0853	.	592	Q8IYE1	CCD13_HUMAN	Q	592	ENSP00000309836:R592Q	ENSP00000309836:R592Q	R	-	2	0	CCDC13	42729756	0.997000	0.39634	0.985000	0.45067	0.882000	0.50991	2.941000	0.49011	2.464000	0.83262	0.591000	0.81541	CGA		0.602	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		23	97	0	0	0	0.030593	0	23	97				
GPR112	139378	broad.mit.edu	37	X	135405538	135405538	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:135405538G>A	ENST00000394143.1	+	5	963	c.672G>A	c.(670-672)agG>agA	p.R224R	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Silent_p.R224R|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000287534.4_Silent_p.R161R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	224					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGTTGACAGGACACTGCGCT	0.433																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(670-672)agG>agA		G protein-coupled receptor 112							95.0	84.0	88.0					X																	135405538		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135405538G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.672G>A	X.37:g.135405538G>A						GPR112_ENST00000370652.1_Silent_p.R224R|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000287534.4_Silent_p.R161R	p.R224R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			5	963	+	Acute lymphoblastic leukemia(192;0.000127)		224					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.672G>A	CCDS35409.1																																																																																				0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			12	131	0	0	0	0.105934	0	12	131				
PLIN4	729359	broad.mit.edu	37	19	4511137	4511137	+	Silent	SNP	G	G	A	rs551750122		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:4511137G>A	ENST00000301286.3	-	3	2792	c.2793C>T	c.(2791-2793)acC>acT	p.T931T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	931	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTGTCTGGACGGTCCCTTTGG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		22971	0.001		0.0	False		,,,				2504	0.0					ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(2791-2793)acC>acT		perilipin 4							60.0	64.0	63.0					19																	4511137		2161	4254	6415	SO:0001819	synonymous_variant	729359					lipid particle|plasma membrane		g.chr19:4511137G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2793C>T	19.37:g.4511137G>A							p.T931T	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	2792	-			931			27 X 33 AA approximate tandem repeat.		A6NEI2	Silent	SNP	ENST00000301286.3	37	c.2793C>T	CCDS45927.1																																																																																				0.597	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		12	52	0	0	0	0.093190	0	12	52				
PLEKHG4B	153478	broad.mit.edu	37	5	169649	169649	+	Missense_Mutation	SNP	G	G	A	rs139086978	byFrequency	TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:169649G>A	ENST00000283426.6	+	12	2653	c.2603G>A	c.(2602-2604)cGg>cAg	p.R868Q		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	868	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R868Q(1)|p.R59Q(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CACTTCCTCCGGGAGCTGGAG	0.622																																						ENST00000283426.6																			2	Substitution - Missense(2)	p.R868Q(1)|p.R59Q(1)	skin(2)	endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(2602-2604)cGg>cAg		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B		G	GLN/ARG	0,4406		0,0,2203	73.0	76.0	75.0		2603	-7.1	0.0	5	dbSNP_134	75	5,8595	4.3+/-15.6	0,5,4295	yes	missense	PLEKHG4B	NM_052909.3	43	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	possibly-damaging	868/1272	169649	5,13001	2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:169649G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2603G>A	5.37:g.169649G>A	ENSP00000283426:p.Arg868Gln						p.R868Q	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	12	2653	+			868			DH.			Missense_Mutation	SNP	ENST00000283426.6	37	c.2603G>A	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353502	0.24512	0.0	5.81E-4	ENSG00000153404	ENST00000283426	T	0.62498	0.02	3.55	-7.1	0.01547	Dbl homology (DH) domain (5);	.	.	.	.	T	0.32071	0.0817	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.18561	0.022	T	0.15435	-1.0437	9	0.22706	T	0.39	.	1.5182	0.02510	0.355:0.1667:0.3442:0.1341	.	868	Q96PX9	PKH4B_HUMAN	Q	868	ENSP00000283426:R868Q	ENSP00000283426:R868Q	R	+	2	0	PLEKHG4B	222649	0.000000	0.05858	0.007000	0.13788	0.888000	0.51559	-0.052000	0.11865	-1.984000	0.00985	-0.670000	0.03821	CGG		0.622	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		30	50	0	0	0	0.041601	0	30	50				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		4	36	1	0	0.00024832	0.009096	0.000255415	4	36				
DLX4	1748	broad.mit.edu	37	17	48051291	48051291	+	Missense_Mutation	SNP	C	C	T	rs202154782		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr17:48051291C>T	ENST00000240306.3	+	3	1002	c.707C>T	c.(706-708)tCg>tTg	p.S236L	DLX4_ENST00000411890.2_Missense_Mutation_p.S164L	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	236					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S236L(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GTCCTGGCTTCGCCTCAGATG	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17706	0.0		0.0	False		,,,				2504	0.0					ENST00000240306.3																			1	Substitution - Missense(1)	p.S236L(1)	large_intestine(1)	central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						c.(706-708)tCg>tTg		distal-less homeobox 4		C	LEU/SER,LEU/SER	0,4406		0,0,2203	40.0	40.0	40.0		491,707	-0.6	0.0	17		40	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DLX4	NM_001934.2,NM_138281.2	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	164/169,236/241	48051291	1,13005	2203	4300	6503	SO:0001583	missense	0				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48051291C>T		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.707C>T	17.37:g.48051291C>T	ENSP00000240306:p.Ser236Leu					DLX4_ENST00000411890.2_Missense_Mutation_p.S164L	p.S236L	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN			3	1002	+			236					D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP	ENST00000240306.3	37	c.707C>T	CCDS11555.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	9.774	1.173571	0.21704	0.0	1.16E-4	ENSG00000108813	ENST00000240306;ENST00000411890	D;D	0.91894	-2.68;-2.93	4.84	-0.608	0.11611	.	.	.	.	.	T	0.75213	0.3819	N	0.00926	-1.1	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.65022	-0.6269	9	0.41790	T	0.15	2.7864	8.3794	0.32461	0.0:0.4325:0.0:0.5675	.	164;236	Q92988-2;Q92988	.;DLX4_HUMAN	L	236;164	ENSP00000240306:S236L;ENSP00000410622:S164L	ENSP00000240306:S236L	S	+	2	0	DLX4	45406290	0.012000	0.17670	0.001000	0.08648	0.827000	0.46813	1.282000	0.33226	-0.228000	0.09869	0.561000	0.74099	TCG		0.617	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1			20	22	0	0	0	0.055883	0	20	22				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			0							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	32	0	0	0	0.021553	0	4	32				
KIFC2	90990	broad.mit.edu	37	8	145694030	145694030	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr8:145694030G>A	ENST00000301332.2	+	9	1377	c.1000G>A	c.(1000-1002)Gca>Aca	p.A334T	KIFC2_ENST00000301331.5_Missense_Mutation_p.A82T|CYHR1_ENST00000424149.2_5'Flank|CYHR1_ENST00000306145.5_5'Flank	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	334					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGGGCAGCTGGCAGGTAAGGG	0.652																																						ENST00000301332.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19						c.(1000-1002)Gca>Aca		kinesin family member C2							38.0	44.0	42.0					8																	145694030		2203	4300	6503	SO:0001583	missense	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145694030G>A	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1000G>A	8.37:g.145694030G>A	ENSP00000301332:p.Ala334Thr					KIFC2_ENST00000301331.5_Missense_Mutation_p.A82T	p.A334T	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		9	1377	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		334					E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	c.1000G>A	CCDS6427.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.455773|4.455773	0.84209|0.84209	.|.	.|.	ENSG00000167702|ENSG00000167702	ENST00000301332;ENST00000301331|ENST00000528415	T;T|.	0.80653|.	-0.69;-1.4|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.000000|.	0.34133|.	N|.	0.004226|.	T|T	0.44767|0.44767	0.1309|0.1309	N|N	0.19112|0.19112	0.55|0.55	0.37364|0.37364	D|D	0.911346|0.911346	D|.	0.53885|.	0.963|.	P|.	0.58130|.	0.833|.	T|T	0.47761|0.47761	-0.9092|-0.9092	10|5	0.35671|.	T|.	0.21|.	-1.9415|-1.9415	13.4347|13.4347	0.61077|0.61077	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	334|.	Q96AC6|.	KIFC2_HUMAN|.	T|D	334;82|154	ENSP00000301332:A334T;ENSP00000301331:A82T|.	ENSP00000301331:A82T|.	A|G	+|+	1|2	0|0	KIFC2|KIFC2	145664838|145664838	0.981000|0.981000	0.34729|0.34729	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	1.859000|1.859000	0.39418|0.39418	2.240000|2.240000	0.73641|0.73641	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.652	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		9	29	0	0	0	0.047766	0	9	29				
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	lincRNA	SNP	C	C	T	rs199960649		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr1:142713944C>T	ENST00000610091.1	-	0	1714																											TGATTACCTCCGAAGTTAAAG	0.308																																						ENST00000369381.2																			0																																																			0							g.chr1:142713944C>T																													1.37:g.142713944C>T														0	661	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.308	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	20	0	0	0	0.009096	0	3	20				
KIAA1217	56243	broad.mit.edu	37	10	24669943	24669943	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr10:24669943G>A	ENST00000376454.3	+	3	530	c.500G>A	c.(499-501)cGt>cAt	p.R167H	KIAA1217_ENST00000376462.1_Missense_Mutation_p.R87H|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R167H|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R167H|KIAA1217_ENST00000430453.2_Missense_Mutation_p.R88H	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	167					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGCCGGACTCGTGCGAGCCTT	0.532																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(499-501)cGt>cAt		KIAA1217							54.0	55.0	55.0					10																	24669943		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24669943G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.500G>A	10.37:g.24669943G>A	ENSP00000365637:p.Arg167His					KIAA1217_ENST00000376452.3_Missense_Mutation_p.R167H|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R167H|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R87H|KIAA1217_ENST00000430453.2_Missense_Mutation_p.R88H	p.R167H	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			3	530	+			167					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.500G>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316615	0.95682	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453	T;D;T;T;T;T;T	0.94758	-0.15;-3.51;-0.15;-0.15;-0.15;-0.15;-0.15	5.54	5.54	0.83059	.	0.120225	0.56097	D	0.000028	D	0.97405	0.9151	M	0.80183	2.485	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.996;0.999	D	0.97805	1.0247	10	0.87932	D	0	.	19.4705	0.94961	0.0:0.0:1.0:0.0	.	167;167;167;167	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	H	87;167;167;167;167;17;88	ENSP00000365645:R87H;ENSP00000365639:R167H;ENSP00000392625:R167H;ENSP00000365637:R167H;ENSP00000365635:R167H;ENSP00000404798:R17H;ENSP00000389680:R88H	ENSP00000365635:R167H	R	+	2	0	KIAA1217	24709949	1.000000	0.71417	0.755000	0.31263	0.981000	0.71138	9.452000	0.97615	2.616000	0.88540	0.591000	0.81541	CGT		0.532	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		10	31	0	0	0	0.058154	0	10	31				
APOB	338	broad.mit.edu	37	2	21230714	21230714	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:21230714A>T	ENST00000233242.1	-	26	9153	c.9026T>A	c.(9025-9027)cTg>cAg	p.L3009Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3009					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.F3010fs*15(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCCAAACAGTGCCATGCC	0.418																																						ENST00000233242.1																			1	Deletion - Frameshift(1)	p.F3010fs*15(1)	breast(1)	NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(9025-9027)cTg>cAg		apolipoprotein B	Atorvastatin(DB01076)						69.0	73.0	72.0					2																	21230714		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230714A>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9026T>A	2.37:g.21230714A>T	ENSP00000233242:p.Leu3009Gln						p.L3009Q	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	9153	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3009					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.9026T>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	0.856	-0.736902	0.03111	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00659	5.94	5.87	3.44	0.39384	.	0.305250	0.23731	N	0.045121	T	0.00754	0.0025	L	0.43923	1.385	0.09310	N	0.999992	B	0.22276	0.067	B	0.15870	0.014	T	0.47394	-0.9121	10	0.15952	T	0.53	.	5.9656	0.19322	0.5439:0.0:0.0739:0.3822	.	3009	P04114	APOB_HUMAN	Q	3009	ENSP00000233242:L3009Q	ENSP00000233242:L3009Q	L	-	2	0	APOB	21084219	0.011000	0.17503	0.002000	0.10522	0.035000	0.12851	2.225000	0.42954	1.016000	0.39470	0.533000	0.62120	CTG		0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			12	50	0	0	0	0.080935	0	12	50				
ULK4	54986	broad.mit.edu	37	3	41953050	41953050	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:41953050C>T	ENST00000301831.4	-	10	1460	c.998G>A	c.(997-999)gGt>gAt	p.G333D	ULK4_ENST00000420927.1_Missense_Mutation_p.G333D	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	333					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GAAAGAGTGACCTAGTGGTTG	0.408																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(997-999)gGt>gAt		unc-51 like kinase 4							146.0	135.0	139.0					3																	41953050		1886	4103	5989	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41953050C>T	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.998G>A	3.37:g.41953050C>T	ENSP00000301831:p.Gly333Asp					ULK4_ENST00000420927.1_Missense_Mutation_p.G333D	p.G333D	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	10	1460	-			333					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.998G>A	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	2.415	-0.334502	0.05278	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.65364	0.68;-0.15	5.08	1.84	0.25277	.	0.772455	0.13086	N	0.414946	T	0.39064	0.1064	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.21999	-1.0229	10	0.08381	T	0.77	.	5.2285	0.15408	0.0:0.5173:0.0:0.4827	.	333;333	B4E2M4;Q96C45	.;ULK4_HUMAN	D	333	ENSP00000301831:G333D;ENSP00000412187:G333D	ENSP00000301831:G333D	G	-	2	0	ULK4	41928054	0.250000	0.23951	0.001000	0.08648	0.207000	0.24258	0.436000	0.21526	0.553000	0.29044	0.555000	0.69702	GGT		0.408	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		10	100	0	0	0	0.069234	0	10	100				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			29	44	0	0	0	0.059317	0	29	44				
E4F1	1877	broad.mit.edu	37	16	2279638	2279638	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr16:2279638C>T	ENST00000301727.4	+	3	425	c.377C>T	c.(376-378)tCt>tTt	p.S126F	E4F1_ENST00000565090.1_Missense_Mutation_p.S126F|E4F1_ENST00000564139.1_Missense_Mutation_p.S126F	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	126					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						GAGGCGGCCTCTCTGGCAGCA	0.617																																						ENST00000301727.4																			0				ovary(1)	1						c.(376-378)tCt>tTt		E4F transcription factor 1							92.0	95.0	94.0					16																	2279638		2197	4300	6497	SO:0001583	missense	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2279638C>T	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.377C>T	16.37:g.2279638C>T	ENSP00000301727:p.Ser126Phe					E4F1_ENST00000564139.1_Missense_Mutation_p.S126F|E4F1_ENST00000565090.1_Missense_Mutation_p.S126F	p.S126F	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			3	425	+			126					A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.377C>T	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	C	5.045	0.194052	0.09599	.	.	ENSG00000167967	ENST00000301727	T	0.07567	3.18	4.14	4.14	0.48551	.	0.627020	0.16507	N	0.211385	T	0.13200	0.0320	L	0.40543	1.245	0.25926	N	0.983057	P;P;P	0.51351	0.944;0.8;0.612	P;P;B	0.50490	0.642;0.467;0.259	T	0.04347	-1.0958	10	0.52906	T	0.07	-4.2603	13.2836	0.60230	0.0:1.0:0.0:0.0	.	122;126;126	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	F	126	ENSP00000301727:S126F	ENSP00000301727:S126F	S	+	2	0	E4F1	2219639	0.860000	0.29831	0.077000	0.20336	0.870000	0.49936	3.300000	0.51834	2.150000	0.67090	0.561000	0.74099	TCT		0.617	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		40	97	0	0	0	0.080422	0	40	97				
N4BP3	23138	broad.mit.edu	37	5	177547253	177547253	+	Silent	SNP	G	G	A	rs377627701		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:177547253G>A	ENST00000274605.5	+	3	764	c.405G>A	c.(403-405)gcG>gcA	p.A135A		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	135						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGTCTGGCGTCCCACAAAG	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		13875	0.0		0.0	False		,,,				2504	0.001					ENST00000274605.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(403-405)gcG>gcA		NEDD4 binding protein 3		G		0,4406		0,0,2203	38.0	39.0	39.0		405	-10.0	0.1	5		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	N4BP3	NM_015111.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		135/545	177547253	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23138					cytoplasmic vesicle membrane		g.chr5:177547253G>A	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.405G>A	5.37:g.177547253G>A							p.A135A	NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	764	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	135					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Silent	SNP	ENST00000274605.5	37	c.405G>A	CCDS34307.1																																																																																				0.682	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		23	24	0	0	0	0.076483	0	23	24				
DCAF8L1	139425	broad.mit.edu	37	X	27998600	27998600	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:27998600C>A	ENST00000441525.1	-	1	966	c.852G>T	c.(850-852)aaG>aaT	p.K284N		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	284										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GTCCCCTGTGCTTGGCCACAC	0.517																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(850-852)aaG>aaT		DDB1 and CUL4 associated factor 8-like 1							87.0	75.0	79.0					X																	27998600		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998600C>A		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.852G>T	X.37:g.27998600C>A	ENSP00000405222:p.Lys284Asn						p.K284N	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	966	-			284					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.852G>T	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	8.329	0.825980	0.16749	.	.	ENSG00000226372	ENST00000441525	T	0.80994	-1.44	0.842	-0.268	0.12934	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.135320	0.50627	D	0.000102	T	0.65112	0.2660	L	0.35542	1.07	0.31817	N	0.626465	B	0.13145	0.007	B	0.12156	0.007	T	0.55335	-0.8157	10	0.45353	T	0.12	-4.443	5.0986	0.14747	0.0:0.7401:0.0:0.2599	.	284	A6NGE4	DC8L1_HUMAN	N	284	ENSP00000405222:K284N	ENSP00000405222:K284N	K	-	3	2	DCAF8L1	27908521	1.000000	0.71417	0.048000	0.18961	0.050000	0.14768	0.908000	0.28545	-0.168000	0.10853	0.284000	0.19432	AAG		0.517	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		15	60	1	0	1.02788e-11	0.033300	1.08835e-11	15	60				
GPR116	221395	broad.mit.edu	37	6	46830657	46830657	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr6:46830657C>T	ENST00000283296.7	-	15	2455	c.2167G>A	c.(2167-2169)Gcc>Acc	p.A723T	GPR116_ENST00000545669.1_Missense_Mutation_p.A152T|GPR116_ENST00000456426.2_Missense_Mutation_p.A581T|GPR116_ENST00000362015.4_Missense_Mutation_p.A723T|GPR116_ENST00000265417.7_Missense_Mutation_p.A723T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	723					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTATTGGGGCAGAGATGCAG	0.512																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2167-2169)Gcc>Acc		G protein-coupled receptor 116							207.0	201.0	203.0					6																	46830657		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46830657C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2167G>A	6.37:g.46830657C>T	ENSP00000283296:p.Ala723Thr					GPR116_ENST00000362015.4_Missense_Mutation_p.A723T|GPR116_ENST00000456426.2_Missense_Mutation_p.A581T|GPR116_ENST00000265417.7_Missense_Mutation_p.A723T|GPR116_ENST00000545669.1_Missense_Mutation_p.A152T	p.A723T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		15	2455	-			723					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.2167G>A	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948256	0.34377	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.27256	1.71;2.09;1.73;1.71;1.68	5.09	5.09	0.68999	.	0.108147	0.41294	D	0.000920	T	0.28200	0.0696	M	0.72118	2.19	0.32042	N	0.598122	P;B;D;B;D	0.58620	0.473;0.149;0.983;0.34;0.983	B;B;P;B;P	0.55011	0.208;0.053;0.766;0.113;0.766	T	0.11179	-1.0598	10	0.17369	T	0.5	-26.0578	15.6047	0.76658	0.0:1.0:0.0:0.0	.	152;278;723;581;723	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	T	723;723;723;581;94;723;152	ENSP00000283296:A723T;ENSP00000354563:A723T;ENSP00000412866:A581T;ENSP00000265417:A723T;ENSP00000441581:A152T	ENSP00000265417:A723T	A	-	1	0	GPR116	46938616	0.001000	0.12720	0.985000	0.45067	0.011000	0.07611	0.853000	0.27777	2.537000	0.85549	0.655000	0.94253	GCC		0.512	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		43	132	0	0	0	0.111260	0	43	132				
PGAM2	5224	broad.mit.edu	37	7	44102503	44102503	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr7:44102503G>C	ENST00000297283.3	-	3	679	c.622C>G	c.(622-624)Ctg>Gtg	p.L208V	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	208					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						GGCAGGTTCAGCTCCATGATC	0.557																																						ENST00000297283.3																			0				large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						c.(622-624)Ctg>Gtg		phosphoglycerate mutase 2 (muscle)							145.0	117.0	127.0					7																	44102503		2203	4300	6503	SO:0001583	missense	5224				gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity	g.chr7:44102503G>C		CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.622C>G	7.37:g.44102503G>C	ENSP00000297283:p.Leu208Val						p.L208V	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN			3	679	-			208						Missense_Mutation	SNP	ENST00000297283.3	37	c.622C>G	CCDS34624.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578567	0.46006	.	.	ENSG00000164708	ENST00000297283	D	0.81908	-1.55	4.82	3.94	0.45596	.	0.000000	0.64402	D	0.000001	T	0.82089	0.4961	M	0.80746	2.51	0.58432	D	0.999999	B	0.23591	0.088	B	0.21360	0.034	T	0.79647	-0.1716	10	0.46703	T	0.11	-22.6509	11.0571	0.47925	0.0922:0.0:0.9077:0.0	.	208	P15259	PGAM2_HUMAN	V	208	ENSP00000297283:L208V	ENSP00000297283:L208V	L	-	1	2	PGAM2	44069028	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.679000	0.74513	1.187000	0.43000	0.456000	0.33151	CTG		0.557	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339614.1			8	44	0	0	0	0.047766	0	8	44				
ZBED1	9189	broad.mit.edu	37	X	2407265	2407265	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:2407265T>A	ENST00000381223.4	-	2	1699	c.1496A>T	c.(1495-1497)gAa>gTa	p.E499V	ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_Missense_Mutation_p.E499V|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.E499V	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	499					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTTGGCCTCTTCCACCACGCG	0.637																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1495-1497)gAa>gTa		zinc finger, BED-type containing 1							77.0	82.0	80.0					X																	2407265		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407265T>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1496A>T	X.37:g.2407265T>A	ENSP00000370621:p.Glu499Val					ZBED1_ENST00000381222.2_Missense_Mutation_p.E499V|ZBED1_ENST00000381218.3_Missense_Mutation_p.E499V|DHRSX_ENST00000334651.5_Intron	p.E499V	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	1699	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	499					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.1496A>T	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	T	7.523	0.657033	0.14580	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.23147	1.92;1.92;1.92	3.06	3.06	0.35304	Ribonuclease H-like (1);	0.366169	0.21304	N	0.076749	T	0.33089	0.0851	.	.	.	0.09310	N	1	D	0.64830	0.994	P	0.53988	0.739	T	0.07829	-1.0752	9	0.36615	T	0.2	-16.315	10.7645	0.46286	0.0:0.0:0.0:1.0	.	499	O96006	ZBED1_HUMAN	V	499	ENSP00000370621:E499V;ENSP00000370620:E499V;ENSP00000370616:E499V	ENSP00000370616:E499V	E	-	2	0	ZBED1	2417265	1.000000	0.71417	0.024000	0.17045	0.119000	0.20118	3.611000	0.54132	0.943000	0.37553	0.422000	0.28245	GAA		0.637	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		47	49	0	0	0	0.048971	0	47	49				
RGAG1	57529	broad.mit.edu	37	X	109696415	109696415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:109696415G>A	ENST00000465301.2	+	3	2816	c.2570G>A	c.(2569-2571)gGg>gAg	p.G857E	RGAG1_ENST00000540313.1_Missense_Mutation_p.G857E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	857										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCCTCTGGAGGGATGTCCATG	0.527																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(2569-2571)gGg>gAg		retrotransposon gag domain containing 1							174.0	161.0	165.0					X																	109696415		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109696415G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2570G>A	X.37:g.109696415G>A	ENSP00000419786:p.Gly857Glu					RGAG1_ENST00000540313.1_Missense_Mutation_p.G857E	p.G857E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	2816	+			857					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.2570G>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639695	0.29157	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.48522	0.81;0.81	3.98	-1.99	0.07457	.	1.035980	0.07737	N	0.946229	T	0.43233	0.1238	L	0.44542	1.39	0.09310	N	0.999991	P	0.48016	0.904	P	0.48227	0.571	T	0.39418	-0.9615	9	.	.	.	0.749	6.6959	0.23199	0.0:0.378:0.2109:0.4111	.	857	Q8NET4	RGAG1_HUMAN	E	857	ENSP00000419786:G857E;ENSP00000441452:G857E	.	G	+	2	0	RGAG1	109583071	0.002000	0.14202	0.032000	0.17829	0.720000	0.41350	-3.069000	0.00619	-0.572000	0.06006	0.466000	0.42574	GGG		0.527	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		96	143	0	0	0	0.048971	0	96	143				
ACTL9	284382	broad.mit.edu	37	19	8808420	8808420	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:8808420C>T	ENST00000324436.3	-	1	752	c.632G>A	c.(631-633)gGc>gAc	p.G211D		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	211						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGGTTGTAGCCCTGGAAGAC	0.682																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(631-633)gGc>gAc		actin-like 9							49.0	46.0	47.0					19																	8808420		2203	4300	6503	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808420C>T		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.632G>A	19.37:g.8808420C>T	ENSP00000316674:p.Gly211Asp						p.G211D	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	752	-			211					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.632G>A	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471868	0.84533	.	.	ENSG00000181786	ENST00000324436	D	0.97430	-4.38	4.37	3.33	0.38152	.	0.000000	0.47093	D	0.000254	D	0.97829	0.9287	M	0.92367	3.3	0.51767	D	0.999932	P	0.36974	0.576	P	0.46452	0.517	D	0.98543	1.0633	10	0.87932	D	0	.	11.4261	0.50012	0.0:0.9098:0.0:0.0902	.	211	Q8TC94	ACTL9_HUMAN	D	211	ENSP00000316674:G211D	ENSP00000316674:G211D	G	-	2	0	ACTL9	8669420	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.435000	0.66532	1.208000	0.43306	0.462000	0.41574	GGC		0.682	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		24	22	0	0	0	0.034045	0	24	22				
SPDL1	54908	broad.mit.edu	37	5	169026067	169026067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:169026067C>T	ENST00000265295.4	+	10	1507	c.1228C>T	c.(1228-1230)Ctt>Ttt	p.L410F		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		TGAGCGAAAACTTTTTGCAAA	0.353																																						ENST00000265295.4																			0											c.(1228-1230)Ctt>Ttt		spindle apparatus coiled-coil protein 1							50.0	52.0	51.0					5																	169026067		2203	4300	6503	SO:0001583	missense	54908							g.chr5:169026067C>T	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1228C>T	5.37:g.169026067C>T	ENSP00000265295:p.Leu410Phe						p.L410F	NM_017785.4	NP_060255.3					10	1507	+									Missense_Mutation	SNP	ENST00000265295.4	37	c.1228C>T	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688881	0.88639	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.65178	-0.14	5.96	5.1	0.69264	.	0.120941	0.56097	D	0.000024	T	0.78130	0.4235	M	0.71581	2.175	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.80861	-0.1193	10	0.72032	D	0.01	-3.6355	15.1353	0.72558	0.0:0.9325:0.0:0.0675	.	332;311;410	B4E393;Q96EA4-2;Q96EA4	.;.;SPDLY_HUMAN	F	410;311	ENSP00000265295:L410F	ENSP00000265295:L410F	L	+	1	0	CCDC99	168958645	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.908000	0.63307	1.535000	0.49220	0.655000	0.94253	CTT		0.353	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		5	56	0	0	0	0.014758	0	5	56				
CCDC113	29070	broad.mit.edu	37	16	58292428	58292428	+	Splice_Site	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr16:58292428G>A	ENST00000219299.4	+	4	625		c.e4+1		CCDC113_ENST00000443128.2_Splice_Site	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113							cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						CCGCCGGAGGGTAAGTTGGCA	0.418																																						ENST00000219299.4																			0				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						c.e4+1		coiled-coil domain containing 113							58.0	56.0	57.0					16																	58292428		2198	4300	6498	SO:0001630	splice_region_variant	29070					protein complex		g.chr16:58292428G>A	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.546+1G>A	16.37:g.58292428G>A						CCDC113_ENST00000443128.2_Splice_Site		NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN			4	625	+								B2RAQ7|B4DR20|Q9NZX2	Splice_Site	SNP	ENST00000219299.4	37		CCDS10795.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177492	0.57692	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3633	0.83280	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC113	56849929	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	4.404000	0.59735	2.525000	0.85131	0.655000	0.94253	.		0.418	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157	Intron	17	24	0	0	0	0.028581	0	17	24				
EDDM3B	64184	broad.mit.edu	37	14	21238446	21238446	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr14:21238446G>C	ENST00000326783.3	+	2	235	c.137G>C	c.(136-138)aGa>aCa	p.R46T		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	46						extracellular region (GO:0005576)		p.R46I(1)		central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CGAGAATTCAGAGAGTACAAA	0.393																																						ENST00000326783.3																			1	Substitution - Missense(1)	p.R46I(1)	central_nervous_system(1)	central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						c.(136-138)aGa>aCa		epididymal protein 3B							103.0	99.0	101.0					14																	21238446		2203	4300	6503	SO:0001583	missense	64184				spermatid development	extracellular region		g.chr14:21238446G>C	X76386	CCDS9557.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181552	ENSG00000181552			19223	protein-coding gene	gene with protein product		611582	"""family with sequence similarity 12, member B (epididymal)"""	FAM12B		7514008	Standard	NM_022360		Approved	HE3-BETA	uc001vyd.3	P56851	OTTHUMG00000029583	ENST00000326783.3:c.137G>C	14.37:g.21238446G>C	ENSP00000314810:p.Arg46Thr						p.R46T	NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN			2	235	+			46					A0PK89	Missense_Mutation	SNP	ENST00000326783.3	37	c.137G>C	CCDS9557.1	.	.	.	.	.	.	.	.	.	.	g	2.401	-0.337579	0.05278	.	.	ENSG00000181552	ENST00000326783	T	0.72394	-0.65	4.05	-4.31	0.03698	Ribonuclease A, domain (3);	1.532860	0.03790	N	0.262668	T	0.46795	0.1411	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26677	-1.0096	10	0.34782	T	0.22	.	5.9659	0.19325	0.4364:0.0:0.439:0.1246	.	46	P56851	EP3B_HUMAN	T	46	ENSP00000314810:R46T	ENSP00000314810:R46T	R	+	2	0	EDDM3B	20308286	0.000000	0.05858	0.000000	0.03702	0.167000	0.22549	-1.215000	0.02985	-0.964000	0.03595	-1.439000	0.01073	AGA		0.393	EDDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073745.2			24	82	0	0	0	0.083992	0	24	82				
GALNTL5	168391	broad.mit.edu	37	7	151711757	151711757	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr7:151711757T>A	ENST00000392800.2	+	8	1309	c.1055T>A	c.(1054-1056)aTa>aAa	p.I352K	GALNTL5_ENST00000431418.2_Missense_Mutation_p.I352K	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	352	Catalytic subdomain B.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CAACTCTTTATAATCCCCTGC	0.393																																						ENST00000392800.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(1054-1056)aTa>aAa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							138.0	124.0	129.0					7																	151711757		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151711757T>A	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1055T>A	7.37:g.151711757T>A	ENSP00000376548:p.Ile352Lys					GALNTL5_ENST00000431418.2_Missense_Mutation_p.I352K	p.I352K	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	8	1309	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	352			Catalytic subdomain B.		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.1055T>A	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	T	19.93	3.918101	0.73098	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.66995	-0.24;-0.24	3.73	3.73	0.42828	.	0.366998	0.20002	N	0.101317	D	0.84848	0.5563	H	0.95224	3.64	0.58432	D	0.999999	D;P	0.71674	0.998;0.952	D;P	0.71656	0.974;0.694	D	0.87298	0.2303	10	0.87932	D	0	.	9.9236	0.41478	0.0:0.0:0.0:1.0	.	103;352	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	K	352	ENSP00000392582:I352K;ENSP00000376548:I352K	ENSP00000376548:I352K	I	+	2	0	GALNTL5	151342690	1.000000	0.71417	0.384000	0.26145	0.984000	0.73092	6.519000	0.73768	1.571000	0.49722	0.402000	0.26972	ATA		0.393	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		44	64	0	0	0	0.048971	0	44	64				
WAS	7454	broad.mit.edu	37	X	48542340	48542340	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:48542340A>G	ENST00000376701.4	+	1	173	c.98A>G	c.(97-99)cAg>cGg	p.Q33R	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	33					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CACGAGAACCAGCGACTCTTT	0.622			"""Mis, N, F, S"""			lymphoma																																ENST00000376701.4				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	"""Mis, N, F, S"""	Wiskott-Aldrich syndrome			L		lymphoma			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(97-99)cAg>cGg		Wiskott-Aldrich syndrome							111.0	88.0	96.0					X																	48542340		2203	4300	6503	SO:0001583	missense	7454				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48542340A>G	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.98A>G	X.37:g.48542340A>G	ENSP00000365891:p.Gln33Arg					WAS_ENST00000483750.1_3'UTR	p.Q33R	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN			1	173	+		all_lung(315;1.27e-10)	33					Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	c.98A>G	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.757079	0.49468	.	.	ENSG00000015285	ENST00000450772;ENST00000376701	D;D	0.99704	-6.22;-6.46	4.27	4.27	0.50696	Pleckstrin homology-type (1);	0.064337	0.64402	D	0.000009	D	0.97371	0.9140	N	0.08118	0	0.29754	N	0.836064	B	0.29862	0.259	B	0.24394	0.053	D	0.97672	1.0167	10	0.72032	D	0.01	-9.7816	9.0118	0.36146	1.0:0.0:0.0:0.0	.	33	P42768	WASP_HUMAN	R	33	ENSP00000410537:Q33R;ENSP00000365891:Q33R	ENSP00000365891:Q33R	Q	+	2	0	WAS	48427284	1.000000	0.71417	0.985000	0.45067	0.808000	0.45660	5.647000	0.67923	1.380000	0.46344	0.231000	0.17811	CAG		0.622	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		9	63	0	0	0	0.058154	0	9	63				
FCRL3	115352	broad.mit.edu	37	1	157667654	157667654	+	Silent	SNP	C	C	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr1:157667654C>A	ENST00000368184.3	-	5	645	c.354G>T	c.(352-354)ctG>ctT	p.L118L	FCRL3_ENST00000368186.5_Silent_p.L118L|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	118	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCTGACATCTCAGAATGACAT	0.423																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(352-354)ctG>ctT		Fc receptor-like 3							113.0	104.0	107.0					1																	157667654		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157667654C>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.354G>T	1.37:g.157667654C>A						FCRL3_ENST00000368186.5_Silent_p.L118L|FCRL3_ENST00000473231.1_5'UTR	p.L118L	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			5	645	-	all_hematologic(112;0.0378)		118			Ig-like C2-type 2.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.354G>T	CCDS1167.1																																																																																				0.423	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		3	86	1	0	6.4e-05	0.004672	6.67826e-05	3	86				
BAGE2	85319	broad.mit.edu	37	21	11058337	11058337	+	RNA	SNP	A	A	G			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr21:11058337A>G	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAAGGGGTAAAGGAGAGAAAT	0.368																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							55.0	43.0	47.0					21																	11058337		692	1591	2283			85319							g.chr21:11058337A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058337A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.368	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	125	0	0	0	0.021553	0	5	125				
LMOD2	442721	broad.mit.edu	37	7	123302491	123302491	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr7:123302491G>A	ENST00000458573.2	+	2	1008	c.851G>A	c.(850-852)gGg>gAg	p.G284E	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	284						cytoskeleton (GO:0005856)											ACGGGAAAGGGGATCCTGGCC	0.542																																						ENST00000458573.2																			0											c.(850-852)gGg>gAg		leiomodin 2 (cardiac)							94.0	93.0	93.0					7																	123302491		2144	4247	6391	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302491G>A	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.851G>A	7.37:g.123302491G>A	ENSP00000411932:p.Gly284Glu					LMOD2_ENST00000456238.2_Intron	p.G284E	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			2	1008	+			284					A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.851G>A	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947867	0.92593	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.92911	-3.13	5.35	5.35	0.76521	.	.	.	.	.	D	0.97176	0.9077	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97720	1.0196	9	0.72032	D	0.01	-14.2314	19.4255	0.94740	0.0:0.0:1.0:0.0	.	284	Q6P5Q4	LMOD2_HUMAN	E	284;244;255	ENSP00000411932:G284E	ENSP00000405123:G255E	G	+	2	0	LMOD2	123089727	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.813000	0.99286	2.648000	0.89879	0.591000	0.81541	GGG		0.542	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			7	90	0	0	0	0.038147	0	7	90				
ABCA6	23460	broad.mit.edu	37	17	67080415	67080415	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr17:67080415G>C	ENST00000284425.2	-	34	4516	c.4342C>G	c.(4342-4344)Cag>Gag	p.Q1448E	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1448	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATTTGCTGCTGCCCTGTGGGG	0.483																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(4342-4344)Cag>Gag		ATP-binding cassette, sub-family A (ABC1), member 6							87.0	83.0	84.0					17																	67080415		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67080415G>C	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4342C>G	17.37:g.67080415G>C	ENSP00000284425:p.Gln1448Glu					ABCA6_ENST00000446604.2_5'UTR	p.Q1448E	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			34	4516	-	Breast(10;5.65e-12)		1448			ABC transporter 2.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.4342C>G	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829037	0.50845	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.95307	-3.67	5.04	4.05	0.47172	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.285016	0.24810	N	0.035414	D	0.92773	0.7702	L	0.33245	0.995	0.80722	D	1	P	0.46706	0.883	P	0.49853	0.624	D	0.92936	0.6368	10	0.72032	D	0.01	.	13.0075	0.58715	0.0:0.0:0.7002:0.2998	.	1448	Q8N139	ABCA6_HUMAN	E	1448;308	ENSP00000284425:Q1448E	ENSP00000284425:Q1448E	Q	-	1	0	ABCA6	64592010	0.858000	0.29795	0.350000	0.25708	0.732000	0.41865	1.343000	0.33930	1.289000	0.44618	0.561000	0.74099	CAG		0.483	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		3	49	0	0	0	0.004672	0	3	49				
C10orf91	170393	broad.mit.edu	37	10	134259250	134259250	+	Missense_Mutation	SNP	C	C	T	rs112176383	byFrequency	TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr10:134259250C>T	ENST00000392630.3	+	2	141	c.80C>T	c.(79-81)aCg>aTg	p.T27M	C10orf91_ENST00000321248.2_Missense_Mutation_p.T27M|C10orf91_ENST00000490765.1_3'UTR	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	27										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		GCTTGCTGGACGCATGACCAG	0.607													c|||	2	0.000399361	0.0	0.0	5008	,	,		18398	0.0		0.001	False		,,,				2504	0.001					ENST00000392630.3																			0				endometrium(1)|kidney(1)|lung(1)|ovary(2)	5						c.(79-81)aCg>aTg		chromosome 10 open reading frame 91			MET/THR	0,4406		0,0,2203	163.0	146.0	152.0		80	-1.4	0.0	10	dbSNP_132	152	1,8599	1.2+/-3.3	0,1,4299	no	missense	C10orf91	NM_173541.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	27/146	134259250	1,13005	2203	4300	6503	SO:0001583	missense	170393							g.chr10:134259250C>T	BC030794	CCDS7668.1	10q26.3	2004-03-16			ENSG00000180066	ENSG00000180066			27275	protein-coding gene	gene with protein product						12477932	Standard	NM_173541		Approved	bA432J24.4	uc001llm.3	Q5T1B1	OTTHUMG00000019289	ENST00000392630.3:c.80C>T	10.37:g.134259250C>T	ENSP00000376407:p.Thr27Met					C10orf91_ENST00000321248.2_Missense_Mutation_p.T27M|C10orf91_ENST00000490765.1_3'UTR	p.T27M	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)	2	141	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	27					Q8N0T7	Missense_Mutation	SNP	ENST00000392630.3	37	c.80C>T	CCDS7668.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	5.354	0.250598	0.10130	0.0	1.16E-4	ENSG00000180066	ENST00000392630;ENST00000321248	T;T	0.07021	3.23;3.23	0.817	-1.42	0.08913	.	.	.	.	.	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	P	0.48089	0.566	T	0.31752	-0.9932	9	0.87932	D	0	.	4.0222	0.09670	0.0:0.4806:0.0:0.5194	.	27	Q5T1B1	CJ091_HUMAN	M	27	ENSP00000376407:T27M;ENSP00000323241:T27M	ENSP00000323241:T27M	T	+	2	0	C10orf91	134109240	0.001000	0.12720	0.000000	0.03702	0.116000	0.19942	-0.960000	0.03849	-0.636000	0.05524	0.306000	0.20318	ACG		0.607	C10orf91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051078.2	NM_173541		40	57	0	0	0	0.045515	0	40	57				
DNAH10	196385	broad.mit.edu	37	12	124408866	124408866	+	Missense_Mutation	SNP	G	G	A	rs183103487		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr12:124408866G>A	ENST00000409039.3	+	66	11324	c.11299G>A	c.(11299-11301)Gct>Act	p.A3767T	CCDC92_ENST00000544798.1_Intron|RP11-380L11.4_ENST00000602952.1_RNA	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3767					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAGCCCTGCGCTTGGTTGTC	0.403																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(11299-11301)Gct>Act		dynein, axonemal, heavy chain 10		G	THR/ALA	2,3672		0,2,1835	71.0	71.0	71.0		11299	-8.6	0.0	12		71	1,8209		0,1,4104	no	missense	DNAH10	NM_207437.3	58	0,3,5939	AA,AG,GG		0.0122,0.0544,0.0252	benign	3767/4472	124408866	3,11881	1837	4105	5942	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124408866G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11299G>A	12.37:g.124408866G>A	ENSP00000386770:p.Ala3767Thr					CCDC92_ENST00000544798.1_Intron	p.A3767T	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	66	11324	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3767					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.11299G>A	CCDS9255.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.301	-0.360280	0.05103	5.44E-4	1.22E-4	ENSG00000197653	ENST00000409039	T	0.08102	3.13	4.96	-8.63	0.00878	Dynein heavy chain (1);	0.581717	0.15894	N	0.239420	T	0.01800	0.0057	N	0.02973	-0.45	0.09310	N	0.999996	B	0.10296	0.003	B	0.10450	0.005	T	0.33650	-0.9860	10	0.18276	T	0.48	.	1.7376	0.02945	0.4471:0.1488:0.2352:0.1689	.	3767	Q8IVF4	DYH10_HUMAN	T	3767	ENSP00000386770:A3767T	ENSP00000386770:A3767T	A	+	1	0	DNAH10	122974819	0.000000	0.05858	0.004000	0.12327	0.053000	0.15095	-1.271000	0.02828	-1.189000	0.02702	-1.036000	0.02392	GCT		0.403	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			14	21	0	0	0	0.024245	0	14	21				
TACC1	6867	broad.mit.edu	37	8	38681524	38681524	+	Intron	SNP	A	A	G			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr8:38681524A>G	ENST00000317827.4	+	4	1770				TACC1_ENST00000330691.6_Missense_Mutation_p.K32E|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000519416.1_Intron|TACC1_ENST00000520340.1_Intron|TACC1_ENST00000443286.2_Intron|TACC1_ENST00000518415.1_Intron|TACC1_ENST00000379931.3_Missense_Mutation_p.K470E|TACC1_ENST00000520611.1_Intron|TACC1_ENST00000520973.1_Intron|TACC1_ENST00000520615.1_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000348567.4_Intron	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1						cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGAACAAGTGAAATTTCTCTG	0.433																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(1408-1410)Aaa>Gaa		transforming, acidic coiled-coil containing protein 1							161.0	164.0	163.0					8																	38681524		876	1991	2867	SO:0001627	intron_variant	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38681524A>G	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1392-1302A>G	8.37:g.38681524A>G						TACC1_ENST00000519416.1_Intron|TACC1_ENST00000520340.1_Intron|TACC1_ENST00000330691.6_Missense_Mutation_p.K32E|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_Intron|TACC1_ENST00000520615.1_Intron|TACC1_ENST00000520611.1_Intron|TACC1_ENST00000518415.1_Intron|TACC1_ENST00000317827.4_Intron|TACC1_ENST00000443286.2_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000276520.8_Intron	p.K470E			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		4	1787	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	464			SPAZ 2.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	c.1408A>G	CCDS6109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.95|14.95	2.688357|2.688357	0.48097|0.48097	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000521050;ENST00000330691;ENST00000379931|ENST00000521866;ENST00000518809	T;T|.	0.48522|.	0.81;2.98|.	5.71|5.71	4.53|4.53	0.55603|0.55603	.|.	0.000000|.	0.43110|.	D|.	0.000617|.	T|.	0.40815|.	0.1132|.	.|.	.|.	.|.	0.22305|0.22305	N|N	0.99922|0.99922	D;D|.	0.69078|.	0.997;0.993|.	P;P|.	0.60789|.	0.84;0.879|.	T|.	0.22452|.	-1.0216|.	9|.	0.45353|.	T|.	0.12|.	-7.4162|-7.4162	11.6452|11.6452	0.51257|0.51257	0.8517:0.1483:0.0:0.0|0.8517:0.1483:0.0:0.0	.|.	470;32|.	O75410-2;O75410-4|.	.;.|.	E|W	32;32;470|244;107	ENSP00000332794:K32E;ENSP00000369263:K470E|.	ENSP00000332794:K32E|.	K|X	+|+	1|3	0|0	TACC1|TACC1	38800681|38800681	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.004000|2.004000	0.40854|0.40854	0.952000|0.952000	0.37798|0.37798	0.533000|0.533000	0.62120|0.62120	AAA|TGA		0.433	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		37	79	0	0	0	0.086207	0	37	79				
CBLB	868	broad.mit.edu	37	3	105495351	105495351	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:105495351T>A	ENST00000264122.4	-	4	776	c.455A>T	c.(454-456)cAc>cTc	p.H152L	CBLB_ENST00000403724.1_Missense_Mutation_p.H152L|CBLB_ENST00000545639.1_Intron|CBLB_ENST00000405772.1_Missense_Mutation_p.H152L|CBLB_ENST00000394027.3_Missense_Mutation_p.H174L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	152	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGCCAGCATGTGACTGAAGAT	0.378			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(454-456)cAc>cTc		Cbl proto-oncogene B, E3 ubiquitin protein ligase							121.0	117.0	119.0					3																	105495351		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105495351T>A	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.455A>T	3.37:g.105495351T>A	ENSP00000264122:p.His152Leu					CBLB_ENST00000403724.1_Missense_Mutation_p.H152L|CBLB_ENST00000394027.3_Missense_Mutation_p.H174L|CBLB_ENST00000545639.1_Intron|CBLB_ENST00000405772.1_Missense_Mutation_p.H152L	p.H152L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			4	776	-			152			4H.|Cbl-PTB.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.455A>T	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.962813	0.92791	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.79	5.79	0.91817	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.000000	0.85682	D	0.000000	D	0.91798	0.7405	M	0.71871	2.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.997;1.0	D	0.92629	0.6114	10	0.87932	D	0	-17.3059	16.1163	0.81306	0.0:0.0:0.0:1.0	.	174;152;152	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	L	152;174;152;152	ENSP00000264122:H152L;ENSP00000377595:H174L;ENSP00000384816:H152L;ENSP00000384938:H152L	ENSP00000264122:H152L	H	-	2	0	CBLB	106978041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.216000	0.71823	0.455000	0.32223	CAC		0.378	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		15	95	0	0	0	0.028581	0	15	95				
ITIH6	347365	broad.mit.edu	37	X	54777700	54777700	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:54777700T>C	ENST00000218436.6	-	12	3495	c.3466A>G	c.(3466-3468)Act>Gct	p.T1156A		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1156					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										ATGGTGATAGTATAGGCCCGG	0.592																																						ENST00000218436.6																			0											c.(3466-3468)Act>Gct		inter-alpha-trypsin inhibitor heavy chain family, member 6							79.0	66.0	71.0					X																	54777700		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54777700T>C	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3466A>G	X.37:g.54777700T>C	ENSP00000218436:p.Thr1156Ala						p.T1156A	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			12	3495	-			1156					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.3466A>G	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.541531	0.00934	.	.	ENSG00000102313	ENST00000218436	T	0.02177	4.41	3.58	-0.554	0.11811	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.236559	0.22223	U	0.062938	T	0.00998	0.0033	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.48293	-0.9048	10	0.05525	T	0.97	.	3.8097	0.08792	0.235:0.4953:0.0:0.2697	.	1156	Q6UXX5	ITH5L_HUMAN	A	1156	ENSP00000218436:T1156A	ENSP00000218436:T1156A	T	-	1	0	ITIH5L	54794425	0.870000	0.30015	0.001000	0.08648	0.019000	0.09904	0.761000	0.26489	0.205000	0.20568	0.237000	0.17872	ACT		0.592	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		24	25	0	0	0	0.076483	0	24	25				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473333	22473333	+	RNA	SNP	A	A	G	rs188158697		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr15:22473333A>G	ENST00000557788.2	-	0	20							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											CCAGGAGGAGAAAGAACCACA	0.512																																						ENST00000557788.2																			0																																																			0							g.chr15:22473333A>G	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473333A>G														0	20	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.512	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			3	35	0	0	0	0.004672	0	3	35				
DENND1A	57706	broad.mit.edu	37	9	126319963	126319963	+	Silent	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr9:126319963C>T	ENST00000373624.2	-	13	1080	c.879G>A	c.(877-879)ctG>ctA	p.L293L	DENND1A_ENST00000373620.3_Silent_p.L293L|DENND1A_ENST00000373618.1_Silent_p.L261L|DENND1A_ENST00000394215.2_Silent_p.L263L|DENND1A_ENST00000394219.3_Silent_p.L261L|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Intron	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	293					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GCCTGTTCTTCAGGGAAGAGA	0.537																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(877-879)ctG>ctA		DENN/MADD domain containing 1A							77.0	64.0	69.0					9																	126319963		2203	4300	6503	SO:0001819	synonymous_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126319963C>T	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.879G>A	9.37:g.126319963C>T						DENND1A_ENST00000373618.1_Silent_p.L261L|DENND1A_ENST00000373620.3_Silent_p.L293L|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.L261L|DENND1A_ENST00000394215.2_Silent_p.L263L|DENND1A_ENST00000542603.1_Intron	p.L293L	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			13	1080	-			293					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	37	c.879G>A	CCDS35133.1																																																																																				0.537	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		5	25	0	0	0	0.014758	0	5	25				
MYH1	4619	broad.mit.edu	37	17	10404045	10404045	+	Missense_Mutation	SNP	C	C	T	rs142605633	byFrequency	TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr17:10404045C>T	ENST00000226207.5	-	28	3857	c.3763G>A	c.(3763-3765)Gct>Act	p.A1255T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1255					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A1255T(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTTCTAGAGCGCGGCACATC	0.453																																						ENST00000226207.5																			1	Substitution - Missense(1)	p.A1255T(1)	large_intestine(1)	NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3763-3765)Gct>Act		myosin, heavy chain 1, skeletal muscle, adult		C	THR/ALA	0,4406		0,0,2203	146.0	129.0	135.0		3763	3.1	0.1	17	dbSNP_134	135	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MYH1	NM_005963.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1255/1940	10404045	2,13004	2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404045C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3763G>A	17.37:g.10404045C>T	ENSP00000226207:p.Ala1255Thr					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.A1255T	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			28	3857	-			1255					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3763G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	2.155	-0.393510	0.04899	0.0	2.33E-4	ENSG00000109061	ENST00000226207	D	0.82433	-1.61	5.45	3.12	0.35913	Myosin tail (1);	0.320500	0.22216	N	0.063022	T	0.47930	0.1472	N	0.00468	-1.46	0.26872	N	0.967733	B	0.02656	0.0	B	0.04013	0.001	T	0.49103	-0.8974	10	0.02654	T	1	.	9.6684	0.39998	0.0:0.2075:0.0:0.7925	.	1255	P12882	MYH1_HUMAN	T	1255	ENSP00000226207:A1255T	ENSP00000226207:A1255T	A	-	1	0	MYH1	10344770	0.018000	0.18449	0.146000	0.22360	0.752000	0.42762	0.160000	0.16462	0.445000	0.26639	-0.300000	0.09419	GCT		0.453	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		16	57	0	0	0	0.028581	0	16	57				
DSPP	1834	broad.mit.edu	37	4	88534157	88534157	+	Silent	SNP	T	T	C			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr4:88534157T>C	ENST00000282478.7	+	3	852	c.819T>C	c.(817-819)agT>agC	p.S273S	DSPP_ENST00000399271.1_Silent_p.S273S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	273					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAAAAGACAGTAGTAATAACA	0.438																																						ENST00000399271.1																			0				breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(817-819)agT>agC		dentin sialophosphoprotein							116.0	129.0	125.0					4																	88534157		2038	4188	6226	SO:0001819	synonymous_variant	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88534157T>C	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.819T>C	4.37:g.88534157T>C						DSPP_ENST00000282478.7_Silent_p.S273S|RP11-742B18.1_ENST00000506480.1_RNA	p.S273S	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	4	939	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	273					A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	c.819T>C	CCDS43248.1																																																																																				0.438	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		22	24	0	0	0	0.055883	0	22	24				
METTL25	84190	broad.mit.edu	37	12	82828486	82828486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr12:82828486G>A	ENST00000248306.3	+	7	1456	c.1387G>A	c.(1387-1389)Gtt>Att	p.V463I	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	463							methyltransferase activity (GO:0008168)										ATTGGAGCGGGTTGCAGCTGG	0.373																																						ENST00000248306.3																			0											c.(1387-1389)Gtt>Att		methyltransferase like 25							115.0	111.0	113.0					12																	82828486		2203	4300	6503	SO:0001583	missense	84190							g.chr12:82828486G>A	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1387G>A	12.37:g.82828486G>A	ENSP00000248306:p.Val463Ile					METTL25_ENST00000547357.1_3'UTR	p.V463I	NM_032230.2	NP_115606.2					7	1456	+								Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	c.1387G>A	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106542	0.77096	.	.	ENSG00000127720	ENST00000248306;ENST00000550298	T	0.33865	1.39	5.19	5.19	0.71726	.	0.190614	0.45606	N	0.000345	T	0.38983	0.1061	L	0.32530	0.975	0.51233	D	0.999914	P	0.43314	0.803	P	0.48166	0.569	T	0.03662	-1.1015	10	0.22706	T	0.39	-17.2692	19.0728	0.93147	0.0:0.0:1.0:0.0	.	463	Q8N6Q8	CL026_HUMAN	I	463;98	ENSP00000248306:V463I	ENSP00000248306:V463I	V	+	1	0	C12orf26	81352617	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.010000	0.64004	2.589000	0.87451	0.650000	0.86243	GTT		0.373	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		28	54	0	0	0	0.034045	0	28	54				
SF3B3	23450	broad.mit.edu	37	16	70601345	70601345	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr16:70601345C>T	ENST00000302516.5	+	21	3069	c.2858C>T	c.(2857-2859)gCc>gTc	p.A953V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	953					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)	p.A953V(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GCTGCTATTGCCCCATTCCAG	0.493																																						ENST00000302516.5																			1	Substitution - Missense(1)	p.A953V(1)	kidney(1)	breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(2857-2859)gCc>gTc		splicing factor 3b, subunit 3, 130kDa							162.0	153.0	156.0					16																	70601345		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70601345C>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2858C>T	16.37:g.70601345C>T	ENSP00000305790:p.Ala953Val						p.A953V	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			21	3069	+		Ovarian(137;0.0694)	953					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.2858C>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.904934	0.72868	.	.	ENSG00000189091	ENST00000302516	T	0.17370	2.28	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	L	0.43152	1.355	0.80722	D	1	B	0.12630	0.006	B	0.19666	0.026	T	0.13176	-1.0519	10	0.10636	T	0.68	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	953	Q15393	SF3B3_HUMAN	V	953	ENSP00000305790:A953V	ENSP00000305790:A953V	A	+	2	0	SF3B3	69158846	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.965000	0.70387	2.941000	0.99782	0.655000	0.94253	GCC		0.493	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		3	80	0	0	0	0.004672	0	3	80				
ZW10	9183	broad.mit.edu	37	11	113639586	113639586	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr11:113639586A>G	ENST00000200135.3	-	2	353	c.209T>C	c.(208-210)aTt>aCt	p.I70T	RP11-667M19.2_ENST00000543486.1_RNA	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	70	Interaction with RINT1.|Interaction with ZWINT.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CAGCAGGTCAATGTCTTCAGA	0.463																																						ENST00000200135.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(208-210)aTt>aCt		zw10 kinetochore protein							176.0	160.0	165.0					11																	113639586		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113639586A>G	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.209T>C	11.37:g.113639586A>G	ENSP00000200135:p.Ile70Thr						p.I70T	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	2	353	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	70			Interaction with RINT1.|Interaction with ZWINT.		A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.209T>C	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220553	0.79464	.	.	ENSG00000086827	ENST00000200135	T	0.56444	0.46	5.07	5.07	0.68467	.	0.161857	0.56097	D	0.000027	T	0.55862	0.1947	L	0.50333	1.59	0.48040	D	0.999578	P	0.41080	0.737	P	0.46685	0.524	T	0.60777	-0.7196	10	0.72032	D	0.01	-16.6741	14.1589	0.65434	1.0:0.0:0.0:0.0	.	70	O43264	ZW10_HUMAN	T	70	ENSP00000200135:I70T	ENSP00000200135:I70T	I	-	2	0	ZW10	113144796	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.379000	0.90146	2.136000	0.66102	0.460000	0.39030	ATT		0.463	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		21	90	0	0	0	0.055883	0	21	90				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			0							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		3	18	0	0	0	0.009096	0	3	18				
ZNF292	23036	broad.mit.edu	37	6	87967233	87967233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr6:87967233delC	ENST00000369577.3	+	8	3929	c.3886delC	c.(3886-3888)catfs	p.H1296fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.H1291fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1296						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAATACAAATCATTATTCCTC	0.378																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(3886-3888)atfs		zinc finger protein 292							43.0	40.0	41.0					6																	87967233		1852	4087	5939	SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87967233delC	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3886delC	6.37:g.87967233delC	ENSP00000358590:p.His1296fs					ZNF292_ENST00000339907.4_Frame_Shift_Del_p.H1291fs	p.H1296fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	3929	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1296					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.3886delC	CCDS47457.1																																																																																				0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		8	11						8	11	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42793381	42793381	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:42793381delT	ENST00000575354.2	+	8	1223	c.1183delT	c.(1183-1185)tatfs	p.Y395fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.Y1304fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.Y395fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	395					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)				TTCTACCCAGTATGGAGCTCC	0.657			"""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.(3910-3912)atfs		capicua transcriptional repressor							61.0	66.0	64.0					19																	42793381		2203	4300	6503	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42793381delT	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.1183delT	19.37:g.42793381delT	ENSP00000458663:p.Tyr395fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.Y395fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.Y395fs	p.Y1304fs			Q96RK0	CIC_HUMAN			9	3978	+		Prostate(69;0.00682)	395					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.3910delT	CCDS12601.1																																																																																				0.657	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			37	26						37	26	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54754838	54754839	+	Intron	INS	-	-	G	rs373363902|rs531467777|rs527853571	byFrequency	TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:54754838_54754839insG	ENST00000316219.5	-	13	1734				LILRB5_ENST00000449561.2_Intron|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000450632.1_Frame_Shift_Ins_p.P599fs|LILRB5_ENST00000345866.6_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGTGGGGGTGGGGAGGCCTG	0.604														824	0.164537	0.0938	0.1196	5008	,	,		11633	0.4206		0.1074	False		,,,				2504	0.0869					ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1795-1797)cccfs		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5																																				SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754838_54754839insG	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-42->C	19.37:g.54754842_54754842dupG						LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron	p.P599fs			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1873_1874	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		424					Q8N760	Frame_Shift_Ins	INS	ENST00000316219.5	37	c.1796_1797insC	CCDS12885.1																																																																																				0.604	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			5	1						5	1	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			4	6						4	6	---	---	---	---
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	lincRNA	INS	-	-	A	rs397771084|rs58093396		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174				MIR374A_ENST00000362298.1_RNA|MIR545_ENST00000385085.1_RNA					FTX transcript, XIST regulator (non-protein coding)																		acctgtcccttaaaaaaaaaaa	0.455													|||unknown(HR)	2504	0.663311	0.4841	0.4856	3775	,	,		12960	0.5714		0.5	False		,,,				2504	0.4581					ENST00000429124.1																			0																																																			0							g.chrX:73506653_73506654insA	AK057701		Xq13.2	2013-12-18	2011-04-21	2011-04-21	ENSG00000230590	ENSG00000230590		"""Long non-coding RNAs"", ""-"""	37190	non-coding RNA	RNA, long non-coding	"""five prime to XIST"""		"""non-protein coding RNA 182"", ""mir-374a-545 cluster host gene (non-protein coding)"""	NCRNA00182, MIR374AHG		12045143, 21254562, 21118898	Standard	NR_028379		Approved	LINC00182, FLJ33139	uc010nlq.1		OTTHUMG00000021850		X.37:g.73506664_73506664dupA														0	174	-									RNA	INS	ENST00000429124.1	37																																																																																						0.455	FTX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057255.2	NR_028379		2	4						2	4	---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106046201	106046201	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:106046201delG	ENST00000357242.5	+	1	292	c.118delG	c.(118-120)gggfs	p.G41fs	TBC1D8B_ENST00000276175.3_Frame_Shift_Del_p.G41fs|TBC1D8B_ENST00000481617.2_Frame_Shift_Del_p.G41fs|TBC1D8B_ENST00000310452.2_Frame_Shift_Del_p.G41fs	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	41							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGAAGGCGGAGGGGGGCTCAC	0.577																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(118-120)ggfs		TBC1 domain family, member 8B (with GRAM domain)							42.0	34.0	37.0					X																	106046201		2203	4300	6503	SO:0001589	frameshift_variant	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106046201delG	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.118delG	X.37:g.106046201delG	ENSP00000349781:p.Gly41fs					TBC1D8B_ENST00000310452.2_Frame_Shift_Del_p.G41fs|TBC1D8B_ENST00000276175.3_Frame_Shift_Del_p.G41fs|TBC1D8B_ENST00000481617.2_Frame_Shift_Del_p.G41fs	p.G41fs	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			1	292	+			41					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Frame_Shift_Del	DEL	ENST00000357242.5	37	c.118delG	CCDS14522.1																																																																																				0.577	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		15	23						15	23	---	---	---	---
