#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
ZNF707	286075	broad.mit.edu	37	8	144776071	144776071	+	Missense_Mutation	SNP	C	C	T	rs370307757		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr8:144776071C>T	ENST00000532205.1	+	8	1386	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	ZNF707_ENST00000358656.4_Missense_Mutation_p.R163C|ZNF707_ENST00000454097.1_Missense_Mutation_p.R163C|ZNF707_ENST00000532158.1_Missense_Mutation_p.R163C|ZNF707_ENST00000418203.2_Missense_Mutation_p.R163C|RP11-429J17.2_ENST00000531565.1_RNA			Q96C28	ZN707_HUMAN	zinc finger protein 707	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGGCCGGGCCGCAGAGAGCG	0.677																																						ENST00000532205.1																			0				breast(1)	1						c.(487-489)Cgc>Tgc		zinc finger protein 707		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4067		0,1,2033	16.0	20.0	19.0		487,487,487	1.0	0.0	8		19	0,8352		0,0,4176	no	missense,missense,missense	ZNF707	NM_001100598.1,NM_001100599.1,NM_173831.3	180,180,180	0,1,6209	TT,TC,CC		0.0,0.0246,0.0081	benign,benign,benign	163/372,163/372,163/372	144776071	1,12419	2034	4176	6210	SO:0001583	missense	286075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr8:144776071C>T	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.487C>T	8.37:g.144776071C>T	ENSP00000436212:p.Arg163Cys					ZNF707_ENST00000532158.1_Missense_Mutation_p.R163C|ZNF707_ENST00000418203.2_Missense_Mutation_p.R163C|ZNF707_ENST00000358656.4_Missense_Mutation_p.R163C|ZNF707_ENST00000454097.1_Missense_Mutation_p.R163C	p.R163C			Q96C28	ZN707_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		8	1386	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		163					A8K317|B3KNY1|D3DWK7	Missense_Mutation	SNP	ENST00000532205.1	37	c.487C>T	CCDS47932.1	.	.	.	.	.	.	.	.	.	.	C	9.536	1.112094	0.20795	2.46E-4	0.0	ENSG00000181135	ENST00000454097;ENST00000358656;ENST00000532158;ENST00000526315;ENST00000532205;ENST00000418203	T;T;T;T;T;T	0.24151	3.45;3.45;3.45;1.87;3.45;3.45	1.93	0.999	0.19862	.	.	.	.	.	T	0.14356	0.0347	N	0.25332	0.735	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30446	-0.9978	8	.	.	.	.	4.7258	0.12939	0.0:0.8013:0.0:0.1987	.	88;163	B4DV46;Q96C28	.;ZN707_HUMAN	C	163;163;163;127;163;163	ENSP00000409029:R163C;ENSP00000351482:R163C;ENSP00000436250:R163C;ENSP00000435906:R127C;ENSP00000436212:R163C;ENSP00000413215:R163C	.	R	+	1	0	ZNF707	144848059	0.227000	0.23707	0.004000	0.12327	0.025000	0.11179	0.746000	0.26275	0.335000	0.23614	0.514000	0.50259	CGC		0.677	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		4	19	0	0	0	1	0	4	19				
PER3	8863	broad.mit.edu	37	1	7848268	7848268	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:7848268G>C	ENST00000361923.2	+	4	729	c.554G>C	c.(553-555)aGa>aCa	p.R185T	PER3_ENST00000377541.1_Missense_Mutation_p.R185T|PER3_ENST00000377532.3_Missense_Mutation_p.R185T	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	185	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CACACTGCCAGAGCTCAGCTT	0.463																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(553-555)aGa>aCa		period circadian clock 3							115.0	102.0	107.0					1																	7848268		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7848268G>C	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.554G>C	1.37:g.7848268G>C	ENSP00000355031:p.Arg185Thr					PER3_ENST00000361923.2_Missense_Mutation_p.R185T|PER3_ENST00000377541.1_Missense_Mutation_p.R185T	p.R185T			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	4	778	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	185			PAS 1.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.554G>C	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678660	0.47886	.	.	ENSG00000049246	ENST00000377541;ENST00000377532;ENST00000361923	T;T;T	0.29397	1.57;2.97;2.99	5.25	1.87	0.25490	PAS (1);	0.302109	0.32836	N	0.005590	T	0.12561	0.0305	N	0.08118	0	0.23909	N	0.996494	P;P;P;P	0.41643	0.665;0.645;0.758;0.665	B;B;B;B	0.37780	0.157;0.132;0.258;0.157	T	0.11591	-1.0581	10	0.41790	T	0.15	.	4.8788	0.13668	0.6645:0.1993:0.1362:0.0	.	185;185;185;185	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	T	185	ENSP00000366764:R185T;ENSP00000366755:R185T;ENSP00000355031:R185T	ENSP00000355031:R185T	R	+	2	0	PER3	7770855	0.001000	0.12720	0.895000	0.35142	0.964000	0.63967	-0.079000	0.11357	0.107000	0.17824	0.650000	0.86243	AGA		0.463	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		4	45	0	0	0	1	0	4	45				
SYNE1	23345	broad.mit.edu	37	6	152539540	152539540	+	Splice_Site	SNP	T	T	C	rs35128811		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr6:152539540T>C	ENST00000367255.5	-	121	22646		c.e121-2		SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACTCCAGCCTTTTTTTCCAC	0.343										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e121-2		spectrin repeat containing, nuclear envelope 1							125.0	136.0	132.0					6																	152539540		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152539540T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22045-2A>G	6.37:g.152539540T>C		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site		NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	121	22646	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37		CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192011	0.38707	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9247	0.79606	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYNE1	152581233	1.000000	0.71417	0.823000	0.32752	0.548000	0.35241	6.065000	0.71176	2.160000	0.67779	0.528000	0.53228	.		0.343	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	4	216	0	0	0	1	0	4	216				
OR10R2	343406	broad.mit.edu	37	1	158450409	158450409	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:158450409A>C	ENST00000368152.1	+	1	742	c.742A>C	c.(742-744)Att>Ctt	p.I248L	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TATCCTGAAGATTCCCTCAGC	0.438																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(742-744)Att>Ctt		olfactory receptor, family 10, subfamily R, member 2							169.0	141.0	150.0					1																	158450409		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450409A>C	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.742A>C	1.37:g.158450409A>C	ENSP00000357134:p.Ile248Leu					RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	p.I248L	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	742	+	all_hematologic(112;0.0378)		248					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.742A>C	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	a	17.40	3.379058	0.61735	.	.	ENSG00000198965	ENST00000368152	T	0.00262	8.4	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	M	0.73962	2.25	0.22961	N	0.998502	D	0.60575	0.988	D	0.70935	0.971	T	0.51244	-0.8730	9	0.35671	T	0.21	.	12.409	0.55455	1.0:0.0:0.0:0.0	.	248	Q8NGX6	O10R2_HUMAN	L	248	ENSP00000357134:I248L	ENSP00000357134:I248L	I	+	1	0	OR10R2	156717033	0.160000	0.22878	0.995000	0.50966	0.796000	0.44982	1.898000	0.39809	1.735000	0.51646	0.533000	0.62120	ATT		0.438	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		10	75	0	0	0	1	0	10	75				
XPO5	57510	broad.mit.edu	37	6	43519114	43519114	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr6:43519114G>A	ENST00000265351.7	-	15	1859	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	XPO5_ENST00000424378.2_5'UTR	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	550	Necessary for interaction with ILF3.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AAGGACGCAGGACAGGATGAG	0.438																																						ENST00000265351.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(1648-1650)tCc>tTc		exportin 5							134.0	134.0	134.0					6																	43519114		1918	4135	6053	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43519114G>A	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.1649C>T	6.37:g.43519114G>A	ENSP00000265351:p.Ser550Phe					XPO5_ENST00000424378.2_5'UTR	p.S550F	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		15	1859	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		550			Necessary for interaction with ILF3.		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.1649C>T	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077886	0.94000	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372252;ENST00000372258;ENST00000439465	D	0.89485	-2.52	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94221	0.8145	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.94197	0.7446	10	0.87932	D	0	-9.6087	19.8639	0.96797	0.0:0.0:1.0:0.0	.	550	Q9HAV4	XPO5_HUMAN	F	550;255;90;90;178	ENSP00000265351:S550F	ENSP00000265351:S550F	S	-	2	0	XPO5	43627092	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.341000	0.97041	2.772000	0.95346	0.650000	0.86243	TCC		0.438	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		24	56	0	0	0	1	0	24	56				
TXNDC2	84203	broad.mit.edu	37	18	9888099	9888099	+	Silent	SNP	T	T	G			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr18:9888099T>G	ENST00000306084.6	+	2	1822	c.1623T>G	c.(1621-1623)ctT>ctG	p.L541L	TXNDC2_ENST00000357775.5_Silent_p.L474L|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	541	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCGGCGCCCTTAAGGAAAAAC	0.393																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(1621-1623)ctT>ctG		thioredoxin domain containing 2 (spermatozoa)							29.0	30.0	29.0					18																	9888099		2203	4300	6503	SO:0001819	synonymous_variant	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9888099T>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1623T>G	18.37:g.9888099T>G						TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.L474L|TXNDC2_ENST00000577697.1_3'UTR	p.L541L	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1822	+			541			Thioredoxin.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.1623T>G	CCDS42414.1																																																																																				0.393	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			8	15	0	0	0	1	0	8	15				
AGBL5	60509	broad.mit.edu	37	2	27277614	27277614	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr2:27277614G>A	ENST00000360131.4	+	5	827	c.668G>A	c.(667-669)cGt>cAt	p.R223H	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.R223H	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	223					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGAGAGCCCCGTCTAGAGCAG	0.502																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(667-669)cGt>cAt		ATP/GTP binding protein-like 5							130.0	128.0	129.0					2																	27277614		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27277614G>A	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.668G>A	2.37:g.27277614G>A	ENSP00000353249:p.Arg223His					AGBL5_ENST00000323064.8_Missense_Mutation_p.R223H	p.R223H	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			5	827	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		223					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.668G>A	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	G	34	5.296096	0.95574	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.16324	2.38;2.35	6.08	6.08	0.98989	.	0.044702	0.85682	D	0.000000	T	0.41558	0.1164	L	0.54863	1.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.03717	-1.1010	10	0.72032	D	0.01	-15.3413	20.2585	0.98435	0.0:0.0:1.0:0.0	.	223;223;223	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	H	223	ENSP00000323681:R223H;ENSP00000353249:R223H	ENSP00000323681:R223H	R	+	2	0	AGBL5	27131118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	CGT		0.502	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		35	84	0	0	0	1	0	35	84				
SCN10A	6336	broad.mit.edu	37	3	38793972	38793972	+	Missense_Mutation	SNP	C	C	T	rs372716583	byFrequency	TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr3:38793972C>T	ENST00000449082.2	-	11	1492	c.1493G>A	c.(1492-1494)cGg>cAg	p.R498Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	498					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ATGACTAGCCCGGCGTTTTCC	0.547													C|||	2	0.000399361	0.0	0.0	5008	,	,		18634	0.0		0.0	False		,,,				2504	0.002					ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(1492-1494)cGg>cAg		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	C	GLN/ARG	0,4406		0,0,2203	29.0	31.0	30.0		1493	4.8	1.0	3		30	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCN10A	NM_006514.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	498/1957	38793972	1,13005	2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38793972C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1493G>A	3.37:g.38793972C>T	ENSP00000390600:p.Arg498Gln						p.R498Q	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	11	1492	-			498					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1493G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995697	0.93167	0.0	1.16E-4	ENSG00000185313	ENST00000449082	D	0.96522	-4.04	4.8	4.8	0.61643	.	1.287940	0.05801	N	0.612182	D	0.96343	0.8807	L	0.56769	1.78	0.24495	N	0.994285	D	0.61697	0.99	P	0.45474	0.482	D	0.90582	0.4530	10	0.59425	D	0.04	.	18.386	0.90466	0.0:1.0:0.0:0.0	.	498	Q9Y5Y9	SCNAA_HUMAN	Q	498	ENSP00000390600:R498Q	ENSP00000390600:R498Q	R	-	2	0	SCN10A	38768976	0.556000	0.26538	0.989000	0.46669	0.911000	0.54048	3.280000	0.51677	2.649000	0.89929	0.455000	0.32223	CGG		0.547	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		7	25	0	0	0	1	0	7	25				
ZNF518B	85460	broad.mit.edu	37	4	10447770	10447770	+	Silent	SNP	T	T	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr4:10447770T>A	ENST00000326756.3	-	3	621	c.183A>T	c.(181-183)gcA>gcT	p.A61A		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	61					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTTTGCACTTTGCACATGTAG	0.488																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(181-183)gcA>gcT		zinc finger protein 518B							209.0	186.0	194.0					4																	10447770		2203	4300	6503	SO:0001819	synonymous_variant	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10447770T>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.183A>T	4.37:g.10447770T>A							p.A61A	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	621	-			61					Q96LN8	Silent	SNP	ENST00000326756.3	37	c.183A>T	CCDS33960.1																																																																																				0.488	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		16	131	0	0	0	1	0	16	131				
ILKAP	80895	broad.mit.edu	37	2	239090711	239090711	+	Silent	SNP	G	G	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr2:239090711G>A	ENST00000254654.3	-	9	1006	c.831C>T	c.(829-831)aaC>aaT	p.N277N		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	277	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GTTACCTGACGTTTCCTCCAG	0.493																																						ENST00000254654.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(829-831)aaC>aaT		integrin-linked kinase-associated serine/threonine phosphatase							334.0	295.0	308.0					2																	239090711		2203	4300	6503	SO:0001819	synonymous_variant	80895					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding	g.chr2:239090711G>A	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.831C>T	2.37:g.239090711G>A							p.N277N	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)	9	1006	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	277			PP2C-like.		B3KM39	Silent	SNP	ENST00000254654.3	37	c.831C>T	CCDS2526.1																																																																																				0.493	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		10	169	0	0	0	1	0	10	169				
AKR1C4	1109	broad.mit.edu	37	10	5248268	5248268	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr10:5248268G>A	ENST00000380448.1	+	7	731	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	AKR1C4_ENST00000263126.1_Missense_Mutation_p.A160T			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	160					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						TGCAGGATTGGCCAAGTCCAT	0.493																																						ENST00000380448.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						c.(478-480)Gcc>Acc		aldo-keto reductase family 1, member C4	NADH(DB00157)						160.0	140.0	147.0					10																	5248268		2203	4300	6503	SO:0001583	missense	1109				androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	g.chr10:5248268G>A	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.478G>A	10.37:g.5248268G>A	ENSP00000369814:p.Ala160Thr					AKR1C4_ENST00000263126.1_Missense_Mutation_p.A160T	p.A160T			P17516	AK1C4_HUMAN			7	731	+			160					Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	c.478G>A	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	G	5.716	0.316610	0.10845	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.52754	0.65;0.65	3.16	1.2	0.21068	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.432537	0.20662	N	0.088006	T	0.23649	0.0572	N	0.11201	0.11	0.33351	D	0.571106	B	0.12013	0.005	B	0.18263	0.021	T	0.15896	-1.0421	10	0.25106	T	0.35	.	6.7199	0.23325	0.2549:0.0:0.7451:0.0	.	160	P17516	AK1C4_HUMAN	T	160	ENSP00000369814:A160T;ENSP00000263126:A160T	ENSP00000263126:A160T	A	+	1	0	AKR1C4	5238268	0.194000	0.23325	0.735000	0.30896	0.146000	0.21551	0.134000	0.15932	0.019000	0.15079	0.313000	0.20887	GCC		0.493	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818		4	89	0	0	0	1	0	4	89				
PNMT	5409	broad.mit.edu	37	17	37826226	37826226	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr17:37826226C>T	ENST00000269582.2	+	3	751	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PNMT_ENST00000581428.1_3'UTR|PNMT_ENST00000394246.1_Missense_Mutation_p.R47C	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	145					catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|epinephrine biosynthetic process (GO:0042418)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phenylethanolamine N-methyltransferase activity (GO:0004603)			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGATAAGGAGCGCCAGCTGCG	0.662																																						ENST00000269582.2																			0				NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(433-435)Cgc>Tgc		phenylethanolamine N-methyltransferase							38.0	42.0	40.0					17																	37826226		2203	4299	6502	SO:0001583	missense	5409				catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity	g.chr17:37826226C>T		CCDS11343.1	17q	2010-04-16			ENSG00000141744	ENSG00000141744	2.1.1.28		9160	protein-coding gene	gene with protein product		171190		PENT		3372503	Standard	NM_002686		Approved		uc002hsi.2	P11086	OTTHUMG00000133209	ENST00000269582.2:c.433C>T	17.37:g.37826226C>T	ENSP00000269582:p.Arg145Cys					PNMT_ENST00000394246.1_Missense_Mutation_p.R47C|PNMT_ENST00000581428.1_3'UTR	p.R145C	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		3	751	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		145						Missense_Mutation	SNP	ENST00000269582.2	37	c.433C>T	CCDS11343.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702918	0.30232	.	.	ENSG00000141744	ENST00000394246;ENST00000269582	T;T	0.04234	3.67;3.67	4.94	1.47	0.22746	.	0.582482	0.17977	N	0.155673	T	0.03959	0.0111	L	0.36672	1.1	0.80722	D	1	B	0.19073	0.033	B	0.09377	0.004	T	0.41161	-0.9524	10	0.56958	D	0.05	-5.0196	4.5656	0.12184	0.2922:0.5279:0.0:0.1798	.	145	P11086	PNMT_HUMAN	C	47;145	ENSP00000377791:R47C;ENSP00000269582:R145C	ENSP00000269582:R145C	R	+	1	0	PNMT	35079752	0.003000	0.15002	0.960000	0.40013	0.804000	0.45430	-0.219000	0.09228	0.053000	0.16036	-0.500000	0.04577	CGC		0.662	PNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256923.2	NM_002686		7	59	0	0	0	1	0	7	59				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		5	112	0	0	0	1	0	5	112				
PRPF4	9128	broad.mit.edu	37	9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T	rs575911571		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr9:116049072C>T	ENST00000374198.4	+	9	1001	c.899C>T	c.(898-900)gCg>gTg	p.A300V	PRPF4_ENST00000374199.4_Missense_Mutation_p.A299V	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	300					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GCCTCTTGTGCGGCTGATGGC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		18454	0.0		0.001	False		,,,				2504	0.0					ENST00000374199.4																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						c.(895-897)gCg>gTg		pre-mRNA processing factor 4							353.0	352.0	353.0					9																	116049072		2203	4300	6503	SO:0001583	missense	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116049072C>T	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.899C>T	9.37:g.116049072C>T	ENSP00000363313:p.Ala300Val					PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V	p.A299V			O43172	PRP4_HUMAN			9	1297	+			300					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.896C>T	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163644	0.94727	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.61040	0.14;0.14	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.155793	0.56097	D	0.000025	T	0.72244	0.3436	L	0.56340	1.77	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.65140	0.932;0.849	T	0.73040	-0.4108	10	0.72032	D	0.01	.	19.0872	0.93209	0.0:1.0:0.0:0.0	.	315;300	Q59EL4;O43172	.;PRP4_HUMAN	V	299;300	ENSP00000363315:A299V;ENSP00000363313:A300V	ENSP00000363313:A300V	A	+	2	0	PRPF4	115088893	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.378000	0.79679	2.752000	0.94435	0.655000	0.94253	GCG		0.468	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		5	500	0	0	0	1	0	5	500				
PCNXL4	64430	broad.mit.edu	37	14	60591204	60591204	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr14:60591204G>T	ENST00000406854.1	+	9	2869	c.2315G>T	c.(2314-2316)tGc>tTc	p.C772F	PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000404681.2_Missense_Mutation_p.C772F|PCNXL4_ENST00000317623.4_Missense_Mutation_p.C538F|PCNXL4_ENST00000406949.1_Missense_Mutation_p.C538F			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	772						integral component of membrane (GO:0016021)											GTTCAATACTGCTCCAAAAGG	0.388																																						ENST00000406854.1																			0											c.(2314-2316)tGc>tTc		pecanex-like 4 (Drosophila)							98.0	103.0	102.0					14																	60591204		2202	4300	6502	SO:0001583	missense	64430							g.chr14:60591204G>T	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2315G>T	14.37:g.60591204G>T	ENSP00000384801:p.Cys772Phe					PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000404681.2_Missense_Mutation_p.C772F|PCNXL4_ENST00000317623.4_Missense_Mutation_p.C538F|PCNXL4_ENST00000406949.1_Missense_Mutation_p.C538F	p.C772F							9	2869	+								A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.2315G>T		.	.	.	.	.	.	.	.	.	.	G	24.1	4.496890	0.85069	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.25414	1.82;1.83;1.8;1.83	5.69	5.69	0.88448	.	0.127749	0.85682	D	0.000000	T	0.53061	0.1773	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.68192	0.942;0.956	T	0.49934	-0.8886	10	0.48119	T	0.1	.	19.8067	0.96534	0.0:0.0:1.0:0.0	.	772;538	Q63HM2;B5MC47	CN135_HUMAN;.	F	538;772;538;772	ENSP00000317396:C538F;ENSP00000384801:C772F;ENSP00000385201:C538F;ENSP00000385713:C772F	ENSP00000317396:C538F	C	+	2	0	C14orf135	59660957	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.132000	0.77251	2.672000	0.90937	0.650000	0.86243	TGC		0.388	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		14	97	1	0	0.000219431	1	0.00022286	14	97				
CDH26	60437	broad.mit.edu	37	20	58564004	58564004	+	Missense_Mutation	SNP	G	G	A	rs369677402		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr20:58564004G>A	ENST00000244047.5	+	9	1380	c.1069G>A	c.(1069-1071)Gtg>Atg	p.V357M	CDH26_ENST00000348616.4_Missense_Mutation_p.V357M			Q8IXH8	CAD26_HUMAN	cadherin 26	357	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CATCATTGTCGTGGAGAATGA	0.567																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1069-1071)Gtg>Atg		cadherin 26							60.0	65.0	63.0					20																	58564004		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58564004G>A	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1069G>A	20.37:g.58564004G>A	ENSP00000244047:p.Val357Met					CDH26_ENST00000244047.5_Missense_Mutation_p.V357M	p.V357M	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		9	1369	+	all_lung(29;0.00963)		357			Cadherin 3.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.1069G>A		.	.	.	.	.	.	.	.	.	.	G	16.65	3.181699	0.57800	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.66995	-0.24;-0.24	5.41	2.02	0.26589	.	0.255222	0.31102	N	0.008259	D	0.83216	0.5206	H	0.94503	3.545	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73199	-0.4058	10	0.87932	D	0	.	6.6552	0.22984	0.1739:0.1428:0.6833:0.0	.	357	Q8IXH8-4	.	M	357	ENSP00000244047:V357M;ENSP00000339390:V357M	ENSP00000244047:V357M	V	+	1	0	CDH26	57997399	0.058000	0.20735	0.000000	0.03702	0.062000	0.15995	0.973000	0.29422	0.232000	0.21100	0.655000	0.94253	GTG		0.567	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		7	49	0	0	0	1	0	7	49				
C10orf53	282966	broad.mit.edu	37	10	50901903	50901903	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr10:50901903G>A	ENST00000374111.3	+	2	193	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	CHAT_ENST00000455728.2_3'UTR|C10orf53_ENST00000374112.3_Missense_Mutation_p.V61I|C10orf53_ENST00000535836.1_Missense_Mutation_p.V61I|C10orf53_ENST00000374113.3_Missense_Mutation_p.V61I	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	61										endometrium(1)|lung(6)	7		all_neural(218;0.107)				GAATGAAGAAGTCATCTTCCA	0.468																																						ENST00000374113.3																			0				endometrium(1)|lung(6)	7						c.(181-183)Gtc>Atc		chromosome 10 open reading frame 53							196.0	177.0	184.0					10																	50901903		2203	4300	6503	SO:0001583	missense	282966							g.chr10:50901903G>A	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374111.3:c.181G>A	10.37:g.50901903G>A	ENSP00000363225:p.Val61Ile					C10orf53_ENST00000374111.3_Missense_Mutation_p.V61I|C10orf53_ENST00000535836.1_Missense_Mutation_p.V61I|CHAT_ENST00000455728.2_3'UTR|C10orf53_ENST00000374112.3_Missense_Mutation_p.V61I	p.V61I			Q8N6V4	CJ053_HUMAN			2	228	+		all_neural(218;0.107)	61					A6NI81|A6NLE0|B9ZVK6	Missense_Mutation	SNP	ENST00000374111.3	37	c.181G>A	CCDS41521.1	.	.	.	.	.	.	.	.	.	.	G	3.976	-0.007339	0.07773	.	.	ENSG00000178645	ENST00000374113;ENST00000374111;ENST00000374112;ENST00000535836	.	.	.	5.6	0.0672	0.14365	.	1.924430	0.02906	N	0.136131	T	0.16257	0.0391	N	0.03177	-0.4	0.09310	N	1	B;B;B	0.20052	0.041;0.01;0.0	B;B;B	0.16722	0.016;0.013;0.003	T	0.17623	-1.0363	9	0.12766	T	0.61	-0.3818	5.8514	0.18696	0.5445:0.143:0.3125:0.0	.	61;61;61	B9ZVK6;Q8N6V4-2;Q8N6V4	.;.;CJ053_HUMAN	I	61	.	ENSP00000363225:V61I	V	+	1	0	C10orf53	50571909	0.000000	0.05858	0.001000	0.08648	0.182000	0.23217	-0.016000	0.12613	0.207000	0.20607	-0.140000	0.14226	GTC		0.468	C10orf53-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048005.1	NM_182554		20	48	0	0	0	1	0	20	48				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	61	0	0	0	1	0	5	61				
KCNF1	3754	broad.mit.edu	37	2	11053815	11053815	+	Silent	SNP	C	C	T	rs144040411	byFrequency	TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr2:11053815C>T	ENST00000295082.1	+	1	1753	c.1263C>T	c.(1261-1263)acC>acT	p.T421T		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	421					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TCCTGGAGACCGCGGCCAAGC	0.617																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(1261-1263)acC>acT		potassium voltage-gated channel, subfamily F, member 1							92.0	76.0	82.0					2																	11053815		2203	4300	6503	SO:0001819	synonymous_variant	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053815C>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1263C>T	2.37:g.11053815C>T							p.T421T	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1753	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		421					O43527|Q585L3	Silent	SNP	ENST00000295082.1	37	c.1263C>T	CCDS1676.1																																																																																				0.617	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		8	36	0	0	0	1	0	8	36				
KRTAP5-4	387267	broad.mit.edu	37	11	1643191	1643191	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr11:1643191A>G	ENST00000399682.1	-	1	177	c.133T>C	c.(133-135)Tgt>Cgt	p.C45R		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGGagccacagcccccacag	0.692																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(133-135)Tgt>Cgt		keratin associated protein 5-4							6.0	15.0	12.0					11																	1643191		644	1532	2176	SO:0001583	missense	387267					keratin filament		g.chr11:1643191A>G	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.133T>C	11.37:g.1643191A>G	ENSP00000382590:p.Cys45Arg						p.C45R	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	177	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	45						Missense_Mutation	SNP	ENST00000399682.1	37	c.133T>C		.	.	.	.	.	.	.	.	.	.	A	8.091	0.774445	0.16051	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.01422	4.91	2.56	1.34	0.21922	.	.	.	.	.	T	0.05547	0.0146	M	0.92880	3.355	0.36705	D	0.880345	D	0.54964	0.969	P	0.50590	0.645	T	0.11203	-1.0597	9	0.87932	D	0	.	5.7924	0.18367	0.8478:0.0:0.1522:0.0	.	45	Q6L8H1	KRA54_HUMAN	R	45	ENSP00000382590:C45R	ENSP00000331603:C45R	C	-	1	0	KRTAP5-4	1599767	0.943000	0.32029	0.981000	0.43875	0.509000	0.34042	0.886000	0.28241	0.049000	0.15920	0.163000	0.16589	TGT		0.692	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		4	105	0	0	0	1	0	4	105				
C16orf89	146556	broad.mit.edu	37	16	5110422	5110422	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:5110422A>G	ENST00000315997.5	-	3	575	c.374T>C	c.(373-375)cTc>cCc	p.L125P	C16orf89_ENST00000474471.3_Missense_Mutation_p.L125P|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.L163P|C16orf89_ENST00000350219.4_Missense_Mutation_p.L163P|C16orf89_ENST00000472572.3_Missense_Mutation_p.L125P	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	125						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CCCGGGCTGGAGGGTCAGCTG	0.627																																						ENST00000315997.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(373-375)cTc>cCc		chromosome 16 open reading frame 89							37.0	42.0	41.0					16																	5110422		1971	4162	6133	SO:0001583	missense	146556					extracellular region		g.chr16:5110422A>G		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.374T>C	16.37:g.5110422A>G	ENSP00000324672:p.Leu125Pro					C16orf89_ENST00000422873.1_Missense_Mutation_p.L163P|C16orf89_ENST00000474471.3_Missense_Mutation_p.L125P|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Missense_Mutation_p.L125P|C16orf89_ENST00000350219.4_Missense_Mutation_p.L163P	p.L125P	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN			3	575	-			125					B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	c.374T>C	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	A	12.48	1.952025	0.34471	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.11	5.11	0.69529	.	0.407784	0.21759	N	0.069555	T	0.52273	0.1724	L	0.59436	1.845	0.24617	N	0.993694	D;D	0.71674	0.998;0.998	D;D	0.64877	0.921;0.93	T	0.47849	-0.9085	10	0.66056	D	0.02	-5.3957	11.3016	0.49309	1.0:0.0:0.0:0.0	.	125;163	Q6UX73;G3V0F0	CP089_HUMAN;.	P	125;125;125;163;163;125	ENSP00000417158:L125P;ENSP00000420566:L125P;ENSP00000390402:L163P;ENSP00000283478:L163P;ENSP00000324672:L125P	ENSP00000324672:L125P	L	-	2	0	C16orf89	5050423	0.177000	0.23109	0.274000	0.24659	0.120000	0.20174	5.013000	0.64023	1.924000	0.55735	0.460000	0.39030	CTC		0.627	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		3	43	0	0	0	1	0	3	43				
RBFOX1	54715	broad.mit.edu	37	16	7568246	7568246	+	Missense_Mutation	SNP	C	C	T	rs146499343		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:7568246C>T	ENST00000550418.1	+	5	1113	c.125C>T	c.(124-126)aCg>aTg	p.T42M	RBFOX1_ENST00000535565.2_Missense_Mutation_p.T78M|RBFOX1_ENST00000436368.2_Missense_Mutation_p.T62M|RBFOX1_ENST00000355637.4_Missense_Mutation_p.T62M|RBFOX1_ENST00000552089.1_Missense_Mutation_p.T78M|RBFOX1_ENST00000422070.4_Missense_Mutation_p.T85M|RBFOX1_ENST00000340209.4_Missense_Mutation_p.T47M|RBFOX1_ENST00000547338.1_Missense_Mutation_p.T42M|RBFOX1_ENST00000547372.1_Missense_Mutation_p.T85M|RBFOX1_ENST00000311745.5_Missense_Mutation_p.T62M|RBFOX1_ENST00000553186.1_Missense_Mutation_p.T42M	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	42					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCGGAATACACGGCCCCTCAT	0.637																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(139-141)aCg>aTg		RNA binding protein, fox-1 homolog (C. elegans) 1		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4394		0,0,2197	121.0	118.0	119.0		125,125,125,185,185,185	4.8	1.0	16	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	RBFOX1	NM_001142333.1,NM_001142334.1,NM_018723.3,NM_145891.2,NM_145892.2,NM_145893.2	81,81,81,81,81,81	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	42/371,42/398,42/398,62/419,62/393,62/396	7568246	1,12993	2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568246C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.125C>T	16.37:g.7568246C>T	ENSP00000450031:p.Thr42Met					RBFOX1_ENST00000436368.2_Missense_Mutation_p.T62M|RBFOX1_ENST00000552089.1_Missense_Mutation_p.T78M|RBFOX1_ENST00000311745.5_Missense_Mutation_p.T62M|RBFOX1_ENST00000355637.4_Missense_Mutation_p.T62M|RBFOX1_ENST00000422070.4_Missense_Mutation_p.T85M|RBFOX1_ENST00000547338.1_Missense_Mutation_p.T42M|RBFOX1_ENST00000553186.1_Missense_Mutation_p.T42M|RBFOX1_ENST00000535565.2_Missense_Mutation_p.T78M|RBFOX1_ENST00000550418.1_Missense_Mutation_p.T42M|RBFOX1_ENST00000547372.1_Missense_Mutation_p.T85M	p.T47M			Q9NWB1	RFOX1_HUMAN			2	437	+			42					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.140C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643869	0.87859	0.0	1.16E-4	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.32753	1.9;1.44;1.74;1.7;1.71;1.85;1.44;1.57;1.77;1.75;1.46	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	L	0.36672	1.1	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.992;1.0;0.978;0.962;0.999	D;D;D;D;P;D;P;P;D	0.87578	0.977;0.994;0.952;0.97;0.796;0.998;0.796;0.629;0.949	T	0.33343	-0.9872	10	0.34782	T	0.22	-7.3313	17.9952	0.89181	0.0:1.0:0.0:0.0	.	62;78;85;62;62;62;42;42;85	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	M	42;42;42;85;85;78;78;42;42;62;62;62;62;47	ENSP00000450402:T42M;ENSP00000450031:T42M;ENSP00000447753:T42M;ENSP00000446842:T85M;ENSP00000391269:T85M;ENSP00000447281:T42M;ENSP00000447717:T42M;ENSP00000402745:T62M;ENSP00000309117:T62M;ENSP00000347855:T62M;ENSP00000344196:T47M	ENSP00000309117:T62M	T	+	2	0	RBFOX1	7508247	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.041000	0.76558	2.222000	0.72286	0.557000	0.71058	ACG		0.637	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		7	161	0	0	0	1	0	7	161				
NEURL4	84461	broad.mit.edu	37	17	7222513	7222513	+	Silent	SNP	G	G	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr17:7222513G>A	ENST00000399464.2	-	22	3555	c.3540C>T	c.(3538-3540)ttC>ttT	p.F1180F	RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000315614.7_Silent_p.F1178F|NEURL4_ENST00000574120.1_5'Flank|NEURL4_ENST00000570460.1_Silent_p.F1156F	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1180	NHR 6. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTCGGTTTAGGAAATCTATCC	0.567																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3538-3540)ttC>ttT		neuralized E3 ubiquitin protein ligase 4							50.0	59.0	56.0					17																	7222513		2011	4175	6186	SO:0001819	synonymous_variant	84461							g.chr17:7222513G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3540C>T	17.37:g.7222513G>A						NEURL4_ENST00000315614.7_Silent_p.F1178F|NEURL4_ENST00000570460.1_Silent_p.F1156F	p.F1180F	NM_032442.2	NP_115818.2					22	3555	-								Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	c.3540C>T	CCDS42251.1																																																																																				0.567	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		9	34	0	0	0	1	0	9	34				
TBC1D19	55296	broad.mit.edu	37	4	26622238	26622238	+	Silent	SNP	T	T	C			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr4:26622238T>C	ENST00000264866.4	+	4	500	c.222T>C	c.(220-222)ttT>ttC	p.F74F	TBC1D19_ENST00000511789.1_Intron|TBC1D19_ENST00000515568.1_3'UTR	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	74							Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTCCTAGGTTTCCTTTACCTA	0.368																																						ENST00000264866.4																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17						c.(220-222)ttT>ttC		TBC1 domain family, member 19							122.0	114.0	117.0					4																	26622238		2203	4300	6503	SO:0001819	synonymous_variant	55296					intracellular	Rab GTPase activator activity	g.chr4:26622238T>C	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.222T>C	4.37:g.26622238T>C						TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Intron	p.F74F	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN			4	500	+		Breast(46;0.0503)	74					B9A6M0|Q9NUX1	Silent	SNP	ENST00000264866.4	37	c.222T>C	CCDS3439.1																																																																																				0.368	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		15	51	0	0	0	1	0	15	51				
LPAR4	2846	broad.mit.edu	37	X	78010846	78010846	+	Silent	SNP	T	T	C			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chrX:78010846T>C	ENST00000435339.3	+	2	866	c.480T>C	c.(478-480)gcT>gcC	p.A160A		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	160					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTGTGTGTGCTGGTGTCTGGA	0.463																																						ENST00000435339.2																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(478-480)gcT>gcC		lysophosphatidic acid receptor 4							170.0	114.0	133.0					X																	78010846		2203	4300	6503	SO:0001819	synonymous_variant	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010846T>C	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.480T>C	X.37:g.78010846T>C						LPAR4_ENST00000373301.2_Silent_p.A160A	p.A160A	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	885	+			160					B2RAC7|O15132|Q502U9|Q6NSP5	Silent	SNP	ENST00000435339.3	37	c.480T>C	CCDS14441.1																																																																																				0.463	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		7	21	0	0	0	1	0	7	21				
TMEM209	84928	broad.mit.edu	37	7	129818271	129818271	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr7:129818271T>C	ENST00000397622.2	-	10	1339	c.1217A>G	c.(1216-1218)aAt>aGt	p.N406S	RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Intron|TMEM209_ENST00000473456.1_Intron|TMEM209_ENST00000462753.1_Missense_Mutation_p.N405S	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	406						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GTATTCCTGATTTGGAGTAAG	0.353																																						ENST00000397622.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12						c.(1216-1218)aAt>aGt		transmembrane protein 209							59.0	54.0	56.0					7																	129818271		1814	4077	5891	SO:0001583	missense	84928					integral to membrane		g.chr7:129818271T>C		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.1217A>G	7.37:g.129818271T>C	ENSP00000380747:p.Asn406Ser					RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Intron|TMEM209_ENST00000462753.1_Missense_Mutation_p.N405S|TMEM209_ENST00000473456.1_Intron	p.N406S	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN			10	1339	-	Melanoma(18;0.0435)		406					A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	ENST00000397622.2	37	c.1217A>G	CCDS47712.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.718431	0.89205	.	.	ENSG00000146842	ENST00000397622;ENST00000462753	T;T	0.39592	1.07;1.07	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	M	0.74647	2.275	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.67189	-0.5733	10	0.59425	D	0.04	-24.8038	15.2954	0.73902	0.0:0.0:0.0:1.0	.	406	Q96SK2	TM209_HUMAN	S	406;405	ENSP00000380747:N406S;ENSP00000419697:N405S	ENSP00000380747:N406S	N	-	2	0	TMEM209	129605507	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	7.381000	0.79718	2.198000	0.70561	0.477000	0.44152	AAT		0.353	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842		5	20	0	0	0	1	0	5	20				
UBE4B	10277	broad.mit.edu	37	1	10186877	10186877	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:10186877T>C	ENST00000253251.8	+	10	2032	c.1193T>C	c.(1192-1194)cTg>cCg	p.L398P	UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000343090.6_Missense_Mutation_p.L527P|UBE4B_ENST00000377157.3_Missense_Mutation_p.L282P					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTACAAGGCCTGGCTCTTGCT	0.348																																						ENST00000377157.3																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(844-846)cTg>cCg		ubiquitination factor E4B							93.0	94.0	94.0					1																	10186877		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10186877T>C	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1193T>C	1.37:g.10186877T>C	ENSP00000253251:p.Leu398Pro					UBE4B_ENST00000343090.6_Missense_Mutation_p.L527P|UBE4B_ENST00000253251.8_Missense_Mutation_p.L398P|UBE4B_ENST00000475795.1_3'UTR	p.L282P	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	10	1906	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	527						Missense_Mutation	SNP	ENST00000253251.8	37	c.845T>C	CCDS110.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796616	0.90453	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.54675	0.56;0.56;0.59	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.71508	0.3348	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.74601	-0.3611	10	0.87932	D	0	-16.721	16.1435	0.81544	0.0:0.0:0.0:1.0	.	527;398	O95155;O95155-2	UBE4B_HUMAN;.	P	398;282;527	ENSP00000253251:L398P;ENSP00000366362:L282P;ENSP00000343001:L527P	ENSP00000253251:L398P	L	+	2	0	UBE4B	10109464	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.661000	0.83786	2.212000	0.71576	0.528000	0.53228	CTG		0.348	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		8	66	0	0	0	1	0	8	66				
KIF16B	55614	broad.mit.edu	37	20	16360454	16360454	+	Silent	SNP	G	G	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr20:16360454G>A	ENST00000354981.2	-	19	2350	c.2193C>T	c.(2191-2193)gaC>gaT	p.D731D	KIF16B_ENST00000355755.3_Silent_p.D731D|KIF16B_ENST00000408042.1_Silent_p.D731D|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	731	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTTGGAGCTGGTCCAGTTCTT	0.458																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2191-2193)gaC>gaT		kinesin family member 16B							160.0	148.0	152.0					20																	16360454		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16360454G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2193C>T	20.37:g.16360454G>A						KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.D731D|KIF16B_ENST00000355755.3_Silent_p.D731D	p.D731D	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	2350	-			731			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.2193C>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.389686	0.01185	.	.	ENSG00000089177	ENST00000450176	.	.	.	5.28	2.04	0.26737	.	.	.	.	.	T	0.44519	0.1297	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27054	-1.0085	4	.	.	.	.	2.9632	0.05899	0.086:0.2548:0.3857:0.2734	.	.	.	.	I	166	.	.	T	-	2	0	KIF16B	16308454	0.950000	0.32346	0.645000	0.29479	0.103000	0.19146	0.916000	0.28651	0.591000	0.29711	0.655000	0.94253	ACC		0.458	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		15	64	0	0	0	1	0	15	64				
SALL1	6299	broad.mit.edu	37	16	51175110	51175110	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:51175110C>A	ENST00000251020.4	-	2	1056	c.1023G>T	c.(1021-1023)atG>atT	p.M341I	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.M244I|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	341					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCAATATGTTCATATTGGGAG	0.537																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(730-732)atG>atT		spalt-like transcription factor 1							90.0	96.0	94.0					16																	51175110		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175110C>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1023G>T	16.37:g.51175110C>A	ENSP00000251020:p.Met341Ile					SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.M341I	p.M244I	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1163	-		all_cancers(37;0.0322)	341					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.732G>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	7.406	0.633679	0.14322	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.05649	3.41;3.43	4.39	-8.4	0.00965	.	0.593745	0.17672	N	0.165941	T	0.02156	0.0067	N	0.12182	0.205	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.33059	-0.9883	10	0.26408	T	0.33	0.8087	4.5657	0.12186	0.3553:0.4381:0.1271:0.0795	.	341	Q9NSC2	SALL1_HUMAN	I	341;244;305	ENSP00000251020:M341I;ENSP00000407914:M244I	ENSP00000251020:M341I	M	-	3	0	SALL1	49732611	0.052000	0.20516	0.000000	0.03702	0.904000	0.53231	-0.468000	0.06656	-1.089000	0.03073	0.313000	0.20887	ATG		0.537	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		9	92	1	0	1.11149e-13	1	1.18438e-13	9	92				
NAIP	4671	broad.mit.edu	37	5	70307189	70307189	+	Missense_Mutation	SNP	G	G	A	rs201023314	byFrequency	TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr5:70307189G>A	ENST00000517649.1	-	5	871	c.581C>T	c.(580-582)aCg>aTg	p.T194M	NAIP_ENST00000194097.4_Missense_Mutation_p.T194M|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.T194M|NAIP_ENST00000503719.2_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	194					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ACACTGTACCGTGTCCTGTTT	0.423													G|||	2	0.000399361	0.0	0.0029	5008	,	,		22514	0.0		0.0	False		,,,				2504	0.0					ENST00000517649.1																			0				central_nervous_system(1)	1						c.(580-582)aCg>aTg		NLR family, apoptosis inhibitory protein		G	MET/THR,	0,4404		0,0,2202	126.0	110.0	115.0		581,	1.1	0.0	5		115	2,8590		1,0,4295	yes	missense,intron	NAIP	NM_004536.2,NM_022892.1	81,	1,0,6497	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,	194/1404,	70307189	2,12994	2202	4296	6498	SO:0001583	missense	4671				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	g.chr5:70307189G>A	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.581C>T	5.37:g.70307189G>A	ENSP00000428657:p.Thr194Met					NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.T194M|NAIP_ENST00000508426.2_Missense_Mutation_p.T194M	p.T194M	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	5	871	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	194					B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	37	c.581C>T	CCDS4009.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	12.82	2.052315	0.36181	0.0	2.33E-4	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.72725	-0.68;-0.68;-0.68	2.99	1.09	0.20402	Baculoviral inhibition of apoptosis protein repeat (5);	.	.	.	.	T	0.76350	0.3975	L	0.41961	1.31	0.26662	N	0.971889	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.65726	-0.6098	9	0.49607	T	0.09	.	10.4466	0.44497	0.0:0.0:0.648:0.352	.	194;194	E7EQW0;Q13075	.;BIRC1_HUMAN	M	194	ENSP00000428657:T194M;ENSP00000443944:T194M;ENSP00000429545:T194M	ENSP00000443944:T194M	T	-	2	0	NAIP	70342945	0.012000	0.17670	0.005000	0.12908	0.027000	0.11550	-0.092000	0.11129	0.274000	0.22072	0.404000	0.27445	ACG		0.423	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		10	24	0	0	0	1	0	10	24				
PCLO	27445	broad.mit.edu	37	7	82764221	82764221	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr7:82764221C>A	ENST00000333891.9	-	3	2982	c.2645G>T	c.(2644-2646)cGa>cTa	p.R882L	PCLO_ENST00000423517.2_Missense_Mutation_p.R882L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R882L(2)|p.R828L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGCGGTAGGTCGTGGGCCAGG	0.517																																						ENST00000423517.2																			3	Substitution - Missense(3)	p.R882L(2)|p.R828L(1)	lung(3)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(2644-2646)cGa>cTa		piccolo presynaptic cytomatrix protein							204.0	204.0	204.0					7																	82764221		1991	4165	6156	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764221C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2645G>T	7.37:g.82764221C>A	ENSP00000334319:p.Arg882Leu					PCLO_ENST00000333891.8_Missense_Mutation_p.R882L	p.R882L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	2982	-			828			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2645G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043689	0.36085	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16597	2.33;2.34	5.93	4.95	0.65309	.	.	.	.	.	T	0.16811	0.0404	M	0.63428	1.95	0.80722	D	1	P;P	0.38767	0.646;0.646	B;B	0.35470	0.203;0.203	T	0.01988	-1.1234	9	0.87932	D	0	.	6.6861	0.23146	0.0:0.7265:0.0:0.2735	.	882;882	Q9Y6V0-5;Q9Y6V0-6	.;.	L	828;882;882	ENSP00000334319:R882L;ENSP00000388393:R882L	ENSP00000334319:R882L	R	-	2	0	PCLO	82602157	0.987000	0.35691	0.991000	0.47740	0.954000	0.61252	1.598000	0.36740	2.815000	0.96918	0.561000	0.74099	CGA		0.517	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	264	1	0	1.26484e-09	1	1.305e-09	6	264				
PTPRC	5788	broad.mit.edu	37	1	198703477	198703477	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:198703477G>C	ENST00000367376.2	+	22	2365	c.2194G>C	c.(2194-2196)Gat>Cat	p.D732H	PTPRC_ENST00000442510.2_Missense_Mutation_p.D734H|PTPRC_ENST00000348564.6_Missense_Mutation_p.D573H|PTPRC_ENST00000352140.3_Missense_Mutation_p.D684H|PTPRC_ENST00000594404.1_Missense_Mutation_p.D571H	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	732	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGAAACTGTTGATGATTTCTG	0.348																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(2194-2196)Gat>Cat		protein tyrosine phosphatase, receptor type, C							309.0	318.0	315.0					1																	198703477		2203	4299	6502	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198703477G>C	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2194G>C	1.37:g.198703477G>C	ENSP00000356346:p.Asp732His					PTPRC_ENST00000348564.6_Missense_Mutation_p.D573H|PTPRC_ENST00000442510.2_Missense_Mutation_p.D734H|PTPRC_ENST00000352140.3_Missense_Mutation_p.D684H|PTPRC_ENST00000594404.1_Missense_Mutation_p.D571H	p.D732H	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			22	2365	+			732			Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2194G>C		.	.	.	.	.	.	.	.	.	.	G	16.94	3.259828	0.59321	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000442510;ENST00000367367;ENST00000348564	D	0.83992	-1.79	5.73	4.81	0.61882	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.48286	D	0.000185	D	0.85239	0.5651	L	0.38649	1.16	0.45427	D	0.998409	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.985;0.992;0.992;0.992	D	0.85249	0.1043	10	0.66056	D	0.02	.	9.9657	0.41723	0.0703:0.0:0.7943:0.1355	.	668;573;684;732	F5GXZ3;B1ALS3;E9PC28;P08575	.;.;.;PTPRC_HUMAN	H	734;668;684;684;732;666;571	ENSP00000193532:D684H	ENSP00000306782:D571H	D	+	1	0	PTPRC	196970100	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	2.506000	0.45433	2.698000	0.92095	0.591000	0.81541	GAT		0.348	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				14	401	0	0	0	1	0	14	401				
PXDNL	137902	broad.mit.edu	37	8	52321583	52321583	+	Silent	SNP	G	G	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr8:52321583G>A	ENST00000356297.4	-	17	2701	c.2601C>T	c.(2599-2601)ccC>ccT	p.P867P	PXDNL_ENST00000543296.1_Silent_p.P867P	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	867					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGCACACGCGGGGCTGGAGC	0.647																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(2599-2601)ccC>ccT		peroxidasin homolog (Drosophila)-like							24.0	28.0	27.0					8																	52321583		2012	4156	6168	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321583G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2601C>T	8.37:g.52321583G>A						PXDNL_ENST00000543296.1_Silent_p.P867P	p.P867P	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	2701	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	867					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.2601C>T	CCDS47855.1																																																																																				0.647	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		12	22	0	0	0	1	0	12	22				
TIE1	7075	broad.mit.edu	37	1	43779603	43779603	+	Silent	SNP	G	G	T	rs150268802		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:43779603G>T	ENST00000372476.3	+	14	2452	c.2373G>T	c.(2371-2373)ctG>ctT	p.L791L	TIE1_ENST00000433781.2_Silent_p.L436L|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	791					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAAGCTGCCTGCATCGGAGAC	0.612																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2371-2373)ctG>ctT		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							74.0	66.0	69.0					1																	43779603		2203	4300	6503	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43779603G>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2373G>T	1.37:g.43779603G>T						TIE1_ENST00000433781.2_Silent_p.L436L|TIE1_ENST00000473014.1_3'UTR	p.L791L	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			14	2452	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	791					B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.2373G>T	CCDS482.1																																																																																				0.612	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		6	37	1	0	1.26484e-09	1	1.305e-09	6	37				
WNT1	7471	broad.mit.edu	37	12	49374247	49374247	+	Silent	SNP	C	C	T			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr12:49374247C>T	ENST00000293549.3	+	3	435	c.399C>T	c.(397-399)gcC>gcT	p.A133A		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	133					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		TCACCTCCGCCGGGGTCACCC	0.682																																						ENST00000293549.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(397-399)gcC>gcT		wingless-type MMTV integration site family, member 1							37.0	35.0	36.0					12																	49374247		2203	4300	6503	SO:0001819	synonymous_variant	7471				brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	g.chr12:49374247C>T	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.399C>T	12.37:g.49374247C>T							p.A133A	NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.244)	3	435	+			133					Q5U0N2	Silent	SNP	ENST00000293549.3	37	c.399C>T	CCDS8776.1																																																																																				0.682	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			11	36	0	0	0	1	0	11	36				
DNAH10	196385	broad.mit.edu	37	12	124289442	124289442	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr12:124289442C>T	ENST00000409039.3	+	17	2513	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	830	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)		CCACATGGTCCGGTGGTATCT	0.532																																						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.(2488-2490)Cgg>Tgg		dynein, axonemal, heavy chain 10							120.0	116.0	118.0					12																	124289442		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124289442C>T	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.2488C>T	12.37:g.124289442C>T	ENSP00000386770:p.Arg830Trp						p.R830W	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)	17	2513	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		830			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.2488C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	c	16.59	3.166596	0.57476	.	.	ENSG00000197653	ENST00000409039	T	0.23950	1.88	5.42	-3.16	0.05217	.	0.000000	0.50627	D	0.000112	T	0.49115	0.1538	M	0.77616	2.38	0.09310	N	0.999999	D;D;D	0.89917	1.0;0.999;0.997	D;D;P	0.75020	0.985;0.973;0.821	T	0.55988	-0.8053	10	0.62326	D	0.03	.	18.9919	0.92796	0.4602:0.5398:0.0:0.0	.	830;705;830	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	W	830	ENSP00000386770:R830W	ENSP00000386770:R830W	R	+	1	2	DNAH10	122855395	0.064000	0.20934	0.762000	0.31397	0.706000	0.40770	0.634000	0.24614	-0.877000	0.04012	-0.233000	0.12211	CGG		0.532	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			6	131	0	0	0	1	0	6	131				
FAM73B	84895	broad.mit.edu	37	9	131831378	131831378	+	Silent	SNP	G	G	A	rs201932397		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr9:131831378G>A	ENST00000358369.4	+	14	1654	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S	FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	476					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CTTGCTGGTCGGTCCTGAAAG	0.647											OREG0003928	type=REGULATORY REGION|Gene=FAM73B|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	1	0.000199681	0.0008	0.0	5008	,	,		17580	0.0		0.0	False		,,,				2504	0.0					ENST00000358369.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						c.(1426-1428)tcG>tcA		family with sequence similarity 73, member B							120.0	126.0	124.0					9																	131831378		2203	4300	6503	SO:0001819	synonymous_variant	84895					integral to membrane		g.chr9:131831378G>A	AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1428G>A	9.37:g.131831378G>A			OREG0003928	type=REGULATORY REGION|Gene=FAM73B|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1590	FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	p.S476S	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN			14	1654	+			476					Q8NBM3|Q8TEJ6|Q969E6	Silent	SNP	ENST00000358369.4	37	c.1428G>A	CCDS6917.1																																																																																				0.647	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	NM_032809		5	177	0	0	0	1	0	5	177				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	31	0	0	0	1	0	3	31				
ARMC5	79798	broad.mit.edu	37	16	31473498	31473498	+	Silent	SNP	G	G	A	rs181006627	byFrequency	TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:31473498G>A	ENST00000563544.1	+	4	1176	c.630G>A	c.(628-630)tcG>tcA	p.S210S	ARMC5_ENST00000538189.1_Silent_p.S242S|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000268314.4_Silent_p.S210S|ARMC5_ENST00000457010.2_Silent_p.S210S|ARMC5_ENST00000408912.3_Silent_p.S305S|ARMC5_ENST00000412665.2_Silent_p.S46S			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	210										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCAGGACTCGCAGTGCCTAC	0.647													g|||	2	0.000399361	0.0	0.0	5008	,	,		19278	0.001		0.001	False		,,,				2504	0.0					ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(628-630)tcG>tcA		armadillo repeat containing 5							73.0	80.0	77.0					16																	31473498		2170	4265	6435	SO:0001819	synonymous_variant	79798						binding	g.chr16:31473498G>A	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.630G>A	16.37:g.31473498G>A						ARMC5_ENST00000412665.2_Silent_p.S46S|ARMC5_ENST00000408912.3_Silent_p.S305S|ARMC5_ENST00000538189.1_Silent_p.S242S|ARMC5_ENST00000563544.1_Silent_p.S210S|ARMC5_ENST00000268314.4_Silent_p.S210S	p.S210S	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			3	1331	+			210					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.630G>A	CCDS45472.1																																																																																				0.647	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		4	57	0	0	0	1	0	4	57				
FAM151A	338094	broad.mit.edu	37	1	55077406	55077406	+	Silent	SNP	C	C	T	rs569041271		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:55077406C>T	ENST00000302250.2	-	6	973	c.813G>A	c.(811-813)acG>acA	p.T271T	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Silent_p.T271T	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	271						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCTGCCACAGCGTCAGGCTGT	0.597																																						ENST00000302250.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(811-813)acG>acA		family with sequence similarity 151, member A							86.0	80.0	82.0					1																	55077406		2203	4300	6503	SO:0001819	synonymous_variant	338094					integral to membrane		g.chr1:55077406C>T	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.813G>A	1.37:g.55077406C>T						FAM151A_ENST00000371304.2_Silent_p.T271T|ACOT11_ENST00000371316.3_Intron	p.T271T	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			6	973	-			271					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Silent	SNP	ENST00000302250.2	37	c.813G>A	CCDS594.1																																																																																				0.597	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		8	59	0	0	0	1	0	8	59				
SH3BGRL2	83699	broad.mit.edu	37	6	80383442	80383442	+	Missense_Mutation	SNP	G	G	A	rs371878206		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr6:80383442G>A	ENST00000369838.4	+	2	336	c.157G>A	c.(157-159)Gtc>Atc	p.V53I		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamate-rich protein like 2	53						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		GTACAAAAACGTCCCCCCGGA	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17917	0.0		0.0	False		,,,				2504	0.0					ENST00000369838.4																			0				large_intestine(2)|lung(3)	5						c.(157-159)Gtc>Atc		SH3 domain binding glutamic acid-rich protein like 2		G	ILE/VAL	0,4406		0,0,2203	136.0	140.0	139.0		157	1.2	0.1	6		139	2,8598	2.2+/-6.3	0,2,4298	no	missense	SH3BGRL2	NM_031469.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	53/108	80383442	2,13004	2203	4300	6503	SO:0001583	missense	83699					nucleus	SH3 domain binding	g.chr6:80383442G>A	AJ297972	CCDS4991.1	6q14.1	2014-02-19	2014-02-19		ENSG00000198478	ENSG00000198478			15567	protein-coding gene	gene with protein product		615678	"""SH3 domain binding glutamic acid-rich protein like 2"""			12095696	Standard	NM_031469		Approved		uc003piz.1	Q9UJC5	OTTHUMG00000015081	ENST00000369838.4:c.157G>A	6.37:g.80383442G>A	ENSP00000358853:p.Val53Ile						p.V53I	NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0278)	2	336	+		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)	53					A8MQU2|Q2VPC2|Q5VV96|Q6NSK8|Q6P9E8|Q7Z734|Q8IWD3|Q9BPY5	Missense_Mutation	SNP	ENST00000369838.4	37	c.157G>A	CCDS4991.1	.	.	.	.	.	.	.	.	.	.	G	2.644	-0.283586	0.05642	0.0	2.33E-4	ENSG00000198478	ENST00000369838	T	0.76968	-1.06	5.75	1.18	0.20946	Thioredoxin-like fold (2);	0.163302	0.56097	N	0.000036	T	0.24160	0.0585	N	0.02685	-0.53	0.24184	N	0.995577	B	0.02656	0.0	B	0.01281	0.0	T	0.40308	-0.9570	10	0.09084	T	0.74	-5.8075	9.0299	0.36252	0.7767:0.0:0.2233:0.0	.	53	Q9UJC5	SH3L2_HUMAN	I	53	ENSP00000358853:V53I	ENSP00000358853:V53I	V	+	1	0	SH3BGRL2	80440161	1.000000	0.71417	0.126000	0.21872	0.009000	0.06853	2.374000	0.44274	-0.020000	0.14032	0.650000	0.86243	GTC		0.473	SH3BGRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041309.1			25	85	0	0	0	1	0	25	85				
SLC9C2	284525	broad.mit.edu	37	1	173556842	173556842	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:173556842A>G	ENST00000367714.3	-	5	907	c.485T>C	c.(484-486)aTa>aCa	p.I162T	SLC9C2_ENST00000536496.1_Missense_Mutation_p.I60T|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	162					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AAGAGGATCTATAATGCCAAG	0.318																																						ENST00000367714.3																			0											c.(484-486)aTa>aCa		solute carrier family 9, member C2 (putative)							105.0	109.0	108.0					1																	173556842		2203	4300	6503	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173556842A>G	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.485T>C	1.37:g.173556842A>G	ENSP00000356687:p.Ile162Thr					RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.I60T	p.I162T	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			5	907	-			162					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.485T>C	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.432020	0.00184	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.08634	3.07;3.07	5.59	-0.713	0.11223	Cation/H+ exchanger (1);	0.669528	0.14149	N	0.338179	T	0.00412	0.0013	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40496	-0.9560	10	0.02654	T	1	-5.6185	8.7044	0.34345	0.5232:0.0:0.4768:0.0	.	162	Q5TAH2	S9A11_HUMAN	T	162;60	ENSP00000356687:I162T;ENSP00000445437:I60T	ENSP00000356687:I162T	I	-	2	0	SLC9A11	171823465	0.852000	0.29690	0.002000	0.10522	0.031000	0.12232	0.397000	0.20883	-0.406000	0.07588	-0.202000	0.12741	ATA		0.318	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		6	66	0	0	0	1	0	6	66				
TEX11	56159	broad.mit.edu	37	X	69843845	69843845	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chrX:69843845C>T	ENST00000395889.2	-	21	1906	c.1751G>A	c.(1750-1752)cGt>cAt	p.R584H	TEX11_ENST00000374333.2_Missense_Mutation_p.R569H|TEX11_ENST00000374320.2_Missense_Mutation_p.R259H|TEX11_ENST00000344304.3_Missense_Mutation_p.R584H	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	584					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AAGAAGAAAACGAAGCAAACA	0.323																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(1750-1752)cGt>cAt		testis expressed 11							92.0	89.0	90.0					X																	69843845		2203	4299	6502	SO:0001583	missense	0						protein binding	g.chrX:69843845C>T	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1751G>A	X.37:g.69843845C>T	ENSP00000379226:p.Arg584His					TEX11_ENST00000344304.3_Missense_Mutation_p.R584H|TEX11_ENST00000374333.2_Missense_Mutation_p.R569H|TEX11_ENST00000374320.2_Missense_Mutation_p.R259H	p.R584H	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			21	1906	-	Renal(35;0.156)		584					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.1751G>A	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	0.887	-0.726841	0.03158	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	3.78	0.951	0.19579	.	0.242826	0.35124	N	0.003425	T	0.37183	0.0994	L	0.41961	1.31	0.09310	N	1	B;B	0.31100	0.308;0.205	B;B	0.30179	0.112;0.052	T	0.15665	-1.0429	9	.	.	.	.	6.1154	0.20124	0.0:0.635:0.0:0.365	.	569;584	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	H	569;584;259;584	ENSP00000363453:R569H;ENSP00000379226:R584H;ENSP00000363440:R259H;ENSP00000340995:R584H	.	R	-	2	0	TEX11	69760570	0.158000	0.22850	0.001000	0.08648	0.003000	0.03518	-0.129000	0.10515	-0.039000	0.13602	-1.167000	0.01749	CGT		0.323	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			21	23	0	0	0	1	0	21	23				
PER3	8863	broad.mit.edu	37	1	7848219	7848219	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:7848219G>C	ENST00000361923.2	+	4	680	c.505G>C	c.(505-507)Gac>Cac	p.D169H	PER3_ENST00000377541.1_Missense_Mutation_p.D169H|PER3_ENST00000377532.3_Missense_Mutation_p.D169H	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	169	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TCACTTTGTTGACCTGCTTGC	0.468																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(505-507)Gac>Cac		period circadian clock 3							147.0	141.0	143.0					1																	7848219		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7848219G>C	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.505G>C	1.37:g.7848219G>C	ENSP00000355031:p.Asp169His					PER3_ENST00000361923.2_Missense_Mutation_p.D169H|PER3_ENST00000377541.1_Missense_Mutation_p.D169H	p.D169H			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	4	729	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	169			PAS 1.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.505G>C	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.393599	0.83011	.	.	ENSG00000049246	ENST00000377541;ENST00000377532;ENST00000361923	T;T;T	0.38401	1.14;2.62;2.64	5.25	4.34	0.51931	PAS (1);	0.057943	0.64402	D	0.000002	T	0.43919	0.1269	L	0.29908	0.895	0.43830	D	0.996403	D;D;D;D	0.69078	0.991;0.994;0.997;0.991	P;P;D;P	0.63597	0.694;0.825;0.916;0.694	T	0.39981	-0.9587	10	0.72032	D	0.01	.	12.3622	0.55209	0.0811:0.0:0.9189:0.0	.	169;169;169;169	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	H	169	ENSP00000366764:D169H;ENSP00000366755:D169H;ENSP00000355031:D169H	ENSP00000355031:D169H	D	+	1	0	PER3	7770806	1.000000	0.71417	0.905000	0.35620	0.916000	0.54674	5.784000	0.68990	2.459000	0.83118	0.650000	0.86243	GAC		0.468	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		14	54	0	0	0	1	0	14	54				
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458660	90458660	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr2:90458660C>A	ENST00000603238.1	+	2	336	c.336C>A	c.(334-336)gaC>gaA	p.D112E																								AACAGAGTGACAGTACCCCTC	0.522																																						ENST00000603238.1																			0											c.(334-336)gaC>gaA																																						SO:0001583	missense	0							g.chr2:90458660C>A																												ENST00000603238.1:c.336C>A	2.37:g.90458660C>A	ENSP00000474044:p.Asp112Glu						p.112_112insE							2	336	+									Missense_Mutation	SNP	ENST00000603238.1	37	c.336C>A																																																																																					0.522	CH17-132F21.1-001	PUTATIVE	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468882.1			20	446	1	0	1.55795e-14	1	1.68777e-14	20	446				
HECW1	23072	broad.mit.edu	37	7	43546798	43546798	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr7:43546798C>T	ENST00000395891.2	+	22	4299	c.3694C>T	c.(3694-3696)Cgc>Tgc	p.R1232C	AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Missense_Mutation_p.R1198C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1232					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGCCAAGCTCCGCAATTTCTA	0.493																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(3694-3696)Cgc>Tgc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							99.0	104.0	103.0					7																	43546798		1842	4090	5932	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43546798C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3694C>T	7.37:g.43546798C>T	ENSP00000379228:p.Arg1232Cys					HECW1_ENST00000453890.1_Missense_Mutation_p.R1198C	p.R1232C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			22	4299	+			1232					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.3694C>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850284	0.71719	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.85773	-2.03;-2.03	5.9	4.95	0.65309	HECT (1);	0.047711	0.85682	D	0.000000	D	0.90899	0.7140	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.91368	0.5117	10	0.87932	D	0	.	15.6378	0.76970	0.2209:0.7791:0.0:0.0	.	1198;1232	B4DH42;Q76N89	.;HECW1_HUMAN	C	1232;1198;1232	ENSP00000379228:R1232C;ENSP00000407774:R1198C	ENSP00000265522:R1232C	R	+	1	0	HECW1	43513323	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	1.042000	0.30303	2.802000	0.96397	0.542000	0.68232	CGC		0.493	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		11	56	0	0	0	1	0	11	56				
TFAP2B	7021	broad.mit.edu	37	6	50791238	50791238	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr6:50791238C>T	ENST00000393655.3	+	2	369	c.200C>T	c.(199-201)cCg>cTg	p.P67L	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000263046.4_Missense_Mutation_p.P76L	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	67	Gln/Pro-rich (transactivation domain).				aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GACTTCCAGCCGCCCTACTTC	0.692																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(226-228)cCg>cTg		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							43.0	49.0	47.0					6																	50791238		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50791238C>T	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.200C>T	6.37:g.50791238C>T	ENSP00000377265:p.Pro67Leu					TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000393655.3_Missense_Mutation_p.P67L	p.P76L			Q92481	AP2B_HUMAN			3	393	+	Lung NSC(77;0.156)		67			Gln/Pro-rich (transactivation domain).		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.227C>T	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751139	0.89753	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	D;D;D	0.90676	-2.71;-2.71;-2.71	5.27	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.86623	0.5977	M	0.85462	2.755	0.80722	D	1	P	0.40638	0.725	B	0.31686	0.134	D	0.88418	0.3026	10	0.87932	D	0	-6.6477	15.2771	0.73750	0.1414:0.8586:0.0:0.0	.	67	Q92481	AP2B_HUMAN	L	67;65;76	ENSP00000377265:P67L;ENSP00000342252:P65L;ENSP00000263046:P76L	ENSP00000263046:P76L	P	+	2	0	TFAP2B	50899197	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.987000	0.70571	1.212000	0.43366	0.563000	0.77884	CCG		0.692	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		8	27	0	0	0	1	0	8	27				
LAMB3	3914	broad.mit.edu	37	1	209804013	209804013	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:209804013T>G	ENST00000356082.4	-	9	1024	c.890A>C	c.(889-891)tAc>tCc	p.Y297S	LAMB3_ENST00000367030.3_Missense_Mutation_p.Y297S|LAMB3_ENST00000391911.1_Missense_Mutation_p.Y297S	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	297	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCGGTTGTTGTAGAAGGGTGC	0.612																																						ENST00000391911.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(889-891)tAc>tCc		laminin, beta 3							58.0	58.0	58.0					1																	209804013		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209804013T>G	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.890A>C	1.37:g.209804013T>G	ENSP00000348384:p.Tyr297Ser					LAMB3_ENST00000367030.3_Missense_Mutation_p.Y297S|LAMB3_ENST00000356082.4_Missense_Mutation_p.Y297S	p.Y297S	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	8	1279	-			297			Laminin EGF-like 1.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.890A>C	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525786	0.64860	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.72394	-0.65;-0.65;-0.65	4.95	4.95	0.65309	EGF-like, laminin (4);	0.137456	0.49916	D	0.000134	D	0.84786	0.5549	H	0.96080	3.765	0.49798	D	0.999829	D;P	0.54601	0.967;0.942	P;P	0.54759	0.76;0.76	D	0.88400	0.3014	10	0.87932	D	0	.	9.9787	0.41800	0.1511:0.0:0.0:0.8489	.	297;297	B4DL55;Q13751	.;LAMB3_HUMAN	S	297	ENSP00000375778:Y297S;ENSP00000348384:Y297S;ENSP00000355997:Y297S	ENSP00000348384:Y297S	Y	-	2	0	LAMB3	207870636	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.598000	0.36740	2.004000	0.58718	0.529000	0.55759	TAC		0.612	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		4	32	0	0	0	1	0	4	32				
KLHDC4	54758	broad.mit.edu	37	16	87760499	87760499	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:87760499A>G	ENST00000270583.5	-	7	689	c.631T>C	c.(631-633)Ttt>Ctt	p.F211L	KLHDC4_ENST00000347925.5_Missense_Mutation_p.F180L|KLHDC4_ENST00000353170.5_Missense_Mutation_p.F154L|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	211										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCCAGATTAAAGGCATACACG	0.532																																						ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(631-633)Ttt>Ctt		kelch domain containing 4							98.0	94.0	96.0					16																	87760499		2198	4300	6498	SO:0001583	missense	54758							g.chr16:87760499A>G	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.631T>C	16.37:g.87760499A>G	ENSP00000270583:p.Phe211Leu					KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.F154L|KLHDC4_ENST00000347925.5_Missense_Mutation_p.F180L	p.F211L	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	7	689	-			211					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	c.631T>C	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259527	0.80246	.	.	ENSG00000104731	ENST00000270583;ENST00000316853;ENST00000347925;ENST00000353170	T;T;T	0.69685	-0.42;-0.42;-0.42	5.69	5.69	0.88448	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.70928	0.3280	L	0.28608	0.87	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;0.998;0.942	D;D;D;B	0.87578	0.998;0.992;0.972;0.443	T	0.65853	-0.6067	10	0.14252	T	0.57	-14.4099	15.135	0.72558	1.0:0.0:0.0:0.0	.	30;154;180;211	Q9UF94;Q8TBB5-2;Q8TBB5-3;Q8TBB5	.;.;.;KLDC4_HUMAN	L	211;30;180;154	ENSP00000270583:F211L;ENSP00000325717:F180L;ENSP00000262530:F154L	ENSP00000270583:F211L	F	-	1	0	KLHDC4	86318000	1.000000	0.71417	0.917000	0.36280	0.240000	0.25518	8.432000	0.90288	2.163000	0.67991	0.533000	0.62120	TTT		0.532	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		9	29	0	0	0	1	0	9	29				
SERPING1	710	broad.mit.edu	37	11	57367489	57367489	+	Silent	SNP	C	C	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr11:57367489C>A	ENST00000278407.4	+	3	416	c.189C>A	c.(187-189)tcC>tcA	p.S63S	SERPING1_ENST00000378323.4_Silent_p.S68S|SERPING1_ENST00000378324.2_Silent_p.S11S|SERPING1_ENST00000340687.6_Silent_p.S63S|SERPING1_ENST00000403558.1_Silent_p.S97S	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	63					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TGGAGGTTTCCAGCTTGCCGA	0.512																																						ENST00000403558.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						c.(289-291)tcC>tcA		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1							252.0	236.0	241.0					11																	57367489		2201	4296	6497	SO:0001819	synonymous_variant	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57367489C>A	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.189C>A	11.37:g.57367489C>A						SERPING1_ENST00000378323.4_Silent_p.S68S|SERPING1_ENST00000378324.2_Silent_p.S11S|SERPING1_ENST00000340687.6_Silent_p.S63S|SERPING1_ENST00000278407.4_Silent_p.S63S	p.S97S	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN			2	657	+			63		Missing (in HAE; type 2).	7 X 4 AA tandem repeats of [QE]-P-T-[TQ].		A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Silent	SNP	ENST00000278407.4	37	c.291C>A	CCDS7962.1																																																																																				0.512	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		7	36	1	0	0.00198382	1	0.00198382	7	36				
COG7	91949	broad.mit.edu	37	16	23417460	23417460	+	Silent	SNP	A	A	G			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:23417460A>G	ENST00000307149.5	-	12	1784	c.1599T>C	c.(1597-1599)aaT>aaC	p.N533N		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	533					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TCTGGAGGTAATTATATTCTT	0.423																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(1597-1599)aaT>aaC		component of oligomeric golgi complex 7							120.0	125.0	123.0					16																	23417460		2197	4300	6497	SO:0001819	synonymous_variant	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23417460A>G	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1599T>C	16.37:g.23417460A>G							p.N533N	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	12	1784	-			533					Q6UWU7	Silent	SNP	ENST00000307149.5	37	c.1599T>C	CCDS10610.1																																																																																				0.423	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			30	113	0	0	0	1	0	30	113				
KIAA0319L	79932	broad.mit.edu	37	1	35921839	35921839	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:35921839C>G	ENST00000325722.3	-	10	1665	c.1431G>C	c.(1429-1431)ttG>ttC	p.L477F	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_5'Flank	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	477	PKD 2. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTACTACAGTCAAGCTATCAG	0.473																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(1429-1431)ttG>ttC		KIAA0319-like							77.0	73.0	74.0					1																	35921839		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35921839C>G	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1431G>C	1.37:g.35921839C>G	ENSP00000318406:p.Leu477Phe					KIAA0319L_ENST00000485551.1_5'UTR	p.L477F	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			10	1665	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	477			PKD 2.		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.1431G>C	CCDS390.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053036	0.55218	.	.	ENSG00000142687	ENST00000325722;ENST00000426982;ENST00000440579	T;T;T	0.29655	1.56;1.56;1.56	5.29	2.36	0.29203	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (1);	0.000000	0.64402	D	0.000002	T	0.65698	0.2716	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.70245	-0.4925	10	0.87932	D	0	-6.234	9.1846	0.37163	0.0:0.6784:0.0:0.3216	.	477;477	Q8IZA0-2;Q8IZA0	.;K319L_HUMAN	F	477	ENSP00000318406:L477F;ENSP00000395883:L477F;ENSP00000407576:L477F	ENSP00000318406:L477F	L	-	3	2	KIAA0319L	35694426	0.998000	0.40836	1.000000	0.80357	0.978000	0.69477	0.578000	0.23773	0.310000	0.22990	-0.142000	0.14014	TTG		0.473	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		17	33	0	0	0	1	0	17	33				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	41	0	0	0	1	0	4	41				
GUCY2F	2986	broad.mit.edu	37	X	108641817	108641817	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chrX:108641817G>A	ENST00000218006.2	-	11	2527	c.2236C>T	c.(2236-2238)Cgg>Tgg	p.R746W		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	746	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GGGGTACCCCGGACCATCACT	0.542																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(2236-2238)Cgg>Tgg		guanylate cyclase 2F, retinal							104.0	85.0	92.0					X																	108641817		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108641817G>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2236C>T	X.37:g.108641817G>A	ENSP00000218006:p.Arg746Trp						p.R746W	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			11	2527	-			746			Protein kinase.		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.2236C>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937979	0.52972	.	.	ENSG00000101890	ENST00000218006	T	0.63255	-0.03	3.98	3.11	0.35812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059431	0.64402	N	0.000002	T	0.77818	0.4187	M	0.84846	2.72	0.52099	D	0.999946	D	0.89917	1.0	D	0.79784	0.993	T	0.79147	-0.1923	10	0.87932	D	0	.	8.9117	0.35557	0.1151:0.0:0.8849:0.0	.	746	P51841	GUC2F_HUMAN	W	746	ENSP00000218006:R746W	ENSP00000218006:R746W	R	-	1	2	GUCY2F	108528473	0.939000	0.31865	0.983000	0.44433	0.996000	0.88848	2.654000	0.46699	1.027000	0.39758	0.594000	0.82650	CGG		0.542	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		9	42	0	0	0	1	0	9	42				
SUPT5H	6829	broad.mit.edu	37	19	39964093	39964093	+	Silent	SNP	G	G	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr19:39964093G>A	ENST00000599117.1	+	26	2791	c.2424G>A	c.(2422-2424)ctG>ctA	p.L808L	SUPT5H_ENST00000402194.2_Silent_p.L804L|SUPT5H_ENST00000598725.1_Silent_p.L808L|SUPT5H_ENST00000359191.6_Silent_p.L804L|SUPT5H_ENST00000432763.2_Silent_p.L808L			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	808	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGACGCCCCTGCATGATGGCA	0.632																																						ENST00000599117.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(2422-2424)ctG>ctA		suppressor of Ty 5 homolog (S. cerevisiae)							82.0	80.0	81.0					19																	39964093		2203	4300	6503	SO:0001819	synonymous_variant	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39964093G>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2424G>A	19.37:g.39964093G>A						SUPT5H_ENST00000432763.2_Silent_p.L808L|SUPT5H_ENST00000402194.2_Silent_p.L804L|SUPT5H_ENST00000598725.1_Silent_p.L808L|SUPT5H_ENST00000359191.6_Silent_p.L804L	p.L808L			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		26	2791	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		808			9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.		O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	c.2424G>A	CCDS12536.1																																																																																				0.632	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		20	72	0	0	0	1	0	20	72				
DSCAM	1826	broad.mit.edu	37	21	41452117	41452117	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr21:41452117C>T	ENST00000400454.1	-	25	4859	c.4382G>A	c.(4381-4383)cGc>cAc	p.R1461H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1461	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCACTTATGCGCCCTGGGCC	0.468																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(4381-4383)cGc>cAc		Down syndrome cell adhesion molecule							159.0	150.0	153.0					21																	41452117		1872	4125	5997	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41452117C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4382G>A	21.37:g.41452117C>T	ENSP00000383303:p.Arg1461His						p.R1461H	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			25	4859	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1461			Fibronectin type-III 5.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.4382G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437548	0.62955	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.57436	0.4;0.4	5.04	5.04	0.67666	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65354	0.2683	L	0.39514	1.22	0.52501	D	0.999959	D	0.89917	1.0	D	0.87578	0.998	T	0.65557	-0.6139	10	0.46703	T	0.11	.	17.4011	0.87459	0.0:1.0:0.0:0.0	.	1461	O60469	DSCAM_HUMAN	H	1461;1213	ENSP00000383303:R1461H;ENSP00000385342:R1213H	ENSP00000383303:R1461H	R	-	2	0	DSCAM	40373987	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	7.699000	0.84547	2.338000	0.79540	0.563000	0.77884	CGC		0.468	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		4	98	0	0	0	1	0	4	98				
RBBP5	5929	broad.mit.edu	37	1	205068139	205068144	+	In_Frame_Del	DEL	ATCTTC	ATCTTC	-			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:205068139_205068144delATCTTC	ENST00000264515.6	-	10	1210_1215	c.1069_1074delGAAGAT	c.(1069-1074)gaagatdel	p.ED357del	RBBP5_ENST00000367164.1_In_Frame_Del_p.ED357del	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	357					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			GCTCACTCTTATCTTCATCTTCAATA	0.35																																						ENST00000264515.6																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1069-1074)del		retinoblastoma binding protein 5																																				SO:0001651	inframe_deletion	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205068139_205068144delATCTTC	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.1069_1074delGAAGAT	1.37:g.205068145_205068150delATCTTC	ENSP00000264515:p.Glu357_Asp358del					RBBP5_ENST00000367164.1_In_Frame_Del_p.ED357del	p.ED357del	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		10	1210_1215	-	Breast(84;0.0505)		357					A8K272|Q7Z6D8|Q8NDZ7	In_Frame_Del	DEL	ENST00000264515.6	37	c.1069_1074delGAAGAT	CCDS30983.1																																																																																				0.350	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		13	62						13	62	---	---	---	---
ANKRD36	375248	broad.mit.edu	37	2	97858738	97858738	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr2:97858738delT	ENST00000461153.2	+	38	2641	c.2397delT	c.(2395-2397)ggtfs	p.G799fs	ANKRD36_ENST00000420699.2_Frame_Shift_Del_p.G799fs			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	799										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ACGAGGAAGGTTCTGTTTTGA	0.313																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2395-2397)ggfs		ankyrin repeat domain 36							48.0	40.0	42.0					2																	97858738		692	1590	2282	SO:0001589	frameshift_variant	375248							g.chr2:97858738delT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2397delT	2.37:g.97858738delT	ENSP00000419530:p.Gly799fs					ANKRD36_ENST00000461153.2_Frame_Shift_Del_p.G799fs	p.G799fs	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			38	2641	+			799					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Frame_Shift_Del	DEL	ENST00000461153.2	37	c.2397delT	CCDS54379.1																																																																																				0.313	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			2	4						2	4	---	---	---	---
TMEM237	65062	broad.mit.edu	37	2	202496776	202496777	+	Frame_Shift_Ins	INS	-	-	T	rs80208774		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr2:202496776_202496777insT	ENST00000409883.2	-	7	666_667	c.550_551insA	c.(550-552)agcfs	p.S184fs	TMEM237_ENST00000409444.2_Frame_Shift_Ins_p.S176fs|TMEM237_ENST00000466839.1_5'Flank	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	184					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						CTACTTACGGCTTTTTTCCACA	0.376																																						ENST00000409444.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						c.(526-528)ccgfs		transmembrane protein 237																																				SO:0001589	frameshift_variant	65062					integral to membrane	protein binding	g.chr2:202496776_202496777insT	AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"""	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.551dupA	2.37:g.202496782_202496782dupT	ENSP00000386264:p.Ser184fs					TMEM237_ENST00000409883.2_Frame_Shift_Ins_p.P184fs	p.P176fs	NM_152388.3	NP_689601.2	Q96Q45	TM237_HUMAN			7	843_844	-			208					B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Frame_Shift_Ins	INS	ENST00000409883.2	37	c.526_527insA	CCDS46489.1																																																																																				0.376	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335753.1	NM_152388		21	116						21	116	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32522756	32522756	+	RNA	DEL	A	A	-	rs141838432		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr6:32522756delA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		GGACTAGGAGAAAAAAAGGTA	0.517																																						ENST00000411500.1																			0																																																			0							g.chr6:32522756delA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522756delA								NR_001298.1						0	458	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.517	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		9	28						9	28	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs25559|rs10665556	byFrequency	TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351														3178	0.634585	0.7088	0.611	5008	,	,		12379	0.8274		0.4284	False		,,,				2504	0.5644					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														0							g.chr12:31269189_31269190insATCAT																													12.37:g.31269189_31269190insATCAT														0	165	-									RNA	INS	ENST00000542490.1	37																																																																																						0.351	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			6	8						6	8	---	---	---	---
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-	rs552164906		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.(895-897)atfs		ADP-ribosylation factor GTPase activating protein 3							317.0	285.0	296.0					22																	43213780		2203	4300	6503	SO:0001589	frameshift_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43213780delT	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.896delA	22.37:g.43213780delT	ENSP00000263245:p.Asn299fs					ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs	p.N299fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			10	1115	-			299					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Frame_Shift_Del	DEL	ENST00000263245.5	37	c.896delA	CCDS14042.1																																																																																				0.363	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		7	191						7	191	---	---	---	---
