#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_match_norm_validation_allele1	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_tumor_sample
TTLL10	254173	broad.mit.edu	37	1	1120466	1120466	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:1120466G>C	ENST00000379290.1	+	13	1551	c.1378G>C	c.(1378-1380)Gac>Cac	p.D460H	TTLL10_ENST00000379288.3_Missense_Mutation_p.D387H|TTLL10_ENST00000379289.1_Missense_Mutation_p.D460H			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	460	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTCGCCAAGGACTGGGTCTT	0.632																																						uc001acy.2		NaN																	0				large_intestine(1)	1						c.(1378-1380)GAC>CAC		tubulin tyrosine ligase-like family, member 10							88.0	69.0	76.0					1																	1120466		2203	4300	6503	SO:0001583	missense	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1120466G>C	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.1378G>C	1.37:g.1120466G>C	ENSP00000368592:p.Asp460His					TTLL10_uc010nyg.1_Missense_Mutation_p.D460H|TTLL10_uc001acz.1_Missense_Mutation_p.D387H	p.D460H	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	13	1529	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	460			TTL.		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	ENST00000379290.1	37	c.1378G>C	CCDS44036.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299841	0.40694	.	.	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	T;T;T	0.16897	3.35;3.35;2.31	4.54	4.54	0.55810	.	.	.	.	.	T	0.45836	0.1362	M	0.84433	2.695	0.49687	D	0.999815	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.50381	-0.8835	9	0.52906	T	0.07	.	14.8224	0.70082	0.0:0.0:1.0:0.0	.	387;460	Q6ZVT0-3;Q6ZVT0	.;TTL10_HUMAN	H	460;460;387	ENSP00000368592:D460H;ENSP00000368591:D460H;ENSP00000368590:D387H	ENSP00000368590:D387H	D	+	1	0	TTLL10	1110329	1.000000	0.71417	0.939000	0.37840	0.773000	0.43773	8.646000	0.91053	2.372000	0.80975	0.563000	0.77884	GAC		0.632	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3		NM_153254		10	20	0	0	0	0.000978	0	10	20		
CHD5	26038	broad.mit.edu	37	1	6206323	6206323	+	Missense_Mutation	SNP	C	C	T	rs141210110		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:6206323C>T	ENST00000262450.3	-	11	1850	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GATGCCATAGCGGTAGAAGCG	0.607																																						uc001amb.1		NaN																	0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(1750-1752)CGC>CAC		chromodomain helicase DNA binding protein 5		C	HIS/ARG	0,4406		0,0,2203	146.0	145.0	145.0		1751	3.8	1.0	1	dbSNP_134	145	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CHD5	NM_015557.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	584/1955	6206323	2,13004	2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6206323C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1751G>A	1.37:g.6206323C>T	ENSP00000262450:p.Arg584His					CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA	p.R584H	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	11	1851	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	584					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.1751G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686569	0.88639	0.0	2.33E-4	ENSG00000116254	ENST00000262450;ENST00000378006	T	0.72725	-0.68	3.85	3.85	0.44370	Chromo domain-like (1);	0.000000	0.85682	D	0.000000	D	0.85414	0.5691	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.88972	0.3401	10	0.87932	D	0	-21.9232	16.3262	0.82983	0.0:1.0:0.0:0.0	.	584	Q8TDI0	CHD5_HUMAN	H	584;100	ENSP00000262450:R584H	ENSP00000262450:R584H	R	-	2	0	CHD5	6128910	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.558000	0.82253	2.138000	0.66242	0.462000	0.41574	CGC		0.607	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2		NM_015557		22	66	0	0	0	0.003954	0	22	66		
SPEN	23013	broad.mit.edu	37	1	16255003	16255003	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:16255003C>G	ENST00000375759.3	+	11	2472	c.2268C>G	c.(2266-2268)taC>taG	p.Y756*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	756	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGGCTTTACAGCCGATCCT	0.512																																						uc001axk.1		NaN																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(2266-2268)TAC>TAG		spen homolog, transcriptional regulator							63.0	64.0	64.0					1																	16255003		2203	4300	6503	SO:0001587	stop_gained	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255003C>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2268C>G	1.37:g.16255003C>G	ENSP00000364912:p.Tyr756*					SPEN_uc010obp.1_Nonsense_Mutation_p.Y715*	p.Y756*	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2472	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	756			Arg-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	ENST00000375759.3	37	c.2268C>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	37	6.375676	0.97515	.	.	ENSG00000065526	ENST00000375759	.	.	.	4.84	-2.07	0.07276	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5053	10.5083	0.44847	0.0:0.5774:0.0:0.4226	.	.	.	.	X	756	.	ENSP00000364912:Y756X	Y	+	3	2	SPEN	16127590	0.960000	0.32886	0.959000	0.39883	0.631000	0.37964	0.136000	0.15974	-0.617000	0.05664	-1.008000	0.02478	TAC		0.512	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001		27	65	0	0	0	0.004656	0	27	65		
ZBTB8A	653121	broad.mit.edu	37	1	33059171	33059171	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:33059171G>C	ENST00000373510.4	+	3	868	c.639G>C	c.(637-639)ttG>ttC	p.L213F	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.L213F|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						CCAAACATTTGAGATTGTCAC	0.403																																						uc001bvn.2		NaN																	0					0						c.(637-639)TTG>TTC		zinc finger and BTB domain containing 8A							93.0	85.0	88.0					1																	33059171		2203	4300	6503	SO:0001583	missense	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33059171G>C	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.639G>C	1.37:g.33059171G>C	ENSP00000362609:p.Leu213Phe					ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Missense_Mutation_p.L213F	p.L213F	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN			3	1124	+			213					Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.639G>C	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580430	0.28180	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.15718	2.43;2.4	5.05	3.16	0.36331	.	1.110020	0.06918	U	0.808829	T	0.14098	0.0341	L	0.27053	0.805	0.24052	N	0.996041	B;P	0.41265	0.306;0.744	B;B	0.39185	0.086;0.293	T	0.22836	-1.0205	10	0.46703	T	0.11	-2.8467	8.9754	0.35932	0.1709:0.0:0.8291:0.0	.	213;213	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	F	213	ENSP00000362609:L213F;ENSP00000317561:L213F	ENSP00000317561:L213F	L	+	3	2	ZBTB8A	32831758	0.992000	0.36948	1.000000	0.80357	0.993000	0.82548	1.531000	0.36018	1.283000	0.44513	-0.133000	0.14855	TTG		0.403	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2		NM_144621		12	38	0	0	0	0.000978	0	12	38		
ZSCAN20	7579	broad.mit.edu	37	1	33957212	33957212	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:33957212G>A	ENST00000361328.3	+	6	1507	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.E398K	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	452					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGAAATGGCAGAAGACTGTAA	0.577																																						uc001bxj.3		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1354-1356)GAA>AAA		zinc finger protein 31							116.0	130.0	126.0					1																	33957212		1959	4144	6103	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33957212G>A	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1354G>A	1.37:g.33957212G>A	ENSP00000355053:p.Glu452Lys					ZSCAN20_uc001bxk.2_Missense_Mutation_p.E398K|ZSCAN20_uc009vui.2_Missense_Mutation_p.E452K	p.E452K	NM_145238	NP_660281	P17040	ZSC20_HUMAN			6	1521	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	452					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.1354G>A	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902375	0.33628	.	.	ENSG00000121903	ENST00000373411;ENST00000326544;ENST00000373413;ENST00000361328;ENST00000401072	T	0.03065	4.06	5.34	4.42	0.53409	.	0.489229	0.20404	N	0.092992	T	0.08403	0.0209	M	0.81497	2.545	0.36306	D	0.857363	B;P;B	0.42296	0.253;0.775;0.164	B;B;B	0.39660	0.128;0.306;0.06	T	0.24764	-1.0151	10	0.39692	T	0.17	-6.2202	14.3272	0.66528	0.0:0.1492:0.8508:0.0	.	452;398;452	P17040-3;P17040-4;P17040	.;.;ZSC20_HUMAN	K	398;452;398;386;386	ENSP00000362512:E398K	ENSP00000324450:E452K	E	+	1	0	ZSCAN20	33729799	0.972000	0.33761	0.659000	0.29680	0.156000	0.22039	3.373000	0.52394	1.383000	0.46405	0.561000	0.74099	GAA		0.577	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2		NM_145238		32	55	0	0	0	0.002445	0	32	55		
C1orf94	84970	broad.mit.edu	37	1	34663406	34663406	+	Missense_Mutation	SNP	C	C	T	rs556951025		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:34663406C>T	ENST00000488417.1	+	2	1021	c.901C>T	c.(901-903)Cct>Tct	p.P301S	C1orf94_ENST00000373374.3_Missense_Mutation_p.P111S	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	301										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TCCTGCACGTCCTGACAAGCT	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19076	0.0		0.0	False		,,,				2504	0.0					uc001bxs.3		NaN																	0					0						c.(331-333)CCT>TCT		hypothetical protein LOC84970 isoform b							58.0	53.0	54.0					1																	34663406		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34663406C>T	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.901C>T	1.37:g.34663406C>T	ENSP00000435634:p.Pro301Ser					C1orf94_uc001bxt.2_Missense_Mutation_p.P301S	p.P111S	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN			2	730	+		Myeloproliferative disorder(586;0.0393)	111					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.331C>T	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	0.298	-0.975800	0.02215	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.26067	1.76;1.76	4.46	-3.64	0.04515	.	1.028630	0.07728	N	0.944695	T	0.13927	0.0337	L	0.31752	0.955	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.27905	-1.0060	10	0.37606	T	0.19	-23.464	1.583	0.02638	0.1383:0.3116:0.1355:0.4146	.	301	Q6P1W5	CA094_HUMAN	S	111;301	ENSP00000362472:P111S;ENSP00000435634:P301S	ENSP00000362472:P111S	P	+	1	0	C1orf94	34435993	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.205000	0.09411	-1.095000	0.03050	-1.593000	0.00842	CCT		0.612	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2		NM_032884		18	40	0	0	0	0.007413	0	18	40		
ARTN	9048	broad.mit.edu	37	1	44402240	44402240	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:44402240C>T	ENST00000372359.5	+	5	1248	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	ARTN_ENST00000438616.3_Missense_Mutation_p.R173C|ARTN_ENST00000498139.2_Missense_Mutation_p.R164C|ARTN_ENST00000414809.3_Missense_Mutation_p.R164C|ARTN_ENST00000372354.3_Missense_Mutation_p.R156C	NM_057091.2	NP_476432.2	Q5T4W7	ARTN_HUMAN	artemin	156					axon guidance (GO:0007411)|induction of positive chemotaxis (GO:0050930)|lymphocyte migration into lymphoid organs (GO:0097021)|neuroblast proliferation (GO:0007405)|peripheral nervous system development (GO:0007422)|Peyer's patch morphogenesis (GO:0061146)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)					Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CTCCTGCCGCCGCGCGCGCTC	0.781																																						uc001cks.2		NaN																	0					0						c.(466-468)CGC>TGC		neurotrophic factor artemin isoform 1 precursor							2.0	3.0	3.0					1																	44402240		1289	2844	4133	SO:0001583	missense	9048				axon guidance|neuroblast proliferation|signal transduction	extracellular region	growth factor activity	g.chr1:44402240C>T	AF109401	CCDS501.1, CCDS502.1	1p33-p32	2014-01-30			ENSG00000117407	ENSG00000117407		"""Endogenous ligands"""	727	protein-coding gene	gene with protein product	"""neublastin"", ""neurotrophic factor"""	603886				9883723	Standard	NM_057090		Approved	NBN, EVN, ENOVIN	uc001ckt.3	Q5T4W7	OTTHUMG00000007705	ENST00000372359.5:c.466C>T	1.37:g.44402240C>T	ENSP00000361434:p.Arg156Cys					ARTN_uc001ckv.2_Missense_Mutation_p.R164C|ARTN_uc001ckt.2_Missense_Mutation_p.R164C|ARTN_uc001cku.2_Missense_Mutation_p.R156C|ARTN_uc001ckw.2_Missense_Mutation_p.R173C	p.R156C	NM_057091	NP_476432	Q5T4W7	ARTN_HUMAN			5	1248	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	156					D3DPY1|D3DPY3|O95441|O96030|Q6P6A3	Missense_Mutation	SNP	ENST00000372359.5	37	c.466C>T	CCDS501.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859390	0.71834	.	.	ENSG00000117407	ENST00000372359;ENST00000414809;ENST00000498139;ENST00000372354;ENST00000438616	D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78	4.13	3.08	0.35506	Transforming growth factor-beta, C-terminal (3);	0.163547	0.39909	U	0.001228	D	0.85932	0.5812	L	0.43923	1.385	0.41272	D	0.986859	D;D;D	0.76494	0.998;0.999;0.999	P;P;D	0.64877	0.514;0.886;0.93	D	0.87399	0.2368	10	0.59425	D	0.04	-11.564	14.0082	0.64478	0.1626:0.8374:0.0:0.0	.	173;164;156	Q5T4W7-2;Q5T4W7-3;Q5T4W7	.;.;ARTN_HUMAN	C	156;164;164;156;173	ENSP00000361434:R156C;ENSP00000387435:R164C;ENSP00000436727:R164C;ENSP00000361429:R156C;ENSP00000391998:R173C	ENSP00000361429:R156C	R	+	1	0	ARTN	44174827	0.947000	0.32204	1.000000	0.80357	0.930000	0.56654	0.992000	0.29667	1.846000	0.53633	0.289000	0.19496	CGC		0.781	ARTN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000020713.2		NM_057090		4	4	0	0	0	0.000248	0	4	4		
PLK3	1263	broad.mit.edu	37	1	45269884	45269884	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:45269884T>G	ENST00000372201.4	+	11	1547	c.1308T>G	c.(1306-1308)tgT>tgG	p.C436W	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	436					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CAGCCCTTTGTGCTCTGAGAA	0.552																																						uc001cmn.2		NaN																	0					0						c.(1306-1308)TGT>TGG		polo-like kinase 3							140.0	130.0	133.0					1																	45269884		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45269884T>G	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1308T>G	1.37:g.45269884T>G	ENSP00000361275:p.Cys436Trp					PLK3_uc001cmo.2_RNA	p.C436W	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN			11	1408	+	Acute lymphoblastic leukemia(166;0.155)		436					Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1308T>G	CCDS515.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054602	0.36277	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.13538	2.58	4.55	3.41	0.39046	.	.	.	.	.	T	0.13415	0.0325	L	0.54323	1.7	0.43959	D	0.99663	D	0.52996	0.957	P	0.45232	0.474	T	0.08722	-1.0708	9	0.66056	D	0.02	-8.5203	1.8621	0.03191	0.1534:0.0934:0.1823:0.5709	.	436	Q9H4B4	PLK3_HUMAN	W	436;411	ENSP00000361275:C436W	ENSP00000361275:C436W	C	+	3	2	PLK3	45042471	0.998000	0.40836	1.000000	0.80357	0.930000	0.56654	0.391000	0.20784	0.778000	0.33520	0.482000	0.46254	TGT		0.552	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1		NM_004073		19	35	0	0	0	0.006122	0	19	35		
DNAJC6	9829	broad.mit.edu	37	1	65874363	65874363	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:65874363C>G	ENST00000395325.3	+	17	2517	c.2360C>G	c.(2359-2361)tCt>tGt	p.S787C	DNAJC6_ENST00000371069.4_Missense_Mutation_p.S844C|DNAJC6_ENST00000263441.7_Missense_Mutation_p.S774C	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	787					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GACCTACTCTCTGGTCAAGGT	0.368																																						uc001dcd.1		NaN																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(2359-2361)TCT>TGT		DnaJ (Hsp40) homolog, subfamily C, member 6							91.0	95.0	93.0					1																	65874363		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65874363C>G	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.2360C>G	1.37:g.65874363C>G	ENSP00000378735:p.Ser787Cys					DNAJC6_uc010opc.1_Missense_Mutation_p.S774C|DNAJC6_uc001dce.1_Missense_Mutation_p.S844C	p.S787C	NM_014787	NP_055602	O75061	AUXI_HUMAN			17	2524	+			787					B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.2360C>G	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565508	0.86439	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	T;T;T	0.25912	1.77;1.77;1.77	5.37	5.37	0.77165	Heat shock protein DnaJ, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	L	0.54323	1.7	0.80722	D	1	B;B	0.26002	0.135;0.139	B;B	0.37304	0.246;0.176	T	0.05386	-1.0888	10	0.59425	D	0.04	.	19.3071	0.94167	0.0:1.0:0.0:0.0	.	844;787	O75061-2;O75061	.;AUXI_HUMAN	C	774;787;844	ENSP00000263441:S774C;ENSP00000378735:S787C;ENSP00000360108:S844C	ENSP00000263441:S774C	S	+	2	0	DNAJC6	65646951	1.000000	0.71417	0.958000	0.39756	0.995000	0.86356	7.651000	0.83577	2.793000	0.96121	0.563000	0.77884	TCT		0.368	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1				21	56	0	0	0	0.001882	0	21	56		
DDAH1	23576	broad.mit.edu	37	1	85816110	85816110	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:85816110C>G	ENST00000284031.8	-	4	679	c.585G>C	c.(583-585)caG>caC	p.Q195H	DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000426972.3_Missense_Mutation_p.Q102H|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000539042.1_Missense_Mutation_p.Q195H|DDAH1_ENST00000535924.2_Missense_Mutation_p.Q92H|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000542148.1_Missense_Mutation_p.Q95H	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	195					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TAAGGGCCTTCTGTGCAGATT	0.502																																						uc001dlb.2		NaN																	0					0						c.(583-585)CAG>CAC		dimethylarginine dimethylaminohydrolase 1	L-Citrulline(DB00155)						153.0	146.0	149.0					1																	85816110		2203	4300	6503	SO:0001583	missense	23576				arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding	g.chr1:85816110C>G	AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.585G>C	1.37:g.85816110C>G	ENSP00000284031:p.Gln195His					DDAH1_uc001dlc.2_Missense_Mutation_p.Q92H|uc001dla.1_Intron|DDAH1_uc010osb.1_Missense_Mutation_p.Q95H|DDAH1_uc009wco.2_Missense_Mutation_p.Q92H	p.Q195H	NM_012137	NP_036269	O94760	DDAH1_HUMAN		all cancers(265;0.0318)|Epithelial(280;0.0657)	4	746	-			195					Q5HYC8|Q86XK5	Missense_Mutation	SNP	ENST00000284031.8	37	c.585G>C	CCDS705.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245098	0.59103	.	.	ENSG00000153904	ENST00000284031;ENST00000539042;ENST00000535924;ENST00000426972;ENST00000542148	.	.	.	5.65	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.28599	0.0708	L	0.39514	1.22	0.80722	D	1	P;B	0.48407	0.91;0.149	B;B	0.42087	0.375;0.032	T	0.09079	-1.0691	9	0.36615	T	0.2	-19.3567	9.8977	0.41329	0.0:0.8423:0.0:0.1577	.	95;195	B4DYP1;O94760	.;DDAH1_HUMAN	H	195;195;92;102;95	.	ENSP00000284031:Q195H	Q	-	3	2	DDAH1	85588698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.323000	0.33701	1.522000	0.49001	0.650000	0.86243	CAG		0.502	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029189.1				49	95	0	0	0	0.00361	0	49	95		
RBM15	64783	broad.mit.edu	37	1	110882243	110882243	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:110882243G>A	ENST00000369784.3	+	1	1116	c.216G>A	c.(214-216)aaG>aaA	p.K72K	RBM15_ENST00000602849.1_Silent_p.K72K|RBM15_ENST00000487146.2_Silent_p.K72K|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	72	Gly/Ser-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGCGGAGCAAGAAGTTAGGGG	0.632			T	MKL1	acute megakaryocytic leukemia																																	uc001dzl.1		NaN		Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(214-216)AAG>AAA		RNA binding motif protein 15							39.0	40.0	40.0					1																	110882243		2203	4300	6503	SO:0001819	synonymous_variant	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882243G>A	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.216G>A	1.37:g.110882243G>A						RBM15_uc001dzm.1_Silent_p.K72K|uc001dzj.2_5'Flank	p.K72K	NM_022768	NP_073605	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	299	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	72			Gly/Ser-rich.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	37	c.216G>A	CCDS822.1																																																																																				0.632	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2		NM_022768		17	26	0	0	0	0.006122	0	17	26		
NOTCH2NL	388677	broad.mit.edu	37	1	145281697	145281697	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:145281697C>T	ENST00000369340.3	+	5	1071	c.627C>T	c.(625-627)tgC>tgT	p.C209C	RP11-458D21.5_ENST00000468030.1_Silent_p.C209C|NOTCH2NL_ENST00000344859.3_Silent_p.C209C|NOTCH2NL_ENST00000362074.6_Silent_p.C209C			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	209	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						AGTGCAACTGCCTTCCAGGTA	0.542																																						uc001emn.3		NaN																	0				ovary(1)	1						c.(625-627)TGC>TGT		Notch homolog 2 N-terminal like protein							84.0	85.0	85.0					1																	145281697		2202	4297	6499	SO:0001819	synonymous_variant	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145281697C>T		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.627C>T	1.37:g.145281697C>T						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.C209C|NOTCH2NL_uc001emo.2_Silent_p.C209C|NOTCH2NL_uc010oyh.1_RNA	p.C209C	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			4	997	+			209			EGF-like 6.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Silent	SNP	ENST00000369340.3	37	c.627C>T	CCDS909.1																																																																																				0.542	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1		NM_203458		9	127	0	0	0	0.006214	0	9	127		
FMO5	2330	broad.mit.edu	37	1	146672821	146672821	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:146672821G>C	ENST00000254090.4	-	7	1484	c.1096C>G	c.(1096-1098)Ctt>Gtt	p.L366V	RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_Intron|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.L366V	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	366						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					ATGATTGCAAGAGTTGGCCTT	0.453																																						uc001epi.2		NaN																	0				ovary(3)	3						c.(1096-1098)CTT>GTT		flavin containing monooxygenase 5 isoform 1							118.0	116.0	116.0					1																	146672821		2203	4300	6503	SO:0001583	missense	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146672821G>C	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1096C>G	1.37:g.146672821G>C	ENSP00000254090:p.Leu366Val					FMO5_uc001eph.3_Missense_Mutation_p.L366V|FMO5_uc001epj.2_Intron	p.L366V	NM_001461	NP_001452	P49326	FMO5_HUMAN			7	1485	-	all_hematologic(923;0.0487)		366					B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	c.1096C>G	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	21.6	4.174496	0.78452	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	T;T	0.50813	0.73;0.73	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67515	0.2901	M	0.88031	2.925	0.80722	D	1	D;D	0.71674	0.973;0.998	P;D	0.70227	0.85;0.968	T	0.71965	-0.4433	10	0.62326	D	0.03	-22.5522	13.8943	0.63761	0.0:0.1522:0.8478:0.0	.	366;366	P49326;C9JJD1	FMO5_HUMAN;.	V	366	ENSP00000416011:L366V;ENSP00000254090:L366V	ENSP00000254090:L366V	L	-	1	0	FMO5	145139445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.366000	0.66122	2.941000	0.99782	0.655000	0.94253	CTT		0.453	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2		NM_001461		14	33	0	0	0	0.00245	0	14	33		
FMO5	2330	broad.mit.edu	37	1	146672902	146672902	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:146672902G>C	ENST00000254090.4	-	7	1403	c.1015C>G	c.(1015-1017)Ctg>Gtg	p.L339V	RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_Intron|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.L339V	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	339						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GAATCTTCCAGAAACGGAAAG	0.448																																						uc001epi.2		NaN																	0				ovary(3)	3						c.(1015-1017)CTG>GTG		flavin containing monooxygenase 5 isoform 1							97.0	95.0	96.0					1																	146672902		2203	4300	6503	SO:0001583	missense	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146672902G>C	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1015C>G	1.37:g.146672902G>C	ENSP00000254090:p.Leu339Val					FMO5_uc001eph.3_Missense_Mutation_p.L339V|FMO5_uc001epj.2_Intron	p.L339V	NM_001461	NP_001452	P49326	FMO5_HUMAN			7	1404	-	all_hematologic(923;0.0487)		339					B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	c.1015C>G	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	15.89	2.966052	0.53507	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	T;T	0.60920	0.15;0.15	6.17	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	M	0.85859	2.78	0.80722	D	1	P;P	0.51933	0.949;0.942	P;D	0.65443	0.855;0.935	T	0.69840	-0.5036	10	0.51188	T	0.08	-16.3776	6.0391	0.19724	0.1495:0.1641:0.6864:0.0	.	339;339	P49326;C9JJD1	FMO5_HUMAN;.	V	339	ENSP00000416011:L339V;ENSP00000254090:L339V	ENSP00000254090:L339V	L	-	1	2	FMO5	145139526	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	3.577000	0.53885	1.623000	0.50342	0.655000	0.94253	CTG		0.448	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2		NM_001461		18	51	0	0	0	0.007413	0	18	51		
ACP6	51205	broad.mit.edu	37	1	147124335	147124335	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:147124335G>A	ENST00000369238.6	-	7	1245	c.798C>T	c.(796-798)agC>agT	p.S266S	ACP6_ENST00000460583.1_5'Flank	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	266					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					GCATGGGGCAGCTTGGGAGGT	0.493																																						uc001epr.2		NaN																	0				ovary(4)	4						c.(796-798)AGC>AGT		acid phosphatase 6, lysophosphatidic precursor							112.0	104.0	107.0					1																	147124335		2203	4300	6503	SO:0001819	synonymous_variant	51205				lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	g.chr1:147124335G>A	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.798C>T	1.37:g.147124335G>A						ACP6_uc009wjj.1_3'UTR	p.S266S	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN			7	1262	-	all_hematologic(923;0.0276)		266					Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Silent	SNP	ENST00000369238.6	37	c.798C>T	CCDS928.1																																																																																				0.493	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2		NM_016361		23	49	0	0	0	0.003954	0	23	49		
MCL1	4170	broad.mit.edu	37	1	150551448	150551448	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:150551448G>A	ENST00000369026.2	-	1	618	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_Missense_Mutation_p.R187W	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	187					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R187W(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCCTGCTCCCGAAGGTACCGA	0.647																																						uc001euz.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(559-561)CGG>TGG		myeloid cell leukemia sequence 1 isoform 1							53.0	54.0	54.0					1																	150551448		2203	4300	6503	SO:0001583	missense	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150551448G>A	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.559C>T	1.37:g.150551448G>A	ENSP00000358022:p.Arg187Trp					MCL1_uc010pch.1_Missense_Mutation_p.R77W|MCL1_uc001eva.2_Missense_Mutation_p.R187W	p.R187W	NM_021960	NP_068779	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	689	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		187					B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Missense_Mutation	SNP	ENST00000369026.2	37	c.559C>T	CCDS957.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150256	0.78001	.	.	ENSG00000143384	ENST00000369026;ENST00000307940;ENST00000439749	T;T	0.04551	3.6;3.6	5.14	2.16	0.27623	.	0.916459	0.09330	N	0.816992	T	0.04407	0.0121	L	0.36672	1.1	0.32839	D	0.505123	D;D	0.89917	1.0;0.998	D;P	0.67548	0.952;0.783	T	0.42050	-0.9474	10	0.87932	D	0	-5.5057	3.1702	0.06550	0.0856:0.1544:0.4419:0.318	.	187;187	Q07820-2;Q07820	.;MCL1_HUMAN	W	187;187;116	ENSP00000358022:R187W;ENSP00000309973:R187W	ENSP00000309973:R187W	R	-	1	2	MCL1	148818072	0.930000	0.31532	0.539000	0.28077	0.991000	0.79684	1.624000	0.37018	0.290000	0.22444	0.655000	0.94253	CGG		0.647	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1		NM_021960		24	50	0	0	0	0.003954	0	24	50		
TNFAIP8L2	79626	broad.mit.edu	37	1	151131260	151131260	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:151131260C>G	ENST00000368910.3	+	2	213	c.87C>G	c.(85-87)ctC>ctG	p.L29L		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	29					innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)				lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGCTCATCTCTTCATAGATG	0.567																																						uc001ewx.2		NaN																	0					0						c.(85-87)CTC>CTG		tumor necrosis factor, alpha-induced protein							71.0	69.0	70.0					1																	151131260		2203	4300	6503	SO:0001819	synonymous_variant	79626				innate immune response			g.chr1:151131260C>G	BC063014	CCDS985.1	1q21.2	2008-02-05			ENSG00000163154	ENSG00000163154			26277	protein-coding gene	gene with protein product		612112					Standard	NM_024575		Approved	FLJ23467	uc001ewx.2	Q6P589	OTTHUMG00000012259	ENST00000368910.3:c.87C>G	1.37:g.151131260C>G							p.L29L	NM_024575	NP_078851	Q6P589	TP8L2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	213	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		29					Q6I9Y0|Q9H2H7|Q9H5G2	Silent	SNP	ENST00000368910.3	37	c.87C>G	CCDS985.1																																																																																				0.567	TNFAIP8L2-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034069.2		NM_024575		24	34	0	0	0	0.004656	0	24	34		
HRNR	388697	broad.mit.edu	37	1	152188523	152188523	+	Missense_Mutation	SNP	T	T	C	rs140946102		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:152188523T>C	ENST00000368801.2	-	3	5657	c.5582A>G	c.(5581-5583)cAt>cGt	p.H1861R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1861					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGACCCATGTCGGCCACT	0.592																																						uc001ezt.1		NaN																	0				skin(2)|ovary(1)	3						c.(5581-5583)CAT>CGT		hornerin		T	ARG/HIS	1,4335	2.1+/-5.4	0,1,2167	269.0	443.0	385.0		5582	1.7	0.0	1	dbSNP_134	385	0,8592		0,0,4296	no	missense	HRNR	NM_001009931.1	29	0,1,6463	CC,CT,TT		0.0,0.0231,0.0077	possibly-damaging	1861/2851	152188523	1,12927	2168	4296	6464	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188523T>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5582A>G	1.37:g.152188523T>C	ENSP00000357791:p.His1861Arg						p.H1861R	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5658	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1861			20.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.5582A>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	T	6.404	0.442573	0.12164	2.31E-4	0.0	ENSG00000197915	ENST00000368801	T	0.04758	3.56	4.14	1.68	0.24146	.	.	.	.	.	T	0.00998	0.0033	L	0.39898	1.24	0.09310	N	1	P	0.46512	0.879	B	0.34824	0.19	T	0.47761	-0.9092	9	0.21540	T	0.41	.	4.5372	0.12040	0.0:0.1063:0.1955:0.6982	.	1861	Q86YZ3	HORN_HUMAN	R	1861	ENSP00000357791:H1861R	ENSP00000357791:H1861R	H	-	2	0	HRNR	150455147	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.096000	0.15147	0.221000	0.20879	-0.296000	0.09543	CAT		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		46	519	0	0	0	0.00361	0	46	519		
IVL	3713	broad.mit.edu	37	1	152882414	152882414	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:152882414G>A	ENST00000368764.3	+	2	205	c.141G>A	c.(139-141)gtG>gtA	p.V47V	IVL_ENST00000392667.2_Intron			P07476	INVO_HUMAN	involucrin	47					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCAGAAGGTGCCTGTCGAGC	0.542																																						uc001fau.2		NaN																	0				ovary(3)	3						c.(139-141)GTG>GTA		involucrin							91.0	83.0	86.0					1																	152882414		2203	4300	6503	SO:0001819	synonymous_variant	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152882414G>A	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.141G>A	1.37:g.152882414G>A							p.V47V	NM_005547	NP_005538	P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	187	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47					Q5T7P4	Silent	SNP	ENST00000368764.3	37	c.141G>A	CCDS1030.1																																																																																				0.542	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1		NM_005547		7	44	0	0	0	0.004482	0	7	44		
YY1AP1	55249	broad.mit.edu	37	1	155649255	155649255	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:155649255C>T	ENST00000295566.4	-	4	291	c.268G>A	c.(268-270)Gag>Aag	p.E90K	YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000535662.1_5'Flank|YY1AP1_ENST00000405763.3_Missense_Mutation_p.E162K|YY1AP1_ENST00000368330.2_Missense_Mutation_p.E24K|YY1AP1_ENST00000355499.4_Missense_Mutation_p.E24K|YY1AP1_ENST00000368340.5_Missense_Mutation_p.E162K|YY1AP1_ENST00000347088.5_Missense_Mutation_p.E24K|YY1AP1_ENST00000407221.1_Missense_Mutation_p.E13K|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000361831.5_Missense_Mutation_p.E13K|YY1AP1_ENST00000368339.5_Missense_Mutation_p.E162K|YY1AP1_ENST00000438245.2_Missense_Mutation_p.E24K|YY1AP1_ENST00000311573.5_Missense_Mutation_p.E13K|YY1AP1_ENST00000359205.5_Missense_Mutation_p.E13K|YY1AP1_ENST00000404643.1_Missense_Mutation_p.E24K	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	90					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CGCTCCTCCTCTTCTGGGCCA	0.483																																						uc001fln.2		NaN																	0				ovary(2)|skin(1)	3						c.(268-270)GAG>AAG		YY1-associated protein isoform 2							137.0	114.0	122.0					1																	155649255		2203	4300	6503	SO:0001583	missense	55249				regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:155649255C>T	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.268G>A	1.37:g.155649255C>T	ENSP00000295566:p.Glu90Lys					YY1AP1_uc010pgg.1_5'Flank|YY1AP1_uc010pgh.1_Missense_Mutation_p.E13K|YY1AP1_uc010pgi.1_Missense_Mutation_p.E162K|YY1AP1_uc001flh.2_Missense_Mutation_p.E162K|YY1AP1_uc009wqt.2_Missense_Mutation_p.E13K|YY1AP1_uc001flk.2_Missense_Mutation_p.E13K|YY1AP1_uc001fll.2_Missense_Mutation_p.E24K|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_Missense_Mutation_p.E13K|YY1AP1_uc001fli.2_Missense_Mutation_p.E24K|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_Missense_Mutation_p.E24K|YY1AP1_uc009wqw.2_Missense_Mutation_p.E13K|YY1AP1_uc001flo.2_5'UTR|YY1AP1_uc001flp.2_Missense_Mutation_p.E24K|YY1AP1_uc010pgj.1_Missense_Mutation_p.E90K|YY1AP1_uc009wqx.2_Missense_Mutation_p.E162K|YY1AP1_uc010pgk.1_Missense_Mutation_p.E162K	p.E90K	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN			4	292	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		90					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.268G>A	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178512	0.38511	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T	0.30182	1.56;1.62;1.54;1.62;1.56;1.61;1.63;1.62;1.54;1.65;1.6	3.18	2.22	0.28083	.	0.123360	0.53938	D	0.000057	T	0.25791	0.0628	L	0.41236	1.265	0.36050	D	0.840702	B;B;B;B;P;P;D	0.52996	0.033;0.095;0.093;0.281;0.811;0.905;0.957	B;B;B;B;P;P;P	0.57846	0.076;0.094;0.018;0.263;0.828;0.487;0.57	T	0.04900	-1.0919	10	0.56958	D	0.05	.	10.1495	0.42784	0.0:0.8935:0.0:0.1065	.	24;90;162;162;90;24;162	B4DZQ4;B4DQQ0;B4DMP2;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;YYAP1_HUMAN;.;.	K	13;24;13;24;13;162;90;24;13;24;162;162;24;13;24	ENSP00000352134:E13K;ENSP00000347686:E24K;ENSP00000311138:E13K;ENSP00000316079:E24K;ENSP00000355298:E13K;ENSP00000357324:E162K;ENSP00000295566:E90K;ENSP00000357314:E24K;ENSP00000385791:E13K;ENSP00000385390:E24K;ENSP00000357323:E162K	ENSP00000295566:E90K	E	-	1	0	YY1AP1	153915879	0.996000	0.38824	0.990000	0.47175	0.641000	0.38312	3.185000	0.50934	1.589000	0.49982	0.305000	0.20034	GAG		0.483	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1		NM_139118		16	52	0	0	0	0.003163	0	16	52		
RGL1	23179	broad.mit.edu	37	1	183853949	183853949	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:183853949C>T	ENST00000360851.3	+	7	1006	c.828C>T	c.(826-828)atC>atT	p.I276I	RGL1_ENST00000304685.4_Silent_p.I311I|RGL1_ENST00000536277.1_Silent_p.I274I|RGL1_ENST00000539189.1_Silent_p.I276I			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	276	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTCCTACGATCCGTGCCACCA	0.478																																						uc001gqo.2		NaN																	0				breast(5)|ovary(4)|lung(2)	11						c.(826-828)ATC>ATT		ral guanine nucleotide dissociation							149.0	127.0	135.0					1																	183853949		2203	4300	6503	SO:0001819	synonymous_variant	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183853949C>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.828C>T	1.37:g.183853949C>T						RGL1_uc010pof.1_Silent_p.I81I|RGL1_uc001gqm.2_Silent_p.I311I|RGL1_uc010pog.1_Silent_p.I274I|RGL1_uc010poh.1_Silent_p.I274I|RGL1_uc010poi.1_Silent_p.I276I	p.I276I	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			7	985	+			276			Ras-GEF.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	ENST00000360851.3	37	c.828C>T																																																																																					0.478	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1		NM_015149		19	39	0	0	0	0.007413	0	19	39		
PRG4	10216	broad.mit.edu	37	1	186280724	186280724	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:186280724G>C	ENST00000445192.2	+	10	3834	c.3789G>C	c.(3787-3789)aaG>aaC	p.K1263N	RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367483.4_Missense_Mutation_p.K1222N|PRG4_ENST00000367486.3_Missense_Mutation_p.K1220N|PRG4_ENST00000367485.4_Missense_Mutation_p.K1170N|PRG4_ENST00000367484.3_Missense_Mutation_p.K792N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1263					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ATTTTTTCAAGAGAGGTATGT	0.313																																						uc001gru.3		NaN																	0				skin(1)	1						c.(3787-3789)AAG>AAC		proteoglycan 4 isoform A							60.0	65.0	64.0					1																	186280724		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186280724G>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3789G>C	1.37:g.186280724G>C	ENSP00000399679:p.Lys1263Asn					PRG4_uc001grt.3_Missense_Mutation_p.K1222N|PRG4_uc009wyl.2_Missense_Mutation_p.K1170N|PRG4_uc009wym.2_Missense_Mutation_p.K1129N|PRG4_uc010poo.1_RNA	p.K1263N	NM_005807	NP_005798	Q92954	PRG4_HUMAN			10	3840	+			1263					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.3789G>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658527	0.47467	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	4.95	4.02	0.46733	Hemopexin/matrixin (2);	0.000000	0.45867	U	0.000340	T	0.39009	0.1062	M	0.70275	2.135	0.41401	D	0.987674	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.29912	-0.9996	10	0.87932	D	0	-9.7038	4.9342	0.13932	0.305:0.0:0.695:0.0	.	1129;1170;1263;1222	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	N	1220;792;1222;1170;1263	ENSP00000356456:K1220N;ENSP00000356454:K792N;ENSP00000356453:K1222N;ENSP00000356455:K1170N;ENSP00000399679:K1263N	ENSP00000356453:K1222N	K	+	3	2	PRG4	184547347	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.107000	0.50329	2.453000	0.82957	0.585000	0.79938	AAG		0.313	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1		NM_005807		23	44	0	0	0	0.003954	0	23	44		
PTPRC	5788	broad.mit.edu	37	1	198668734	198668734	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:198668734G>A	ENST00000367376.2	+	5	505	c.334G>A	c.(334-336)Gac>Aac	p.D112N	PTPRC_ENST00000442510.2_Missense_Mutation_p.D114N|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.D112N|PTPRC_ENST00000594404.1_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	112					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)	p.D112Y(1)		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						CACGCACGCAGACTCGCAGAC	0.527											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gur.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(334-336)GAC>AAC		protein tyrosine phosphatase, receptor type, C							116.0	119.0	118.0					1																	198668734		2203	4300	6503	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.chr1:198668734G>A	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.334G>A	1.37:g.198668734G>A	ENSP00000356346:p.Asp112Asn		OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2100	PTPRC_uc001gus.1_Missense_Mutation_p.D112N|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Missense_Mutation_p.D48N|PTPRC_uc009wzf.1_Missense_Mutation_p.D48N|PTPRC_uc010ppg.1_Missense_Mutation_p.D48N|PTPRC_uc001guu.1_Missense_Mutation_p.D155N|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA	p.D112N	NM_002838	NP_002829	P08575	PTPRC_HUMAN			5	514	+			112			Extracellular (Potential).		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.334G>A		.	.	.	.	.	.	.	.	.	.	G	11.62	1.692554	0.30052	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000418674	T	0.03004	4.08	5.21	2.8	0.32819	.	0.747332	0.11864	N	0.522044	T	0.04907	0.0132	L	0.59436	1.845	0.09310	N	0.999999	B;B;B;B;B;B	0.32653	0.379;0.142;0.218;0.218;0.006;0.013	B;B;B;B;B;B	0.28553	0.091;0.03;0.035;0.063;0.005;0.005	T	0.34477	-0.9827	10	0.66056	D	0.02	.	6.836	0.23937	0.2831:0.0:0.7169:0.0	.	48;48;48;153;112;112	F5GXZ3;B4DSZ5;Q5T9M4;Q6Q1P2;E9PC28;P08575	.;.;.;.;.;PTPRC_HUMAN	N	114;48;112;112;153;46;112;46;112	ENSP00000193532:D112N	ENSP00000271610:D153N	D	+	1	0	PTPRC	196935357	0.001000	0.12720	0.241000	0.24154	0.645000	0.38454	0.708000	0.25719	0.292000	0.22492	0.455000	0.32223	GAC		0.527	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding					40	97	0	0	0	0.00623	0	40	97		
KIF14	9928	broad.mit.edu	37	1	200550392	200550392	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:200550392G>A	ENST00000367350.4	-	20	3710	c.3272C>T	c.(3271-3273)tCa>tTa	p.S1091L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1091	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						AATCATCATTGAGAGTTTCAT	0.328																																						uc010ppk.1		NaN																	0				breast(3)|ovary(2)|skin(2)	7						c.(3271-3273)TCA>TTA		kinesin family member 14							98.0	101.0	100.0					1																	200550392		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200550392G>A	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3272C>T	1.37:g.200550392G>A	ENSP00000356319:p.Ser1091Leu					KIF14_uc010ppj.1_Missense_Mutation_p.S600L	p.S1091L	NM_014875	NP_055690	Q15058	KIF14_HUMAN			20	3711	-			1091			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.3272C>T	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202720	0.94997	.	.	ENSG00000118193	ENST00000367350	T	0.16743	2.32	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	T	0.37686	-0.9695	10	0.87932	D	0	.	19.6036	0.95573	0.0:0.0:1.0:0.0	.	1091	Q15058	KIF14_HUMAN	L	1091	ENSP00000356319:S1091L	ENSP00000356319:S1091L	S	-	2	0	KIF14	198817015	1.000000	0.71417	0.862000	0.33874	0.997000	0.91878	9.447000	0.97595	2.631000	0.89168	0.591000	0.81541	TCA		0.328	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1		NM_014875		45	79	0	0	0	0.00361	0	45	79		
PHLDA3	23612	broad.mit.edu	37	1	201437713	201437713	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:201437713C>A	ENST00000367311.3	-	1	599	c.202G>T	c.(202-204)Ggg>Tgg	p.G68W	PHLDA3_ENST00000367309.1_Missense_Mutation_p.G68W|PHLDA3_ENST00000485436.1_5'Flank	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	68	PH.				anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	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)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						ATGTGGCGCCCGGTGCTCTCC	0.687																																						uc001gwq.2		NaN																	0					0						c.(202-204)GGG>TGG		pleckstrin homology-like domain, family A,							52.0	57.0	55.0					1																	201437713		2203	4300	6503	SO:0001583	missense	23612				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding	g.chr1:201437713C>A	AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"""pleckstrin homology-like domain, family A, member 2"""	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.202G>T	1.37:g.201437713C>A	ENSP00000356280:p.Gly68Trp					PHLDA3_uc009wzx.2_5'UTR	p.G68W	NM_012396	NP_036528	Q9Y5J5	PHLA3_HUMAN			1	587	-			68			PH.		B2R5A4|Q53HD6|Q8NBW9	Missense_Mutation	SNP	ENST00000367311.3	37	c.202G>T	CCDS1412.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938818	0.73557	.	.	ENSG00000174307	ENST00000367311;ENST00000367309	T;T	0.32753	1.44;1.44	3.75	3.75	0.43078	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.230920	0.36409	U	0.002606	T	0.35970	0.0950	L	0.38175	1.15	0.35217	D	0.775664	D	0.54207	0.965	P	0.53549	0.729	T	0.52873	-0.8517	10	0.87932	D	0	-23.6307	12.6746	0.56887	0.0:0.8325:0.1675:0.0	.	68	Q9Y5J5	PHLA3_HUMAN	W	68	ENSP00000356280:G68W;ENSP00000356278:G68W	ENSP00000356278:G68W	G	-	1	0	PHLDA3	199704336	0.910000	0.30920	1.000000	0.80357	0.976000	0.68499	1.397000	0.34543	1.796000	0.52611	0.491000	0.48974	GGG		0.687	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087020.2		NM_012396		7	80	1	0	0.00307968	0.00308	0.00528666	7	80		
PPFIA4	8497	broad.mit.edu	37	1	203015064	203015064	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:203015064C>G	ENST00000447715.2	+	12	1395	c.954C>G	c.(952-954)ctC>ctG	p.L318L	PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000414050.2_Silent_p.L25L|PPFIA4_ENST00000367240.2_Silent_p.L318L			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	318					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TCCATGACCTCAATGACAAGC	0.587																																						uc009xaj.2		NaN																	0				ovary(4)|skin(1)	5						c.(1393-1395)CTC>CTG		SubName: Full=Liprin alpha4;							276.0	246.0	255.0					1																	203015064		876	1991	2867	SO:0001819	synonymous_variant	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203015064C>G	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.954C>G	1.37:g.203015064C>G						PPFIA4_uc010pqf.1_Silent_p.L25L	p.L465L			O75335	LIPA4_HUMAN			12	1395	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Silent	SNP	ENST00000447715.2	37	c.1395C>G																																																																																					0.587	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1		NM_015053		37	103	0	0	0	0.004289	0	37	103		
PPP2R5A	5525	broad.mit.edu	37	1	212530372	212530372	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:212530372C>G	ENST00000261461.2	+	10	1633	c.1059C>G	c.(1057-1059)ttC>ttG	p.F353L	RP11-384C4.2_ENST00000447949.1_RNA|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.F296L	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	353					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		AGCCACTTTTCAAGCAGATAT	0.308																																						uc001hjb.2		NaN																	0				ovary(1)	1						c.(1057-1059)TTC>TTG		protein phosphatase 2, regulatory subunit B							95.0	97.0	96.0					1																	212530372		2203	4298	6501	SO:0001583	missense	5525				negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	g.chr1:212530372C>G	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9309	protein-coding gene	gene with protein product		601643	"""protein phosphatase 2, regulatory subunit B (B56), alpha isoform"", ""protein phosphatase 2, regulatory subunit B', alpha isoform"""			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.1059C>G	1.37:g.212530372C>G	ENSP00000261461:p.Phe353Leu					PPP2R5A_uc010ptd.1_Missense_Mutation_p.F294L	p.F353L	NM_006243	NP_006234	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	10	1633	+			353					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	c.1059C>G	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738261	0.69304	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.87	0.971	0.19698	Armadillo-type fold (1);	0.041854	0.85682	D	0.000000	T	0.79405	0.4440	M	0.89414	3.03	0.49299	D	0.999772	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80670	-0.1279	9	0.87932	D	0	-11.3677	11.2945	0.49269	0.0:0.1952:0.0:0.8048	.	296;353	B7Z7L2;Q15172	.;2A5A_HUMAN	L	353;353;296	.	ENSP00000261461:F353L	F	+	3	2	PPP2R5A	210596995	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.455000	0.35190	0.190000	0.20209	-1.099000	0.02127	TTC		0.308	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1		NM_006243		24	46	0	0	0	0.00333	0	24	46		
TTC13	79573	broad.mit.edu	37	1	231051946	231051946	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:231051946C>T	ENST00000366661.4	-	18	2093	c.2086G>A	c.(2086-2088)Gga>Aga	p.G696R	TTC13_ENST00000366662.4_Missense_Mutation_p.G642R|TTC13_ENST00000414259.1_Missense_Mutation_p.G643R	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	696										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TACTTGTCTCCTGTAATCGTG	0.428																																						uc001huf.3		NaN																	0				ovary(1)|skin(1)	2						c.(2086-2088)GGA>AGA		tetratricopeptide repeat domain 13 isoform a							249.0	205.0	220.0					1																	231051946		2203	4300	6503	SO:0001583	missense	79573						binding	g.chr1:231051946C>T		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.2086G>A	1.37:g.231051946C>T	ENSP00000355621:p.Gly696Arg					TTC13_uc009xfi.2_Missense_Mutation_p.G643R|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.G642R|TTC13_uc009xfk.1_Missense_Mutation_p.G585R	p.G696R	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	18	2117	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	696					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.2086G>A	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116469	0.77323	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.43688	0.94;0.97;0.97	5.69	5.69	0.88448	.	0.049603	0.85682	D	0.000000	T	0.53769	0.1817	L	0.28274	0.84	0.80722	D	1	D;D;D;D	0.89917	0.998;0.986;1.0;0.999	D;P;D;D	0.79108	0.951;0.797;0.992;0.98	T	0.49234	-0.8961	10	0.36615	T	0.2	-9.4805	19.8246	0.96612	0.0:1.0:0.0:0.0	.	621;643;642;696	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	R	696;642;643	ENSP00000355621:G696R;ENSP00000355622:G642R;ENSP00000416631:G643R	ENSP00000355621:G696R	G	-	1	0	TTC13	229118569	1.000000	0.71417	0.984000	0.44739	0.595000	0.36748	7.487000	0.81328	2.676000	0.91093	0.563000	0.77884	GGA		0.428	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2		NM_024525		39	103	0	0	0	0.00623	0	39	103		
RYR2	6262	broad.mit.edu	37	1	237838043	237838043	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:237838043C>G	ENST00000366574.2	+	60	9044	c.8727C>G	c.(8725-8727)gaC>gaG	p.D2909E	RYR2_ENST00000360064.6_Missense_Mutation_p.D2907E|RYR2_ENST00000542537.1_Missense_Mutation_p.D2893E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2909	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATTTAAGGACCTGGAACTGG	0.388																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(8725-8727)GAC>GAG		cardiac muscle ryanodine receptor							80.0	73.0	75.0					1																	237838043		1842	4090	5932	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237838043C>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8727C>G	1.37:g.237838043C>G	ENSP00000355533:p.Asp2909Glu					RYR2_uc010pxz.1_5'UTR	p.D2909E	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		60	8847	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2909			Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|4.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.8727C>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038294	0.35989	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;D;T	0.96365	-0.18;-3.99;-0.18	4.76	3.82	0.43975	.	0.454410	0.19634	U	0.109617	D	0.92090	0.7493	L	0.43152	1.355	0.80722	D	1	P	0.48911	0.917	B	0.39185	0.293	D	0.90150	0.4220	10	0.37606	T	0.19	.	8.6112	0.33804	0.153:0.7658:0.0:0.0812	.	2909	Q92736	RYR2_HUMAN	E	2909;2907;2893	ENSP00000355533:D2909E;ENSP00000353174:D2907E;ENSP00000443798:D2893E	ENSP00000353174:D2907E	D	+	3	2	RYR2	235904666	0.575000	0.26692	1.000000	0.80357	0.975000	0.68041	-0.116000	0.10724	2.342000	0.79632	0.460000	0.39030	GAC		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		5	19	0	0	0	0.000602	0	5	19		
CHRM3	1131	broad.mit.edu	37	1	240072502	240072502	+	Missense_Mutation	SNP	G	G	A	rs532452227	byFrequency	TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:240072502G>A	ENST00000255380.4	+	5	2530	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	584					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TTTCACAAGCGCGCACCCGAG	0.522													G|||	4	0.000798722	0.0	0.0043	5008	,	,		16486	0.0		0.0	False		,,,				2504	0.001					uc001hyp.2		NaN																	0				ovary(4)|skin(1)	5						c.(1750-1752)CGC>CAC		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						40.0	41.0	40.0					1																	240072502		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072502G>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1751G>A	1.37:g.240072502G>A	ENSP00000255380:p.Arg584His						p.R584H	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2530	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	584			Cytoplasmic (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1751G>A	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969010	0.34754	.	.	ENSG00000133019	ENST00000255380	T	0.60797	0.16	5.52	5.52	0.82312	.	0.341793	0.26522	N	0.023911	T	0.43255	0.1239	N	0.19112	0.55	0.37185	D	0.90366	B	0.14012	0.009	B	0.10450	0.005	T	0.45338	-0.9268	10	0.49607	T	0.09	-10.7233	12.733	0.57208	0.0751:0.0:0.9248:0.0	.	584	P20309	ACM3_HUMAN	H	584	ENSP00000255380:R584H	ENSP00000255380:R584H	R	+	2	0	CHRM3	238139125	1.000000	0.71417	0.947000	0.38551	0.650000	0.38633	5.190000	0.65104	2.597000	0.87782	0.609000	0.83330	CGC		0.522	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2		NM_000740		12	47	0	0	0	0.001368	0	12	47		
PFKFB3	5209	broad.mit.edu	37	10	6258109	6258109	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:6258109G>C	ENST00000379775.4	+	4	651	c.321G>C	c.(319-321)ttG>ttC	p.L107F	PFKFB3_ENST00000379785.1_Missense_Mutation_p.L107F|PFKFB3_ENST00000379789.4_Missense_Mutation_p.L87F|PFKFB3_ENST00000536985.1_Missense_Mutation_p.L87F|PFKFB3_ENST00000317350.4_Missense_Mutation_p.L107F|PFKFB3_ENST00000540253.1_Missense_Mutation_p.L121F|PFKFB3_ENST00000379782.3_Missense_Mutation_p.L107F|PFKFB3_ENST00000360521.2_Missense_Mutation_p.L107F	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	107	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TAGCTGCCTTGAGAGATGTCA	0.592																																						uc001ije.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(319-321)TTG>TTC		6-phosphofructo-2-kinase/fructose-2,							157.0	129.0	138.0					10																	6258109		2203	4300	6503	SO:0001583	missense	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6258109G>C		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.321G>C	10.37:g.6258109G>C	ENSP00000369100:p.Leu107Phe					PFKFB3_uc001ijd.2_Missense_Mutation_p.L87F|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Missense_Mutation_p.L121F|PFKFB3_uc001ijf.2_Missense_Mutation_p.L107F	p.L107F	NM_004566	NP_004557	Q16875	F263_HUMAN			4	705	+			107			6-phosphofructo-2-kinase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	37	c.321G>C	CCDS7078.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242949	0.79912	.	.	ENSG00000170525	ENST00000536985;ENST00000379789;ENST00000540253;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499	.	.	.	5.23	5.23	0.72850	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	T	0.82102	0.4964	M	0.91196	3.185	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;0.999;0.993;0.999	D	0.85644	0.1278	9	0.87932	D	0	-14.7162	12.1822	0.54218	0.0783:0.0:0.9217:0.0	.	121;107;107;87	B7Z955;Q16875-2;Q16875;Q5VX15	.;.;F263_HUMAN;.	F	87;87;121;107;107;107;107;107;107	.	ENSP00000369105:L107F	L	+	3	2	PFKFB3	6298115	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.703000	0.54808	2.428000	0.82296	0.591000	0.81541	TTG		0.592	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1				35	63	0	0	0	0.005524	0	35	63		
APBB1IP	54518	broad.mit.edu	37	10	26800746	26800746	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:26800746G>C	ENST00000376236.4	+	7	1057	c.602G>C	c.(601-603)cGa>cCa	p.R201P	RNA5SP307_ENST00000362863.1_RNA	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	201	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CAGCTGGCCCGAGATGTTCTG	0.473																																						uc001iss.2		NaN																	0				lung(4)|skin(2)|central_nervous_system(1)	7						c.(601-603)CGA>CCA		amyloid beta (A4) precursor protein-binding,							145.0	136.0	139.0					10																	26800746		2203	4300	6503	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26800746G>C	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.602G>C	10.37:g.26800746G>C	ENSP00000365411:p.Arg201Pro					APBB1IP_uc009xks.1_Missense_Mutation_p.R201P	p.R201P	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			7	923	+			201			Ras-associating.		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.602G>C	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062194	0.93846	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.18016	2.24	5.65	5.65	0.86999	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	M	0.86268	2.805	0.80722	D	1	D;P	0.53619	0.961;0.917	P;P	0.61275	0.886;0.722	T	0.49844	-0.8896	10	0.66056	D	0.02	.	19.717	0.96124	0.0:0.0:1.0:0.0	.	201;201	B4E100;Q7Z5R6	.;AB1IP_HUMAN	P	201	ENSP00000365411:R201P	ENSP00000365411:R201P	R	+	2	0	APBB1IP	26840752	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	7.632000	0.83247	2.661000	0.90470	0.655000	0.94253	CGA		0.473	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1		NM_019043		22	64	0	0	0	0.00278	0	22	64		
WAC	51322	broad.mit.edu	37	10	28906704	28906704	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:28906704G>A	ENST00000354911.4	+	13	2026	c.1865G>A	c.(1864-1866)cGa>cAa	p.R622Q	WAC_ENST00000347934.4_Missense_Mutation_p.R519Q|WAC_ENST00000375664.4_Missense_Mutation_p.R577Q|WAC_ENST00000375646.1_Missense_Mutation_p.R470Q	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	622					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GCAACTTTGCGAGAGCAAAGG	0.299																																						uc001iuf.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1864-1866)CGA>CAA		WW domain-containing adapter with a coiled-coil							29.0	31.0	30.0					10																	28906704		2202	4299	6501	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28906704G>A	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1865G>A	10.37:g.28906704G>A	ENSP00000346986:p.Arg622Gln					WAC_uc001iud.2_Missense_Mutation_p.R577Q|WAC_uc001iue.2_Missense_Mutation_p.R312Q|WAC_uc001iug.2_Missense_Mutation_p.R519Q|WAC_uc001iuh.2_Missense_Mutation_p.R573Q	p.R622Q	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN			13	1950	+			622			Potential.		A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.1865G>A	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951866	0.53293	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.47	4.57	0.56435	.	0.054165	0.85682	D	0.000000	T	0.15089	0.0364	N	0.17082	0.46	0.80722	D	1	B;P;B	0.46220	0.023;0.874;0.014	B;B;B	0.39840	0.007;0.311;0.003	T	0.04140	-1.0974	10	0.10902	T	0.67	-2.1123	14.4401	0.67309	0.0714:0.0:0.9286:0.0	.	577;519;622	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	Q	577;470;519;622	ENSP00000364816:R577Q;ENSP00000364797:R470Q;ENSP00000311106:R519Q;ENSP00000346986:R622Q	ENSP00000311106:R519Q	R	+	2	0	WAC	28946710	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	1.311000	0.45024	0.591000	0.81541	CGA		0.299	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1		NM_100264		6	22	0	0	0	0.00308	0	6	22		
ANK3	288	broad.mit.edu	37	10	61829613	61829613	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:61829613C>G	ENST00000280772.2	-	37	11217	c.11026G>C	c.(11026-11028)Gag>Cag	p.E3676Q	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3676					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTAGGTGTCTCTACATTTCTC	0.552																																						uc001jky.2		NaN																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(11026-11028)GAG>CAG		ankyrin 3 isoform 1							126.0	132.0	130.0					10																	61829613		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61829613C>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11026G>C	10.37:g.61829613C>G	ENSP00000280772:p.Glu3676Gln					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.E3676Q	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	11218	-			3676					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.11026G>C	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582957	0.65992	.	.	ENSG00000151150	ENST00000280772	T	0.18657	2.2	5.67	5.67	0.87782	.	0.168657	0.27816	N	0.017738	T	0.21761	0.0524	N	0.24115	0.695	0.80722	D	1	B	0.31153	0.31	B	0.36608	0.229	T	0.05037	-1.0910	10	0.59425	D	0.04	.	19.7636	0.96333	0.0:1.0:0.0:0.0	.	3676	Q12955	ANK3_HUMAN	Q	3676	ENSP00000280772:E3676Q	ENSP00000280772:E3676Q	E	-	1	0	ANK3	61499619	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.667000	0.90743	0.655000	0.94253	GAG		0.552	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987		15	52	0	0	0	0.00245	0	15	52		
ANK3	288	broad.mit.edu	37	10	61959942	61959942	+	Missense_Mutation	SNP	G	G	T	rs138255802		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:61959942G>T	ENST00000280772.2	-	13	1627	c.1436C>A	c.(1435-1437)gCt>gAt	p.A479D	ANK3_ENST00000373827.2_Missense_Mutation_p.A473D|ANK3_ENST00000503366.1_Missense_Mutation_p.A462D	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	479					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CACAACTTCAGCTTGGCCGGA	0.463																																						uc001jky.2		NaN																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(1435-1437)GCT>GAT		ankyrin 3 isoform 1							84.0	74.0	77.0					10																	61959942		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61959942G>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.1436C>A	10.37:g.61959942G>T	ENSP00000280772:p.Ala479Asp					ANK3_uc010qih.1_Missense_Mutation_p.A462D|ANK3_uc001jkz.3_Missense_Mutation_p.A473D|ANK3_uc001jlb.1_Missense_Mutation_p.A8D|ANK3_uc001jlc.1_Missense_Mutation_p.A140D	p.A479D	NM_020987	NP_066267	Q12955	ANK3_HUMAN			13	1628	-			479			ANK 13.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.1436C>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537012	0.65085	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304;ENST00000536348	T;T;T	0.63255	-0.03;2.36;2.36	5.81	5.81	0.92471	Ankyrin repeat-containing domain (3);	0.193405	0.25383	N	0.031067	T	0.55737	0.1939	N	0.16602	0.42	0.80722	D	1	B;B;B;P;P	0.36354	0.005;0.039;0.254;0.459;0.549	B;B;B;B;B	0.40901	0.025;0.035;0.297;0.219;0.343	T	0.60326	-0.7285	10	0.72032	D	0.01	.	20.1454	0.98074	0.0:0.0:1.0:0.0	.	462;140;23;473;479	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	D	479;473;462;441;140;140;23	ENSP00000280772:A479D;ENSP00000362933:A473D;ENSP00000425236:A462D	ENSP00000280772:A479D	A	-	2	0	ANK3	61629948	0.998000	0.40836	0.870000	0.34147	0.719000	0.41307	6.712000	0.74681	2.749000	0.94314	0.650000	0.86243	GCT		0.463	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987		16	40	1	0	8.00594e-06	0.007413	1.42436e-05	16	40		
SYNPO2L	79933	broad.mit.edu	37	10	75407393	75407393	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:75407393C>T	ENST00000394810.2	-	4	2166	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.E449K	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	673	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCATCTTCTTCAGGACCAGAT	0.592																																						uc001jut.3		NaN																	0				ovary(1)	1						c.(2017-2019)GAA>AAA		synaptopodin 2-like isoform a							85.0	97.0	93.0					10																	75407393		2203	4300	6503	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75407393C>T	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2017G>A	10.37:g.75407393C>T	ENSP00000378289:p.Glu673Lys					SYNPO2L_uc001jus.3_Missense_Mutation_p.E449K	p.E673K	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN			4	2169	-	Prostate(51;0.0112)		673			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2017G>A	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388760	0.82902	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.33216	1.42;1.66	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.52403	0.1732	L	0.54323	1.7	0.53005	D	0.999969	D;D	0.76494	0.999;0.999	D;D	0.73380	0.955;0.98	T	0.50508	-0.8820	10	0.56958	D	0.05	-17.9946	18.7993	0.92010	0.0:1.0:0.0:0.0	.	673;449	Q9H987;Q9H987-2	SYP2L_HUMAN;.	K	449;673	ENSP00000361964:E449K;ENSP00000378289:E673K	ENSP00000361964:E449K	E	-	1	0	SYNPO2L	75077399	1.000000	0.71417	0.959000	0.39883	0.890000	0.51754	5.834000	0.69361	2.679000	0.91253	0.549000	0.68633	GAA		0.592	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2		NM_024875		44	120	0	0	0	0.00361	0	44	120		
ZSWIM8	23053	broad.mit.edu	37	10	75555297	75555297	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:75555297G>A	ENST00000605216.1	+	15	3111	c.2894G>A	c.(2893-2895)gGc>gAc	p.G965D	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000603114.1_Splice_Site_p.G932D|ZSWIM8_ENST00000604524.1_Splice_Site_p.G965D|ZSWIM8_ENST00000604729.1_Splice_Site_p.G970D|ZSWIM8_ENST00000398706.2_Splice_Site_p.G970D	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	965							zinc ion binding (GO:0008270)										TTTCTCGCAGGCATGAAGACA	0.488																																						uc009xrl.2		NaN																	0				breast(1)	1						c.(2893-2895)GGC>GAC		hypothetical protein LOC23053							164.0	160.0	161.0					10																	75555297		2006	4186	6192	SO:0001630	splice_region_variant	23053						zinc ion binding	g.chr10:75555297G>A	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2894-1G>A	10.37:g.75555297G>A						KIAA0913_uc001jve.2_Missense_Mutation_p.G970D|KIAA0913_uc001jvf.2_Missense_Mutation_p.G965D|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.G393D|KIAA0913_uc010qkr.1_Missense_Mutation_p.G388D|KIAA0913_uc001jvj.2_Missense_Mutation_p.G388D	p.G965D	NM_015037	NP_055852	A7E2V4	K0913_HUMAN			15	2926	+	Prostate(51;0.0112)		965					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.2894G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.524701|5.524701	0.96431|0.96431	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000412198;ENST00000425051|ENST00000398706	.|T	.|0.63744	.|-0.06	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.81564|0.81564	0.4849|0.4849	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.999	T|T	0.80783|0.80783	-0.1228|-0.1228	5|9	.|.	.|.	.|.	.|.	20.3213|20.3213	0.98679|0.98679	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|965;970;965;970	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.;.	T|D	240;144|970	.|ENSP00000381693:G970D	.|.	A|G	+|+	1|2	0|0	KIAA0913|KIAA0913	75225303|75225303	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	9.804000|9.804000	0.99143|0.99143	2.810000|2.810000	0.96702|0.96702	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.488	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1		NM_001242487	Missense_Mutation	42	107	0	0	0	0.00361	0	42	107		
AP3M1	26985	broad.mit.edu	37	10	75886013	75886013	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:75886013C>G	ENST00000355264.4	-	7	1215	c.904G>C	c.(904-906)Ggg>Cgg	p.G302R	AP3M1_ENST00000372745.1_Missense_Mutation_p.G302R	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	302	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					ATAGTTTTCCCCATATTCTGC	0.403																																						uc001jwf.2		NaN																	0					0						c.(904-906)GGG>CGG		adaptor-related protein complex 3, mu 1 subunit							229.0	190.0	203.0					10																	75886013		2203	4300	6503	SO:0001583	missense	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75886013C>G	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.904G>C	10.37:g.75886013C>G	ENSP00000347408:p.Gly302Arg					AP3M1_uc001jwg.2_Missense_Mutation_p.G302R|AP3M1_uc001jwh.2_Missense_Mutation_p.G302R|AP3M1_uc010qla.1_Missense_Mutation_p.G248R	p.G302R	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN			7	1334	-	Prostate(51;0.0112)		302			MHD.		Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	c.904G>C	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281961	0.95489	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.19806	2.12;2.12	5.63	5.63	0.86233	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	M	0.85859	2.78	0.80722	D	1	P;P	0.42357	0.489;0.777	B;P	0.56278	0.392;0.795	T	0.41928	-0.9481	10	0.38643	T	0.18	-12.0112	19.7096	0.96089	0.0:1.0:0.0:0.0	.	248;302	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	R	302	ENSP00000347408:G302R;ENSP00000361831:G302R	ENSP00000347408:G302R	G	-	1	0	AP3M1	75556019	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.652000	0.90054	0.655000	0.94253	GGG		0.403	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1				21	73	0	0	0	0.001882	0	21	73		
KCNMA1	3778	broad.mit.edu	37	10	78649235	78649235	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:78649235G>A	ENST00000286628.8	-	27	3434	c.3435C>T	c.(3433-3435)ctC>ctT	p.L1145L	RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000372440.1_Silent_p.L1087L|KCNMA1_ENST00000404771.3_Silent_p.L1145L|KCNMA1_ENST00000286627.5_Silent_p.L1087L|KCNMA1_ENST00000406533.3_Silent_p.L1149L|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404857.1_Silent_p.L1128L|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000372443.1_Silent_p.L1114L|KCNMA1_ENST00000354353.5_Silent_p.L1148L	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1145					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TGGGGGTGCTGAGGTGAGCAT	0.443																																						uc001jxn.2		NaN																	0				pancreas(2)|ovary(1)	3						c.(3433-3435)CTC>CTT		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						91.0	89.0	90.0					10																	78649235		2203	4300	6503	SO:0001819	synonymous_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78649235G>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3435C>T	10.37:g.78649235G>A						KCNMA1_uc001jxj.2_Silent_p.L1091L|KCNMA1_uc001jxk.1_Silent_p.L763L|KCNMA1_uc009xrt.1_Silent_p.L936L|KCNMA1_uc001jxl.1_Silent_p.L770L|KCNMA1_uc001jxo.2_Silent_p.L1128L|KCNMA1_uc001jxm.2_Silent_p.L1087L|KCNMA1_uc001jxq.2_Silent_p.L1117L|uc001jxp.2_Intron	p.L1145L	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		27	3612	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1145			Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37	c.3435C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.426|9.426	1.084279|1.084279	0.20309|0.20309	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372403	.|.	.|.	.|.	6.17|6.17	-1.94|-1.94	0.07571|0.07571	.|.	.|.	.|.	.|.	.|.	.|T	.|0.40473	.|0.1118	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.30475	.|-0.9977	.|4	.|.	.|.	.|.	-13.79|-13.79	2.5964|2.5964	0.04855|0.04855	0.3234:0.0827:0.4385:0.1554|0.3234:0.0827:0.4385:0.1554	.|.	.|.	.|.	.|.	X|L	1076;795|1038	.|.	.|.	Q|S	-|-	1|2	0|0	KCNMA1|KCNMA1	78319241|78319241	0.998000|0.998000	0.40836|0.40836	0.991000|0.991000	0.47740|0.47740	0.998000|0.998000	0.95712|0.95712	0.349000|0.349000	0.20055|0.20055	-0.021000|-0.021000	0.14009|0.14009	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.443	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3		NM_002247		18	54	0	0	0	0.008871	0	18	54		
CYP26C1	340665	broad.mit.edu	37	10	94824180	94824180	+	Missense_Mutation	SNP	G	G	T	rs373592351		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:94824180G>T	ENST00000285949.5	+	4	748	c.748G>T	c.(748-750)Gcc>Tcc	p.A250S		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	250					anterior/posterior pattern specification (GO:0009952)|central nervous system development (GO:0007417)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|organelle fusion (GO:0048284)|oxidation-reduction process (GO:0055114)|retinoic acid catabolic process (GO:0034653)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CCTGGAGGGGGCCATTTCTGA	0.612																																						uc010qns.1		NaN																	0				central_nervous_system(1)	1						c.(748-750)GCC>TCC		cytochrome P450, family 26, subfamily C,							65.0	62.0	63.0					10																	94824180		2203	4300	6503	SO:0001583	missense	340665				anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94824180G>T		CCDS7425.1	10q23.33	2003-11-20			ENSG00000187553	ENSG00000187553		"""Cytochrome P450s"""	20577	protein-coding gene	gene with protein product		608428					Standard	XR_246086		Approved		uc010qns.2	Q6V0L0	OTTHUMG00000018766	ENST00000285949.5:c.748G>T	10.37:g.94824180G>T	ENSP00000285949:p.Ala250Ser					CYP26C1_uc009xud.2_Intron	p.A250S	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN			4	748	+		Colorectal(252;0.122)	250					Q5VXH6	Missense_Mutation	SNP	ENST00000285949.5	37	c.748G>T	CCDS7425.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999487	0.35320	.	.	ENSG00000187553	ENST00000285949	T	0.68903	-0.36	5.33	5.33	0.75918	.	0.272209	0.40064	N	0.001185	T	0.73071	0.3540	L	0.39397	1.21	0.29220	N	0.874009	P	0.39480	0.675	P	0.53185	0.72	T	0.68284	-0.5449	10	0.39692	T	0.17	-8.9302	19.4465	0.94849	0.0:0.0:1.0:0.0	.	250	Q6V0L0	CP26C_HUMAN	S	250	ENSP00000285949:A250S	ENSP00000285949:A250S	A	+	1	0	CYP26C1	94814170	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	4.337000	0.59310	2.662000	0.90505	0.555000	0.69702	GCC		0.612	CYP26C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049409.2		NM_183374		8	25	1	0	5.4927e-09	0.004482	9.99045e-09	8	25		
HIF1AN	55662	broad.mit.edu	37	10	102295784	102295784	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:102295784C>T	ENST00000299163.6	+	1	169	c.69C>T	c.(67-69)ctC>ctT	p.L23L		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	23	Interaction with VHL.				cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		CTGGAGCCCTCGGCCCCGCCT	0.692											OREG0020442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001krj.3		NaN																	0					0						c.(67-69)CTC>CTT		hypoxia-inducible factor 1, alpha subunit							7.0	9.0	9.0					10																	102295784		2176	4250	6426	SO:0001819	synonymous_variant	55662				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding	g.chr10:102295784C>T	AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"""Peptide-aspartate beta-dioxygenase"""	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.69C>T	10.37:g.102295784C>T			OREG0020442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1365		p.L23L	NM_017902	NP_060372	Q9NWT6	HIF1N_HUMAN		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)	1	144	+		Colorectal(252;0.234)	23			Interaction with VHL.		D3DR69|Q5W147|Q969Q7|Q9NPV5	Silent	SNP	ENST00000299163.6	37	c.69C>T	CCDS7498.1																																																																																				0.692	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049865.5		NM_017902		3	4	0	0	0	0.004672	0	3	4		
SORCS3	22986	broad.mit.edu	37	10	106970924	106970924	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:106970924G>T	ENST00000369701.3	+	17	2518	c.2291G>T	c.(2290-2292)aGc>aTc	p.S764I	SORCS3_ENST00000369699.4_Missense_Mutation_p.S50I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	764					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.S764N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATGGGGAGAGCCAGTGTGTC	0.443																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NaN																	1	Substitution - Missense(1)	p.S764N(1)	ovary(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2290-2292)AGC>ATC		VPS10 domain receptor protein SORCS 3 precursor							114.0	95.0	102.0					10																	106970924		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106970924G>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2291G>T	10.37:g.106970924G>T	ENSP00000358715:p.Ser764Ile					SORCS3_uc010qqz.1_RNA	p.S764I	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	17	2518	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	764			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2291G>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016813	0.35606	.	.	ENSG00000156395	ENST00000369701;ENST00000393176;ENST00000369699	T;T;T	0.33865	2.39;1.39;1.42	5.93	2.57	0.30868	VPS10 (1);	0.222920	0.49305	D	0.000144	T	0.23688	0.0573	L	0.31664	0.95	0.31557	N	0.657962	P	0.44478	0.836	B	0.43386	0.418	T	0.15093	-1.0449	9	.	.	.	.	3.9291	0.09276	0.2022:0.5028:0.2949:0.0	.	764	Q9UPU3	SORC3_HUMAN	I	764;125;50	ENSP00000358715:S764I;ENSP00000376876:S125I;ENSP00000358713:S50I	.	S	+	2	0	SORCS3	106960914	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.320000	0.51991	0.779000	0.33543	0.655000	0.94253	AGC		0.443	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1		NM_014978		12	22	1	0	2.61681e-11	0.00245	4.83155e-11	12	22		
HABP2	3026	broad.mit.edu	37	10	115349525	115349525	+	IGR	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:115349525C>G	ENST00000351270.3	+	0	3009				NRAP_ENST00000359988.3_Missense_Mutation_p.R1663T|NRAP_ENST00000369360.3_Missense_Mutation_p.R1636T|NRAP_ENST00000369358.4_Missense_Mutation_p.R1671T|NRAP_ENST00000360478.3_Missense_Mutation_p.R1628T	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	GCCAACACCTCTGGTCAGGTT	0.542																																						uc001laj.2		NaN																	0				ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(4987-4989)AGA>ACA		nebulin-related anchoring protein isoform S							73.0	71.0	72.0					10																	115349525		2203	4300	6503	SO:0001628	intergenic_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115349525C>G		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073		10.37:g.115349525C>G						NRAP_uc009xyb.2_Missense_Mutation_p.R416T|NRAP_uc001lak.2_Missense_Mutation_p.R1628T|NRAP_uc001lal.3_Missense_Mutation_p.R1663T	p.R1663T	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	41	5152	-		Colorectal(252;0.0233)|Breast(234;0.188)	1663			Nebulin 44.		A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.4988G>C	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119941	0.77323	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.93	5.93	0.95920	.	0.092674	0.85682	D	0.000000	T	0.68183	0.2973	M	0.80616	2.505	0.32752	N	0.506291	D;P;P;P	0.89917	1.0;0.932;0.917;0.88	D;P;P;P	0.91635	0.999;0.854;0.772;0.854	T	0.77515	-0.2559	10	0.72032	D	0.01	.	10.6552	0.45671	0.0:0.8592:0.0:0.1408	.	785;1663;1628;1663	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	T	1671;1636;1663;1628;785	ENSP00000358365:R1671T;ENSP00000358367:R1636T;ENSP00000353078:R1663T;ENSP00000353666:R1628T	ENSP00000353078:R1663T	R	-	2	0	NRAP	115339515	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.459000	0.35234	2.826000	0.97356	0.655000	0.94253	AGA		0.542	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1		NM_004132		30	58	0	0	0	0.001786	0	30	58		
DMBT1	1755	broad.mit.edu	37	10	124392811	124392811	+	Missense_Mutation	SNP	G	G	C	rs112645522	byFrequency	TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:124392811G>C	ENST00000338354.3	+	49	6221	c.6115G>C	c.(6115-6117)Gag>Cag	p.E2039Q	DMBT1_ENST00000344338.3_Missense_Mutation_p.E2029Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.E1411Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.E1411Q|DMBT1_ENST00000359586.6_Missense_Mutation_p.E759Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.E2029Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.E2039Q			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2039	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGGGACATTGAGGTGCAAAA	0.512																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NaN																	0				central_nervous_system(7)	7						c.(6115-6117)GAG>CAG		deleted in malignant brain tumors 1 isoform b							153.0	149.0	150.0					10																	124392811		1982	4168	6150	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124392811G>C		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6115G>C	10.37:g.124392811G>C	ENSP00000342210:p.Glu2039Gln					DMBT1_uc001lgl.1_Missense_Mutation_p.E2029Q|DMBT1_uc001lgm.1_Missense_Mutation_p.E1411Q|DMBT1_uc009xzz.1_Missense_Mutation_p.E2038Q|DMBT1_uc010qtx.1_Missense_Mutation_p.E759Q|DMBT1_uc009yab.1_Missense_Mutation_p.E742Q|DMBT1_uc009yac.1_Missense_Mutation_p.E333Q	p.E2039Q	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			49	6221	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2039			CUB 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.6115G>C		.	.	.	.	.	.	.	.	.	.	G	2.451	-0.326290	0.05350	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.28	3.4	0.38934	CUB (5);	0.604873	0.13384	U	0.391867	T	0.20700	0.0498	N	0.13327	0.33	0.09310	N	1	D;B;P;B;P;P;P	0.89917	1.0;0.383;0.627;0.033;0.627;0.627;0.677	D;B;B;B;B;B;B	0.87578	0.998;0.095;0.295;0.027;0.295;0.295;0.42	T	0.18366	-1.0339	10	0.16896	T	0.51	.	8.7669	0.34708	0.0839:0.1522:0.7639:0.0	.	759;2019;1288;2168;1411;2029;2039	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	Q	2039;2168;2039;2039;2039;2038;1411;2029;1411;1411;2039;2029;1411;185;759	ENSP00000342210:E2039Q;ENSP00000343175:E2029Q;ENSP00000327747:E1411Q;ENSP00000357905:E2039Q;ENSP00000357951:E2029Q;ENSP00000357952:E1411Q;ENSP00000352593:E759Q	ENSP00000331522:E1411Q	E	+	1	0	DMBT1	124382801	0.937000	0.31787	0.073000	0.20177	0.164000	0.22412	1.314000	0.33597	0.597000	0.29811	0.563000	0.77884	GAG		0.512	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2		NM_004406		25	55	0	0	0	0.005443	0	25	55		
DOCK1	1793	broad.mit.edu	37	10	128798508	128798508	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:128798508G>A	ENST00000280333.6	+	10	1031	c.922G>A	c.(922-924)Gag>Aag	p.E308K	RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	308					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GGGTCGCATGGAGCTGAGGGA	0.453																																						uc001ljt.2		NaN																	0				central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(922-924)GAG>AAG		dedicator of cytokinesis 1							93.0	98.0	96.0					10																	128798508		1939	4155	6094	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128798508G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.922G>A	10.37:g.128798508G>A	ENSP00000280333:p.Glu308Lys					DOCK1_uc010qun.1_Missense_Mutation_p.E308K	p.E308K	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	10	986	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	308					A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.922G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.332834	0.95733	.	.	ENSG00000150760	ENST00000280333	T	0.18502	2.21	4.0	4.0	0.46444	.	0.056731	0.64402	D	0.000002	T	0.28134	0.0694	L	0.56124	1.755	0.80722	D	1	P;B	0.45176	0.852;0.257	P;B	0.49597	0.616;0.157	T	0.03287	-1.1052	10	0.49607	T	0.09	.	17.4311	0.87539	0.0:0.0:1.0:0.0	.	308;308	B2RUU3;Q14185	.;DOCK1_HUMAN	K	308	ENSP00000280333:E308K	ENSP00000280333:E308K	E	+	1	0	DOCK1	128688498	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.421000	0.97455	2.525000	0.85131	0.655000	0.94253	GAG		0.453	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2		NM_001380		11	37	0	0	0	0.000978	0	11	37		
ZNF511	118472	broad.mit.edu	37	10	135125328	135125328	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:135125328G>T	ENST00000359035.3	+	5	666	c.663G>T	c.(661-663)agG>agT	p.R221S	TUBGCP2_ENST00000417178.2_5'Flank|TUBGCP2_ENST00000368563.2_5'Flank|TUBGCP2_ENST00000470829.1_5'Flank|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000361518.5_Missense_Mutation_p.R221S|ZNF511_ENST00000368554.4_Missense_Mutation_p.R156S			Q8NB15	ZN511_HUMAN	zinc finger protein 511	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CAGGTGAGAGGCGGATCTACA	0.602																																						uc001lml.1		NaN																	0					0						c.(661-663)AGG>AGT		SubName: Full=cDNA FLJ78327; SubName: Full=Zinc finger protein 511, isoform CRA_d;							72.0	75.0	74.0					10																	135125328		2203	4300	6503	SO:0001583	missense	118472				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:135125328G>T	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.663G>T	10.37:g.135125328G>T	ENSP00000351929:p.Arg221Ser					TUBGCP2_uc001lmg.1_5'Flank|TUBGCP2_uc010qvc.1_5'Flank|TUBGCP2_uc009ybk.1_5'Flank|TUBGCP2_uc010qvd.1_5'Flank|TUBGCP2_uc001lmh.1_RNA|ZNF511_uc001lmj.1_Missense_Mutation_p.R221S|ZNF511_uc001lmk.1_3'UTR|ZNF511_uc001lmm.1_RNA	p.R221S			Q8NB15	ZN511_HUMAN		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)	5	688	+		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	221					A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP	ENST00000359035.3	37	c.663G>T		.	.	.	.	.	.	.	.	.	.	G	4.340	0.062604	0.08388	.	.	ENSG00000198546	ENST00000361518;ENST00000359035;ENST00000368554	D	0.88124	-2.34	3.57	1.7	0.24286	.	0.797101	0.11461	N	0.561775	D	0.83211	0.5205	M	0.67953	2.075	0.09310	N	1	P;P	0.42518	0.782;0.763	B;B	0.41174	0.349;0.121	T	0.69709	-0.5072	10	0.24483	T	0.36	-13.8113	5.4844	0.16741	0.356:0.0:0.644:0.0	.	221;221	Q8NB15;Q8NB15-2	ZN511_HUMAN;.	S	221;221;156	ENSP00000357542:R156S	ENSP00000351929:R221S	R	+	3	2	ZNF511	134975318	0.994000	0.37717	0.032000	0.17829	0.018000	0.09664	1.390000	0.34464	0.502000	0.28037	0.655000	0.94253	AGG		0.602	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1		NM_145806		19	72	1	0	0.000132079	0.008871	0.000230509	19	72		
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	T	rs104894230		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:534288C>T	ENST00000451590.1	-	2	222	c.35G>A	c.(34-36)gGc>gAc	p.G12D	HRAS_ENST00000397594.1_Missense_Mutation_p.G12D|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G12D|HRAS_ENST00000311189.7_Missense_Mutation_p.G12D|HRAS_ENST00000417302.1_Missense_Mutation_p.G12D	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in CSTLO). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854}.|G -> C (in CSTLO). {ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:18039947}.|G -> D (in CSTLO; severe mutation). {ECO:0000269|PubMed:18039947}.|G -> E (in CSTLO). {ECO:0000269|PubMed:16443854}.|G -> S (in CSTLO, OSCC and CMEMS). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:17054105, ECO:0000269|PubMed:17412879}.|G -> V (in CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:17412879}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCACACCGCCGGCGCCCAC	0.647	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2	G12V(T24_URINARY_TRACT)|G12D(HS578T_BREAST)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		309	Substitution - Missense(309)	p.G12V(250)|p.G12S(54)|p.G12D(40)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1)	urinary_tract(107)|thyroid(50)|skin(48)|upper_aerodigestive_tract(34)|soft_tissue(21)|stomach(14)|cervix(12)|salivary_gland(9)|breast(6)|pituitary(5)|oesophagus(1)|prostate(1)|bone(1)	urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749	GRCh37	CM053284|CM081305	HRAS	M	rs104894230	c.(34-36)GGC>GAC		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						78.0	74.0	75.0					11																	534288		2202	4300	6502	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534288C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.35G>A	11.37:g.534288C>T	ENSP00000407586:p.Gly12Asp	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.G12D|HRAS_uc010qvx.1_Missense_Mutation_p.G12D|HRAS_uc010qvy.1_RNA	p.G12D	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	223	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	12		G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS).	GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.35G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989265	0.53934	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84973	0.5591	M	0.92412	3.305	0.80722	D	1	P;P	0.35628	0.458;0.513	B;B	0.42827	0.278;0.399	D	0.89215	0.3567	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	12;12	P01112-2;P01112	.;RASH_HUMAN	D	12	ENSP00000380722:G12D;ENSP00000380723:G12D;ENSP00000407586:G12D;ENSP00000388246:G12D;ENSP00000309845:G12D	ENSP00000309845:G12D	G	-	2	0	HRAS	524288	1.000000	0.71417	0.323000	0.25347	0.281000	0.26958	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGC		0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2		NM_176795		8	30	0	0	0	0.006214	0	8	30		
PIDD1	55367	broad.mit.edu	37	11	802583	802583	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:802583G>T	ENST00000347755.5	-	5	1075	c.934C>A	c.(934-936)Cca>Aca	p.P312T	PIDD_ENST00000534649.1_5'Flank|PIDD_ENST00000411829.2_Missense_Mutation_p.P312T	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					GGCATTTCTGGAATGAGGGCT	0.587																																						uc001lro.1		NaN																	0					0						c.(934-936)CCA>ACA		leucine rich repeat and death domain containing							59.0	50.0	53.0					11																	802583		2202	4297	6499	SO:0001583	missense	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:802583G>T																												ENST00000347755.5:c.934C>A	11.37:g.802583G>T	ENSP00000337797:p.Pro312Thr					LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.P312T|LRDD_uc001lrl.1_Missense_Mutation_p.P166T|LRDD_uc001lrm.1_5'UTR|LRDD_uc001lrn.1_Missense_Mutation_p.P166T|LRDD_uc001lrp.1_5'UTR	p.P312T	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	1076	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	312						Missense_Mutation	SNP	ENST00000347755.5	37	c.934C>A	CCDS7716.1	.	.	.	.	.	.	.	.	.	.	G	9.272	1.045929	0.19748	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.42513	1.08;0.97	4.01	4.01	0.46588	.	0.910089	0.09286	N	0.823118	T	0.30665	0.0772	N	0.19112	0.55	0.09310	N	1	B;B;B	0.13594	0.003;0.004;0.008	B;B;B	0.13407	0.004;0.009;0.009	T	0.09422	-1.0675	10	0.39692	T	0.17	.	11.8091	0.52173	0.0:0.0:1.0:0.0	.	312;166;312	Q9HB75;Q9HB75-3;Q9HB75-2	PIDD_HUMAN;.;.	T	312	ENSP00000416801:P312T;ENSP00000337797:P312T	ENSP00000337797:P312T	P	-	1	0	PIDD	792583	0.003000	0.15002	0.003000	0.11579	0.165000	0.22458	1.299000	0.33424	2.254000	0.74563	0.555000	0.69702	CCA		0.587	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1				4	11	1	0	2.56e-06	0.000248	4.56564e-06	4	11		
TRIM21	6737	broad.mit.edu	37	11	4411526	4411526	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:4411526T>A	ENST00000254436.7	-	2	226	c.114A>T	c.(112-114)gaA>gaT	p.E38D	TRIM21_ENST00000543625.1_Missense_Mutation_p.E38D	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	38					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GAGAGATGCATTCCTGGCAGA	0.587																																						uc001lyy.1		NaN																	0				ovary(3)|lung(1)	4						c.(112-114)GAA>GAT		tripartite motif protein 21							90.0	93.0	92.0					11																	4411526		2142	4263	6405	SO:0001583	missense	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4411526T>A	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.114A>T	11.37:g.4411526T>A	ENSP00000254436:p.Glu38Asp						p.E38D	NM_003141	NP_003132	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	2	227	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	38			RING-type.		Q5XPV5|Q96RF8	Missense_Mutation	SNP	ENST00000254436.7	37	c.114A>T	CCDS44525.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.986980	0.53934	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	T;T	0.08193	3.12;3.12	4.32	-2.31	0.06765	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.761422	0.11698	N	0.538255	T	0.06096	0.0158	N	0.11789	0.175	0.19300	N	0.99997	P	0.47484	0.896	P	0.48952	0.596	T	0.32188	-0.9916	10	0.54805	T	0.06	.	5.6745	0.17741	0.0:0.2601:0.4371:0.3028	.	38	P19474	RO52_HUMAN	D	38	ENSP00000254436:E38D;ENSP00000444045:E38D	ENSP00000254436:E38D	E	-	3	2	TRIM21	4368102	0.000000	0.05858	0.185000	0.23176	0.758000	0.43043	-1.191000	0.03055	-0.427000	0.07350	0.459000	0.35465	GAA		0.587	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1		NM_003141		37	66	0	0	0	0.00623	0	37	66		
OR52L1	338751	broad.mit.edu	37	11	6008147	6008147	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:6008147G>C	ENST00000332249.4	-	1	68	c.14C>G	c.(13-15)tCt>tGt	p.S5C		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGAAAAAAGAAACCAAAGT	0.423																																					Melanoma(121;653 1666 10547 22796 51255)	uc001mcd.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(13-15)TCT>TGT		olfactory receptor, family 52, subfamily L,							47.0	47.0	47.0					11																	6008147		1852	4083	5935	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6008147G>C	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.14C>G	11.37:g.6008147G>C	ENSP00000330338:p.Ser5Cys						p.S5C	NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	69	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	5			Extracellular (Potential).		B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.14C>G	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054108	0.36277	.	.	ENSG00000183313	ENST00000332249	T	0.00006	9.72	3.8	-0.84	0.10755	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	P	0.47034	0.889	B	0.37780	0.258	T	0.00159	-1.1974	9	0.51188	T	0.08	.	3.8518	0.08959	0.3272:0.0:0.5014:0.1713	.	5	Q8NGH7	O52L1_HUMAN	C	5	ENSP00000330338:S5C	ENSP00000330338:S5C	S	-	2	0	OR52L1	5964723	0.000000	0.05858	0.018000	0.16275	0.621000	0.37620	0.037000	0.13840	-0.102000	0.12197	0.313000	0.20887	TCT		0.423	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1		NM_001005173		16	41	0	0	0	0.00499	0	16	41		
OR2D3	120775	broad.mit.edu	37	11	6943194	6943194	+	Missense_Mutation	SNP	T	T	C	rs373498599		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:6943194T>C	ENST00000317834.3	+	1	990	c.962T>C	c.(961-963)gTt>gCt	p.V321A		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	321						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(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGAAACTAGTTGGGAGAAAG	0.398																																						uc010rav.1		NaN																	0					0						c.(961-963)GTT>GCT		olfactory receptor, family 2, subfamily D,		T	ALA/VAL	0,4402		0,0,2201	61.0	64.0	63.0		962	-3.3	0.0	11		63	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR2D3	NM_001004684.1	64	0,1,6496	CC,CT,TT		0.0116,0.0,0.0077	benign	321/331	6943194	1,12993	2201	4296	6497	SO:0001583	missense	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6943194T>C	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.962T>C	11.37:g.6943194T>C	ENSP00000320560:p.Val321Ala						p.V321A	NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	962	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	321			Cytoplasmic (Potential).		B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	c.962T>C	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	T	6.448	0.450787	0.12223	0.0	1.16E-4	ENSG00000178358	ENST00000317834	T	0.38077	1.16	5.07	-3.28	0.05033	.	1.449860	0.04641	N	0.405390	T	0.23210	0.0561	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21415	-1.0246	10	0.29301	T	0.29	0.4826	6.779	0.23636	0.1369:0.2465:0.0:0.6166	.	321	Q8NGH3	OR2D3_HUMAN	A	321	ENSP00000320560:V321A	ENSP00000320560:V321A	V	+	2	0	OR2D3	6899770	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.551000	0.06027	-0.456000	0.07043	-1.601000	0.00813	GTT		0.398	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1		NM_001004684		14	30	0	0	0	0.001855	0	14	30		
E2F8	79733	broad.mit.edu	37	11	19256582	19256582	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:19256582C>T	ENST00000527884.1	-	5	707	c.475G>A	c.(475-477)Gat>Aat	p.D159N	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.D159N	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	159					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCACGATATCGTAAATGCGT	0.423																																						uc001mpm.2		NaN																	0				skin(1)	1						c.(475-477)GAT>AAT		E2F family member 8							76.0	66.0	70.0					11																	19256582		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19256582C>T		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.475G>A	11.37:g.19256582C>T	ENSP00000434199:p.Asp159Asn					E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.D159N	p.D159N	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN			5	997	-			159			Potential.		A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.475G>A	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	C	35	5.419009	0.96092	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024	T;T	0.61742	0.08;0.08	5.48	5.48	0.80851	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.85115	0.5623	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.90356	0.4370	10	0.87932	D	0	-19.1764	18.9664	0.92698	0.0:1.0:0.0:0.0	.	159	A0AVK6	E2F8_HUMAN	N	159	ENSP00000434199:D159N;ENSP00000250024:D159N	ENSP00000250024:D159N	D	-	1	0	E2F8	19213158	1.000000	0.71417	0.909000	0.35828	0.996000	0.88848	6.082000	0.71318	2.575000	0.86900	0.655000	0.94253	GAT		0.423	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1		NM_024680		9	21	0	0	0	0.008291	0	9	21		
COMMD9	29099	broad.mit.edu	37	11	36297787	36297787	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:36297787G>C	ENST00000263401.5	-	5	372	c.356C>G	c.(355-357)tCt>tGt	p.S119C	COMMD9_ENST00000452374.2_Missense_Mutation_p.S77C|COMMD9_ENST00000533308.1_5'Flank|COMMD9_ENST00000532705.1_Silent_p.L107L|LINC00610_ENST00000355500.1_lincRNA	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	119										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				GCGTGGCAGAGAGACTGTGGA	0.557																																						uc001mwn.3		NaN																	0				ovary(1)	1						c.(355-357)TCT>TGT		COMM domain containing 9 isoform 1							90.0	73.0	79.0					11																	36297787		2202	4298	6500	SO:0001583	missense	29099							g.chr11:36297787G>C	AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.356C>G	11.37:g.36297787G>C	ENSP00000263401:p.Ser119Cys					COMMD9_uc009ykj.2_Missense_Mutation_p.S77C|COMMD9_uc009yki.1_5'Flank	p.S119C	NM_014186	NP_054905	Q9P000	COMD9_HUMAN			5	393	-	all_lung(20;0.211)	all_hematologic(20;0.107)	119					E9PAN2|Q96FI2|Q9H0R0	Missense_Mutation	SNP	ENST00000263401.5	37	c.356C>G	CCDS7900.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394373	0.83011	.	.	ENSG00000110442	ENST00000263401;ENST00000537683;ENST00000452374	T;T	0.10573	2.86;2.86	5.73	4.82	0.62117	.	0.048985	0.85682	D	0.000000	T	0.37019	0.0988	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.35425	-0.9789	10	0.72032	D	0.01	-19.0372	13.7846	0.63102	0.0753:0.0:0.9247:0.0	.	77;119	Q9P000-2;Q9P000	.;COMD9_HUMAN	C	119;119;77	ENSP00000263401:S119C;ENSP00000392510:S77C	ENSP00000263401:S119C	S	-	2	0	COMMD9	36254363	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.331000	0.90022	1.417000	0.47077	0.563000	0.77884	TCT		0.557	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389196.1		NM_014186		12	32	0	0	0	0.001855	0	12	32		
TNKS1BP1	85456	broad.mit.edu	37	11	57075938	57075938	+	Nonsense_Mutation	SNP	G	G	T	rs141792675	byFrequency	TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:57075938G>T	ENST00000532437.1	-	5	4558	c.4247C>A	c.(4246-4248)tCg>tAg	p.S1416*	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.S1416*			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1416	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CAAGGAAGACGAGGAGTAATC	0.607																																						uc001njr.2		NaN																	0				skin(1)	1						c.(4246-4248)TCG>TAG		tankyrase 1-binding protein 1							198.0	206.0	203.0					11																	57075938		2201	4296	6497	SO:0001587	stop_gained	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57075938G>T	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4247C>A	11.37:g.57075938G>T	ENSP00000437271:p.Ser1416*					TNKS1BP1_uc001njs.2_Nonsense_Mutation_p.S1416*|TNKS1BP1_uc009ymd.1_Nonsense_Mutation_p.S867*	p.S1416*	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			5	4559	-		all_epithelial(135;0.21)	1416			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Nonsense_Mutation	SNP	ENST00000532437.1	37	c.4247C>A	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	41	8.996345	0.99029	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	.	.	.	4.63	-3.62	0.04543	.	2.173590	0.02578	N	0.098545	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	5.6049	1.6056	0.02683	0.3996:0.133:0.3326:0.1348	.	.	.	.	X	1416	.	ENSP00000350990:S1416X	S	-	2	0	TNKS1BP1	56832514	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.241000	0.08940	-0.487000	0.06735	-0.367000	0.07326	TCG		0.607	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1		NM_033396		32	219	1	0	3.1745e-13	0.008361	5.90585e-13	32	219		
OR5A1	219982	broad.mit.edu	37	11	59211229	59211229	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:59211229C>T	ENST00000302030.2	+	1	613	c.588C>T	c.(586-588)ttC>ttT	p.F196F		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTGACACCTTCCTCAGTCAAG	0.512																																						uc001nnx.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(586-588)TTC>TTT		olfactory receptor, family 5, subfamily A,							214.0	210.0	211.0					11																	59211229		2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211229C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.588C>T	11.37:g.59211229C>T							p.F196F	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	588	+			196			Extracellular (Potential).		B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.588C>T	CCDS31561.1																																																																																				0.512	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1		NM_001004728		66	142	0	0	0	0.00361	0	66	142		
OR5A1	219982	broad.mit.edu	37	11	59211279	59211279	+	Nonsense_Mutation	SNP	C	C	A	rs574597111		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:59211279C>A	ENST00000302030.2	+	1	663	c.638C>A	c.(637-639)tCg>tAg	p.S213*		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S213L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GGAGGAACATCGTTCCTCCAA	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20514	0.0		0.0	False		,,,				2504	0.0					uc001nnx.1		NaN																	1	Substitution - Missense(1)		skin(1)	ovary(1)|central_nervous_system(1)	2						c.(637-639)TCG>TAG		olfactory receptor, family 5, subfamily A,							226.0	212.0	217.0					11																	59211279		2201	4295	6496	SO:0001587	stop_gained	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211279C>A	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.638C>A	11.37:g.59211279C>A	ENSP00000303096:p.Ser213*						p.S213*	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	638	+			213			Helical; Name=5; (Potential).		B9EH58|Q6IFF2|Q96RB1	Nonsense_Mutation	SNP	ENST00000302030.2	37	c.638C>A	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778838	0.49891	.	.	ENSG00000172320	ENST00000302030	.	.	.	5.98	5.98	0.97165	.	0.148247	0.31438	N	0.007653	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1382	19.0362	0.92980	0.0:1.0:0.0:0.0	.	.	.	.	X	213	.	ENSP00000303096:S213X	S	+	2	0	OR5A1	58967855	0.000000	0.05858	0.825000	0.32803	0.044000	0.14063	0.784000	0.26816	2.835000	0.97688	0.650000	0.86243	TCG		0.542	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1		NM_001004728		47	98	1	0	4.00472e-15	0.00361	7.50757e-15	47	98		
GANAB	23193	broad.mit.edu	37	11	62396347	62396347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:62396347G>A	ENST00000356638.3	-	17	2090	c.2074C>T	c.(2074-2076)Cag>Tag	p.Q692*	GANAB_ENST00000540933.1_Nonsense_Mutation_p.Q595*|GANAB_ENST00000534779.1_Nonsense_Mutation_p.Q600*|GANAB_ENST00000346178.4_Nonsense_Mutation_p.Q714*	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	692					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TCATTGTGCTGAGATGGTAAC	0.547																																					Melanoma(23;1005 1074 15747 18937)	uc001nub.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2074-2076)CAG>TAG		neutral alpha-glucosidase AB isoform 2							179.0	157.0	165.0					11																	62396347		2202	4299	6501	SO:0001587	stop_gained	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62396347G>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2074C>T	11.37:g.62396347G>A	ENSP00000349053:p.Gln692*					GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Nonsense_Mutation_p.Q714*|GANAB_uc001nuc.2_Nonsense_Mutation_p.Q595*|GANAB_uc010rma.1_Nonsense_Mutation_p.Q600*|GANAB_uc010rmb.1_Nonsense_Mutation_p.Q578*	p.Q692*	NM_198334	NP_938148	Q14697	GANAB_HUMAN			17	2107	-			692					A6NC20|Q8WTS9|Q9P0X0	Nonsense_Mutation	SNP	ENST00000356638.3	37	c.2074C>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025358	0.75390	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	.	.	.	5.05	4.1	0.47936	.	0.184720	0.45606	D	0.000354	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-20.3381	6.4123	0.21698	0.0992:0.1993:0.7015:0.0	.	.	.	.	X	714;692;600;595	.	ENSP00000340466:Q714X	Q	-	1	0	GANAB	62152923	1.000000	0.71417	0.772000	0.31596	0.423000	0.31445	3.767000	0.55288	2.641000	0.89580	0.561000	0.74099	CAG		0.547	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1		NM_198334		40	101	0	0	0	0.006999	0	40	101		
NPAS4	266743	broad.mit.edu	37	11	66192075	66192075	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:66192075G>A	ENST00000311034.2	+	7	1890	c.1714G>A	c.(1714-1716)Gag>Aag	p.E572K		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	572					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TTTTCTCTATGAGAAGTTGCC	0.602																																						uc001ohx.1		NaN																	0					0						c.(1714-1716)GAG>AAG		neuronal PAS domain protein 4							93.0	101.0	98.0					11																	66192075		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192075G>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1714G>A	11.37:g.66192075G>A	ENSP00000311196:p.Glu572Lys					NPAS4_uc010rpc.1_Missense_Mutation_p.E362K	p.E572K	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	1890	+			572					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.1714G>A	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149265	0.78001	.	.	ENSG00000174576	ENST00000311034	T	0.24538	1.85	4.69	4.69	0.59074	.	0.000000	0.56097	D	0.000028	T	0.37265	0.0997	L	0.27053	0.805	0.58432	D	0.999994	D	0.63880	0.993	D	0.70935	0.971	T	0.18147	-1.0346	10	0.59425	D	0.04	-11.2555	15.1587	0.72764	0.0:0.0:1.0:0.0	.	572	Q8IUM7	NPAS4_HUMAN	K	572	ENSP00000311196:E572K	ENSP00000311196:E572K	E	+	1	0	NPAS4	65948651	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.221000	0.89774	2.443000	0.82685	0.655000	0.94253	GAG		0.602	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1		NM_178864		35	115	0	0	0	0.005524	0	35	115		
RBM14	10432	broad.mit.edu	37	11	66384516	66384516	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:66384516G>C	ENST00000310137.4	+	1	464	c.325G>C	c.(325-327)Gac>Cac	p.D109H	RNU4-39P_ENST00000362455.1_RNA|RBM14_ENST00000443702.1_Missense_Mutation_p.D109H|RBM14_ENST00000409372.1_Missense_Mutation_p.D109H|RBM4_ENST00000514361.3_Missense_Mutation_p.D109H|RBM14_ENST00000393979.3_Missense_Mutation_p.D109H|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.D109H|RBM14-RBM4_ENST00000500635.2_Missense_Mutation_p.D109H|RBM14_ENST00000409738.4_Missense_Mutation_p.D109H|RBM4_ENST00000503028.2_5'UTR	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	109	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CATCGAGTGTGACGTGGTGAA	0.652																																						uc001oit.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(325-327)GAC>CAC		RNA binding motif protein 14							36.0	43.0	41.0					11																	66384516		2154	4207	6361	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66384516G>C	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.325G>C	11.37:g.66384516G>C	ENSP00000311747:p.Asp109His					RBM14_uc009yrh.2_Missense_Mutation_p.D109H|RBM14_uc009yri.2_Missense_Mutation_p.D109H|RBM4_uc009yrj.2_5'UTR|RBM4_uc009yrk.2_Missense_Mutation_p.D109H	p.D109H	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN			1	464	+			109			RRM 2.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.325G>C	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145064	0.94603	.	.	ENSG00000239306;ENSG00000239306;ENSG00000239306;ENSG00000239306;ENSG00000239306;ENSG00000248643;ENSG00000248643	ENST00000310137;ENST00000393979;ENST00000409372;ENST00000443702;ENST00000409738;ENST00000412278;ENST00000500635	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.19	5.19	0.71726	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.076087	0.51477	D	0.000086	T	0.38081	0.1027	L	0.52823	1.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.987;1.0	D;D;D;D	0.91635	0.997;0.999;0.954;0.999	T	0.05801	-1.0863	10	0.54805	T	0.06	-9.3396	16.1953	0.82023	0.0:0.0:1.0:0.0	.	109;109;109;109	B0LM41;Q96PK6-2;Q2PYN1;Q96PK6	.;.;.;RBM14_HUMAN	H	109	ENSP00000311747:D109H;ENSP00000377548:D109H;ENSP00000386518:D109H;ENSP00000414650:D109H;ENSP00000386995:D109H;ENSP00000388552:D109H;ENSP00000421279:D109H	ENSP00000311747:D109H	D	+	1	0	RBM14;RBM14-RBM4	66141092	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.998000	0.93550	2.436000	0.82500	0.561000	0.74099	GAC		0.652	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1		NM_006328		16	43	0	0	0	0.006122	0	16	43		
TBC1D10C	374403	broad.mit.edu	37	11	67173129	67173129	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:67173129C>G	ENST00000542590.1	+	4	438	c.424C>G	c.(424-426)Caa>Gaa	p.Q142E	TBC1D10C_ENST00000526387.1_Missense_Mutation_p.Q142E|TBC1D10C_ENST00000312390.5_Missense_Mutation_p.Q142E			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	142	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTGCACCGTCAATTCCCTCT	0.647																																						uc001ola.2		NaN																	0					0						c.(424-426)CAA>GAA		TBC1 domain family, member 10C							98.0	94.0	95.0					11																	67173129		2200	4295	6495	SO:0001583	missense	374403					intracellular	Rab GTPase activator activity	g.chr11:67173129C>G	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.424C>G	11.37:g.67173129C>G	ENSP00000443654:p.Gln142Glu					PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_Missense_Mutation_p.Q142E|TBC1D10C_uc001olb.2_RNA	p.Q142E	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		5	453	+			142			Rab-GAP TBC.		G3V1D6	Missense_Mutation	SNP	ENST00000542590.1	37	c.424C>G	CCDS8162.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123707	0.56613	.	.	ENSG00000175463	ENST00000526387;ENST00000312390;ENST00000542590	T;T;T	0.11063	3.69;2.81;2.81	4.86	4.86	0.63082	Rab-GAP/TBC domain (4);	0.000000	0.47093	D	0.000257	T	0.36248	0.0960	M	0.80183	2.485	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.75484	0.986;0.984	T	0.27157	-1.0082	10	0.72032	D	0.01	.	16.749	0.85480	0.0:1.0:0.0:0.0	.	142;142	Q8IV04;G3V1D6	TB10C_HUMAN;.	E	142	ENSP00000435543:Q142E;ENSP00000310193:Q142E;ENSP00000443654:Q142E	ENSP00000310193:Q142E	Q	+	1	0	TBC1D10C	66929705	1.000000	0.71417	0.998000	0.56505	0.183000	0.23260	6.001000	0.70685	2.245000	0.73994	0.455000	0.32223	CAA		0.647	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2		NM_198517		16	41	0	0	0	0.00499	0	16	41		
GSTP1	2950	broad.mit.edu	37	11	67353675	67353675	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:67353675G>T	ENST00000398606.3	+	6	686	c.437G>T	c.(436-438)gGa>gTa	p.G146V	GSTP1_ENST00000398603.1_Intron|GSTP1_ENST00000498765.1_3'UTR	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	146	GST C-terminal.				cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	TTCATTGTGGGAGACCAGGTG	0.567																																						uc001omf.2		NaN																	0				ovary(1)	1						c.(436-438)GGA>GTA		glutathione transferase	Ethacrynic acid(DB00903)|Glutathione(DB00143)						44.0	47.0	46.0					11																	67353675		2111	4230	6341	SO:0001583	missense	2950				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding	g.chr11:67353675G>T	U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.437G>T	11.37:g.67353675G>T	ENSP00000381607:p.Gly146Val					GSTP1_uc001omg.1_Missense_Mutation_p.G127V	p.G146V	NM_000852	NP_000843	P09211	GSTP1_HUMAN			6	686	+			146			GST C-terminal.		O00460|Q15690|Q5TZY3	Missense_Mutation	SNP	ENST00000398606.3	37	c.437G>T	CCDS41679.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522095	0.64747	.	.	ENSG00000084207	ENST00000398606	T	0.54071	0.59	5.29	5.29	0.74685	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.136202	0.46758	D	0.000262	T	0.76278	0.3965	H	0.94503	3.545	0.51482	D	0.999925	P	0.41597	0.756	P	0.53912	0.737	D	0.84812	0.0791	9	0.87932	D	0	-29.1315	14.4288	0.67236	0.0:0.0:1.0:0.0	.	146	P09211	GSTP1_HUMAN	V	146	ENSP00000381607:G146V	ENSP00000381607:G146V	G	+	2	0	GSTP1	67110251	1.000000	0.71417	0.958000	0.39756	0.656000	0.38851	5.536000	0.67180	2.459000	0.83118	0.557000	0.71058	GGA		0.567	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268504.1		NM_000852		9	16	1	0	2.17888e-05	0.006214	3.83922e-05	9	16		
SERPINH1	871	broad.mit.edu	37	11	75277666	75277666	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:75277666C>T	ENST00000524558.1	+	2	1707	c.272C>T	c.(271-273)tCg>tTg	p.S91L	SERPINH1_ENST00000358171.3_Missense_Mutation_p.S91L|SERPINH1_ENST00000533603.1_Missense_Mutation_p.S91L|SERPINH1_ENST00000525876.1_5'Flank|SERPINH1_ENST00000530284.1_Missense_Mutation_p.S91L			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	91					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					ACCACGGCGTCGCAGGCCAAG	0.701																																						uc001owr.2		NaN																	0				ovary(2)	2						c.(271-273)TCG>TTG		serine (or cysteine) proteinase inhibitor, clade							33.0	25.0	27.0					11																	75277666		2196	4288	6484	SO:0001583	missense	871				regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75277666C>T	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.272C>T	11.37:g.75277666C>T	ENSP00000434412:p.Ser91Leu					SERPINH1_uc009yuf.2_Missense_Mutation_p.S91L|SERPINH1_uc009yug.2_Missense_Mutation_p.S91L|SERPINH1_uc001ows.2_Missense_Mutation_p.S91L|SERPINH1_uc001owt.2_5'Flank	p.S91L	NM_001235	NP_001226	P50454	SERPH_HUMAN			2	501	+	Ovarian(111;0.11)		91					B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	ENST00000524558.1	37	c.272C>T	CCDS8239.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248084	0.95305	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000526242;ENST00000526397;ENST00000421448;ENST00000529643;ENST00000525492;ENST00000530284;ENST00000532356;ENST00000524558;ENST00000528990;ENST00000533449;ENST00000525611;ENST00000528760	D;D;D;D;D;D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.28	5.28	0.74379	Serpin domain (3);	0.177000	0.51477	D	0.000091	D	0.89993	0.6876	M	0.74258	2.255	0.80722	D	1	D;D	0.69078	0.997;0.98	P;P	0.55545	0.778;0.532	D	0.90993	0.4836	10	0.62326	D	0.03	.	16.4242	0.83809	0.0:1.0:0.0:0.0	.	91;91	E9PPV6;P50454	.;SERPH_HUMAN	L	91;91;66;91;91;91;44;91;91;91;91;91;91;91	ENSP00000434657:S91L;ENSP00000350894:S91L;ENSP00000431384:S66L;ENSP00000434964:S91L;ENSP00000435936:S91L;ENSP00000434482:S44L;ENSP00000436305:S91L;ENSP00000436040:S91L;ENSP00000434412:S91L;ENSP00000431827:S91L;ENSP00000435452:S91L;ENSP00000437108:S91L	ENSP00000350894:S91L	S	+	2	0	SERPINH1	74955314	1.000000	0.71417	0.088000	0.20740	0.958000	0.62258	7.766000	0.85320	2.470000	0.83445	0.563000	0.77884	TCG		0.701	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1		NM_004353		6	19	0	0	0	0.001168	0	6	19		
DLG2	1740	broad.mit.edu	37	11	83641425	83641425	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:83641425G>C	ENST00000532653.1	-	10	1429	c.1127C>G	c.(1126-1128)tCa>tGa	p.S376*	DLG2_ENST00000280241.8_Nonsense_Mutation_p.S415*|DLG2_ENST00000531015.1_Nonsense_Mutation_p.S343*|DLG2_ENST00000537455.1_Nonsense_Mutation_p.S130*|DLG2_ENST00000524982.1_Nonsense_Mutation_p.S376*|DLG2_ENST00000543673.1_Nonsense_Mutation_p.S481*|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000398309.2_Nonsense_Mutation_p.S376*|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000398301.2_Nonsense_Mutation_p.S415*|DLG2_ENST00000376104.2_Nonsense_Mutation_p.S481*|DLG2_ENST00000330014.6_Nonsense_Mutation_p.S315*			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ATAGGGAGCTGAGAGGAGGAA	0.512																																						uc001paj.2		NaN																	0				ovary(3)|pancreas(2)|skin(1)	6						c.(1126-1128)TCA>TGA		chapsyn-110 isoform 2							160.0	171.0	167.0					11																	83641425		2081	4205	6286	SO:0001587	stop_gained	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83641425G>C	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1127C>G	11.37:g.83641425G>C	ENSP00000435849:p.Ser376*					DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Nonsense_Mutation_p.S343*|DLG2_uc010rsz.1_Nonsense_Mutation_p.S376*|DLG2_uc010rta.1_Nonsense_Mutation_p.S376*|DLG2_uc001pak.2_Nonsense_Mutation_p.S481*|DLG2_uc010rtb.1_Nonsense_Mutation_p.S343*|DLG2_uc001pal.1_Nonsense_Mutation_p.S376*|DLG2_uc001pam.1_Nonsense_Mutation_p.S415*	p.S376*	NM_001364	NP_001355	Q15700	DLG2_HUMAN			10	1430	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	376					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Nonsense_Mutation	SNP	ENST00000532653.1	37	c.1127C>G		.	.	.	.	.	.	.	.	.	.	G	38	7.026020	0.98010	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	.	.	.	5.88	4.94	0.65067	.	0.000000	0.47455	D	0.000224	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0924	0.86625	0.0:0.1263:0.8737:0.0	.	.	.	.	X	376;481;481;415;315;130;376;376;481;343;415	.	.	S	-	2	0	DLG2	83319073	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.407000	0.80029	2.782000	0.95742	0.655000	0.94253	TCA		0.512	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2		NM_001364		19	51	0	0	0	0.001882	0	19	51		
TYR	7299	broad.mit.edu	37	11	89028453	89028453	+	Silent	SNP	G	G	A	rs138750983	byFrequency	TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:89028453G>A	ENST00000263321.5	+	5	2011	c.1509G>A	c.(1507-1509)aaG>aaA	p.K503K		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	503					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GTCGTCACAAGAGAAAGCAGC	0.532																																						uc001pcs.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1507-1509)AAG>AAA		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						21.0	23.0	22.0					11																	89028453		2199	4295	6494	SO:0001819	synonymous_variant	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:89028453G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1509G>A	11.37:g.89028453G>A							p.K503K	NM_000372	NP_000363	P14679	TYRO_HUMAN			5	1591	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	503			Cytoplasmic (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	ENST00000263321.5	37	c.1509G>A	CCDS8284.1																																																																																				0.532	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2		NM_000372		8	26	0	0	0	0.004482	0	8	26		
DYNC2H1	79659	broad.mit.edu	37	11	103041631	103041631	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:103041631C>T	ENST00000375735.2	+	34	5312	c.5168C>T	c.(5167-5169)tCa>tTa	p.S1723L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.S1723L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1723	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATGTGAAGTCAATGGGACGA	0.323																																						uc001pho.2		NaN																	0					0						c.(5167-5169)TCA>TTA		dynein, cytoplasmic 2, heavy chain 1							186.0	163.0	170.0					11																	103041631		1827	4083	5910	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103041631C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5168C>T	11.37:g.103041631C>T	ENSP00000364887:p.Ser1723Leu					DYNC2H1_uc001phn.1_Missense_Mutation_p.S1723L|DYNC2H1_uc009yxe.1_Intron	p.S1723L	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	34	5312	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1723			AAA 1 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.5168C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892262	0.91889	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.39787	1.06;1.06	4.92	4.92	0.64577	ATPase, AAA+ type, core (1);	1.694730	0.04256	N	0.339454	T	0.75413	0.3846	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.63721	-0.6573	10	0.72032	D	0.01	.	18.4867	0.90831	0.0:1.0:0.0:0.0	.	1723;1723	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	L	1723	ENSP00000364887:S1723L;ENSP00000381167:S1723L	ENSP00000364887:S1723L	S	+	2	0	DYNC2H1	102546841	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.772000	0.85439	2.432000	0.82394	0.650000	0.86243	TCA		0.323	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1		XM_370652		7	20	0	0	0	0.001984	0	7	20		
DDI1	414301	broad.mit.edu	37	11	103908506	103908506	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:103908506C>G	ENST00000302259.3	+	1	1199	c.956C>G	c.(955-957)tCc>tGc	p.S319C	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	319							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGCTCTTTCTCCATACTTGAG	0.453																																						uc001phr.2		NaN																	0				large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(955-957)TCC>TGC		DDI1, DNA-damage inducible 1, homolog 1							135.0	126.0	129.0					11																	103908506		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908506C>G		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.956C>G	11.37:g.103908506C>G	ENSP00000302805:p.Ser319Cys					PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.S319C	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1199	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	319					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.956C>G	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837508	0.50951	.	.	ENSG00000170967	ENST00000302259	T	0.46451	0.87	5.21	2.23	0.28157	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.057495	0.64402	N	0.000001	T	0.61311	0.2337	M	0.80847	2.515	0.44175	D	0.996981	D	0.89917	1.0	D	0.77557	0.99	T	0.61633	-0.7023	10	0.72032	D	0.01	-15.7847	8.865	0.35280	0.0:0.6592:0.2602:0.0806	.	319	Q8WTU0	DDI1_HUMAN	C	319	ENSP00000302805:S319C	ENSP00000302805:S319C	S	+	2	0	DDI1	103413716	1.000000	0.71417	0.403000	0.26384	0.636000	0.38137	4.355000	0.59424	0.417000	0.25871	0.655000	0.94253	TCC		0.453	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1		NM_001001711		33	86	0	0	0	0.002836	0	33	86		
CADM1	23705	broad.mit.edu	37	11	115085457	115085457	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:115085457G>C	ENST00000452722.3	-	7	885	c.865C>G	c.(865-867)Caa>Gaa	p.Q289E	CADM1_ENST00000331581.6_Missense_Mutation_p.Q289E|CADM1_ENST00000536727.1_Missense_Mutation_p.Q289E|CADM1_ENST00000537058.1_Missense_Mutation_p.Q289E|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000542447.2_Missense_Mutation_p.Q289E	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ACGGCGTGTTGAGGCATTTCA	0.473																																						uc001ppi.3		NaN																	0				ovary(2)	2						c.(865-867)CAA>GAA		immunoglobulin superfamily, member 4D isoform 1							244.0	208.0	220.0					11																	115085457		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115085457G>C	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.865C>G	11.37:g.115085457G>C	ENSP00000395359:p.Gln289Glu					CADM1_uc001ppf.3_Missense_Mutation_p.Q289E|CADM1_uc001ppk.3_Missense_Mutation_p.Q289E|CADM1_uc001ppj.3_Missense_Mutation_p.Q289E|CADM1_uc001ppl.2_Missense_Mutation_p.Q289E|CADM1_uc001pph.3_Missense_Mutation_p.Q41E	p.Q289E	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	7	994	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	289			Ig-like C2-type 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000452722.3	37	c.865C>G	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.805|2.805	-0.248175|-0.248175	0.05867|0.05867	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581|ENST00000545380	T;T;T;T;T|.	0.65364|.	-0.15;-0.15;-0.15;-0.15;-0.15|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.199774|.	0.45361|.	D|.	0.000380|.	T|.	0.34687|.	0.0906|.	N|N	0.03881|0.03881	-0.34|-0.34	0.35978|0.35978	D|D	0.835793|0.835793	B;B;B;B;B|.	0.18610|.	0.029;0.007;0.009;0.0;0.011|.	B;B;B;B;B|.	0.15870|.	0.008;0.005;0.014;0.007;0.004|.	T|.	0.44711|.	-0.9310|.	10|.	0.02654|.	T|.	1|.	.|.	15.1897|15.1897	0.73035|0.73035	0.0:0.1403:0.8597:0.0|0.0:0.1403:0.8597:0.0	.|.	289;289;290;289;289|.	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1|.	.;.;.;CADM1_HUMAN;.|.	E|X	289;289;289;289;248;289|287	ENSP00000439176:Q289E;ENSP00000395359:Q289E;ENSP00000439817:Q289E;ENSP00000440322:Q289E;ENSP00000329797:Q289E|.	ENSP00000329797:Q289E|.	Q|S	-|-	1|2	0|0	CADM1|CADM1	114590667|114590667	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	2.826000|2.826000	0.48104|0.48104	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.473	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2		NM_014333		28	71	0	0	0	0.002836	0	28	71		
CD3E	916	broad.mit.edu	37	11	118185207	118185207	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:118185207G>C	ENST00000361763.4	+	8	856	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	CD3E_ENST00000528600.1_Missense_Mutation_p.E183Q	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	189	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	CCCAGACTATGAGGTAACGTG	0.557																																						uc001psq.3		NaN																	0				ovary(2)	2						c.(565-567)GAG>CAG		CD3E antigen, epsilon polypeptide precursor	Muromonab(DB00075)						70.0	53.0	59.0					11																	118185207		2200	4296	6496	SO:0001583	missense	916				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity	g.chr11:118185207G>C	X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"""CD molecules"""	1674	protein-coding gene	gene with protein product		186830	"""CD3e antigen, epsilon polypeptide (TiT3 complex)"""				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.565G>C	11.37:g.118185207G>C	ENSP00000354566:p.Glu189Gln						p.E189Q	NM_000733	NP_000724	P07766	CD3E_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	8	821	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	189			Cytoplasmic (Potential).|ITAM.		A8K997	Missense_Mutation	SNP	ENST00000361763.4	37	c.565G>C	CCDS31685.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214974	0.79352	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	T;T	0.39229	1.09;1.09	4.76	4.76	0.60689	.	0.061077	0.64402	D	0.000005	T	0.56934	0.2019	M	0.68952	2.095	0.53005	D	0.999962	D	0.89917	1.0	D	0.97110	1.0	T	0.52049	-0.8627	10	0.07990	T	0.79	-5.59	13.4644	0.61245	0.0:0.0:1.0:0.0	.	189	P07766	CD3E_HUMAN	Q	189;183	ENSP00000354566:E189Q;ENSP00000433975:E183Q	ENSP00000354566:E189Q	E	+	1	0	CD3E	117690417	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.881000	0.63114	2.629000	0.89072	0.561000	0.74099	GAG		0.557	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1		NM_000733		9	14	0	0	0	0.004482	0	9	14		
ABCG4	64137	broad.mit.edu	37	11	119029009	119029009	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:119029009C>G	ENST00000449422.2	+	10	1322	c.1134C>G	c.(1132-1134)ttC>ttG	p.F378L	ABCG4_ENST00000531739.1_Missense_Mutation_p.F378L|ABCG4_ENST00000307417.3_Missense_Mutation_p.F378L|AP002956.1_ENST00000599663.1_5'Flank	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	378					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCATCCTCTTCAAGAGGACCT	0.577																																						uc001pvs.2		NaN																	0				ovary(2)	2						c.(1132-1134)TTC>TTG		ATP-binding cassette, subfamily G, member 4							256.0	234.0	241.0					11																	119029009		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119029009C>G	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1134C>G	11.37:g.119029009C>G	ENSP00000406874:p.Phe378Leu					ABCG4_uc009zar.2_Missense_Mutation_p.F378L	p.F378L	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	10	1470	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	378			Cytoplasmic (Potential).		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1134C>G	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	36	5.804012	0.96967	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739;ENST00000534402	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.46	5.46	0.80206	ABC-2 type transporter (1);	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	N	0.03324	-0.35	0.80722	D	1	B	0.20780	0.048	B	0.21708	0.036	T	0.47971	-0.9075	10	0.02654	T	1	-31.7306	18.8978	0.92430	0.0:1.0:0.0:0.0	.	378	Q9H172	ABCG4_HUMAN	L	378;378;378;56	ENSP00000304111:F378L;ENSP00000406874:F378L;ENSP00000434318:F378L;ENSP00000434571:F56L	ENSP00000304111:F378L	F	+	3	2	ABCG4	118534219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.967000	0.63722	2.542000	0.85734	0.557000	0.71058	TTC		0.577	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1		NM_022169		94	183	0	0	0	0.00361	0	94	183		
TECTA	7007	broad.mit.edu	37	11	120980049	120980049	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:120980049G>C	ENST00000392793.1	+	4	599	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	TECTA_ENST00000264037.2_Missense_Mutation_p.E110Q			O75443	TECTA_HUMAN	tectorin alpha	110	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.E110K(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AATTCGAGGCGAGATCTATTA	0.512																																						uc010rzo.1		NaN																	2	Substitution - Missense(2)		large_intestine(1)|skin(1)	breast(6)|ovary(2)|skin(2)	10						c.(328-330)GAG>CAG		tectorin alpha precursor							104.0	99.0	100.0					11																	120980049		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120980049G>C	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.328G>C	11.37:g.120980049G>C	ENSP00000376543:p.Glu110Gln						p.E110Q	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	3	328	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	110			NIDO.			Missense_Mutation	SNP	ENST00000392793.1	37	c.328G>C	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203387	0.58234	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.36699	1.24;1.24	5.46	5.46	0.80206	Nidogen, extracellular domain (2);	0.053752	0.64402	D	0.000001	T	0.28499	0.0705	N	0.25144	0.715	0.44555	D	0.997517	B	0.31040	0.305	B	0.29524	0.103	T	0.03922	-1.0992	10	0.27785	T	0.31	.	19.3216	0.94243	0.0:0.0:1.0:0.0	.	110	O75443	TECTA_HUMAN	Q	110	ENSP00000376543:E110Q;ENSP00000264037:E110Q	ENSP00000264037:E110Q	E	+	1	0	TECTA	120485259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.835000	0.86780	2.573000	0.86826	0.655000	0.94253	GAG		0.512	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1		NM_005422		28	58	0	0	0	0.001786	0	28	58		
OR8B4	283162	broad.mit.edu	37	11	124294715	124294715	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:124294715G>A	ENST00000356130.3	-	1	74	c.53C>T	c.(52-54)tCa>tTa	p.S18L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGGCTGTTCTGATAATCCCAC	0.478																																						uc010sak.1		NaN																	0				skin(1)	1						c.(52-54)TCA>TTA		olfactory receptor, family 8, subfamily B,							50.0	47.0	48.0					11																	124294715		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294715G>A	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.53C>T	11.37:g.124294715G>A	ENSP00000348449:p.Ser18Leu						p.S18L	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	53	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	18			Extracellular (Potential).		B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.53C>T	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	g	12.27	1.888630	0.33348	.	.	ENSG00000198657	ENST00000356130	T	0.00433	7.43	4.62	4.62	0.57501	.	0.691254	0.12549	N	0.459280	T	0.00496	0.0016	L	0.48174	1.505	0.22880	N	0.998614	B	0.28552	0.215	B	0.32465	0.146	T	0.55490	-0.8133	10	0.87932	D	0	.	17.6029	0.88030	0.0:0.0:1.0:0.0	.	18	Q96RC9	OR8B4_HUMAN	L	18	ENSP00000348449:S18L	ENSP00000348449:S18L	S	-	2	0	OR8B4	123799925	0.114000	0.22134	0.333000	0.25482	0.423000	0.31445	2.772000	0.47678	2.564000	0.86499	0.655000	0.94253	TCA		0.478	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1		NM_001005196		17	36	0	0	0	0.00499	0	17	36		
SIAE	54414	broad.mit.edu	37	11	124524628	124524628	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:124524628G>A	ENST00000263593.3	-	4	639	c.467C>T	c.(466-468)tCt>tTt	p.S156F	SIAE_ENST00000545756.1_Missense_Mutation_p.S121F			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	156					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		GGGAGAGACAGAGAGGATGCG	0.488																																						uc001qan.2		NaN																	0					0						c.(466-468)TCT>TTT		sialate O-acetylesterase precursor							154.0	151.0	152.0					11																	124524628		2201	4299	6500	SO:0001583	missense	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124524628G>A	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.467C>T	11.37:g.124524628G>A	ENSP00000263593:p.Ser156Phe						p.S156F	NM_170601	NP_733746	Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	4	580	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	156					B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	ENST00000263593.3	37	c.467C>T	CCDS8449.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690953	0.48097	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	D;D	0.95272	-3.66;-3.66	5.69	5.69	0.88448	Esterase, SGNH hydrolase-type (1);	0.387835	0.27275	N	0.020102	D	0.92535	0.7629	L	0.41573	1.285	0.09310	N	1	B	0.26120	0.142	B	0.33121	0.158	D	0.85874	0.1418	10	0.51188	T	0.08	-3.7897	16.7231	0.85415	0.0:0.0:1.0:0.0	.	156	Q9HAT2	SIAE_HUMAN	F	156;121	ENSP00000263593:S156F;ENSP00000437877:S121F	ENSP00000263593:S156F	S	-	2	0	SIAE	124029838	0.994000	0.37717	0.031000	0.17742	0.435000	0.31806	4.437000	0.59955	2.679000	0.91253	0.643000	0.83706	TCT		0.488	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1		NM_170601		50	114	0	0	0	0.00361	0	50	114		
ROBO4	54538	broad.mit.edu	37	11	124766183	124766183	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:124766183G>A	ENST00000306534.3	-	4	1075	c.590C>T	c.(589-591)gCa>gTa	p.A197V	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.A52V	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	197	Ig-like C2-type 2.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACTCTTCTCTGCTCTTGCCAT	0.617																																						uc001qbg.2		NaN																	0				ovary(1)|skin(1)	2						c.(589-591)GCA>GTA		roundabout homolog 4, magic roundabout							87.0	84.0	85.0					11																	124766183		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124766183G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.590C>T	11.37:g.124766183G>A	ENSP00000304945:p.Ala197Val					ROBO4_uc010sas.1_Missense_Mutation_p.A52V|ROBO4_uc001qbh.2_Missense_Mutation_p.A87V|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	p.A197V	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	4	730	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	197			Ig-like C2-type 2.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.590C>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	8.873	0.949715	0.18431	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64618	-0.11;-0.11	5.57	4.66	0.58398	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.200673	0.25083	N	0.033268	T	0.34687	0.0906	N	0.04275	-0.24	0.36718	D	0.881046	B;B	0.12013	0.005;0.004	B;B	0.17098	0.01;0.017	T	0.34750	-0.9816	10	0.02654	T	1	.	12.0313	0.53399	0.081:0.0:0.919:0.0	.	87;197	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	V	197;87;52	ENSP00000304945:A197V;ENSP00000437129:A52V	ENSP00000304945:A197V	A	-	2	0	ROBO4	124271393	0.978000	0.34361	0.991000	0.47740	0.009000	0.06853	4.436000	0.59948	1.482000	0.48325	-0.143000	0.13931	GCA		0.617	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1		NM_019055		21	52	0	0	0	0.002299	0	21	52		
NTM	50863	broad.mit.edu	37	11	132082042	132082042	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:132082042G>A	ENST00000374786.1	+	3	1005		c.e3+1		NTM_ENST00000539799.1_Splice_Site|NTM_ENST00000427481.2_Splice_Site|NTM_ENST00000374791.3_Splice_Site|NTM_ENST00000425719.2_Splice_Site|NTM_ENST00000374784.1_Splice_Site|NTM_ENST00000474900.1_Splice_Site	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TCTCCCAAAGGTAAGAGAACA	0.453																																						uc001qgp.2		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.e3+1		neurotrimin isoform 1							150.0	150.0	150.0					11																	132082042		2201	4297	6498	SO:0001630	splice_region_variant	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132082042G>A	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.526+1G>A	11.37:g.132082042G>A						NTM_uc001qgm.2_Splice_Site_p.A176_splice|NTM_uc010sch.1_Splice_Site_p.A167_splice|NTM_uc010sci.1_Splice_Site_p.A176_splice|NTM_uc010scj.1_Splice_Site_p.A135_splice|NTM_uc001qgo.2_Splice_Site_p.A176_splice|NTM_uc001qgq.2_Splice_Site_p.A176_splice|NTM_uc001qgr.2_Splice_Site	p.A176_splice	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			3	1190	+								A0MTT2|Q6UXJ3|Q86VJ9	Splice_Site	SNP	ENST00000374786.1	37	c.526_splice	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417168	0.83449	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3473	0.98799	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NTM	131587252	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.900000	0.92551	2.884000	0.98904	0.655000	0.94253	.		0.453	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1		NM_016522	Intron	35	89	0	0	0	0.005524	0	35	89		
KCNA1	3736	broad.mit.edu	37	12	5021124	5021124	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:5021124G>A	ENST00000382545.3	+	2	1687	c.580G>A	c.(580-582)Gat>Aat	p.D194N	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	194					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CGAGCTGAAGGATGACAAGGA	0.572																																						uc001qnh.2		NaN																	0				ovary(1)|skin(1)	2						c.(580-582)GAT>AAT		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						96.0	83.0	87.0					12																	5021124		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021124G>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.580G>A	12.37:g.5021124G>A	ENSP00000371985:p.Asp194Asn						p.D194N	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	1685	+			194					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.580G>A	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893860	0.52121	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.62941	-0.01	4.86	4.86	0.63082	.	0.215354	0.47455	D	0.000233	T	0.59729	0.2215	L	0.53617	1.68	0.51767	D	0.999934	B	0.02656	0.0	B	0.01281	0.0	T	0.57653	-0.7774	10	0.48119	T	0.1	.	17.5143	0.87769	0.0:0.0:1.0:0.0	.	194	Q09470	KCNA1_HUMAN	N	194	ENSP00000371985:D194N	ENSP00000228858:D194N	D	+	1	0	KCNA1	4891385	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	7.686000	0.84128	2.676000	0.91093	0.655000	0.94253	GAT		0.572	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2		NM_000217		18	30	0	0	0	0.00499	0	18	30		
CHD4	1108	broad.mit.edu	37	12	6690875	6690875	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:6690875G>C	ENST00000357008.2	-	31	4784	c.4621C>G	c.(4621-4623)Cct>Gct	p.P1541A	SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.P1534A|CHD4_ENST00000544484.1_Missense_Mutation_p.P1566A|CHD4_ENST00000309577.6_Missense_Mutation_p.P1569A|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000540960.1_5'Flank	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1541					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GAGGGTGTAGGAGTTTTTGGG	0.547																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NaN																	0				central_nervous_system(2)	2						c.(4621-4623)CCT>GCT		chromodomain helicase DNA binding protein 4							189.0	178.0	182.0					12																	6690875		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6690875G>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4621C>G	12.37:g.6690875G>C	ENSP00000349508:p.Pro1541Ala					CHD4_uc001qpn.2_Missense_Mutation_p.P1534A|CHD4_uc001qpp.2_Missense_Mutation_p.P1566A|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	p.P1541A	NM_001273	NP_001264	Q14839	CHD4_HUMAN			31	4785	-			1541					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4621C>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394732	0.62066	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90676	-2.71;-2.61;-2.7;-2.62	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.95076	0.8405	M	0.72894	2.215	0.80722	D	1	D;P;D	0.71674	0.998;0.842;0.996	D;B;D	0.76071	0.978;0.266;0.987	D	0.94073	0.7337	10	0.45353	T	0.12	-6.0519	19.9813	0.97326	0.0:0.0:1.0:0.0	.	1569;1541;1534	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	A	1566;1534;1569;1541;1515	ENSP00000440392:P1566A;ENSP00000440542:P1534A;ENSP00000312419:P1569A;ENSP00000349508:P1541A	ENSP00000312419:P1569A	P	-	1	0	CHD4	6561136	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.835000	0.99442	2.726000	0.93360	0.655000	0.94253	CCT		0.547	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273		19	66	0	0	0	0.008871	0	19	66		
CHD4	1108	broad.mit.edu	37	12	6692427	6692427	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:6692427G>C	ENST00000357008.2	-	26	4160	c.3997C>G	c.(3997-3999)Ctg>Gtg	p.L1333V	SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.L1326V|CHD4_ENST00000544484.1_Missense_Mutation_p.L1330V|CHD4_ENST00000309577.6_Missense_Mutation_p.L1333V|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000540960.1_5'UTR	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1333					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CCTTTGCCCAGATTTCGGGCT	0.537																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NaN																	0				central_nervous_system(2)	2						c.(3997-3999)CTG>GTG		chromodomain helicase DNA binding protein 4							209.0	201.0	204.0					12																	6692427		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6692427G>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3997C>G	12.37:g.6692427G>C	ENSP00000349508:p.Leu1333Val					CHD4_uc001qpn.2_Missense_Mutation_p.L1326V|CHD4_uc001qpp.2_Missense_Mutation_p.L1330V|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	p.L1333V	NM_001273	NP_001264	Q14839	CHD4_HUMAN			26	4161	-			1333					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3997C>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670790	0.47781	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.92099	-2.89;-2.97;-2.9;-2.97	5.96	4.16	0.48862	Domain of unknown function DUF1087 (1);	0.000000	0.64402	D	0.000003	D	0.95348	0.8490	M	0.75085	2.285	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.91635	0.995;0.999;0.99	D	0.95163	0.8283	10	0.87932	D	0	-5.7741	12.8483	0.57842	0.1315:0.0:0.8685:0.0	.	1333;1333;1326	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	V	1330;1326;1333;1333;1307	ENSP00000440392:L1330V;ENSP00000440542:L1326V;ENSP00000312419:L1333V;ENSP00000349508:L1333V	ENSP00000312419:L1333V	L	-	1	2	CHD4	6562688	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.073000	0.50057	0.871000	0.35750	0.655000	0.94253	CTG		0.537	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273		89	171	0	0	0	0.00361	0	89	171		
KIAA1467	57613	broad.mit.edu	37	12	13219676	13219676	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:13219676G>A	ENST00000197268.8	+	6	1075	c.955G>A	c.(955-957)Gtt>Att	p.V319I		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	319						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGGTCCTCAGGTTTACATCAC	0.502																																						uc001rbi.2		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(955-957)GTT>ATT		hypothetical protein LOC57613							164.0	142.0	150.0					12																	13219676		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13219676G>A	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.955G>A	12.37:g.13219676G>A	ENSP00000197268:p.Val319Ile					KIAA1467_uc009zhx.1_RNA	p.V319I	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	6	978	+		Prostate(47;0.184)	319					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.955G>A	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494508	0.64186	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	T	0.22134	1.97	5.58	3.7	0.42460	.	0.127164	0.53938	D	0.000041	T	0.27731	0.0682	M	0.70595	2.14	0.33945	D	0.643688	P	0.48589	0.912	B	0.43274	0.414	T	0.47142	-0.9140	10	0.37606	T	0.19	-14.1192	14.6973	0.69132	0.0:0.2474:0.7526:0.0	.	319	A2RU67	K1467_HUMAN	I	319;95	ENSP00000437974:V95I	ENSP00000197268:V319I	V	+	1	0	KIAA1467	13110943	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.916000	0.56416	0.672000	0.31204	0.650000	0.86243	GTT		0.502	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1		NM_020853		12	42	0	0	0	0.001368	0	12	42		
GUCY2C	2984	broad.mit.edu	37	12	14840914	14840914	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:14840914C>T	ENST00000261170.3	-	2	437	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	101					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TCGAGGCCTTCACAGGTGCTA	0.488																																						uc001rcd.2		NaN																	0				ovary(4)|skin(2)	6						c.(301-303)GAA>AAA		guanylate cyclase 2C precursor							98.0	93.0	95.0					12																	14840914		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14840914C>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.301G>A	12.37:g.14840914C>T	ENSP00000261170:p.Glu101Lys					GUCY2C_uc009zhz.2_Missense_Mutation_p.E101K	p.E101K	NM_004963	NP_004954	P25092	GUC2C_HUMAN			2	438	-			101			Extracellular (Potential).		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.301G>A	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879379	0.91740	.	.	ENSG00000070019	ENST00000261170	D	0.82984	-1.67	5.48	5.48	0.80851	Extracellular ligand-binding receptor (1);	0.049735	0.85682	D	0.000000	D	0.89712	0.6794	M	0.71036	2.16	0.58432	D	0.999992	D	0.76494	0.999	D	0.73708	0.981	D	0.88585	0.3139	10	0.40728	T	0.16	.	15.1925	0.73057	0.0:1.0:0.0:0.0	.	101	P25092	GUC2C_HUMAN	K	101	ENSP00000261170:E101K	ENSP00000261170:E101K	E	-	1	0	GUCY2C	14732181	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.586000	0.60984	2.738000	0.93877	0.591000	0.81541	GAA		0.488	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1				25	76	0	0	0	0.00632	0	25	76		
METTL20	254013	broad.mit.edu	37	12	31819050	31819050	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:31819050G>A	ENST00000357721.3	+	3	559	c.344G>A	c.(343-345)aGa>aAa	p.R115K	METTL20_ENST00000412352.2_Missense_Mutation_p.R115K|METTL20_ENST00000538463.1_Missense_Mutation_p.R115K|METTL20_ENST00000395763.3_Missense_Mutation_p.R115K|METTL20_ENST00000538391.1_Intron	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN	methyltransferase like 20	115						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			lung(2)|stomach(1)	3						GATGTTGTCAGAGGAAAATCT	0.418																																						uc009zjr.2		NaN																	0					0						c.(343-345)AGA>AAA		hypothetical protein LOC254013							131.0	123.0	125.0					12																	31819050		2203	4300	6503	SO:0001583	missense	254013					cytoplasm	protein methyltransferase activity	g.chr12:31819050G>A	BC039535	CCDS8724.1	12p11.21	2011-03-03	2011-03-03	2011-03-03	ENSG00000139160	ENSG00000139160			28739	protein-coding gene	gene with protein product		615256	"""chromosome 12 open reading frame 72"""	C12orf72			Standard	NM_173802		Approved	DKFZp451L235, MGC50559	uc001rkm.3	Q8IXQ9		ENST00000357721.3:c.344G>A	12.37:g.31819050G>A	ENSP00000350353:p.Arg115Lys					C12orf72_uc001rkl.2_Missense_Mutation_p.R115K|C12orf72_uc001rkm.2_Missense_Mutation_p.R115K	p.R115K	NM_001135864	NP_001129336	Q8IXQ9	MET20_HUMAN			3	553	+			115					D3DUW3	Missense_Mutation	SNP	ENST00000357721.3	37	c.344G>A	CCDS8724.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629857	0.28978	.	.	ENSG00000139160	ENST00000412352;ENST00000395763;ENST00000538463;ENST00000357721	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.41	4.52	0.55395	.	0.386850	0.29660	N	0.011528	T	0.49236	0.1545	N	0.05078	-0.115	0.80722	D	1	B	0.22746	0.074	B	0.23150	0.044	T	0.44620	-0.9316	10	0.07325	T	0.83	-20.8621	10.8063	0.46520	0.1625:0.0:0.8375:0.0	.	115	Q8IXQ9	MET20_HUMAN	K	115	ENSP00000396123:R115K;ENSP00000379112:R115K;ENSP00000441421:R115K;ENSP00000350353:R115K	ENSP00000350353:R115K	R	+	2	0	METTL20	31710317	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.486000	0.35530	1.515000	0.48885	0.655000	0.94253	AGA		0.418	METTL20-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402196.1		NM_173802		14	31	0	0	0	0.001855	0	14	31		
LRRK2	120892	broad.mit.edu	37	12	40716180	40716180	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:40716180C>T	ENST00000298910.7	+	37	5435	c.5377C>T	c.(5377-5379)Cct>Tct	p.P1793S		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1793					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGAATGGTTTCCTGGGTTGCT	0.383																																						uc001rmg.3		NaN																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(5377-5379)CCT>TCT		leucine-rich repeat kinase 2							246.0	234.0	238.0					12																	40716180		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40716180C>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5377C>T	12.37:g.40716180C>T	ENSP00000298910:p.Pro1793Ser					LRRK2_uc009zjw.2_Missense_Mutation_p.P631S|LRRK2_uc001rmi.2_Missense_Mutation_p.P626S	p.P1793S	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			37	5498	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1793					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.5377C>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916155	0.92178	.	.	ENSG00000188906	ENST00000298910	T	0.77489	-1.1	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88838	0.3310	10	0.87932	D	0	.	19.5666	0.95395	0.0:1.0:0.0:0.0	.	1793;1793	Q17RV3;Q5S007	.;LRRK2_HUMAN	S	1793	ENSP00000298910:P1793S	ENSP00000298910:P1793S	P	+	1	0	LRRK2	39002447	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.505000	0.66981	2.602000	0.87976	0.650000	0.86243	CCT		0.383	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1		XM_058513		40	109	0	0	0	0.002222	0	40	109		
ADAMTS20	80070	broad.mit.edu	37	12	43925874	43925874	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:43925874G>A	ENST00000389420.3	-	3	577	c.578C>T	c.(577-579)tCt>tTt	p.S193F	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S193F	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	193					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTGCAGAAAAGAGTTATTTAA	0.328																																						uc010skx.1		NaN																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(577-579)TCT>TTT		a disintegrin-like and metalloprotease with							118.0	112.0	114.0					12																	43925874		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43925874G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.578C>T	12.37:g.43925874G>A	ENSP00000374071:p.Ser193Phe						p.S193F	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	3	578	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	193					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.578C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543096	0.27563	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.62364	0.2;0.03	4.82	0.047	0.14278	.	1.652820	0.03797	N	0.263889	T	0.40932	0.1137	N	0.19112	0.55	0.09310	N	1	P	0.40050	0.7	B	0.31245	0.126	T	0.29212	-1.0019	10	0.33940	T	0.23	.	4.7337	0.12977	0.1003:0.0975:0.553:0.2492	.	193	P59510	ATS20_HUMAN	F	193	ENSP00000374071:S193F;ENSP00000448341:S193F	ENSP00000374068:S193F	S	-	2	0	ADAMTS20	42212141	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	0.215000	0.17562	-0.072000	0.12864	0.637000	0.83480	TCT		0.328	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1		NM_025003		14	23	0	0	0	0.001855	0	14	23		
KRT8	3856	broad.mit.edu	37	12	53298670	53298670	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:53298670G>A	ENST00000552551.1	-	2	528	c.96C>T	c.(94-96)cgC>cgT	p.R32R	KRT8_ENST00000546897.1_Silent_p.R32R|KRT8_ENST00000293308.6_Silent_p.R32R|KRT8_ENST00000552150.1_Silent_p.R60R			P05787	K2C8_HUMAN	keratin 8	32	Head.|Ser-rich.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	AGGAGCTGATGCGGGAACCGG	0.667																																						uc001sbd.2		NaN																	0				ovary(1)|skin(1)	2						c.(94-96)CGC>CGT		keratin 8	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						13.0	15.0	14.0					12																	53298670		2136	4177	6313	SO:0001819	synonymous_variant	3856				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	g.chr12:53298670G>A	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.96C>T	12.37:g.53298670G>A						KRT8_uc009zmj.2_Silent_p.R32R|KRT8_uc009zmk.1_Silent_p.R60R|KRT8_uc009zml.1_Silent_p.R32R|KRT8_uc009zmm.1_Silent_p.R32R	p.R32R	NM_002273	NP_002264	P05787	K2C8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	1	199	-			32			Head.|Ser-rich.		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Silent	SNP	ENST00000552551.1	37	c.96C>T	CCDS8841.1																																																																																				0.667	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1		NM_002273		11	13	0	0	0	0.008291	0	11	13		
TMEM194A	23306	broad.mit.edu	37	12	57453736	57453736	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:57453736C>T	ENST00000300128.4	-	9	1284	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	TMEM194A_ENST00000379391.3_Missense_Mutation_p.E348K	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	421						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GATGCTTCCTCATAGATTTCA	0.463																																						uc001smy.2		NaN																	0					0						c.(1261-1263)GAG>AAG		transmembrane protein 194A isoform a							130.0	105.0	113.0					12																	57453736		2203	4300	6503	SO:0001583	missense	23306					integral to membrane		g.chr12:57453736C>T	AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"""transmembrane protein 194"""	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.1261G>A	12.37:g.57453736C>T	ENSP00000300128:p.Glu421Lys					TMEM194A_uc001smx.2_Missense_Mutation_p.E348K|TMEM194A_uc010sra.1_Missense_Mutation_p.E162K	p.E421K	NM_001130963	NP_001124435	O14524	T194A_HUMAN			9	1307	-			421					Q17R72|Q68DH0|Q6IQ25	Missense_Mutation	SNP	ENST00000300128.4	37	c.1261G>A	CCDS44927.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530311	0.85706	.	.	ENSG00000166881	ENST00000379391;ENST00000300128	T;T	0.48836	0.83;0.8	4.41	4.41	0.53225	.	0.160030	0.56097	D	0.000036	T	0.44644	0.1303	L	0.47716	1.5	0.49687	D	0.999815	P;P	0.40731	0.608;0.728	B;B	0.41764	0.202;0.366	T	0.40365	-0.9567	10	0.35671	T	0.21	-11.9259	14.4998	0.67714	0.0:1.0:0.0:0.0	.	421;348	O14524;O14524-2	T194A_HUMAN;.	K	348;421	ENSP00000368701:E348K;ENSP00000300128:E421K	ENSP00000300128:E421K	E	-	1	0	TMEM194A	55740003	1.000000	0.71417	0.244000	0.24202	0.959000	0.62525	4.247000	0.58750	2.010000	0.58986	0.561000	0.74099	GAG		0.463	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1		NM_015257		13	33	0	0	0	0.001368	0	13	33		
TMEM194A	23306	broad.mit.edu	37	12	57453784	57453784	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:57453784C>T	ENST00000300128.4	-	9	1236	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	TMEM194A_ENST00000379391.3_Missense_Mutation_p.E332K	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	405						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TACTCCTGCTCATGGACAGAA	0.448																																						uc001smy.2		NaN																	0					0						c.(1213-1215)GAG>AAG		transmembrane protein 194A isoform a							100.0	90.0	93.0					12																	57453784		2203	4300	6503	SO:0001583	missense	23306					integral to membrane		g.chr12:57453784C>T	AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"""transmembrane protein 194"""	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.1213G>A	12.37:g.57453784C>T	ENSP00000300128:p.Glu405Lys					TMEM194A_uc001smx.2_Missense_Mutation_p.E332K|TMEM194A_uc010sra.1_Missense_Mutation_p.E146K	p.E405K	NM_001130963	NP_001124435	O14524	T194A_HUMAN			9	1259	-			405					Q17R72|Q68DH0|Q6IQ25	Missense_Mutation	SNP	ENST00000300128.4	37	c.1213G>A	CCDS44927.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014447	0.93404	.	.	ENSG00000166881	ENST00000379391;ENST00000300128	T;T	0.54675	0.65;0.56	5.61	4.71	0.59529	.	0.288557	0.38663	N	0.001607	T	0.65333	0.2681	M	0.66939	2.045	0.41213	D	0.986455	D;D	0.60575	0.983;0.988	P;P	0.57324	0.818;0.794	T	0.69793	-0.5049	10	0.66056	D	0.02	-13.1948	13.6069	0.62052	0.1566:0.8434:0.0:0.0	.	405;332	O14524;O14524-2	T194A_HUMAN;.	K	332;405	ENSP00000368701:E332K;ENSP00000300128:E405K	ENSP00000300128:E405K	E	-	1	0	TMEM194A	55740051	0.971000	0.33674	1.000000	0.80357	0.998000	0.95712	4.031000	0.57267	1.334000	0.45468	0.561000	0.74099	GAG		0.448	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1		NM_015257		15	46	0	0	0	0.003163	0	15	46		
GLI1	2735	broad.mit.edu	37	12	57865455	57865455	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:57865455G>C	ENST00000228682.2	+	12	3023	c.2932G>C	c.(2932-2934)Gca>Cca	p.A978P	GLI1_ENST00000543426.1_Missense_Mutation_p.A850P|GLI1_ENST00000546141.1_Missense_Mutation_p.A937P	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	978					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGTAGTGGGGGCAAATAGGGC	0.537																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NaN																	0				skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(2932-2934)GCA>CCA		GLI family zinc finger 1 isoform 1							80.0	83.0	82.0					12																	57865455		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57865455G>C		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2932G>C	12.37:g.57865455G>C	ENSP00000228682:p.Ala978Pro					GLI1_uc009zpq.2_Missense_Mutation_p.A850P	p.A978P	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	3010	+			978					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.2932G>C	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	8.244	0.807394	0.16467	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.12879	2.76;2.64;2.72;2.72	4.53	1.71	0.24356	.	0.547369	0.15394	N	0.264673	T	0.07503	0.0189	N	0.22421	0.69	0.09310	N	1	B	0.33448	0.412	B	0.32289	0.143	T	0.38866	-0.9641	10	0.13108	T	0.6	.	7.5377	0.27721	0.2769:0.0:0.7231:0.0	.	978	P08151	GLI1_HUMAN	P	850;978;937;937;446	ENSP00000437607:A850P;ENSP00000228682:A978P;ENSP00000441006:A937P;ENSP00000434408:A937P	ENSP00000228682:A978P	A	+	1	0	GLI1	56151722	0.000000	0.05858	0.058000	0.19502	0.843000	0.47879	-0.068000	0.11561	0.261000	0.21753	0.555000	0.69702	GCA		0.537	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1		NM_005269		34	62	0	0	0	0.003271	0	34	62		
ARHGAP9	64333	broad.mit.edu	37	12	57871349	57871349	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:57871349C>G	ENST00000356411.2	-	4	787	c.649G>C	c.(649-651)Gat>Cat	p.D217H	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.D217H|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.D296H|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.D288H|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.D217H|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.D33H			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	217	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCCCAGGCATCCAGCCTCTGC	0.642																																						uc001sod.2		NaN																	0				lung(1)	1						c.(862-864)GAT>CAT		Rho GTPase activating protein 9 isoform 1							37.0	43.0	41.0					12																	57871349		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57871349C>G	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.649G>C	12.37:g.57871349C>G	ENSP00000348782:p.Asp217His					ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.D33H|ARHGAP9_uc001soa.2_5'UTR|ARHGAP9_uc001sob.2_Missense_Mutation_p.D217H|ARHGAP9_uc001soc.2_Missense_Mutation_p.D217H|ARHGAP9_uc001soe.1_Missense_Mutation_p.D296H|ARHGAP9_uc010sro.1_Missense_Mutation_p.D217H	p.D288H	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		7	1055	-			217			WW.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.862G>C		.	.	.	.	.	.	.	.	.	.	C	18.86	3.712745	0.68730	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139;ENST00000552604;ENST00000551452;ENST00000552066;ENST00000549602;ENST00000552249	T;T;T;T;T;T;T;T;T;D;T	0.83163	3.01;3.02;1.64;2.97;2.93;0.95;0.95;0.95;0.95;-1.69;-0.35	3.66	2.75	0.32379	.	0.274640	0.32093	N	0.006588	D	0.86310	0.5902	L	0.53249	1.67	0.33654	D	0.608803	D;D;D;P;D;P	0.89917	0.999;0.969;1.0;0.95;1.0;0.917	P;P;D;P;D;P	0.85130	0.908;0.741;0.997;0.789;0.96;0.541	D	0.87375	0.2353	10	0.51188	T	0.08	.	7.5684	0.27894	0.0:0.8815:0.0:0.1185	.	217;296;217;217;217;33	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;.;RHG09_HUMAN;.;.;.	H	217;217;217;288;266;33;33;33;70;33;33;135	ENSP00000377380:D217H;ENSP00000348782:D217H;ENSP00000394307:D217H;ENSP00000377386:D288H;ENSP00000397950:D33H;ENSP00000449829:D33H;ENSP00000450256:D33H;ENSP00000446932:D70H;ENSP00000448424:D33H;ENSP00000450223:D33H;ENSP00000448358:D135H	ENSP00000344852:D266H	D	-	1	0	ARHGAP9	56157616	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	3.229000	0.51278	1.091000	0.41335	0.655000	0.94253	GAT		0.642	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_032496		20	52	0	0	0	0.001882	0	20	52		
LRRIQ1	84125	broad.mit.edu	37	12	85438530	85438530	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:85438530G>A	ENST00000393217.2	+	4	340	c.279G>A	c.(277-279)atG>atA	p.M93I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	93										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATAATCATATGCATTTAAGAA	0.259																																						uc001tac.2		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(277-279)ATG>ATA		leucine-rich repeats and IQ motif containing 1							58.0	63.0	61.0					12																	85438530		2193	4252	6445	SO:0001583	missense	84125							g.chr12:85438530G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.279G>A	12.37:g.85438530G>A	ENSP00000376910:p.Met93Ile					LRRIQ1_uc001tab.1_Missense_Mutation_p.M93I|LRRIQ1_uc001taa.1_Missense_Mutation_p.M93I|LRRIQ1_uc001tad.2_Missense_Mutation_p.M1I	p.M93I	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	4	390	+			93					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.279G>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	2.286	-0.363584	0.05103	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393212;ENST00000393217	T;T	0.52057	1.48;0.68	4.79	0.861	0.19048	.	0.753598	0.11859	N	0.522580	T	0.34483	0.0899	L	0.50333	1.59	0.09310	N	1	B;B;B	0.29037	0.034;0.231;0.028	B;B;B	0.22386	0.026;0.039;0.014	T	0.26360	-1.0105	10	0.46703	T	0.11	.	3.1471	0.06475	0.2994:0.0:0.5116:0.189	.	93;93;93	Q96JM4-2;Q96JM4;C9JI57	.;LRIQ1_HUMAN;.	I	93	ENSP00000376906:M93I;ENSP00000376910:M93I	ENSP00000256007:M93I	M	+	3	0	LRRIQ1	83962661	0.411000	0.25384	0.358000	0.25811	0.128000	0.20619	-0.034000	0.12225	0.302000	0.22762	0.460000	0.39030	ATG		0.259	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2		NM_032165		9	30	0	0	0	0.008291	0	9	30		
UBE3B	89910	broad.mit.edu	37	12	109927779	109927779	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:109927779C>G	ENST00000342494.3	+	8	1195	c.600C>G	c.(598-600)ctC>ctG	p.L200L	UBE3B_ENST00000536398.1_Silent_p.L200L|UBE3B_ENST00000340074.5_Silent_p.L200L|UBE3B_ENST00000280774.5_Silent_p.L200L|UBE3B_ENST00000537063.1_Silent_p.L200L|UBE3B_ENST00000540230.1_Silent_p.L200L|UBE3B_ENST00000434735.2_Silent_p.L200L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	200					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGGGACATCTCAACCAGCATG	0.428																																						uc001top.2		NaN																	0				ovary(2)|lung(2)	4						c.(598-600)CTC>CTG		ubiquitin protein ligase E3B							209.0	182.0	191.0					12																	109927779		2203	4300	6503	SO:0001819	synonymous_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109927779C>G	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.600C>G	12.37:g.109927779C>G						UBE3B_uc001toq.2_Silent_p.L200L|UBE3B_uc001tol.1_Silent_p.L200L|UBE3B_uc001tom.2_Silent_p.L200L|UBE3B_uc001ton.2_Silent_p.L200L|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Silent_p.L200L|UBE3B_uc001tor.2_Silent_p.L200L	p.L200L	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			8	1203	+			200					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	37	c.600C>G	CCDS9129.1																																																																																				0.428	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1		NM_183415		27	79	0	0	0	0.001786	0	27	79		
UBE3B	89910	broad.mit.edu	37	12	109928922	109928922	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:109928922C>G	ENST00000342494.3	+	9	1298	c.703C>G	c.(703-705)Cta>Gta	p.L235V	UBE3B_ENST00000280774.5_Missense_Mutation_p.L235V|UBE3B_ENST00000537063.1_3'UTR|UBE3B_ENST00000540230.1_3'UTR|UBE3B_ENST00000434735.2_Missense_Mutation_p.L235V	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	235					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						AGCTTTTTCTCTAGCGTTACG	0.428																																						uc001top.2		NaN																	0				ovary(2)|lung(2)	4						c.(703-705)CTA>GTA		ubiquitin protein ligase E3B							116.0	103.0	107.0					12																	109928922		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109928922C>G	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.703C>G	12.37:g.109928922C>G	ENSP00000340596:p.Leu235Val					UBE3B_uc001toq.2_Missense_Mutation_p.L235V|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.L235V	p.L235V	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			9	1306	+			235					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.703C>G	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113869	0.56398	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.60171	0.63;0.21;0.85;0.63	5.84	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	M	0.66297	2.02	0.80722	D	1	P	0.46987	0.888	B	0.40901	0.343	T	0.61525	-0.7045	10	0.87932	D	0	-13.6925	10.3277	0.43803	0.0:0.851:0.0:0.149	.	235	Q7Z3V4	UBE3B_HUMAN	V	235	ENSP00000391529:L235V;ENSP00000280774:L235V;ENSP00000443131:L235V;ENSP00000340596:L235V	ENSP00000280774:L235V	L	+	1	2	UBE3B	108413305	0.987000	0.35691	0.799000	0.32177	0.546000	0.35178	2.617000	0.46385	1.482000	0.48325	0.655000	0.94253	CTA		0.428	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1		NM_183415		19	35	0	0	0	0.004656	0	19	35		
UBE3B	89910	broad.mit.edu	37	12	109937445	109937445	+	Silent	SNP	C	C	G	rs150323950	byFrequency	TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:109937445C>G	ENST00000342494.3	+	12	1543	c.948C>G	c.(946-948)ctC>ctG	p.L316L	UBE3B_ENST00000280774.5_Silent_p.L316L|UBE3B_ENST00000434735.2_Silent_p.L316L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	316					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TAGGCAACCTCCTACACTTGG	0.582																																						uc001top.2		NaN																	0				ovary(2)|lung(2)	4						c.(946-948)CTC>CTG		ubiquitin protein ligase E3B							101.0	82.0	88.0					12																	109937445		2203	4300	6503	SO:0001819	synonymous_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109937445C>G	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.948C>G	12.37:g.109937445C>G						UBE3B_uc001toq.2_Silent_p.L316L|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Silent_p.L316L	p.L316L	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			12	1551	+			316					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	37	c.948C>G	CCDS9129.1																																																																																				0.582	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1		NM_183415		6	12	0	0	0	0.001168	0	6	12		
UBE3B	89910	broad.mit.edu	37	12	109939251	109939251	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:109939251C>A	ENST00000342494.3	+	13	1789	c.1194C>A	c.(1192-1194)ttC>ttA	p.F398L	UBE3B_ENST00000280774.5_Missense_Mutation_p.F398L|UBE3B_ENST00000434735.2_Missense_Mutation_p.F398L|UBE3B_ENST00000535900.1_3'UTR	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	398					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GGATCTTCTTCTGTGACATCC	0.562																																						uc001top.2		NaN																	0				ovary(2)|lung(2)	4						c.(1192-1194)TTC>TTA		ubiquitin protein ligase E3B							133.0	122.0	126.0					12																	109939251		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109939251C>A	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1194C>A	12.37:g.109939251C>A	ENSP00000340596:p.Phe398Leu					UBE3B_uc001toq.2_Missense_Mutation_p.F398L|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.F398L	p.F398L	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			13	1797	+			398					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.1194C>A	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108117	0.37242	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.50001	1.14;0.76;1.39;1.14	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	L	0.47078	1.49	0.80722	D	1	B	0.24317	0.101	B	0.22152	0.038	T	0.14952	-1.0454	10	0.02654	T	1	-5.8458	11.5362	0.50639	0.0:0.9174:0.0:0.0826	.	398	Q7Z3V4	UBE3B_HUMAN	L	398	ENSP00000391529:F398L;ENSP00000280774:F398L;ENSP00000443131:F398L;ENSP00000340596:F398L	ENSP00000280774:F398L	F	+	3	2	UBE3B	108423634	1.000000	0.71417	0.985000	0.45067	0.957000	0.61999	3.851000	0.55926	2.605000	0.88082	0.655000	0.94253	TTC		0.562	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1		NM_183415		37	88	1	0	2.91434e-09	0.004878	5.31395e-09	37	88		
UBE3B	89910	broad.mit.edu	37	12	109961811	109961811	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:109961811C>G	ENST00000342494.3	+	22	2988	c.2393C>G	c.(2392-2394)tCc>tGc	p.S798C	UBE3B_ENST00000434735.2_Missense_Mutation_p.S798C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	798	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCATTTGCATCCTTCTTCCTG	0.532																																						uc001top.2		NaN																	0				ovary(2)|lung(2)	4						c.(2392-2394)TCC>TGC		ubiquitin protein ligase E3B							222.0	174.0	190.0					12																	109961811		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109961811C>G	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2393C>G	12.37:g.109961811C>G	ENSP00000340596:p.Ser798Cys					UBE3B_uc001toq.2_Missense_Mutation_p.S798C|UBE3B_uc001tos.2_Missense_Mutation_p.S225C|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.S798C	p.S798C	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			22	2996	+			798			HECT.		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.2393C>G	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769476	0.90020	.	.	ENSG00000151148	ENST00000434735;ENST00000539599;ENST00000342494;ENST00000539584;ENST00000538070	T;T;T	0.58506	0.33;0.33;0.33	5.05	5.05	0.67936	HECT (4);	0.000000	0.85682	D	0.000000	T	0.79545	0.4464	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.82916	-0.0220	10	0.66056	D	0.02	-14.3444	17.5577	0.87897	0.0:1.0:0.0:0.0	.	798	Q7Z3V4	UBE3B_HUMAN	C	798;798;798;225;93	ENSP00000391529:S798C;ENSP00000443131:S798C;ENSP00000340596:S798C	ENSP00000340596:S798C	S	+	2	0	UBE3B	108446194	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.273000	0.78527	2.635000	0.89317	0.561000	0.74099	TCC		0.532	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1		NM_183415		28	101	0	0	0	0.008361	0	28	101		
DYNLL1	8655	broad.mit.edu	37	12	120935923	120935923	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:120935923G>C	ENST00000392509.2	+	3	441	c.180G>C	c.(178-180)agG>agC	p.R60S	DYNLL1_ENST00000552316.1_3'UTR|DYNLL1-AS1_ENST00000500741.2_RNA|DYNLL1_ENST00000549989.1_Missense_Mutation_p.R60S|DYNLL1_ENST00000548342.1_Missense_Mutation_p.R60S|DYNLL1_ENST00000242577.6_Missense_Mutation_p.R60S|DYNLL1_ENST00000552870.1_Splice_Site_p.E45Q|DYNLL1_ENST00000392508.2_Missense_Mutation_p.R60S	NM_001037494.1	NP_001032583.1	P63167	DYL1_HUMAN	dynein, light chain, LC8-type 1	60					actin cytoskeleton organization (GO:0030036)|anatomical structure morphogenesis (GO:0009653)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic process (GO:0006915)|female gamete generation (GO:0007292)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	motor activity (GO:0003774)|nitric-oxide synthase regulator activity (GO:0030235)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCGTGGGGAGGAACTTCGGTA	0.418																																						uc001tyj.2		NaN																	0					0						c.(178-180)AGG>AGC		dynein light chain 1							98.0	86.0	90.0					12																	120935923		2203	4300	6503	SO:0001583	missense	8655				actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding	g.chr12:120935923G>C	U32944	CCDS9200.1	12q24.23	2013-05-30	2005-11-25	2005-11-25	ENSG00000088986	ENSG00000088986		"""Cytoplasmic dyneins"""	15476	protein-coding gene	gene with protein product		601562	"""dynein, cytoplasmic, light polypeptide 1"""	DNCL1		8628263, 8864115, 16260502	Standard	NM_001037494		Approved	hdlc1, DLC1, PIN, LC8, DLC8	uc001tym.3	P63167	OTTHUMG00000169368	ENST00000392509.2:c.180G>C	12.37:g.120935923G>C	ENSP00000376297:p.Arg60Ser					uc001tyk.1_5'Flank|DYNLL1_uc001tyl.2_Missense_Mutation_p.R60S|DYNLL1_uc001tym.2_Missense_Mutation_p.R60S	p.R60S	NM_001037494	NP_001032583	P63167	DYL1_HUMAN			3	434	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		60					Q15701	Missense_Mutation	SNP	ENST00000392509.2	37	c.180G>C	CCDS9200.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.25|16.25	3.070530|3.070530	0.55539|0.55539	.|.	.|.	ENSG00000088986|ENSG00000088986	ENST00000552870|ENST00000392509;ENST00000548342;ENST00000242577;ENST00000392508;ENST00000549989	.|.	.|.	.|.	5.72|5.72	1.56|1.56	0.23342|0.23342	.|Dynein light chain, type 1/2, conserved site (1);	.|0.041945	.|0.85682	.|D	.|0.000000	T|T	0.57184|0.57184	0.2036|0.2036	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999987|0.999987	.|B	.|0.18166	.|0.026	.|B	.|0.33121	.|0.158	T|T	0.52704|0.52704	-0.8540|-0.8540	5|8	0.87932|0.56958	D|D	0|0.05	.|.	9.7744|9.7744	0.40609|0.40609	0.3627:0.0:0.6373:0.0|0.3627:0.0:0.6373:0.0	.|.	.|60	.|P63167	.|DYL1_HUMAN	Q|S	45|60	.|.	ENSP00000449088:E45Q|ENSP00000242577:R60S	E|R	+|+	1|3	0|2	DYNLL1|DYNLL1	119420306|119420306	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	2.241000|2.241000	0.43097|0.43097	0.013000|0.013000	0.14918|0.14918	0.650000|0.650000	0.86243|0.86243	GAA|AGG		0.418	DYNLL1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403709.1		NM_003746		8	29	0	0	0	0.006214	0	8	29		
ZNF664	144348	broad.mit.edu	37	12	124496822	124496822	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:124496822C>T	ENST00000539644.1	+	6	1961	c.131C>T	c.(130-132)tCa>tTa	p.S44L	ZNF664_ENST00000538932.2_Missense_Mutation_p.S44L|ZNF664_ENST00000337815.4_Missense_Mutation_p.S44L|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000392404.3_Missense_Mutation_p.S44L			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	44					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)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TTTCATATATCAGAACTTCAT	0.353																																						uc001ufz.2		NaN																	0					0						c.(130-132)TCA>TTA		zinc finger protein 664							87.0	97.0	93.0					12																	124496822		2203	4300	6503	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124496822C>T		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.131C>T	12.37:g.124496822C>T	ENSP00000441405:p.Ser44Leu					ZNF664_uc001uga.2_Missense_Mutation_p.S44L|ZNF664_uc001ugb.2_Missense_Mutation_p.S44L	p.S44L	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	1961	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		44			C2H2-type 2.		B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.131C>T	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597605	0.87055	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	4.4	4.4	0.53042	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33670	N	0.004680	T	0.24314	0.0589	M	0.81802	2.56	0.44268	D	0.99712	B	0.30439	0.279	B	0.29176	0.099	T	0.03993	-1.0986	9	.	.	.	-8.8353	15.306	0.73992	0.0:1.0:0.0:0.0	.	44	Q8N3J9	ZN664_HUMAN	L	44	ENSP00000441405:S44L;ENSP00000376205:S44L;ENSP00000440645:S44L;ENSP00000337320:S44L	.	S	+	2	0	ZNF664	123062775	0.915000	0.31059	1.000000	0.80357	0.975000	0.68041	2.839000	0.48207	2.728000	0.93425	0.655000	0.94253	TCA		0.353	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1		NM_152437		22	86	0	0	0	0.00278	0	22	86		
TMEM132B	114795	broad.mit.edu	37	12	125834167	125834167	+	Silent	SNP	C	C	T	rs190884960		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:125834167C>T	ENST00000299308.3	+	2	230	c.222C>T	c.(220-222)ttC>ttT	p.F74F	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	74						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCCATTCTTCATCTACCGAG	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		16739	0.001		0.0	False		,,,				2504	0.0					uc001uhe.1		NaN																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(220-222)TTC>TTT		transmembrane protein 132B							104.0	106.0	106.0					12																	125834167		1888	4129	6017	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:125834167C>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.222C>T	12.37:g.125834167C>T							p.F74F	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	230	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		74			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.222C>T	CCDS41859.1																																																																																				0.512	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1		NM_052907		48	97	0	0	0	0.00361	0	48	97		
IFT88	8100	broad.mit.edu	37	13	21175890	21175890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:21175890C>T	ENST00000319980.6	+	14	1213	c.886C>T	c.(886-888)Cag>Tag	p.Q296*	IFT88_ENST00000537103.1_Nonsense_Mutation_p.Q268*|IFT88_ENST00000351808.5_Nonsense_Mutation_p.Q287*|IFT88_ENST00000382778.4_Nonsense_Mutation_p.Q296*	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	296					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TCAGGCTGGTCAGTATTCAGA	0.338																																						uc001unh.2		NaN																	0				ovary(1)	1						c.(886-888)CAG>TAG		intraflagellar transport 88 homolog isoform 1							87.0	85.0	86.0					13																	21175890		2203	4300	6503	SO:0001587	stop_gained	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21175890C>T	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.886C>T	13.37:g.21175890C>T	ENSP00000323580:p.Gln296*					IFT88_uc001uni.2_Nonsense_Mutation_p.Q287*|IFT88_uc001unj.2_Nonsense_Mutation_p.Q286*|IFT88_uc010tcq.1_Nonsense_Mutation_p.Q267*|IFT88_uc001unk.2_Intron	p.Q296*	NM_175605	NP_783195	Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	14	1282	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	296			TPR 3.		A2A491|B4DUS2|Q5SZJ6|Q8N719	Nonsense_Mutation	SNP	ENST00000319980.6	37	c.886C>T	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	C	39	7.695549	0.98438	.	.	ENSG00000032742	ENST00000382778;ENST00000351808;ENST00000319980;ENST00000537103	.	.	.	5.51	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-1.8722	9.7998	0.40757	0.0:0.7864:0.1398:0.0737	.	.	.	.	X	296;287;296;268	.	ENSP00000323580:Q296X	Q	+	1	0	IFT88	20073890	1.000000	0.71417	0.991000	0.47740	0.800000	0.45204	5.904000	0.69886	1.325000	0.45301	0.467000	0.42956	CAG		0.338	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3		NM_006531		13	52	0	0	0	0.001855	0	13	52		
MTUS2	23281	broad.mit.edu	37	13	29599309	29599309	+	Silent	SNP	T	T	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:29599309T>C	ENST00000431530.3	+	1	562	c.504T>C	c.(502-504)gtT>gtC	p.V168V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	158						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCCGGCATGTTCCCAAGGATA	0.507																																						uc001usl.3		NaN																	0					0						c.(502-504)GTT>GTC		hypothetical protein LOC23281 isoform a							93.0	94.0	94.0					13																	29599309		2009	4191	6200	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599309T>C	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.504T>C	13.37:g.29599309T>C							p.V168V	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	562	+			158					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.504T>C	CCDS45022.1																																																																																				0.507	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3		XM_166270		26	59	0	0	0	0.005443	0	26	59		
NHLRC3	387921	broad.mit.edu	37	13	39621205	39621205	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:39621205G>C	ENST00000379600.3	+	6	1029	c.707G>C	c.(706-708)aGa>aCa	p.R236T	NHLRC3_ENST00000379599.2_Missense_Mutation_p.R169T|NHLRC3_ENST00000470258.1_Missense_Mutation_p.R39T	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	236						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		GGAAATAAAAGAATCCAAGTA	0.358																																						uc001uxc.2		NaN																	0				skin(1)	1						c.(706-708)AGA>ACA		NHL repeat containing 3 isoform a							137.0	139.0	138.0					13																	39621205		2203	4300	6503	SO:0001583	missense	387921					extracellular region		g.chr13:39621205G>C		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.707G>C	13.37:g.39621205G>C	ENSP00000368920:p.Arg236Thr					NHLRC3_uc001uxd.2_Missense_Mutation_p.R169T|NHLRC3_uc001uxe.2_Missense_Mutation_p.R39T	p.R236T	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	6	1029	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	236			NHL 3.		B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	ENST00000379600.3	37	c.707G>C	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012648	0.93346	.	.	ENSG00000188811	ENST00000470258;ENST00000379600;ENST00000379599	T;T;T	0.78816	-1.21;-1.21;-1.21	5.68	5.68	0.88126	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.91570	0.7337	M	0.93678	3.445	0.47153	D	0.999331	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92988	0.6412	9	.	.	.	-27.3398	19.1407	0.93445	0.0:0.0:1.0:0.0	.	169;236	B4DTL0;Q5JS37	.;NHLC3_HUMAN	T	39;236;169	ENSP00000418127:R39T;ENSP00000368920:R236T;ENSP00000368919:R169T	.	R	+	2	0	NHLRC3	38519205	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.212000	0.95126	2.838000	0.97847	0.563000	0.77884	AGA		0.358	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2		NM_001012754		20	40	0	0	0	0.001523	0	20	40		
PCDH8	5100	broad.mit.edu	37	13	53422431	53422431	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:53422431C>T	ENST00000377942.3	-	1	344	c.141G>A	c.(139-141)ggG>ggA	p.G47G	PCDH8_ENST00000338862.4_Silent_p.G47G	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	47	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGGCCAGGGTCCCGATGACCG	0.602																																					GBM(36;25 841 9273 49207)	uc001vhi.2		NaN																	0				breast(1)	1						c.(139-141)GGG>GGA		protocadherin 8 isoform 1 precursor							97.0	92.0	94.0					13																	53422431		2203	4300	6503	SO:0001819	synonymous_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53422431C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.141G>A	13.37:g.53422431C>T						PCDH8_uc001vhj.2_Silent_p.G47G	p.G47G	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	344	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	47			Extracellular (Potential).|Cadherin 1.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	c.141G>A	CCDS9438.1																																																																																				0.602	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2		NM_002590		24	85	0	0	0	0.00333	0	24	85		
GPC5	2262	broad.mit.edu	37	13	92560309	92560309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:92560309C>T	ENST00000377067.3	+	6	1771	c.1399C>T	c.(1399-1401)Cag>Tag	p.Q467*		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	467					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCATGTTGTTCAGGTAAGTCC	0.313																																						uc010tif.1		NaN																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(1399-1401)CAG>TAG		glypican 5 precursor							55.0	56.0	55.0					13																	92560309		1338	2302	3640	SO:0001587	stop_gained	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92560309C>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1399C>T	13.37:g.92560309C>T	ENSP00000366267:p.Gln467*						p.Q467*	NM_004466	NP_004457	P78333	GPC5_HUMAN			6	1765	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	467					B2R726|O60436|Q9BX27	Nonsense_Mutation	SNP	ENST00000377067.3	37	c.1399C>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	39	7.331034	0.98217	.	.	ENSG00000179399	ENST00000377067	.	.	.	4.84	4.84	0.62591	.	0.144833	0.48767	D	0.000173	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.4142	15.4418	0.75190	0.0:1.0:0.0:0.0	.	.	.	.	X	467	.	ENSP00000366267:Q467X	Q	+	1	0	GPC5	91358310	1.000000	0.71417	0.968000	0.41197	0.171000	0.22731	6.879000	0.75572	2.404000	0.81709	0.585000	0.79938	CAG		0.313	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1		NM_004466		7	14	0	0	0	0.00308	0	7	14		
GPC6	10082	broad.mit.edu	37	13	93879779	93879779	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:93879779G>A	ENST00000377047.4	+	1	685	c.70G>A	c.(70-72)Gat>Aat	p.D24N		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	24					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CGCCGGGGCGGATGTGAAGGC	0.632											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001vlt.2		NaN																	0					0						c.(70-72)GAT>AAT		glypican 6 precursor							80.0	81.0	81.0					13																	93879779		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:93879779G>A	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.70G>A	13.37:g.93879779G>A	ENSP00000366246:p.Asp24Asn		OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1301	GPC6_uc010tig.1_Missense_Mutation_p.D24N	p.D24N	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN			1	702	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	24					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.70G>A	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873526	0.72180	.	.	ENSG00000183098	ENST00000377047	T	0.50001	0.76	5.62	5.62	0.85841	.	0.000000	0.46145	D	0.000306	T	0.49508	0.1561	L	0.49350	1.555	0.38341	D	0.944081	B;B	0.26708	0.117;0.157	B;B	0.34301	0.119;0.179	T	0.46331	-0.9199	10	0.29301	T	0.29	.	19.2868	0.94082	0.0:0.0:1.0:0.0	.	24;24	B4E2M1;Q9Y625	.;GPC6_HUMAN	N	24	ENSP00000366246:D24N	ENSP00000366246:D24N	D	+	1	0	GPC6	92677780	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.165000	0.77544	2.660000	0.90430	0.655000	0.94253	GAT		0.632	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4		NM_005708		12	41	0	0	0	0.000978	0	12	41		
UGGT2	55757	broad.mit.edu	37	13	96506627	96506627	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:96506627G>T	ENST00000376747.3	-	35	4181	c.4111C>A	c.(4111-4113)Cgt>Agt	p.R1371S		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1371	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTCCAGAAACGATATCCATCC	0.393																																						uc001vmt.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(4111-4113)CGT>AGT		UDP-glucose ceramide glucosyltransferase-like 2							114.0	109.0	111.0					13																	96506627		2203	4300	6503	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96506627G>T	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.4111C>A	13.37:g.96506627G>T	ENSP00000365938:p.Arg1371Ser					UGGT2_uc001vms.2_Missense_Mutation_p.R91S	p.R1371S	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			35	4281	-			1371			Glucosyltransferase.		A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.4111C>A	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	G	32	5.105631	0.94292	.	.	ENSG00000102595	ENST00000376747	T	0.38401	1.14	5.37	5.37	0.77165	.	0.051993	0.85682	D	0.000000	T	0.69904	0.3163	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77624	-0.2518	10	0.87932	D	0	-6.4408	19.0987	0.93265	0.0:0.0:1.0:0.0	.	1371	Q9NYU1	UGGG2_HUMAN	S	1371	ENSP00000365938:R1371S	ENSP00000365938:R1371S	R	-	1	0	UGGT2	95304628	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	9.476000	0.97823	2.512000	0.84698	0.591000	0.81541	CGT		0.393	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1		NM_020121		9	31	1	0	0.000442599	0.006214	0.000766963	9	31		
CHAMP1	283489	broad.mit.edu	37	13	115090045	115090045	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:115090045C>T	ENST00000361283.1	+	3	1037	c.728C>T	c.(727-729)tCa>tTa	p.S243L		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	243	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CCTTCAGCCTCATCTCCAGAG	0.552																																						uc010ahb.2		NaN																	0				ovary(2)	2						c.(727-729)TCA>TTA		zinc finger protein 828							77.0	89.0	85.0					13																	115090045		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090045C>T	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.728C>T	13.37:g.115090045C>T	ENSP00000354730:p.Ser243Leu					ZNF828_uc001vuv.2_Missense_Mutation_p.S243L|ZNF828_uc010tko.1_Missense_Mutation_p.S243L	p.S243L	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)	3	1057	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	243			Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.728C>T	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	C	6.356	0.433740	0.12045	.	.	ENSG00000198824	ENST00000361283	T	0.01165	5.24	6.11	4.3	0.51218	.	0.954533	0.08626	N	0.917742	T	0.00666	0.0022	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.47302	-0.9128	9	.	.	.	-2.8708	8.1837	0.31326	0.0:0.6808:0.0:0.3192	.	243	Q96JM3	ZN828_HUMAN	L	243	ENSP00000354730:S243L	.	S	+	2	0	ZNF828	114108147	0.001000	0.12720	0.783000	0.31826	0.827000	0.46813	0.672000	0.25187	0.826000	0.34661	0.655000	0.94253	TCA		0.552	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2		NM_032436		40	67	0	0	0	0.00623	0	40	67		
OR4M1	441670	broad.mit.edu	37	14	20248955	20248955	+	Silent	SNP	A	A	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:20248955A>T	ENST00000315957.4	+	1	555	c.474A>T	c.(472-474)atA>atT	p.I158I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTCTATAATACAGGTGGCTC	0.502																																						uc010tku.1		NaN																	0					0						c.(472-474)ATA>ATT		olfactory receptor, family 4, subfamily M,							251.0	261.0	258.0					14																	20248955		2203	4300	6503	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248955A>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.474A>T	14.37:g.20248955A>T							p.I158I	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	474	+	all_cancers(95;0.00108)		158			Helical; Name=4; (Potential).		B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.474A>T	CCDS32021.1																																																																																				0.502	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1				38	292	0	0	0	0.006999	0	38	292		
TGM1	7051	broad.mit.edu	37	14	24729739	24729739	+	Missense_Mutation	SNP	C	C	A	rs549195122		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:24729739C>A	ENST00000206765.6	-	4	797	c.674G>T	c.(673-675)cGc>cTc	p.R225L	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	225			R -> H (in ARCI1).|R -> P (in ARCI1).		cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGATTGTGTGCGGACTGTGAA	0.587																																						uc001wod.2		NaN																	0				central_nervous_system(2)|ovary(1)	3	GRCh37	CM981915	TGM1	M		c.(673-675)CGC>CTC		transglutaminase 1	L-Glutamine(DB00130)						193.0	163.0	173.0					14																	24729739		2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24729739C>A	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.674G>T	14.37:g.24729739C>A	ENSP00000206765:p.Arg225Leu					TGM1_uc010tog.1_Intron	p.R225L	NM_000359	NP_000350	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	4	798	-			225		R -> P (in ARCI-TGM1).|R -> H (in ARCI-TGM1).			B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.674G>T	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762162	0.49468	.	.	ENSG00000092295	ENST00000206765	D	0.84730	-1.89	6.02	6.02	0.97574	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.400337	0.29376	N	0.012331	D	0.83501	0.5268	L	0.37630	1.12	0.80722	D	1	D	0.53885	0.963	P	0.53861	0.736	T	0.80299	-0.1441	10	0.30078	T	0.28	-23.9883	9.3387	0.38067	0.0:0.8486:0.0:0.1514	.	225	P22735	TGM1_HUMAN	L	225	ENSP00000206765:R225L	ENSP00000206765:R225L	R	-	2	0	TGM1	23799579	0.966000	0.33281	0.997000	0.53966	0.326000	0.28443	1.335000	0.33839	2.865000	0.98341	0.655000	0.94253	CGC		0.587	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6		NM_000359		20	64	1	0	1.2644e-06	0.001523	2.26604e-06	20	64		
FANCM	57697	broad.mit.edu	37	14	45642298	45642298	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:45642298C>G	ENST00000267430.5	+	13	2286	c.2201C>G	c.(2200-2202)tCt>tGt	p.S734C	FANCM_ENST00000542564.2_Missense_Mutation_p.S708C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	734					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CTCTCTCTCTCTGAATGGAGA	0.363								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3		NaN																	0				ovary(3)|lung(2)|breast(2)	7						c.(2200-2202)TCT>TGT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							129.0	119.0	122.0					14																	45642298		2203	4300	6503	SO:0001583	missense	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45642298C>G	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2201C>G	14.37:g.45642298C>G	ENSP00000267430:p.Ser734Cys					FANCM_uc010anf.2_Missense_Mutation_p.S708C|FANCM_uc001wwe.3_Missense_Mutation_p.S270C|FANCM_uc010ang.2_5'Flank	p.S734C	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			13	2300	+			734					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.2201C>G	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241373	0.39598	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.22134	2.63;2.63;1.97	5.79	3.85	0.44370	.	0.280199	0.35207	N	0.003363	T	0.18759	0.0450	L	0.40543	1.245	0.32917	D	0.515301	B;B	0.16396	0.017;0.017	B;B	0.17098	0.017;0.01	T	0.14868	-1.0457	10	0.54805	T	0.06	.	12.3549	0.55169	0.1333:0.7383:0.1284:0.0	.	708;734	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	C	734;708;250	ENSP00000267430:S734C;ENSP00000442493:S708C;ENSP00000452033:S250C	ENSP00000267430:S734C	S	+	2	0	FANCM	44712048	0.941000	0.31946	1.000000	0.80357	0.967000	0.64934	1.177000	0.31969	1.429000	0.47314	0.561000	0.74099	TCT		0.363	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1		XM_048128		22	42	0	0	0	0.002299	0	22	42		
PYGL	5836	broad.mit.edu	37	14	51378884	51378884	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:51378884C>T	ENST00000216392.7	-	14	2090	c.1758G>A	c.(1756-1758)acG>acA	p.T586T	PYGL_ENST00000532462.1_Silent_p.T586T|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000544180.2_Silent_p.T552T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	586					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GGTTGTACATCGTGATCACAT	0.512																																						uc001wyu.2		NaN																	0				skin(1)	1						c.(1756-1758)ACG>ACA		liver glycogen phosphorylase isoform 1	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						171.0	151.0	158.0					14																	51378884		2203	4300	6503	SO:0001819	synonymous_variant	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51378884C>T		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1758G>A	14.37:g.51378884C>T						PYGL_uc010tqq.1_Silent_p.T552T|PYGL_uc001wyv.2_Silent_p.T260T	p.T586T	NM_002863	NP_002854	P06737	PYGL_HUMAN			14	1885	-	all_epithelial(31;0.00825)|Breast(41;0.148)		586					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	c.1758G>A	CCDS32080.1																																																																																				0.512	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3		NM_002863		32	95	0	0	0	0.001786	0	32	95		
KCNH5	27133	broad.mit.edu	37	14	63447854	63447854	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:63447854G>C	ENST00000322893.7	-	6	946	c.678C>G	c.(676-678)ttC>ttG	p.F226L	KCNH5_ENST00000394968.1_Missense_Mutation_p.F168L|KCNH5_ENST00000394964.2_Missense_Mutation_p.F168L|KCNH5_ENST00000420622.2_Missense_Mutation_p.F226L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	226					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGGCGGTGTAGAAGGTAAGAA	0.388																																						uc001xfx.2		NaN																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(676-678)TTC>TTG		potassium voltage-gated channel, subfamily H,							76.0	76.0	76.0					14																	63447854		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63447854G>C	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.678C>G	14.37:g.63447854G>C	ENSP00000321427:p.Phe226Leu					KCNH5_uc001xfy.2_Missense_Mutation_p.F226L|KCNH5_uc001xfz.1_Missense_Mutation_p.F168L|KCNH5_uc001xga.2_Missense_Mutation_p.F168L	p.F226L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	6	729	-			226			Helical; Name=Segment S1; (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.678C>G	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284157	0.23392	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12	5.43	2.6	0.31112	.	0.000000	0.85682	D	0.000000	D	0.94978	0.8375	L	0.53780	1.695	0.80722	D	1	B;P;P;P	0.45283	0.041;0.603;0.603;0.855	B;B;B;P	0.48334	0.042;0.283;0.283;0.574	D	0.91570	0.5271	10	0.33940	T	0.23	.	10.8389	0.46704	0.208:0.0:0.792:0.0	.	168;168;226;226	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	L	226;226;168;168	ENSP00000321427:F226L;ENSP00000395439:F226L;ENSP00000378419:F168L;ENSP00000378415:F168L	ENSP00000321427:F226L	F	-	3	2	KCNH5	62517607	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.641000	0.74324	0.264000	0.21851	-0.237000	0.12165	TTC		0.388	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1		NM_139318		26	29	0	0	0	0.007291	0	26	29		
SYNE2	23224	broad.mit.edu	37	14	64588835	64588835	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:64588835C>G	ENST00000344113.4	+	69	13476	c.13264C>G	c.(13264-13266)Cag>Gag	p.Q4422E	SYNE2_ENST00000358025.3_Missense_Mutation_p.Q4422E|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q1056E|SYNE2_ENST00000357395.3_Missense_Mutation_p.Q807E|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q807E|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q4437E|SYNE2_ENST00000553455.1_Missense_Mutation_p.Q141E	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4422					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGATACAACTCAGGAATCATC	0.328																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(13264-13266)CAG>GAG		spectrin repeat containing, nuclear envelope 2							87.0	89.0	88.0					14																	64588835		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64588835C>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13264C>G	14.37:g.64588835C>G	ENSP00000341781:p.Gln4422Glu					SYNE2_uc001xgl.2_Missense_Mutation_p.Q4422E|SYNE2_uc010apy.2_Missense_Mutation_p.Q807E|SYNE2_uc010apz.1_Missense_Mutation_p.Q314E	p.Q4422E	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	69	13494	+			4422			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.13264C>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426651	0.43020	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553455	T;T;T;T;T;T	0.57752	0.79;4.08;0.79;0.38;4.14;4.08	4.84	2.96	0.34315	.	0.457002	0.18711	N	0.133295	T	0.49592	0.1566	M	0.64404	1.975	0.80722	D	1	B;B;B	0.17038	0.02;0.002;0.007	B;B;B	0.18561	0.022;0.002;0.007	T	0.43426	-0.9392	10	0.38643	T	0.18	.	12.6977	0.57014	0.0:0.6818:0.3182:0.0	.	807;4422;4422	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	E	4422;807;4422;4437;4437;1056;807;141	ENSP00000350719:Q4422E;ENSP00000349969:Q807E;ENSP00000341781:Q4422E;ENSP00000452570:Q4437E;ENSP00000450831:Q1056E;ENSP00000378249:Q807E	ENSP00000261678:Q4437E	Q	+	1	0	SYNE2	63658588	0.856000	0.29760	0.366000	0.25914	0.553000	0.35397	0.944000	0.29043	0.530000	0.28619	0.650000	0.86243	CAG		0.328	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		39	56	0	0	0	0.006999	0	39	56		
ACTN1	87	broad.mit.edu	37	14	69387726	69387726	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:69387726C>T	ENST00000193403.6	-	3	720	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	ACTN1_ENST00000538545.2_Missense_Mutation_p.E113K|ACTN1_ENST00000394419.4_Missense_Mutation_p.E113K|ACTN1_ENST00000376839.3_Missense_Mutation_p.E48K|ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000438964.2_Missense_Mutation_p.E113K	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	113	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GCCTTACCTTCGGCTCCGATG	0.557																																						uc001xkl.2		NaN																	0				central_nervous_system(1)	1						c.(337-339)GAA>AAA		actinin, alpha 1 isoform b							181.0	153.0	163.0					14																	69387726		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69387726C>T	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.337G>A	14.37:g.69387726C>T	ENSP00000193403:p.Glu113Lys					ACTN1_uc010ttb.1_Missense_Mutation_p.E48K|ACTN1_uc001xkm.2_Missense_Mutation_p.E113K|ACTN1_uc001xkn.2_Missense_Mutation_p.E113K|ACTN1_uc001xko.1_Missense_Mutation_p.E48K|ACTN1_uc010ttd.1_Missense_Mutation_p.E92K	p.E113K	NM_001102	NP_001093	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	3	647	-			113			CH 1.|Actin-binding.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.337G>A	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	C	33	5.288238	0.95517	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000555616;ENST00000556433;ENST00000553370;ENST00000553779;ENST00000556571	D;D;D;D;D;D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99	5.0	5.0	0.66597	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97707	0.9248	M	0.69185	2.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.97110	1.0;0.997;0.935;0.978	D	0.98393	1.0564	10	0.87932	D	0	.	17.2287	0.86978	0.0:1.0:0.0:0.0	.	113;113;113;113	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	K	113;113;113;48;113;48;92;48;48;90	ENSP00000193403:E113K;ENSP00000377941:E113K;ENSP00000414272:E113K;ENSP00000366035:E48K;ENSP00000439828:E113K;ENSP00000450903:E48K;ENSP00000450764:E92K;ENSP00000450925:E48K;ENSP00000450618:E48K;ENSP00000452423:E90K	ENSP00000193403:E113K	E	-	1	0	ACTN1	68457479	1.000000	0.71417	0.934000	0.37439	0.929000	0.56500	7.431000	0.80335	2.621000	0.88768	0.561000	0.74099	GAA		0.557	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3		NM_001102		28	99	0	0	0	0.008361	0	28	99		
ANGEL1	23357	broad.mit.edu	37	14	77273020	77273020	+	Silent	SNP	G	G	A	rs561771867		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:77273020G>A	ENST00000251089.2	-	5	1231	c.1119C>T	c.(1117-1119)ctC>ctT	p.L373L	ANGEL1_ENST00000557179.1_5'Flank|ANGEL1_ENST00000554941.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	373										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CTTCTGGGACGAGTGGTTGCA	0.577													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21531	0.0		0.0	False		,,,				2504	0.0					uc001xsv.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1117-1119)CTC>CTT		angel homolog 1							85.0	87.0	87.0					14																	77273020		2203	4300	6503	SO:0001819	synonymous_variant	23357							g.chr14:77273020G>A	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1119C>T	14.37:g.77273020G>A						ANGEL1_uc010tvf.1_Intron	p.L373L	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	5	1232	-			373					B4DWL7|O94859|Q8NCS9	Silent	SNP	ENST00000251089.2	37	c.1119C>T	CCDS9852.1																																																																																				0.577	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2		NM_015305		62	72	0	0	0	0.00361	0	62	72		
SERPINA4	5267	broad.mit.edu	37	14	95033521	95033521	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:95033521G>C	ENST00000557004.1	+	3	1285	c.864G>C	c.(862-864)gaG>gaC	p.E288D	SERPINA4_ENST00000298841.5_Missense_Mutation_p.E288D|SERPINA4_ENST00000555095.1_Missense_Mutation_p.E288D|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	288					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		AAATGAGGGAGATTGAAGAGG	0.468																																						uc001ydk.2		NaN																	0				ovary(3)|skin(1)	4						c.(862-864)GAG>GAC		serine (or cysteine) proteinase inhibitor, clade							100.0	97.0	98.0					14																	95033521		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95033521G>C	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.864G>C	14.37:g.95033521G>C	ENSP00000450838:p.Glu288Asp					SERPINA4_uc010avd.2_Missense_Mutation_p.E325D|SERPINA4_uc001ydl.2_Missense_Mutation_p.E288D	p.E288D	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	930	+			288					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.864G>C	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.567150	0.28003	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84516	-1.86;-1.86;-1.86	4.56	0.341	0.15991	Serpin domain (3);	0.582581	0.14589	N	0.310367	T	0.73481	0.3592	N	0.21583	0.68	0.19300	N	0.999975	B;B	0.33345	0.409;0.058	B;B	0.38755	0.281;0.041	T	0.62134	-0.6918	10	0.36615	T	0.2	.	4.7194	0.12912	0.3215:0.0:0.5388:0.1397	.	288;288	B2R815;P29622	.;KAIN_HUMAN	D	288	ENSP00000450838:E288D;ENSP00000451172:E288D;ENSP00000298841:E288D	ENSP00000298841:E288D	E	+	3	2	SERPINA4	94103274	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.285000	0.08410	0.135000	0.18707	-0.221000	0.12465	GAG		0.468	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1		NM_006215		15	27	0	0	0	0.003163	0	15	27		
CLMN	79789	broad.mit.edu	37	14	95669499	95669499	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:95669499G>A	ENST00000298912.4	-	9	2300	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	729					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CATAGTGTGGGAAATAGAAGA	0.522																																						uc001yef.2		NaN																	0					0						c.(2185-2187)TTC>TTT		calmin							41.0	44.0	43.0					14																	95669499		2203	4300	6503	SO:0001819	synonymous_variant	79789					integral to membrane	actin binding	g.chr14:95669499G>A	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2187C>T	14.37:g.95669499G>A							p.F729F	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	2303	-			729					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP	ENST00000298912.4	37	c.2187C>T	CCDS9933.1																																																																																				0.522	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2				18	42	0	0	0	0.006122	0	18	42		
CTDSPL2	51496	broad.mit.edu	37	15	44788618	44788618	+	Silent	SNP	G	G	A	rs551432944		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:44788618G>A	ENST00000260327.4	+	6	1295	c.732G>A	c.(730-732)gcG>gcA	p.A244A	CTDSPL2_ENST00000558373.1_Silent_p.A172A|CTDSPL2_ENST00000558966.1_Silent_p.A244A|CTDSPL2_ENST00000561189.1_3'UTR|CTDSPL2_ENST00000396780.1_Silent_p.A172A	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	244			A -> V (in dbSNP:rs871923).				phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		CAGCCCACGCGGAGGCCACCT	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		18394	0.0		0.0	False		,,,				2504	0.001					uc001ztr.2		NaN																	0					0						c.(730-732)GCG>GCA		CTD (carboxy-terminal domain, RNA polymerase II,							108.0	107.0	107.0					15																	44788618		2198	4298	6496	SO:0001819	synonymous_variant	51496						phosphoprotein phosphatase activity	g.chr15:44788618G>A	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.732G>A	15.37:g.44788618G>A						CTDSPL2_uc001zts.2_Silent_p.A244A|CTDSPL2_uc001ztt.2_Silent_p.A244A|CTDSPL2_uc010bdv.2_Silent_p.A172A	p.A244A	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)	6	1148	+		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	244					Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Silent	SNP	ENST00000260327.4	37	c.732G>A	CCDS10110.1																																																																																				0.363	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1		NM_016396		14	34	0	0	0	0.003163	0	14	34		
ATP8B4	79895	broad.mit.edu	37	15	50152596	50152596	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:50152596G>C	ENST00000284509.6	-	28	3515	c.3374C>G	c.(3373-3375)tCa>tGa	p.S1125*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.S1125*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1125						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGACCTTCTTGAGCTTGACCT	0.522																																						uc001zxu.2		NaN																	0				skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(3373-3375)TCA>TGA		ATPase class I type 8B member 4							100.0	92.0	95.0					15																	50152596		2196	4295	6491	SO:0001587	stop_gained	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50152596G>C	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3374C>G	15.37:g.50152596G>C	ENSP00000284509:p.Ser1125*					ATP8B4_uc010ber.2_Nonsense_Mutation_p.S998*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.S935*|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Nonsense_Mutation_p.S128*	p.S1125*	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	28	3516	-		all_lung(180;0.00183)	1125			Cytoplasmic (Potential).		Q9H727	Nonsense_Mutation	SNP	ENST00000284509.6	37	c.3374C>G	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	G	42	9.163337	0.99085	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	16.8328	0.85949	0.0:0.0:1.0:0.0	.	.	.	.	X	1125	.	ENSP00000284509:S1125X	S	-	2	0	ATP8B4	47939888	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.969000	0.76092	2.574000	0.86865	0.455000	0.32223	TCA		0.522	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1		NM_024837		21	55	0	0	0	0.001523	0	21	55		
ATP8B4	79895	broad.mit.edu	37	15	50189570	50189570	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:50189570G>C	ENST00000284509.6	-	23	2757	c.2616C>G	c.(2614-2616)ttC>ttG	p.F872L	ATP8B4_ENST00000559829.1_Missense_Mutation_p.F872L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	872						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AATAGCATAAGAATTTGCACA	0.383																																						uc001zxu.2		NaN																	0				skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(2614-2616)TTC>TTG		ATPase class I type 8B member 4							149.0	164.0	159.0					15																	50189570		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50189570G>C	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2616C>G	15.37:g.50189570G>C	ENSP00000284509:p.Phe872Leu					ATP8B4_uc010ber.2_Missense_Mutation_p.F745L|ATP8B4_uc010ufd.1_Missense_Mutation_p.F682L|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxv.1_Missense_Mutation_p.F170L	p.F872L	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	23	2758	-		all_lung(180;0.00183)	872			Helical; (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.2616C>G	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413522	0.83449	.	.	ENSG00000104043	ENST00000284509	T	0.38560	1.13	5.6	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	L	0.35341	1.055	0.46521	D	0.99908	D;D	0.76494	0.996;0.999	D;D	0.72075	0.976;0.972	T	0.29366	-1.0014	10	0.24483	T	0.36	.	8.4592	0.32917	0.2469:0.0:0.7531:0.0	.	92;872	B3KVY8;Q8TF62	.;AT8B4_HUMAN	L	872	ENSP00000284509:F872L	ENSP00000284509:F872L	F	-	3	2	ATP8B4	47976862	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.021000	0.41020	1.337000	0.45525	0.655000	0.94253	TTC		0.383	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1		NM_024837		68	140	0	0	0	0.00361	0	68	140		
HDC	3067	broad.mit.edu	37	15	50535004	50535004	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:50535004G>A	ENST00000267845.3	-	12	1844	c.1442C>T	c.(1441-1443)tCc>tTc	p.S481F	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.S448F	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		GCTGGGTTGGGAAGTACAGTG	0.552																																					GBM(95;1627 1936 6910 9570)	uc001zxz.2		NaN																	0				large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1441-1443)TCC>TTC		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						44.0	48.0	46.0					15																	50535004		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50535004G>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1442C>T	15.37:g.50535004G>A	ENSP00000267845:p.Ser481Phe					HDC_uc001zxy.2_Missense_Mutation_p.S224F|HDC_uc010uff.1_Missense_Mutation_p.S448F	p.S481F	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	12	1548	-		all_lung(180;0.0138)	481						Missense_Mutation	SNP	ENST00000267845.3	37	c.1442C>T	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571063	0.28003	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.10099	3.03;2.91	5.95	5.04	0.67666	.	0.275850	0.36778	N	0.002402	T	0.07324	0.0185	L	0.38175	1.15	0.18873	N	0.999983	P;B	0.42735	0.788;0.003	B;B	0.33339	0.162;0.005	T	0.34527	-0.9825	10	0.59425	D	0.04	-18.7927	6.3631	0.21439	0.1577:0.2754:0.5668:0.0	.	448;481	B7ZM01;P19113	.;DCHS_HUMAN	F	481;448	ENSP00000267845:S481F;ENSP00000440252:S448F	ENSP00000267845:S481F	S	-	2	0	HDC	48322296	0.216000	0.23585	0.999000	0.59377	0.671000	0.39405	1.727000	0.38095	1.534000	0.49203	0.563000	0.77884	TCC		0.552	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1				13	31	0	0	0	0.001368	0	13	31		
IGDCC3	9543	broad.mit.edu	37	15	65667594	65667594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:65667594C>A	ENST00000327987.4	-	2	501	c.250G>T	c.(250-252)Gag>Tag	p.E84*		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	84	Ig-like C2-type 1.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGGTACTCTCTGGCAGCTCT	0.602																																						uc002aos.2		NaN																	0				ovary(3)	3						c.(250-252)GAG>TAG		putative neuronal cell adhesion molecule							85.0	64.0	71.0					15																	65667594		2201	4299	6500	SO:0001587	stop_gained	9543							g.chr15:65667594C>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.250G>T	15.37:g.65667594C>A	ENSP00000332773:p.Glu84*						p.E84*	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN			2	502	-			84			Extracellular (Potential).|Ig-like C2-type 1.		O95215	Nonsense_Mutation	SNP	ENST00000327987.4	37	c.250G>T	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189392	0.94923	.	.	ENSG00000174498	ENST00000327987	.	.	.	5.63	4.7	0.59300	.	0.724610	0.13747	N	0.365510	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-11.1553	9.9887	0.41856	0.0:0.7894:0.1394:0.0712	.	.	.	.	X	84	.	ENSP00000332773:E84X	E	-	1	0	IGDCC3	63454647	1.000000	0.71417	0.023000	0.16930	0.208000	0.24298	4.102000	0.57776	1.364000	0.46038	-0.175000	0.13238	GAG		0.602	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1		NM_004884		9	23	1	0	1.04858e-14	0.006214	1.96073e-14	9	23		
KIF23	9493	broad.mit.edu	37	15	69728485	69728485	+	Missense_Mutation	SNP	G	G	A	rs149564859		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:69728485G>A	ENST00000260363.4	+	13	1398	c.1281G>A	c.(1279-1281)atG>atA	p.M427I	KIF23_ENST00000558585.1_Missense_Mutation_p.M244I|KIF23_ENST00000537891.1_Missense_Mutation_p.M244I|KIF23_ENST00000559279.1_Missense_Mutation_p.M427I|KIF23_ENST00000352331.4_Missense_Mutation_p.M427I|KIF23_ENST00000395392.2_Missense_Mutation_p.M427I	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	427	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AGCAAGTCATGAGATTTGCGG	0.368																																						uc002asb.2		NaN																	0					0						c.(1279-1281)ATG>ATA		kinesin family member 23 isoform 1							94.0	94.0	94.0					15																	69728485		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69728485G>A	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1281G>A	15.37:g.69728485G>A	ENSP00000260363:p.Met427Ile					KIF23_uc002asc.2_Missense_Mutation_p.M427I|KIF23_uc010bii.2_Missense_Mutation_p.M317I|KIF23_uc010ukc.1_Missense_Mutation_p.M244I|KIF23_uc010bih.1_RNA	p.M427I	NM_138555	NP_612565	Q02241	KIF23_HUMAN			13	1398	+			427					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.1281G>A	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812310	0.90707	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.77	5.77	0.91146	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.78698	0.4324	L	0.37697	1.125	0.80722	D	1	D;D;D	0.71674	0.975;0.979;0.998	D;P;D	0.68039	0.925;0.64;0.955	T	0.79850	-0.1629	10	0.72032	D	0.01	.	18.9737	0.92725	0.0:0.0:1.0:0.0	.	244;427;427	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	I	427;427;427;244	ENSP00000260363:M427I;ENSP00000304978:M427I;ENSP00000378790:M427I;ENSP00000442969:M244I	ENSP00000260363:M427I	M	+	3	0	KIF23	67515539	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	7.761000	0.85260	2.715000	0.92844	0.655000	0.94253	ATG		0.368	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding					15	44	0	0	0	0.00499	0	15	44		
THSD4	79875	broad.mit.edu	37	15	72039333	72039333	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:72039333C>G	ENST00000355327.3	+	13	2327	c.2193C>G	c.(2191-2193)tgC>tgG	p.C731W	THSD4_ENST00000261862.6_Missense_Mutation_p.C731W|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.C371W			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	731	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.C731C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCAGCACCTGCCAACTCAAGA	0.657																																						uc002atb.1		NaN																	1	Substitution - coding silent(1)		kidney(1)	ovary(2)	2						c.(2191-2193)TGC>TGG		thrombospondin, type I, domain containing 4							26.0	33.0	31.0					15																	72039333		2135	4236	6371	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72039333C>G	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2193C>G	15.37:g.72039333C>G	ENSP00000347484:p.Cys731Trp					THSD4_uc002ate.2_Missense_Mutation_p.C371W	p.C731W	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			12	2272	+			731			TSP type-1 2.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.2193C>G	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549006	0.65311	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	D;D;D	0.81821	-1.54;-1.54;-1.54	4.96	4.96	0.65561	.	.	.	.	.	D	0.93986	0.8074	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96382	0.9282	9	0.87932	D	0	.	15.6793	0.77354	0.0:1.0:0.0:0.0	.	371;731	B4DR13;Q6ZMP0	.;THSD4_HUMAN	W	731;731;371	ENSP00000347484:C731W;ENSP00000261862:C731W;ENSP00000350413:C371W	ENSP00000261862:C731W	C	+	3	2	THSD4	69826387	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.805000	0.55575	2.290000	0.77057	0.650000	0.86243	TGC		0.657	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2		NM_024817		7	12	0	0	0	0.006214	0	7	12		
ISLR2	57611	broad.mit.edu	37	15	74425108	74425108	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:74425108C>T	ENST00000361742.3	+	4	782	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	ISLR2_ENST00000565159.1_Missense_Mutation_p.R5W|ISLR2_ENST00000445793.1_Missense_Mutation_p.R5W|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000435464.1_Missense_Mutation_p.R5W|ISLR2_ENST00000453268.2_Missense_Mutation_p.R5W|ISLR2_ENST00000419208.1_Missense_Mutation_p.R5W|ISLR2_ENST00000565540.1_Missense_Mutation_p.R5W	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	5					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GTTCCCCCTTCGGGCCCTGTG	0.622																																						uc002axd.2		NaN																	0					0						c.(13-15)CGG>TGG		immunoglobulin superfamily containing							30.0	30.0	30.0					15																	74425108		2196	4296	6492	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425108C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.13C>T	15.37:g.74425108C>T	ENSP00000355402:p.Arg5Trp					ISLR2_uc002axe.2_Missense_Mutation_p.R5W|ISLR2_uc010bjg.2_Missense_Mutation_p.R5W|ISLR2_uc010bjf.2_Missense_Mutation_p.R5W	p.R5W	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	782	+			5					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.13C>T	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780995	0.31502	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	4.8	-6.94	0.01633	.	0.766141	0.11461	N	0.561744	T	0.30103	0.0754	L	0.41824	1.3	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.19321	-1.0309	10	0.38643	T	0.18	.	0.1774	0.00120	0.2425:0.2244:0.1952:0.3379	.	5	Q6UXK2	ISLR2_HUMAN	W	5	ENSP00000403244:R5W;ENSP00000355402:R5W;ENSP00000411443:R5W;ENSP00000411834:R5W;ENSP00000408872:R5W	ENSP00000355402:R5W	R	+	1	2	ISLR2	72212161	0.000000	0.05858	0.000000	0.03702	0.216000	0.24613	0.044000	0.13992	-1.521000	0.01771	-0.481000	0.04817	CGG		0.622	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1		NM_020851		12	24	0	0	0	0.001855	0	12	24		
DNAJA4	55466	broad.mit.edu	37	15	78566699	78566699	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:78566699C>T	ENST00000394852.3	+	4	769	c.579C>T	c.(577-579)cgC>cgT	p.R193R	DNAJA4_ENST00000343789.3_Silent_p.R193R|DNAJA4_ENST00000394855.3_Silent_p.R222R|DNAJA4_ENST00000446172.2_Silent_p.R166R	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	193					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						CCAAGGACCGCTGCGAGAGCT	0.597																																						uc002bdj.1		NaN																	0				skin(1)	1						c.(577-579)CGC>CGT		DnaJ (Hsp40) homolog, subfamily A, member 4							65.0	59.0	61.0					15																	78566699		2196	4293	6489	SO:0001819	synonymous_variant	55466				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr15:78566699C>T	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.579C>T	15.37:g.78566699C>T						DNAJA4_uc002bdi.2_Silent_p.R222R|DNAJA4_uc002bdk.2_Silent_p.R166R|DNAJA4_uc002bdl.2_Silent_p.R108R|DNAJA4_uc002bdm.1_5'Flank	p.R193R	NM_001130182	NP_001123654	Q8WW22	DNJA4_HUMAN			4	696	+			193			CR-type.		E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Silent	SNP	ENST00000394852.3	37	c.579C>T	CCDS45316.1																																																																																				0.597	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1		NM_018602		18	36	0	0	0	0.006122	0	18	36		
FSD2	123722	broad.mit.edu	37	15	83447543	83447543	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:83447543C>T	ENST00000334574.8	-	6	1267	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	FSD2_ENST00000541889.1_Silent_p.L362L			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	362										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TGGAGCCCATCAGCTGCTCCA	0.473																																						uc002bjd.2		NaN																	0				central_nervous_system(1)	1						c.(1084-1086)CTG>CTA		fibronectin type III and SPRY domain containing							65.0	70.0	68.0					15																	83447543		1905	4115	6020	SO:0001819	synonymous_variant	123722							g.chr15:83447543C>T	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.1086G>A	15.37:g.83447543C>T						FSD2_uc010uol.1_Silent_p.L362L|FSD2_uc010uom.1_Silent_p.L362L	p.L362L	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN			6	1253	-			362					B3KVG1|B7ZM02	Silent	SNP	ENST00000334574.8	37	c.1086G>A	CCDS45332.1																																																																																				0.473	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1		NM_001007122		9	17	0	0	0	0.004482	0	9	17		
ACAN	176	broad.mit.edu	37	15	89402347	89402347	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:89402347G>A	ENST00000561243.1	+	11	6531	c.6531G>A	c.(6529-6531)gtG>gtA	p.V2177V	ACAN_ENST00000559004.1_Silent_p.V2177V|ACAN_ENST00000439576.2_Silent_p.V2177V|ACAN_ENST00000352105.7_Silent_p.V2177V			P16112	PGCA_HUMAN	aggrecan	2062	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.|G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCAGTGATGTGGGGACAGAGG	0.607																																						uc010upo.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(6529-6531)GTG>GTA		aggrecan isoform 2 precursor							65.0	70.0	68.0					15																	89402347		2081	4213	6294	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89402347G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6531G>A	15.37:g.89402347G>A						ACAN_uc010upp.1_Silent_p.V2177V|ACAN_uc002bna.2_RNA	p.V2177V	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6905	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2177					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.6531G>A	CCDS53970.1																																																																																				0.607	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135		19	60	0	0	0	0.007413	0	19	60		
PDIA2	64714	broad.mit.edu	37	16	335191	335191	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:335191C>G	ENST00000219406.6	+	5	804	c.786C>G	c.(784-786)ttC>ttG	p.F262L	PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Missense_Mutation_p.F259L	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	262					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCACGGAGTTCAACAGCCAGG	0.662																																						uc002cgn.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(784-786)TTC>TTG		protein disulfide isomerase A2 precursor							31.0	34.0	33.0					16																	335191		2104	4216	6320	SO:0001583	missense	64714				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	g.chr16:335191C>G	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.786C>G	16.37:g.335191C>G	ENSP00000219406:p.Phe262Leu					PDIA2_uc010bqt.1_Missense_Mutation_p.F107L|PDIA2_uc002cgo.1_Missense_Mutation_p.F262L	p.F262L	NM_006849	NP_006840	Q13087	PDIA2_HUMAN			10	1894	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	262					A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	c.786C>G	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	c	14.12	2.439530	0.43326	.	.	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.27104	1.69;1.69	3.99	3.99	0.46301	Thioredoxin-like fold (2);	0.176832	0.50627	D	0.000112	T	0.50222	0.1603	M	0.86343	2.81	0.49915	D	0.999838	D	0.54772	0.968	D	0.65233	0.933	T	0.55995	-0.8052	10	0.72032	D	0.01	.	8.9222	0.35619	0.0:0.8936:0.0:0.1064	.	262	Q13087	PDIA2_HUMAN	L	262;231;259	ENSP00000219406:F262L;ENSP00000384410:F259L	ENSP00000219406:F262L	F	+	3	2	PDIA2	275192	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	2.925000	0.48884	2.071000	0.62044	0.457000	0.33378	TTC		0.662	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3		NM_006849		7	29	0	0	0	0.001984	0	7	29		
CHTF18	63922	broad.mit.edu	37	16	844108	844108	+	Silent	SNP	C	C	T	rs371412265	byFrequency	TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:844108C>T	ENST00000262315.9	+	15	1920	c.1857C>T	c.(1855-1857)gaC>gaT	p.D619D	CHTF18_ENST00000317063.6_Intron|CHTF18_ENST00000455171.2_Silent_p.D647D	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	619					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TGCTGGGTGACGGGGACGCGG	0.662													C|||	2	0.000399361	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.0					uc002cke.3		NaN																	0				kidney(1)	1						c.(1855-1857)GAC>GAT		CTF18, chromosome transmission fidelity factor		C		1,4327		0,1,2163	37.0	45.0	42.0		1857	-10.3	0.0	16		42	0,8512		0,0,4256	no	coding-synonymous	CHTF18	NM_022092.2		0,1,6419	TT,TC,CC		0.0,0.0231,0.0078		619/976	844108	1,12839	2164	4256	6420	SO:0001819	synonymous_variant	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:844108C>T	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.1857C>T	16.37:g.844108C>T						CHTF18_uc002ckf.3_Silent_p.D647D|CHTF18_uc010brf.2_Silent_p.D201D|CHTF18_uc002ckg.3_Silent_p.D137D	p.D619D	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN			15	1920	+		Hepatocellular(780;0.00335)	619					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Silent	SNP	ENST00000262315.9	37	c.1857C>T	CCDS45371.1																																																																																				0.662	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3		NM_022092		13	56	0	0	0	0.001855	0	13	56		
TBC1D24	57465	broad.mit.edu	37	16	2546212	2546212	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:2546212C>T	ENST00000293970.5	+	2	196	c.63C>T	c.(61-63)gaC>gaT	p.D21D	TBC1D24_ENST00000567020.1_Silent_p.D21D|RP11-20I23.1_ENST00000564543.1_Silent_p.D21D|TBC1D24_ENST00000434757.2_Silent_p.D21D	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	21					neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CCATCCAGGACCTGGGGCCCA	0.637																																						uc002cql.2		NaN																	0					0						c.(61-63)GAC>GAT		TBC1 domain family, member 24							56.0	67.0	64.0					16																	2546212		2113	4239	6352	SO:0001819	synonymous_variant	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2546212C>T	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.63C>T	16.37:g.2546212C>T						TBC1D24_uc002cqk.2_Silent_p.D21D|TBC1D24_uc002cqm.2_Silent_p.D21D|TBC1D24_uc010bsm.2_5'Flank	p.D21D	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN			2	203	+			21					A0JNW3|B9A6M6|Q2KJ08	Silent	SNP	ENST00000293970.5	37	c.63C>T	CCDS55980.1																																																																																				0.637	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1		NM_020705		20	36	0	0	0	0.008871	0	20	36		
TBC1D24	57465	broad.mit.edu	37	16	2546956	2546956	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:2546956C>G	ENST00000293970.5	+	2	940	c.807C>G	c.(805-807)atC>atG	p.I269M	TBC1D24_ENST00000567020.1_Missense_Mutation_p.I269M|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.I269M|TBC1D24_ENST00000434757.2_Missense_Mutation_p.I269M	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	269					neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						AGCAGGACATCCGCACGTTCG	0.622																																						uc002cql.2		NaN																	0					0						c.(805-807)ATC>ATG		TBC1 domain family, member 24							63.0	70.0	68.0					16																	2546956		2162	4266	6428	SO:0001583	missense	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2546956C>G	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.807C>G	16.37:g.2546956C>G	ENSP00000293970:p.Ile269Met					TBC1D24_uc002cqk.2_Missense_Mutation_p.I269M|TBC1D24_uc002cqm.2_Missense_Mutation_p.I269M|TBC1D24_uc010bsm.2_5'Flank	p.I269M	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN			2	947	+			269					A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	c.807C>G	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	C	5.123	0.208393	0.09757	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.23754	1.89;1.89	5.24	3.05	0.35203	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.22742	0.0549	L	0.57536	1.79	0.58432	D	0.999997	B;B;P	0.35242	0.209;0.36;0.492	B;B;B	0.35510	0.05;0.1;0.204	T	0.02553	-1.1142	10	0.33141	T	0.24	-37.4058	7.0787	0.25219	0.0:0.5965:0.0:0.4035	.	269;269;269	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	M	269	ENSP00000293970:I269M;ENSP00000390106:I269M	ENSP00000293970:I269M	I	+	3	3	TBC1D24	2486957	0.029000	0.19370	0.997000	0.53966	0.234000	0.25298	-0.773000	0.04689	0.408000	0.25621	-0.140000	0.14226	ATC		0.622	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1		NM_020705		14	54	0	0	0	0.006122	0	14	54		
TBC1D24	57465	broad.mit.edu	37	16	2546965	2546965	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:2546965C>T	ENST00000293970.5	+	2	949	c.816C>T	c.(814-816)ttC>ttT	p.F272F	TBC1D24_ENST00000567020.1_Silent_p.F272F|RP11-20I23.1_ENST00000564543.1_Silent_p.F272F|TBC1D24_ENST00000434757.2_Silent_p.F272F	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	272					neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCCGCACGTTCGTCAGAGACA	0.622																																						uc002cql.2		NaN																	0					0						c.(814-816)TTC>TTT		TBC1 domain family, member 24							63.0	70.0	67.0					16																	2546965		2164	4267	6431	SO:0001819	synonymous_variant	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2546965C>T	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.816C>T	16.37:g.2546965C>T						TBC1D24_uc002cqk.2_Silent_p.F272F|TBC1D24_uc002cqm.2_Silent_p.F272F|TBC1D24_uc010bsm.2_5'Flank	p.F272F	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN			2	956	+			272					A0JNW3|B9A6M6|Q2KJ08	Silent	SNP	ENST00000293970.5	37	c.816C>T	CCDS55980.1																																																																																				0.622	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1		NM_020705		14	50	0	0	0	0.004007	0	14	50		
TNRC6A	27327	broad.mit.edu	37	16	24816470	24816470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:24816470C>T	ENST00000395799.3	+	14	4249	c.4120C>T	c.(4120-4122)Cag>Tag	p.Q1374*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.Q1325*|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1374					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ACTCTCCCCTCAGGTAAATAA	0.438																																						uc002dmm.2		NaN																	0				ovary(2)	2						c.(4120-4122)CAG>TAG		trinucleotide repeat containing 6A							97.0	95.0	95.0					16																	24816470		2197	4300	6497	SO:0001587	stop_gained	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24816470C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4120C>T	16.37:g.24816470C>T	ENSP00000379144:p.Gln1374*					TNRC6A_uc010bxs.2_Nonsense_Mutation_p.Q1121*|TNRC6A_uc002dmn.2_Nonsense_Mutation_p.Q1072*|TNRC6A_uc002dmo.2_Nonsense_Mutation_p.Q1013*|TNRC6A_uc002dmp.2_5'UTR|TNRC6A_uc002dmq.2_Nonsense_Mutation_p.Q41*	p.Q1374*	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	14	4234	+			1374					C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Nonsense_Mutation	SNP	ENST00000395799.3	37	c.4120C>T	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.911228|10.911228	0.99487|0.99487	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000315183;ENST00000395799|ENST00000450465	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77308	.|0.4111	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73943	.|-0.3823	.|4	0.45353|.	T|.	0.12|.	-5.3648|-5.3648	20.5373|20.5373	0.99239|0.99239	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1325;1374|264	.|.	ENSP00000326900:Q1325X|.	Q|S	+|+	1|2	0|0	TNRC6A|TNRC6A	24723971|24723971	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.247000|7.247000	0.78257|0.78257	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.438	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1		NM_020847		27	76	0	0	0	0.007291	0	27	76		
GTF3C1	2975	broad.mit.edu	37	16	27475748	27475748	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:27475748G>A	ENST00000356183.4	-	34	5780	c.5765C>T	c.(5764-5766)gCg>gTg	p.A1922V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.A1922V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1922					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGCTGCTCCCGCTGCAGCGGT	0.642																																						uc002dov.1		NaN																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(5764-5766)GCG>GTG		general transcription factor IIIC, polypeptide							87.0	96.0	93.0					16																	27475748		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27475748G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5765C>T	16.37:g.27475748G>A	ENSP00000348510:p.Ala1922Val					GTF3C1_uc002dou.2_Missense_Mutation_p.A1922V	p.A1922V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			34	5805	-			1922					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.5765C>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412767	0.25465	.	.	ENSG00000077235	ENST00000356183	T	0.22743	1.94	4.77	-2.8	0.05823	.	2.820080	0.01277	N	0.009628	T	0.08313	0.0207	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.001;0.002	T	0.13442	-1.0509	10	0.11794	T	0.64	-16.8498	0.4335	0.00475	0.3476:0.1661:0.2709:0.2154	.	1922;1922	Q12789;Q12789-3	TF3C1_HUMAN;.	V	1922	ENSP00000348510:A1922V	ENSP00000348510:A1922V	A	-	2	0	GTF3C1	27383249	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.678000	0.05209	-0.490000	0.06707	-0.521000	0.04368	GCG		0.642	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1		NM_001520		46	120	0	0	0	0.00361	0	46	120		
SH2B1	25970	broad.mit.edu	37	16	28878727	28878727	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:28878727G>C	ENST00000322610.8	+	5	1454	c.1015G>C	c.(1015-1017)Gac>Cac	p.D339H	SH2B1_ENST00000337120.5_Missense_Mutation_p.D339H|SH2B1_ENST00000359285.5_Missense_Mutation_p.D339H|SH2B1_ENST00000395532.4_Missense_Mutation_p.D339H|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Missense_Mutation_p.D29H|SH2B1_ENST00000538342.1_Missense_Mutation_p.D3H			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	339	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|PH.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGAGATGCCTGACCGGGAGAA	0.547																																						uc002dri.2		NaN																	0				ovary(2)	2						c.(1015-1017)GAC>CAC		SH2B adaptor protein 1 isoform 1							173.0	175.0	174.0					16																	28878727		2197	4300	6497	SO:0001583	missense	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28878727G>C	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1015G>C	16.37:g.28878727G>C	ENSP00000321221:p.Asp339His					uc010vct.1_Intron|SH2B1_uc010vdc.1_Missense_Mutation_p.D29H|SH2B1_uc002drj.2_Missense_Mutation_p.D339H|SH2B1_uc002drk.2_Missense_Mutation_p.D339H|SH2B1_uc002drl.2_Missense_Mutation_p.D339H|SH2B1_uc010vdd.1_Missense_Mutation_p.D3H|SH2B1_uc010vde.1_Missense_Mutation_p.D339H|SH2B1_uc002drm.2_Missense_Mutation_p.D339H	p.D339H	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN			5	1454	+			339			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.1015G>C	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634937	0.87760	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33	4.35	4.35	0.52113	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.152354	0.41294	D	0.000920	T	0.57695	0.2071	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.936;0.997;0.971;0.988;0.999	T	0.63134	-0.6705	10	0.87932	D	0	-7.442	16.0061	0.80363	0.0:0.0:1.0:0.0	.	3;29;339;339;339	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	H	339;29;339;3;339;339	ENSP00000321221:D339H;ENSP00000440354:D29H;ENSP00000352232:D339H;ENSP00000438784:D3H;ENSP00000378903:D339H;ENSP00000337163:D339H	ENSP00000321221:D339H	D	+	1	0	SH2B1	28786228	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.329000	0.96413	2.127000	0.65507	0.563000	0.77884	GAC		0.547	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1		NM_015503		53	145	0	0	0	0.00361	0	53	145		
MVP	9961	broad.mit.edu	37	16	29852959	29852959	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:29852959G>A	ENST00000357402.5	+	9	1372	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	MVP_ENST00000395353.1_Missense_Mutation_p.E412K|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	412					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GACCCAGGACGAAGTCCTGTG	0.617																																						uc002dui.2		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1234-1236)GAA>AAA		major vault protein							27.0	24.0	25.0					16																	29852959		2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29852959G>A	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1234G>A	16.37:g.29852959G>A	ENSP00000349977:p.Glu412Lys					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Missense_Mutation_p.E412K|MVP_uc010vea.1_Missense_Mutation_p.E6K	p.E412K	NM_005115	NP_005106	Q14764	MVP_HUMAN			9	1318	+			412			MVP 8.		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.1234G>A	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241347	0.79912	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.14893	2.47;2.47	5.61	5.61	0.85477	.	0.148857	0.64402	D	0.000015	T	0.51500	0.1678	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.61855	-0.6977	10	0.59425	D	0.04	-11.9549	17.1387	0.86747	0.0:0.0:1.0:0.0	.	412	Q14764	MVP_HUMAN	K	412	ENSP00000349977:E412K;ENSP00000378760:E412K	ENSP00000349977:E412K	E	+	1	0	MVP	29760460	1.000000	0.71417	0.731000	0.30826	0.944000	0.59088	7.739000	0.84976	2.627000	0.88993	0.563000	0.77884	GAA		0.617	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3		NM_005115		12	20	0	0	0	0.001368	0	12	20		
ZNF768	79724	broad.mit.edu	37	16	30535908	30535908	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:30535908C>T	ENST00000380412.5	-	2	1728	c.1553G>A	c.(1552-1554)tGc>tAc	p.C518Y	ZNF768_ENST00000562803.1_Missense_Mutation_p.C487Y	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	518					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGCCTTTCCGCAGTCATCGCA	0.692																																						uc002dyk.3		NaN																	0					0						c.(1552-1554)TGC>TAC		zinc finger protein 768							44.0	42.0	43.0					16																	30535908		2197	4300	6497	SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30535908C>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1553G>A	16.37:g.30535908C>T	ENSP00000369777:p.Cys518Tyr					ZNF768_uc010vex.1_Missense_Mutation_p.C487Y|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.C487Y	p.C518Y	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN			2	1729	-			518			C2H2-type 10.		Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	c.1553G>A	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802699	0.70682	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	D	0.85861	-2.04	4.72	4.72	0.59763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.328354	0.22463	N	0.059726	D	0.94301	0.8169	M	0.93197	3.39	0.54753	D	0.999981	D	0.76494	0.999	D	0.83275	0.996	D	0.95612	0.8673	10	0.87932	D	0	-1.3948	16.5926	0.84770	0.0:1.0:0.0:0.0	.	518	Q9H5H4	ZN768_HUMAN	Y	518;431	ENSP00000369777:C518Y	ENSP00000369777:C518Y	C	-	2	0	ZNF768	30443409	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.805000	0.69143	2.470000	0.83445	0.436000	0.28706	TGC		0.692	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2		NM_024671		11	32	0	0	0	0.001368	0	11	32		
OGFOD1	55239	broad.mit.edu	37	16	56509430	56509430	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:56509430G>A	ENST00000566157.1	+	12	1543	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	OGFOD1_ENST00000568397.1_Missense_Mutation_p.E431K	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	474					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CTGGGAGCCAGAATATGGCGG	0.383																																						uc002ejb.2		NaN																	0				skin(1)	1						c.(1420-1422)GAA>AAA		2-oxoglutarate and iron-dependent oxygenase	Vitamin C(DB00126)						167.0	162.0	164.0					16																	56509430		2198	4300	6498	SO:0001583	missense	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56509430G>A	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.1420G>A	16.37:g.56509430G>A	ENSP00000457258:p.Glu474Lys					OGFOD1_uc002ejc.2_Missense_Mutation_p.E334K	p.E474K	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN			12	1521	+			474					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	c.1420G>A	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717125	0.89205	.	.	ENSG00000087263	ENST00000336111;ENST00000540727	.	.	.	5.98	5.98	0.97165	Oxoglutarate/iron-dependent oxygenase, C-terminal degradation domain (1);	0.086229	0.85682	D	0.000000	T	0.67757	0.2927	M	0.62154	1.92	0.80722	D	1	P	0.35174	0.488	B	0.40410	0.328	T	0.65475	-0.6159	9	0.45353	T	0.12	-5.7703	20.4581	0.99154	0.0:0.0:1.0:0.0	.	474	Q8N543	OGFD1_HUMAN	K	474;318	.	ENSP00000337196:E474K	E	+	1	0	OGFOD1	55066931	1.000000	0.71417	0.935000	0.37517	0.857000	0.48899	8.850000	0.92190	2.835000	0.97688	0.650000	0.86243	GAA		0.383	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3		NM_018233		41	63	0	0	0	0.00361	0	41	63		
SLC9A5	6553	broad.mit.edu	37	16	67298323	67298323	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:67298323C>T	ENST00000299798.11	+	13	1976	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	637					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGGAGGTCTTCCAGCAGAACA	0.587																																						uc002esm.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1909-1911)TTC>TTT		solute carrier family 9 (sodium/hydrogen							30.0	37.0	35.0					16																	67298323		2173	4279	6452	SO:0001819	synonymous_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67298323C>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1911C>T	16.37:g.67298323C>T						SLC9A5_uc010cee.2_Silent_p.F342F|SLC9A5_uc010vji.1_Silent_p.F141F	p.F637F	NM_004594	NP_004585	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	13	1974	+		Ovarian(137;0.0563)	637					A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	37	c.1911C>T	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	9.964	1.223707	0.22457	.	.	ENSG00000135740	ENST00000360183	.	.	.	5.33	2.27	0.28462	.	.	.	.	.	T	0.57621	0.2066	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52139	-0.8615	4	.	.	.	.	8.7007	0.34323	0.0:0.6876:0.0:0.3124	.	.	.	.	F	151	.	.	S	+	2	0	SLC9A5	65855824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.602000	0.46257	0.741000	0.32674	0.561000	0.74099	TCC		0.587	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1				8	20	0	0	0	0.006214	0	8	20		
CTCF	10664	broad.mit.edu	37	16	67654676	67654676	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:67654676G>A	ENST00000264010.4	+	6	1607	c.1163G>A	c.(1162-1164)aGc>aAc	p.S388N	CTCF_ENST00000401394.1_Missense_Mutation_p.S60N	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	388					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGTTATGCCAGCAGGGACACA	0.443																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.2		NaN																	0				ovary(1)	1						c.(1162-1164)AGC>AAC		CCCTC-binding factor							151.0	112.0	125.0					16																	67654676		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67654676G>A	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1163G>A	16.37:g.67654676G>A	ENSP00000264010:p.Ser388Asn					CTCF_uc010cek.2_Missense_Mutation_p.S60N	p.S388N	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	6	1453	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	388			C2H2-type 5.		B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1163G>A	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	36	5.649479	0.96714	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.60424	2.44;0.19	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.74397	0.3711	L	0.55481	1.735	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	T	0.72827	-0.4175	10	0.59425	D	0.04	-2.4225	20.6208	0.99490	0.0:0.0:1.0:0.0	.	388	P49711	CTCF_HUMAN	N	388;60	ENSP00000264010:S388N;ENSP00000384707:S60N	ENSP00000264010:S388N	S	+	2	0	CTCF	66212177	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	AGC		0.443	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2		NM_006565		22	52	0	0	0	0.001523	0	22	52		
ACD	65057	broad.mit.edu	37	16	67692069	67692069	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:67692069C>T	ENST00000393919.4	-	10	1548	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q	ACD_ENST00000219251.8_Silent_p.Q425Q|PARD6A_ENST00000219255.3_5'Flank|PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000602551.1_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	428	Ser-rich.				intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GAGTGCAGCTCTGGAGTGGGG	0.642																																						uc002etq.3		NaN																	0				pancreas(1)	1						c.(1282-1284)CAG>CAA		adrenocortical dysplasia homolog isoform 1							52.0	58.0	56.0					16																	67692069		2198	4300	6498	SO:0001819	synonymous_variant	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67692069C>T	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.1284G>A	16.37:g.67692069C>T						ACD_uc002etp.3_Silent_p.Q425Q|ACD_uc002etr.3_Silent_p.Q425Q|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank	p.Q428Q	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	10	1621	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	428			Ser-rich.		Q562H5|Q9H8F9	Silent	SNP	ENST00000393919.4	37	c.1284G>A	CCDS42181.1																																																																																				0.642	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1		NM_022914		13	29	0	0	0	0.00499	0	13	29		
SPIRE2	84501	broad.mit.edu	37	16	89895104	89895104	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:89895104G>A	ENST00000378247.3	+	1	189	c.146G>A	c.(145-147)cGc>cAc	p.R49H	SPIRE2_ENST00000393062.2_Missense_Mutation_p.R49H|SPIRE2_ENST00000564878.1_Intron|SPIRE2_ENST00000563972.1_Missense_Mutation_p.R49H	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	49	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CAGGGCTGCCGCGGGCTGCGG	0.776																																						uc002foz.1		NaN																	0				central_nervous_system(1)	1						c.(145-147)CGC>CAC		spire homolog 2							3.0	4.0	4.0					16																	89895104		1607	3283	4890	SO:0001583	missense	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89895104G>A	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.146G>A	16.37:g.89895104G>A	ENSP00000367494:p.Arg49His					SPIRE2_uc010civ.1_5'UTR|SPIRE2_uc010ciw.1_Missense_Mutation_p.R49H	p.R49H	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	1	198	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	49			KIND.		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	c.146G>A	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234308	0.79688	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.29655	1.56;1.56	2.86	1.88	0.25563	KIND (2);	0.648012	0.13909	U	0.354383	T	0.30572	0.0769	L	0.56769	1.78	0.30491	N	0.771353	D;D	0.64830	0.988;0.994	B;P	0.45474	0.386;0.482	T	0.27502	-1.0072	10	0.45353	T	0.12	.	7.4344	0.27148	0.1402:0.0:0.8598:0.0	.	49;49	Q8WWL2-2;Q8WWL2	.;SPIR2_HUMAN	H	49	ENSP00000367494:R49H;ENSP00000376782:R49H	ENSP00000367494:R49H	R	+	2	0	SPIRE2	88422605	1.000000	0.71417	0.968000	0.41197	0.856000	0.48823	3.892000	0.56235	0.405000	0.25532	0.174000	0.16983	CGC		0.776	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1		XM_047462		4	8	0	0	0	0.000602	0	4	8		
ITGAE	3682	broad.mit.edu	37	17	3661136	3661136	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:3661136G>C	ENST00000263087.4	-	9	982	c.884C>G	c.(883-885)tCa>tGa	p.S295*		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	295	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCCGTGGCTTGAGGTGAAGAT	0.522																																					NSCLC(182;635 2928 8995 38788)	uc002fwo.3		NaN																	0				large_intestine(2)|breast(1)|pancreas(1)	4						c.(883-885)TCA>TGA		integrin, alpha E precursor							172.0	160.0	164.0					17																	3661136		2203	4300	6503	SO:0001587	stop_gained	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3661136G>C	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.884C>G	17.37:g.3661136G>C	ENSP00000263087:p.Ser295*						p.S295*	NM_002208	NP_002199	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	9	983	-			295			VWFA.|Extracellular (Potential).		Q17RS6|Q9NZU9	Nonsense_Mutation	SNP	ENST00000263087.4	37	c.884C>G	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092421	0.76756	.	.	ENSG00000083457	ENST00000263087	.	.	.	5.56	3.53	0.40419	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	6.3549	0.21397	0.0845:0.0:0.5867:0.3288	.	.	.	.	X	295	.	ENSP00000263087:S295X	S	-	2	0	ITGAE	3607885	0.082000	0.21442	0.151000	0.22473	0.174000	0.22865	1.685000	0.37659	1.462000	0.47948	0.514000	0.50259	TCA		0.522	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1		NM_002208		44	56	0	0	0	0.002522	0	44	56		
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)GGC>AGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S	p.G245S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	927	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		25	23	0	0	0	0.007291	0	25	23		
MAP2K3	5606	broad.mit.edu	37	17	21204234	21204234	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:21204234G>A	ENST00000342679.4	+	5	577	c.328G>A	c.(328-330)Gac>Aac	p.D110N	MAP2K3_ENST00000361818.5_Missense_Mutation_p.D81N|MAP2K3_ENST00000316920.6_Missense_Mutation_p.D81N	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	110	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCTGCTCATGGACCTGGACAT	0.587																																						uc002gys.2		NaN																	0					0						c.(328-330)GAC>AAC		mitogen-activated protein kinase kinase 3							154.0	123.0	133.0					17																	21204234		2203	4300	6503	SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21204234G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.328G>A	17.37:g.21204234G>A	ENSP00000345083:p.Asp110Asn					MAP2K3_uc002gyt.2_Missense_Mutation_p.D81N|MAP2K3_uc002gyu.2_Missense_Mutation_p.D81N	p.D110N	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	5	593	+			110			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.328G>A	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323530	0.60634	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000526076;ENST00000316920	T;T;T	0.65364	1.01;1.01;-0.15	5.08	4.09	0.47781	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.67211	0.2869	L	0.27944	0.81	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.71672	-0.4522	10	0.87932	D	0	-39.5167	14.8149	0.70028	0.0:0.0:0.8549:0.1451	.	110	P46734	MP2K3_HUMAN	N	110;81;81;81;114	ENSP00000345083:D110N;ENSP00000355081:D81N;ENSP00000434068:D81N	ENSP00000319139:D114N	D	+	1	0	MAP2K3	21144827	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.850000	0.86915	1.109000	0.41680	0.655000	0.94253	GAC		0.587	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2		NM_145109		11	80	0	0	0	0.008291	0	11	80		
CSF3	1440	broad.mit.edu	37	17	38173107	38173107	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:38173107C>T	ENST00000225474.2	+	5	550	c.519C>T	c.(517-519)ttC>ttT	p.F173F	CSF3_ENST00000394149.3_Silent_p.F170F|CSF3_ENST00000394148.3_Silent_p.F137F|RP11-387H17.6_ENST00000583462.1_lincRNA|CSF3_ENST00000577675.1_Silent_p.F130F|CSF3_ENST00000331769.2_Silent_p.F166F			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	173					cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|granulocyte differentiation (GO:0030851)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of neuron death (GO:1901215)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|granulocyte colony-stimulating factor receptor binding (GO:0005130)			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)				TGCCGGCCTTCGCCTCTGCTT	0.647																																						uc002htp.2		NaN																	0				ovary(1)	1						c.(517-519)TTC>TTT		colony stimulating factor 3 isoform a precursor	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						52.0	50.0	50.0					17																	38173107		2203	4300	6503	SO:0001819	synonymous_variant	1440				cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity	g.chr17:38173107C>T		CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	17q11.2-q12	2014-01-30			ENSG00000108342	ENSG00000108342		"""Endogenous ligands"""	2438	protein-coding gene	gene with protein product	"""granulocyte colony stimulating factor"", ""pluripoietin"", ""filgrastim"", ""lenograstim"""	138970	"""chromosome 17 open reading frame 33"""	GCSF, G-CSF, C17orf33		3499671, 3501046	Standard	NM_000759		Approved	MGC45931	uc002htp.3	P09919	OTTHUMG00000133247	ENST00000225474.2:c.519C>T	17.37:g.38173107C>T						CSF3_uc002hto.2_Silent_p.F170F|CSF3_uc002htq.2_Silent_p.F166F|CSF3_uc010wep.1_Silent_p.F130F	p.F173F	NM_000759	NP_000750	P09919	CSF3_HUMAN			5	559	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	173					A8MXR7	Silent	SNP	ENST00000225474.2	37	c.519C>T	CCDS11357.1																																																																																				0.647	CSF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256988.2		NM_172220		25	45	0	0	0	0.004656	0	25	45		
NR1D1	9572	broad.mit.edu	37	17	38253437	38253437	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:38253437G>C	ENST00000246672.3	-	2	881	c.251C>G	c.(250-252)tCa>tGa	p.S84*		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	84	Crucial for activation of GJA1. {ECO:0000250}.|Modulating.|Poly-Ser.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					cgaggaagatgaggaagaagg	0.607																																						uc002htz.1		NaN																	0				skin(1)	1						c.(250-252)TCA>TGA		nuclear receptor subfamily 1, group D, member 1							67.0	67.0	67.0					17																	38253437		2203	4300	6503	SO:0001587	stop_gained	9572				cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38253437G>C	X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.251C>G	17.37:g.38253437G>C	ENSP00000246672:p.Ser84*					NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_5'Flank	p.S84*	NM_021724	NP_068370	P20393	NR1D1_HUMAN			2	877	-	Colorectal(19;0.000442)		84			Poly-Ser.		Q0P5Z4|Q15304	Nonsense_Mutation	SNP	ENST00000246672.3	37	c.251C>G	CCDS11361.1	.	.	.	.	.	.	.	.	.	.	G	38	6.709285	0.97780	.	.	ENSG00000126368	ENST00000246672	.	.	.	4.64	4.64	0.57946	.	0.681246	0.12844	N	0.434523	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	16.4485	0.83972	0.0:0.0:1.0:0.0	.	.	.	.	X	84	.	ENSP00000246672:S84X	S	-	2	0	NR1D1	35506963	0.352000	0.24895	0.182000	0.23118	0.396000	0.30629	2.967000	0.49216	2.409000	0.81822	0.462000	0.41574	TCA		0.607	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1				15	38	0	0	0	0.00245	0	15	38		
TNS4	84951	broad.mit.edu	37	17	38645050	38645050	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:38645050G>C	ENST00000254051.6	-	3	769	c.611C>G	c.(610-612)tCt>tGt	p.S204C		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	204	Ser-rich.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CTGGTTCCCAGAGAAGATGAG	0.647																																						uc010cxb.2		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(610-612)TCT>TGT		tensin 4 precursor							35.0	43.0	40.0					17																	38645050		2186	4287	6473	SO:0001583	missense	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38645050G>C	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.611C>G	17.37:g.38645050G>C	ENSP00000254051:p.Ser204Cys						p.S204C	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	775	-		Breast(137;0.000496)	204			Ser-rich.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	c.611C>G	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534969	0.64972	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.21031	2.03	5.77	4.8	0.61643	.	0.561787	0.13811	N	0.361112	T	0.32255	0.0823	L	0.34521	1.04	0.26677	N	0.971612	D	0.89917	1.0	D	0.68192	0.956	T	0.10019	-1.0648	10	0.66056	D	0.02	-17.0925	8.727	0.34476	0.1704:0.0:0.8296:0.0	.	204	Q8IZW8	TENS4_HUMAN	C	204	ENSP00000254051:S204C	ENSP00000254051:S204C	S	-	2	0	TNS4	35898576	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	3.612000	0.54142	1.438000	0.47492	0.563000	0.77884	TCT		0.647	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3		NM_032865		22	44	0	0	0	0.00278	0	22	44		
KRTAP9-8	83901	broad.mit.edu	37	17	39394660	39394660	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:39394660G>C	ENST00000254072.6	+	1	364	c.357G>C	c.(355-357)caG>caC	p.Q119H		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	119	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCCTAAACCAGAGCTGTGGCT	0.622																																						uc002hwh.3		NaN																	0				ovary(1)	1						c.(355-357)CAG>CAC		keratin associated protein 9.8							76.0	95.0	89.0					17																	39394660		2104	4300	6404	SO:0001583	missense	83901					keratin filament		g.chr17:39394660G>C	AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.357G>C	17.37:g.39394660G>C	ENSP00000254072:p.Gln119His					KRTAP9-9_uc010wfq.1_Intron	p.Q119H	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	391	+		Breast(137;0.000496)	119			15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].			Missense_Mutation	SNP	ENST00000254072.6	37	c.357G>C	CCDS42334.1	.	.	.	.	.	.	.	.	.	.	.	9.714	1.157867	0.21454	.	.	ENSG00000187272	ENST00000254072	T	0.01246	5.11	1.44	-0.796	0.10912	.	.	.	.	.	T	0.02688	0.0081	L	0.34521	1.04	0.09310	N	1	D	0.65815	0.995	D	0.66084	0.941	T	0.47005	-0.9150	9	0.59425	D	0.04	.	1.9219	0.03309	0.3616:0.0:0.3713:0.267	.	119	Q9BYQ0	KRA98_HUMAN	H	119	ENSP00000254072:Q119H	ENSP00000254072:Q119H	Q	+	3	2	KRTAP9-8	36648186	0.491000	0.26019	0.040000	0.18447	0.071000	0.16799	0.923000	0.28757	-0.203000	0.10251	0.508000	0.49915	CAG		0.622	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1				30	66	0	0	0	0.005524	0	30	66		
BRIP1	83990	broad.mit.edu	37	17	59763374	59763374	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:59763374C>G	ENST00000259008.2	-	19	2995	c.2728G>C	c.(2728-2730)Gaa>Caa	p.E910Q	BRIP1_ENST00000577598.1_Missense_Mutation_p.E910Q	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	910	Interaction with BRCA1.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GAGGTCACTTCAAGTGTAGAC	0.368			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1		NaN	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			0				ovary(1)	1						c.(2728-2730)GAA>CAA	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							182.0	181.0	181.0					17																	59763374		2203	4300	6503	SO:0001583	missense	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59763374C>G	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2728G>C	17.37:g.59763374C>G	ENSP00000259008:p.Glu910Gln					BRIP1_uc002izl.1_Missense_Mutation_p.E291Q	p.E910Q	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			19	2869	-			910			Interaction with BRCA1.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.2728G>C	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	4.519	0.096318	0.08681	.	.	ENSG00000136492	ENST00000259008	T	0.75154	-0.91	5.81	2.67	0.31697	.	0.569010	0.16643	N	0.205562	T	0.64832	0.2634	L	0.50333	1.59	0.09310	N	1	B;B	0.19817	0.009;0.039	B;B	0.14023	0.007;0.01	T	0.50874	-0.8776	9	.	.	.	-2.5879	8.7732	0.34745	0.0:0.6368:0.2863:0.0769	.	910;910	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	Q	910	ENSP00000259008:E910Q	.	E	-	1	0	BRIP1	57118156	0.003000	0.15002	0.004000	0.12327	0.147000	0.21601	-0.024000	0.12435	0.347000	0.23924	0.655000	0.94253	GAA		0.368	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1		NM_032043		83	101	0	0	0	0.00361	0	83	101		
MED13	9969	broad.mit.edu	37	17	60111268	60111268	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:60111268A>T	ENST00000397786.2	-	5	770	c.694T>A	c.(694-696)Tta>Ata	p.L232I	MED13_ENST00000580896.1_5'Flank|Y_RNA_ENST00000363972.1_RNA	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	232					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCACCAATTAATTTTTTTGTA	0.383																																						uc002izo.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(694-696)TTA>ATA		mediator complex subunit 13							118.0	104.0	109.0					17																	60111268		1845	4094	5939	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60111268A>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.694T>A	17.37:g.60111268A>T	ENSP00000380888:p.Leu232Ile						p.L232I	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			5	771	-			232					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.694T>A	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	A	19.32	3.805172	0.70682	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.75938	-0.98	5.37	0.583	0.17417	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.64402	D	0.000005	T	0.80944	0.4721	M	0.62266	1.93	0.50813	D	0.999891	D	0.76494	0.999	D	0.80764	0.994	T	0.76487	-0.2941	10	0.40728	T	0.16	0.364	10.815	0.46571	0.4279:0.0:0.5721:0.0	.	232	Q9UHV7	MED13_HUMAN	I	232;231	ENSP00000380888:L232I	ENSP00000262436:L231I	L	-	1	2	MED13	57466050	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	3.499000	0.53310	-0.198000	0.10333	0.460000	0.39030	TTA		0.383	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1		NM_005121		17	49	0	0	0	0.00499	0	17	49		
ABCA9	10350	broad.mit.edu	37	17	66988371	66988371	+	Nonsense_Mutation	SNP	G	G	A	rs377378801		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:66988371G>A	ENST00000340001.4	-	28	3872	c.3661C>T	c.(3661-3663)Cga>Tga	p.R1221*	ABCA9_ENST00000370732.2_Nonsense_Mutation_p.R1221*|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.R1183*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1221					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCTAGGCATCGCAGAATGAAA	0.318																																						uc002jhu.2		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(3661-3663)CGA>TGA		ATP-binding cassette, sub-family A, member 9							61.0	54.0	56.0					17																	66988371		2203	4299	6502	SO:0001587	stop_gained	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66988371G>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3661C>T	17.37:g.66988371G>A	ENSP00000342216:p.Arg1221*					ABCA9_uc010dez.2_Nonsense_Mutation_p.R1183*	p.R1221*	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			28	3804	-	Breast(10;1.47e-12)		1221					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Nonsense_Mutation	SNP	ENST00000340001.4	37	c.3661C>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	40	8.427687	0.98806	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	.	.	.	5.26	4.29	0.51040	.	0.000000	0.39759	N	0.001267	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1436	0.59448	0.0775:0.0:0.9225:0.0	.	.	.	.	X	1221;1166;1221	.	ENSP00000342216:R1221X	R	-	1	2	ABCA9	64499966	0.019000	0.18553	0.955000	0.39395	0.130000	0.20726	0.447000	0.21710	1.231000	0.43661	-0.216000	0.12614	CGA		0.318	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2		NM_172386		6	20	0	0	0	0.001168	0	6	20		
OTOP3	347741	broad.mit.edu	37	17	72937560	72937560	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:72937560G>A	ENST00000328801.4	+	2	146	c.146G>A	c.(145-147)cGa>cAa	p.R49Q		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	49						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AAGGAGAACCGAGTGGATGTG	0.647																																						uc010wrr.1		NaN																	0				ovary(1)	1						c.(145-147)CGA>CAA		otopetrin 3							17.0	23.0	21.0					17																	72937560		2200	4290	6490	SO:0001583	missense	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72937560G>A	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.146G>A	17.37:g.72937560G>A	ENSP00000328090:p.Arg49Gln					OTOP3_uc010wrq.1_Missense_Mutation_p.R31Q	p.R49Q	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN			2	146	+	all_lung(278;0.151)|Lung NSC(278;0.185)		49						Missense_Mutation	SNP	ENST00000328801.4	37	c.146G>A	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	G	0.594	-0.831896	0.02713	.	.	ENSG00000182938	ENST00000328801	T	0.08193	3.12	4.65	-0.963	0.10330	.	1.178460	0.06680	N	0.767850	T	0.02012	0.0063	N	0.00538	-1.39	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45673	-0.9245	10	0.13108	T	0.6	-9.6054	4.9354	0.13937	0.3388:0.3126:0.3485:0.0	.	49	Q7RTS5	OTOP3_HUMAN	Q	49	ENSP00000328090:R49Q	ENSP00000328090:R49Q	R	+	2	0	OTOP3	70449155	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.591000	0.05753	-0.137000	0.11455	-1.373000	0.01185	CGA		0.647	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1		NM_178233		4	14	0	0	0	0.000602	0	4	14		
MIF4GD	57409	broad.mit.edu	37	17	73263627	73263627	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:73263627C>G	ENST00000325102.8	-	5	557	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	MIF4GD_ENST00000579119.1_Missense_Mutation_p.E145Q|MIF4GD_ENST00000578305.1_3'UTR|MIF4GD_ENST00000580571.1_Missense_Mutation_p.E93Q|MIF4GD_ENST00000579297.1_Missense_Mutation_p.E186Q|MIF4GD_ENST00000245551.5_Missense_Mutation_p.E179Q|MIF4GD_ENST00000577542.1_Missense_Mutation_p.E186Q	NM_001242501.1	NP_001229430.1	A9UHW6	MI4GD_HUMAN	MIF4G domain containing	145	MIF4G.				regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			ACCTCCTCCTCCTTGCTCAAA	0.612																																						uc002jnr.2		NaN																	0				ovary(1)	1						c.(433-435)GAG>CAG		RecName: Full=MIF4G domain-containing protein; AltName: Full=SLBP-interacting protein 1;          Short=hSLIP1;							66.0	65.0	65.0					17																	73263627		2203	4300	6503	SO:0001583	missense	57409				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding	g.chr17:73263627C>G	CR605810	CCDS11719.1, CCDS56044.1, CCDS58598.1	17q25.1	2005-12-15		2005-12-15					24030	protein-coding gene	gene with protein product		612072		MIFD			Standard	NM_001242498		Approved	AD023, MGC45027	uc002jnq.3	A9UHW6		ENST00000325102.8:c.433G>C	17.37:g.73263627C>G	ENSP00000321625:p.Glu145Gln					MIF4GD_uc002jno.2_Missense_Mutation_p.E186Q|MIF4GD_uc002jnp.2_Missense_Mutation_p.E179Q|MIF4GD_uc002jnq.2_Missense_Mutation_p.E186Q	p.E145Q			A9UHW6	MI4GD_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		5	562	-	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		145			MIF4G.		B4DUM7|Q8N4Q5|Q9HBL5	Missense_Mutation	SNP	ENST00000325102.8	37	c.433G>C	CCDS56044.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510433	0.64522	.	.	ENSG00000125457	ENST00000245551;ENST00000325102	T;T	0.27890	1.64;1.64	5.89	5.89	0.94794	MIF4G-like, type 3 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	.	.	.	.	T	0.48059	0.1479	M	0.64567	1.98	0.80722	D	1	D;D;D	0.63046	0.992;0.982;0.97	P;P;P	0.53006	0.651;0.672;0.715	T	0.42932	-0.9422	9	0.66056	D	0.02	-14.881	20.2435	0.98387	0.0:1.0:0.0:0.0	.	145;179;186	A9UHW6;A9UHW6-2;B4DUM7	MI4GD_HUMAN;.;.	Q	179;145	ENSP00000245551:E179Q;ENSP00000321625:E145Q	ENSP00000245551:E179Q	E	-	1	0	MIF4GD	70775222	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.211000	0.77933	2.795000	0.96236	0.655000	0.94253	GAG		0.612	MIF4GD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446671.1		NM_020679		19	62	0	0	0	0.008871	0	19	62		
TRIM65	201292	broad.mit.edu	37	17	73887139	73887139	+	Silent	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:73887139G>C	ENST00000269383.3	-	6	1340	c.1275C>G	c.(1273-1275)ctC>ctG	p.L425L		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	425	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGGACGCAGAGCCCCCAGG	0.687																																						uc002jpx.2		NaN																	0					0						c.(1273-1275)CTC>CTG		tripartite motif-containing 65							22.0	24.0	23.0					17																	73887139		2202	4298	6500	SO:0001819	synonymous_variant	201292					intracellular	zinc ion binding	g.chr17:73887139G>C	BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	27316	protein-coding gene	gene with protein product			"""tripartite motif-containing 65"""			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.1275C>G	17.37:g.73887139G>C							p.L425L	NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1311	-			425			B30.2/SPRY.		Q4G0F0|Q6DKJ6|Q9BRP6	Silent	SNP	ENST00000269383.3	37	c.1275C>G	CCDS11732.1	.	.	.	.	.	.	.	.	.	.	G	1.416	-0.574262	0.03882	.	.	ENSG00000141569	ENST00000543309	.	.	.	5.35	-1.98	0.07480	.	.	.	.	.	T	0.53818	0.1820	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51340	-0.8718	4	.	.	.	.	8.9095	0.35543	0.2226:0.5122:0.2653:0.0	.	.	.	.	C	277	.	.	S	-	2	0	TRIM65	71398734	0.000000	0.05858	0.892000	0.35008	0.280000	0.26924	-0.476000	0.06591	0.014000	0.14944	-0.215000	0.12644	TCT		0.687	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2		NM_173547		9	19	0	0	0	0.004482	0	9	19		
TMC6	11322	broad.mit.edu	37	17	76113638	76113638	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:76113638C>T	ENST00000590602.1	-	17	2268	c.2109G>A	c.(2107-2109)gcG>gcA	p.A703A	TMC6_ENST00000392467.3_Silent_p.A703A|TMC6_ENST00000591436.1_Silent_p.A282A|TMC6_ENST00000322914.3_Silent_p.A703A|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Silent_p.A282A|TMC6_ENST00000592076.1_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	703					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGGGGCCTGCCGCCTCCAGGT	0.667																																						uc002juj.1		NaN																	0					0						c.(2107-2109)GCG>GCA		transmembrane channel-like 6							12.0	14.0	13.0					17																	76113638		2186	4283	6469	SO:0001819	synonymous_variant	11322	Epidermodysplasia_Verruciformis_Familial_Clustering_of				endoplasmic reticulum membrane|integral to membrane		g.chr17:76113638C>T	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.2109G>A	17.37:g.76113638C>T						TMC6_uc002jui.1_Silent_p.A282A|TMC6_uc010dhf.1_Silent_p.A536A|TMC6_uc002juk.2_Silent_p.A703A|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.A703A	p.A703A	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		16	2235	-			703			Cytoplasmic (Potential).		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	ENST00000590602.1	37	c.2109G>A	CCDS32748.1																																																																																				0.667	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1				4	9	0	0	0	0.000602	0	4	9		
ACTG1	71	broad.mit.edu	37	17	79479123	79479123	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:79479123C>T	ENST00000575842.1	-	2	595	c.169G>A	c.(169-171)Gag>Aag	p.E57K	ACTG1_ENST00000575087.1_Missense_Mutation_p.E57K|ACTG1_ENST00000573283.1_Missense_Mutation_p.E57K|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000331925.2_Missense_Mutation_p.E57K|AC139149.1_ENST00000584254.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	57					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CTCTGGGCCTCGTCGCCCACG	0.642																																						uc002kaj.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(169-171)GAG>AAG		actin, gamma 1 propeptide							67.0	66.0	66.0					17																	79479123		2203	4300	6503	SO:0001583	missense	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79479123C>T		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.169G>A	17.37:g.79479123C>T	ENSP00000458162:p.Glu57Lys					ACTG1_uc002kah.1_5'Flank|ACTG1_uc002kai.1_Missense_Mutation_p.E14K|ACTG1_uc002kak.1_Missense_Mutation_p.E57K|ACTG1_uc010wun.1_Missense_Mutation_p.E57K|ACTG1_uc002kal.1_Missense_Mutation_p.E57K|ACTG1_uc002kag.2_RNA	p.E57K	NM_001614	NP_001605	P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		2	194	-	all_neural(118;0.0878)|Melanoma(429;0.242)		57					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	c.169G>A	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793586	0.50102	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.97850	-4.57	3.7	3.7	0.42460	Actin, conserved site (1);	0.000000	0.64402	U	0.000002	D	0.97056	0.9038	M	0.84683	2.71	0.53005	D	0.999963	B	0.02656	0.0	B	0.06405	0.002	D	0.96939	0.9686	10	0.87932	D	0	.	14.3986	0.67027	0.0:1.0:0.0:0.0	.	57	P63261	ACTG_HUMAN	K	57	ENSP00000331514:E57K	ENSP00000331514:E57K	E	-	1	0	ACTG1	77093718	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.227000	0.78070	1.902000	0.55061	0.563000	0.77884	GAG		0.642	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2		NM_001614		50	27	0	0	0	0.00361	0	50	27		
ZNF750	79755	broad.mit.edu	37	17	80788479	80788479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:80788479G>A	ENST00000269394.3	-	3	2544	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Nonsense_Mutation_p.R172*|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	571					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTCGTGGTCGACCGGGGAAG	0.622																																						uc002kga.2		NaN																	0				central_nervous_system(1)	1						c.(1711-1713)CGA>TGA		zinc finger protein 750							60.0	64.0	63.0					17																	80788479		2203	4300	6503	SO:0001587	stop_gained	79755					intracellular	zinc ion binding	g.chr17:80788479G>A	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1711C>T	17.37:g.80788479G>A	ENSP00000269394:p.Arg571*					TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.R571*	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		3	2022	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	571					Q9H899	Nonsense_Mutation	SNP	ENST00000269394.3	37	c.1711C>T	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832473	0.91036	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	.	.	.	4.49	3.51	0.40186	.	0.572801	0.16526	N	0.210561	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.1846	9.6518	0.39902	0.098:0.0:0.902:0.0	.	.	.	.	X	571;164	.	.	R	-	1	2	ZNF750	78381768	0.455000	0.25736	0.001000	0.08648	0.002000	0.02628	1.085000	0.30840	0.878000	0.35920	0.591000	0.81541	CGA		0.622	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2		NM_024702		23	36	0	0	0	0.008361	0	23	36		
LAMA3	3909	broad.mit.edu	37	18	21508633	21508633	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr18:21508633C>T	ENST00000313654.9	+	64	8581	c.8340C>T	c.(8338-8340)ttC>ttT	p.F2780F	LAMA3_ENST00000269217.6_Silent_p.F1171F|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Silent_p.F2724F|LAMA3_ENST00000587184.1_Silent_p.F1115F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2780	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AATTGAGTTTCACTGATTTGG	0.423																																						uc002kuq.2		NaN																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(8338-8340)TTC>TTT		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						210.0	177.0	188.0					18																	21508633		2203	4300	6503	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21508633C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8340C>T	18.37:g.21508633C>T						LAMA3_uc002kur.2_Silent_p.F2724F|LAMA3_uc002kus.3_Silent_p.F1171F|LAMA3_uc002kut.3_Silent_p.F1115F	p.F2780F	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			64	8426	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2780			Laminin G-like 3.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.8340C>T	CCDS42419.1																																																																																				0.423	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129		50	72	0	0	0	0.00361	0	50	72		
CD226	10666	broad.mit.edu	37	18	67563226	67563226	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr18:67563226C>G	ENST00000280200.4	-	4	706	c.438G>C	c.(436-438)aaG>aaC	p.K146N	CD226_ENST00000581982.1_5'UTR|CD226_ENST00000582621.1_Missense_Mutation_p.K146N|CD226_ENST00000577287.1_5'UTR	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	146	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)	p.K146N(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GTGTGACATTCTTTCCAGGTT	0.458																																					NSCLC(184;838 2130 8673 21498 50749)	uc010dqo.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(436-438)AAG>AAC		CD226 molecule precursor							101.0	83.0	89.0					18																	67563226		2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67563226C>G	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.438G>C	18.37:g.67563226C>G	ENSP00000280200:p.Lys146Asn					CD226_uc002lkm.3_Missense_Mutation_p.K146N	p.K146N	NM_006566	NP_006557	Q15762	CD226_HUMAN			3	885	-		Esophageal squamous(42;0.129)	146			Ig-like C2-type 2.|Extracellular (Potential).		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.438G>C	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	C	1.600	-0.526778	0.04141	.	.	ENSG00000150637	ENST00000280200	T	0.21734	1.99	4.86	-0.744	0.11101	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.846872	0.11210	N	0.587796	T	0.14098	0.0341	L	0.48362	1.52	0.18873	N	0.999983	B	0.16396	0.017	B	0.14578	0.011	T	0.31138	-0.9954	10	0.23891	T	0.37	.	3.1072	0.06346	0.1749:0.201:0.0:0.6241	.	146	Q15762	CD226_HUMAN	N	146	ENSP00000280200:K146N	ENSP00000280200:K146N	K	-	3	2	CD226	65714206	0.025000	0.19082	0.197000	0.23402	0.005000	0.04900	-0.069000	0.11542	0.386000	0.24997	-0.451000	0.05528	AAG		0.458	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3		NM_006566		18	32	0	0	0	0.001882	0	18	32		
ADNP2	22850	broad.mit.edu	37	18	77894028	77894028	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr18:77894028G>A	ENST00000262198.4	+	4	1187	c.732G>A	c.(730-732)gaG>gaA	p.E244E		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	244					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GAGATTTGGAGAATAAGCTTA	0.423																																						uc002lnw.2		NaN																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(730-732)GAG>GAA		ADNP homeobox 2							80.0	81.0	80.0					18																	77894028		2203	4300	6503	SO:0001819	synonymous_variant	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77894028G>A	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.732G>A	18.37:g.77894028G>A							p.E244E	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	1187	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	244					A8K951|O94943|Q9H9P3	Silent	SNP	ENST00000262198.4	37	c.732G>A	CCDS32853.1																																																																																				0.423	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1		NM_014913		14	40	0	0	0	0.001855	0	14	40		
APC2	10297	broad.mit.edu	37	19	1456894	1456894	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:1456894G>A	ENST00000535453.1	+	8	2572	c.859G>A	c.(859-861)Gac>Aac	p.D287N	APC2_ENST00000233607.2_Missense_Mutation_p.D287N|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGACGCGCGACCAGGAGGA	0.677																																						uc002lsr.1		NaN																	0				breast(3)|pancreas(1)	4						c.(859-861)GAC>AAC		adenomatosis polyposis coli 2																																				SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1456894G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.859G>A	19.37:g.1456894G>A	ENSP00000442954:p.Asp287Asn					APC2_uc002lss.1_5'UTR|APC2_uc002lst.1_Missense_Mutation_p.D287N|APC2_uc002lsu.1_Missense_Mutation_p.D286N	p.D287N	NM_005883	NP_005874	O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1067	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	287					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.859G>A	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925076	0.73213	.	.	ENSG00000115266	ENST00000233607;ENST00000535453	D;D	0.95001	-3.58;-3.58	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.95947	0.8680	L	0.49350	1.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.96345	0.9254	10	0.87932	D	0	-26.8738	14.6515	0.68800	0.0:0.0:1.0:0.0	.	286;287	O95996-3;O95996	.;APC2_HUMAN	N	287	ENSP00000233607:D287N;ENSP00000442954:D287N	ENSP00000233607:D287N	D	+	1	0	APC2	1407894	1.000000	0.71417	0.933000	0.37362	0.120000	0.20174	9.431000	0.97494	2.317000	0.78254	0.561000	0.74099	GAC		0.677	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2		NM_005883		5	1	0	0	0	0.000602	0	5	1		
IZUMO4	113177	broad.mit.edu	37	19	2097472	2097472	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:2097472C>T	ENST00000395301.3	+	3	412	c.348C>T	c.(346-348)ctC>ctT	p.L116L	IZUMO4_ENST00000395307.2_Silent_p.L116L|IZUMO4_ENST00000395296.1_Silent_p.L116L|IZUMO4_ENST00000588003.1_3'UTR|MOB3A_ENST00000357066.3_5'Flank	NM_001039846.1	NP_001034935.1	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	116						extracellular region (GO:0005576)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						AGGTGCACCTCATCCAGAACG	0.607											OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002luw.1		NaN																	0					0						c.(346-348)CTC>CTT		hypothetical protein LOC113177 isoform 3							71.0	64.0	66.0					19																	2097472		2203	4300	6503	SO:0001819	synonymous_variant	113177					extracellular region		g.chr19:2097472C>T	BC014609	CCDS35499.1, CCDS42458.1	19p13.3	2014-02-17	2010-07-29	2010-07-29	ENSG00000099840	ENSG00000099840		"""-"""	26950	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 36"""	C19orf36		12975309, 19658160, 22957301	Standard	XM_005259480		Approved		uc002luw.1	Q1ZYL8	OTTHUMG00000141290	ENST00000395301.3:c.348C>T	19.37:g.2097472C>T			OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	C19orf36_uc002lux.1_Silent_p.L116L|C19orf36_uc010xgw.1_Silent_p.L116L	p.L116L	NM_001039846	NP_001034935	Q1ZYL8	IZUM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	425	+		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	116					A7RA93|A7RA94|Q6UXA2|Q96FT6|Q96L02	Silent	SNP	ENST00000395301.3	37	c.348C>T	CCDS42458.1																																																																																				0.607	IZUMO4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280536.3		NM_052878		15	42	0	0	0	0.004007	0	15	42		
UHRF1	29128	broad.mit.edu	37	19	4941939	4941939	+	RNA	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:4941939G>C	ENST00000592666.1	+	0	1645							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CAGCGAGGACGAGTGGTGAGT	0.677																																						uc002mbo.2		NaN																	0				lung(2)	2						c.(1069-1071)GAG>CAG		ubiquitin-like with PHD and ring finger domains							16.0	17.0	17.0					19																	4941939		2004	4152	6156			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4941939G>C	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4941939G>C						UHRF1_uc010xik.1_RNA|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.E370Q	p.E357Q	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	7	1237	+			357			PHD-type.		A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Missense_Mutation	SNP	ENST00000592666.1	37	c.1069G>C		.	.	.	.	.	.	.	.	.	.	G	17.61	3.431872	0.62844	.	.	ENSG00000034063	ENST00000262952;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.35	4.35	0.52113	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.051847	0.85682	D	0.000000	T	0.73265	0.3565	L	0.56280	1.765	0.30045	N	0.812253	D;D	0.63880	0.977;0.993	P;D	0.64321	0.83;0.924	T	0.76165	-0.3059	8	0.44086	T	0.13	-21.5273	17.0562	0.86534	0.0:0.0:1.0:0.0	.	370;357	Q2HIX7;Q96T88	.;UHRF1_HUMAN	Q	357;357;357;370	.	ENSP00000262952:E357Q	E	+	1	0	UHRF1	4892939	1.000000	0.71417	0.924000	0.36721	0.076000	0.17211	9.335000	0.96500	2.242000	0.73789	0.561000	0.74099	GAG		0.677	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1		NM_001048201		2	4	0	0	0	0.004672	0	2	4		
HNRNPM	4670	broad.mit.edu	37	19	8533687	8533687	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:8533687C>T	ENST00000325495.4	+	9	905	c.864C>T	c.(862-864)ttC>ttT	p.F288F	HNRNPM_ENST00000348943.3_Silent_p.F249F	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	288					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AAGGAGATTTCTTCCCTCCTG	0.408																																						uc010dwe.2		NaN																	0					0						c.(862-864)TTC>TTT		heterogeneous nuclear ribonucleoprotein M							94.0	81.0	85.0					19																	8533687		2203	4300	6503	SO:0001819	synonymous_variant	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8533687C>T	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.864C>T	19.37:g.8533687C>T						HNRNPM_uc010dwc.1_Silent_p.F288F|HNRNPM_uc010xke.1_Silent_p.F249F|HNRNPM_uc010dwd.2_Silent_p.F249F|HNRNPM_uc002mka.2_Silent_p.F168F	p.F288F	NM_005968	NP_005959	P52272	HNRPM_HUMAN			9	944	+			288					Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Silent	SNP	ENST00000325495.4	37	c.864C>T	CCDS12203.1																																																																																				0.408	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1				24	47	0	0	0	0.00632	0	24	47		
COL5A3	50509	broad.mit.edu	37	19	10116382	10116382	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:10116382C>G	ENST00000264828.3	-	4	531	c.446G>C	c.(445-447)cGt>cCt	p.R149P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	149	Laminin G-like.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GACGGCCACACGGTGCCACCT	0.627																																						uc002mmq.1		NaN																	0				ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(445-447)CGT>CCT		collagen, type V, alpha 3 preproprotein							56.0	49.0	52.0					19																	10116382		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10116382C>G	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.446G>C	19.37:g.10116382C>G	ENSP00000264828:p.Arg149Pro						p.R149P	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		4	532	-			149			TSP N-terminal.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.446G>C	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013955	0.54468	.	.	ENSG00000080573	ENST00000264828	T	0.02421	4.3	4.59	4.59	0.56863	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.16896	0.0406	M	0.87097	2.86	0.44555	D	0.99751	D	0.76494	0.999	D	0.81914	0.995	T	0.00403	-1.1761	10	0.87932	D	0	.	12.8843	0.58034	0.0:1.0:0.0:0.0	.	149	P25940	CO5A3_HUMAN	P	149	ENSP00000264828:R149P	ENSP00000264828:R149P	R	-	2	0	COL5A3	9977382	0.999000	0.42202	0.982000	0.44146	0.334000	0.28698	4.528000	0.60580	2.128000	0.65567	0.313000	0.20887	CGT		0.627	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1		NM_015719		7	23	0	0	0	0.001984	0	7	23		
KEAP1	9817	broad.mit.edu	37	19	10602630	10602630	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:10602630C>T	ENST00000171111.5	-	3	1495	c.948G>A	c.(946-948)gtG>gtA	p.V316V	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Silent_p.V316V|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	316					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GGCAGGGCATCACCTGCGTGG	0.637																																						uc002moq.1		NaN																	0				lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(946-948)GTG>GTA		kelch-like ECH-associated protein 1							39.0	43.0	42.0					19																	10602630		2203	4300	6503	SO:0001819	synonymous_variant	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602630C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.948G>A	19.37:g.10602630C>T						KEAP1_uc002mop.1_Silent_p.V34V|KEAP1_uc002mor.1_Silent_p.V316V	p.V316V	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1104	-			316					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP	ENST00000171111.5	37	c.948G>A	CCDS12239.1																																																																																				0.637	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1		NM_012289		10	36	0	0	0	0.008291	0	10	36		
KEAP1	9817	broad.mit.edu	37	19	10602926	10602926	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:10602926C>G	ENST00000171111.5	-	3	1199	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Missense_Mutation_p.E218Q|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	218	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.E218Q(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	AAGAACTCCTCTTGCTTGGCC	0.607																																						uc002moq.1		NaN																	1	Substitution - Missense(1)	p.E218Q(1)	lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(652-654)GAG>CAG		kelch-like ECH-associated protein 1							53.0	41.0	45.0					19																	10602926		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602926C>G	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.652G>C	19.37:g.10602926C>G	ENSP00000171111:p.Glu218Gln					KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.E218Q	p.E218Q	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	808	-			218			BACK.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.652G>C	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097658	0.94197	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.71579	-0.58;-0.58	5.75	5.75	0.90469	BTB/Kelch-associated (2);	0.217246	0.47852	D	0.000217	T	0.78767	0.4335	L	0.58810	1.83	0.80722	D	1	D	0.58620	0.983	P	0.57057	0.812	T	0.77059	-0.2728	10	0.40728	T	0.16	.	17.4444	0.87574	0.0:1.0:0.0:0.0	.	218	Q14145	KEAP1_HUMAN	Q	218	ENSP00000171111:E218Q;ENSP00000377245:E218Q	ENSP00000171111:E218Q	E	-	1	0	KEAP1	10463926	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.710000	0.84655	2.719000	0.93026	0.484000	0.47621	GAG		0.607	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1		NM_012289		4	16	0	0	0	0.000602	0	4	16		
ZNF439	90594	broad.mit.edu	37	19	11978815	11978815	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:11978815C>T	ENST00000304030.2	+	3	1131	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.R175C	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	311					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)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CATGTGTCCCCGTTATGTTCG	0.413																																						uc002mss.2		NaN																	0				skin(1)	1						c.(931-933)CGT>TGT		zinc finger protein 439							132.0	128.0	130.0					19																	11978815		2203	4300	6503	SO:0001583	missense	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978815C>T	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.931C>T	19.37:g.11978815C>T	ENSP00000305077:p.Arg311Cys					ZNF439_uc002msr.2_Missense_Mutation_p.R175C	p.R311C	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN			3	1059	+			311			C2H2-type 5.		Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	c.931C>T	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	c	6.097	0.386089	0.11524	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.15372	2.43;2.43	0.575	-1.15	0.09709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11750	0.0286	L	0.39397	1.21	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.27773	-1.0064	9	0.56958	D	0.05	.	2.8749	0.05628	0.2289:0.3905:0.0:0.3805	.	311	Q8NDP4	ZN439_HUMAN	C	175;311	ENSP00000395632:R175C;ENSP00000305077:R311C	ENSP00000305077:R311C	R	+	1	0	ZNF439	11839815	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.096000	0.03353	-1.641000	0.01523	-1.111000	0.02071	CGT		0.413	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1				17	66	0	0	0	0.008871	0	17	66		
CRLF1	9244	broad.mit.edu	37	19	18705144	18705144	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:18705144C>T	ENST00000392386.3	-	7	1318	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K	CRLF1_ENST00000594325.1_5'UTR	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	375					negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						ACGCGTGCTTCTTGAGCCAGC	0.701																																						uc010ebt.1		NaN																	0				central_nervous_system(1)	1						c.(1123-1125)AAG>AAA		cytokine receptor-like factor 1 precursor							32.0	29.0	30.0					19																	18705144		2203	4300	6503	SO:0001819	synonymous_variant	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18705144C>T	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.1125G>A	19.37:g.18705144C>T							p.K375K	NM_004750	NP_004741	O75462	CRLF1_HUMAN			7	1319	-			375					Q9UHH5	Silent	SNP	ENST00000392386.3	37	c.1125G>A	CCDS32962.1																																																																																				0.701	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1				8	22	0	0	0	0.00308	0	8	22		
SUGP1	57794	broad.mit.edu	37	19	19407889	19407889	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:19407889C>G	ENST00000247001.5	-	8	1499	c.1152G>C	c.(1150-1152)aaG>aaC	p.K384N	SUGP1_ENST00000585763.1_5'Flank	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	384					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CCCACCGGCTCTTCCGCTTCC	0.667																																						uc002nmh.2		NaN																	0					0						c.(1150-1152)AAG>AAC		splicing factor 4							32.0	31.0	31.0					19																	19407889		2203	4300	6503	SO:0001583	missense	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19407889C>G	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1152G>C	19.37:g.19407889C>G	ENSP00000247001:p.Lys384Asn					SF4_uc002nmf.2_5'UTR|SF4_uc002nmg.2_5'UTR|SF4_uc002nmi.2_Missense_Mutation_p.K174N|SF4_uc002nmj.2_Missense_Mutation_p.K174N|SF4_uc010xqr.1_RNA	p.K384N	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN			8	1154	-			384			Nuclear localization signal (Potential).		O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.1152G>C	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085286	0.76642	.	.	ENSG00000105705	ENST00000247001	T	0.29142	1.58	3.66	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56673	-0.7940	10	0.66056	D	0.02	.	14.4623	0.67459	0.0:1.0:0.0:0.0	.	384	Q8IWZ8	SUGP1_HUMAN	N	384	ENSP00000247001:K384N	ENSP00000247001:K384N	K	-	3	2	SUGP1	19268889	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.690000	0.61731	2.069000	0.61940	0.491000	0.48974	AAG		0.667	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4		NM_021164		17	27	0	0	0	0.007413	0	17	27		
NPHS1	4868	broad.mit.edu	37	19	36322242	36322242	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:36322242C>T	ENST00000378910.5	-	26	3342	c.3343G>A	c.(3343-3345)Gag>Aag	p.E1115K	NPHS1_ENST00000353632.6_Missense_Mutation_p.E1075K	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1115					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGCTCTCCTCATATTCGTTC	0.627																																						uc002oby.2		NaN																	0				ovary(4)|skin(1)	5						c.(3343-3345)GAG>AAG		nephrin precursor							98.0	92.0	94.0					19																	36322242		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36322242C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3343G>A	19.37:g.36322242C>T	ENSP00000368190:p.Glu1115Lys					NPHS1_uc010eem.1_RNA	p.E1115K	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		26	3343	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		1115			Cytoplasmic (Potential).		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.3343G>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814201	0.50527	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.75154	-0.91;-0.89	5.07	5.07	0.68467	.	0.177921	0.48767	D	0.000178	T	0.69753	0.3146	L	0.29908	0.895	0.34727	D	0.729387	P	0.51791	0.948	P	0.48738	0.588	T	0.78373	-0.2229	10	0.51188	T	0.08	-18.8954	13.8667	0.63592	0.0:1.0:0.0:0.0	.	1115	O60500	NPHN_HUMAN	K	1115;1075	ENSP00000368190:E1115K;ENSP00000343634:E1075K	ENSP00000343634:E1075K	E	-	1	0	NPHS1	41014082	0.994000	0.37717	0.997000	0.53966	0.032000	0.12392	1.899000	0.39818	2.651000	0.90000	0.442000	0.29010	GAG		0.627	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1				32	52	0	0	0	0.002445	0	32	52		
CATSPERG	57828	broad.mit.edu	37	19	38851428	38851428	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:38851428G>A	ENST00000409235.3	+	16	1940	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K	CATSPERG_ENST00000215069.4_3'UTR|AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000410018.1_Missense_Mutation_p.E569K	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	609					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CGTGCCCGTGGAGCAGCTTCT	0.607																																						uc002oih.3		NaN																	0				ovary(1)|skin(1)	2						c.(1825-1827)GAG>AAG		cation channel, sperm-associated, gamma							40.0	34.0	36.0					19																	38851428		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38851428G>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1825G>A	19.37:g.38851428G>A	ENSP00000386962:p.Glu609Lys					CATSPERG_uc002oig.3_Missense_Mutation_p.E569K|CATSPERG_uc002oif.3_Missense_Mutation_p.E249K|CATSPERG_uc010efw.2_RNA	p.E609K	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			16	1912	+			609			Extracellular (Potential).		A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.1825G>A	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396342	0.62177	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T;T	0.32988	1.84;1.84;1.43	4.56	3.46	0.39613	.	0.859420	0.10065	N	0.720477	T	0.46464	0.1394	M	0.63428	1.95	0.80722	D	1	P;D	0.69078	0.939;0.997	P;D	0.64042	0.503;0.921	T	0.40194	-0.9576	10	0.46703	T	0.11	-22.5487	6.7329	0.23393	0.1306:0.0:0.8694:0.0	.	609;569	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	K	569;609;609	ENSP00000387057:E569K;ENSP00000386962:E609K;ENSP00000386950:E609K	ENSP00000386962:E609K	E	+	1	0	CATSPERG	43543268	0.883000	0.30277	0.876000	0.34364	0.013000	0.08279	1.043000	0.30316	2.388000	0.81334	0.467000	0.42956	GAG		0.607	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1		NM_021185		4	11	0	0	0	0.001168	0	4	11		
RYR1	6261	broad.mit.edu	37	19	39071143	39071143	+	Splice_Site	SNP	C	C	T	rs193922884		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:39071143C>T	ENST00000359596.3	+	101	14645	c.14645C>T	c.(14644-14646)aCg>aTg	p.T4882M	RYR1_ENST00000360985.3_Splice_Site_p.T4877M|RYR1_ENST00000355481.4_Splice_Site_p.T4877M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4882			T -> M (in CCD). {ECO:0000269|PubMed:18312400}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GACATGATGACGGTGAGCCCC	0.547																																						uc002oit.2		NaN																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	GRCh37	CM081417	RYR1	M		c.(14644-14646)ACG>ATG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						195.0	158.0	171.0					19																	39071143		2203	4300	6503	SO:0001630	splice_region_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39071143C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14646+1C>T	19.37:g.39071143C>T						RYR1_uc002oiu.2_Missense_Mutation_p.T4877M	p.T4882M	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		101	14775	+	all_cancers(60;7.91e-06)		4882			Helical; Name=M9; (Potential).		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.14645C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220892	0.39201	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98585	-5.01;-5.01;-5.01	4.57	4.57	0.56435	Ion transport (1);	0.000000	0.64402	U	0.000001	D	0.98280	0.9430	L	0.42686	1.345	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99833	1.1055	10	0.72032	D	0.01	.	17.1363	0.86740	0.0:1.0:0.0:0.0	.	4877;4882	P21817-2;P21817	.;RYR1_HUMAN	M	4882;4877;4877	ENSP00000352608:T4882M;ENSP00000347667:T4877M;ENSP00000354254:T4877M	ENSP00000347667:T4877M	T	+	2	0	RYR1	43762983	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	7.643000	0.83403	2.385000	0.81259	0.462000	0.41574	ACG		0.547	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			Missense_Mutation	23	34	0	0	0	0.002299	0	23	34		
DLL3	10683	broad.mit.edu	37	19	39995950	39995950	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:39995950G>C	ENST00000205143.4	+	6	959	c.952G>C	c.(952-954)Gat>Cat	p.D318H	DLL3_ENST00000356433.5_Missense_Mutation_p.D318H	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	318	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.			D -> N (in Ref. 2; BAC11535). {ECO:0000305}.	compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GACATGTGCAGATGGACCCTG	0.617																																						uc002olx.2		NaN																	0				central_nervous_system(2)|breast(1)	3						c.(952-954)GAT>CAT		delta-like 3 protein isoform 1 precursor							152.0	130.0	138.0					19																	39995950		2203	4300	6503	SO:0001583	missense	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39995950G>C	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.952G>C	19.37:g.39995950G>C	ENSP00000205143:p.Asp318His					DLL3_uc010egq.2_Missense_Mutation_p.D318H|DLL3_uc002olw.2_Missense_Mutation_p.D318H	p.D318H	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		6	1010	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		318			EGF-like 3.|Extracellular (Potential).		E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	c.952G>C	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788149	0.90367	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.87729	-2.29;-2.29	4.97	4.97	0.65823	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.42964	D	0.000639	D	0.91334	0.7267	L	0.50993	1.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90693	0.4614	9	.	.	.	.	16.9968	0.86370	0.0:0.0:1.0:0.0	.	318;318	Q9NYJ7;E9PFG2	DLL3_HUMAN;.	H	318	ENSP00000348810:D318H;ENSP00000205143:D318H	.	D	+	1	0	DLL3	44687790	1.000000	0.71417	0.913000	0.36048	0.893000	0.52053	7.459000	0.80802	2.296000	0.77279	0.561000	0.74099	GAT		0.617	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1				35	61	0	0	0	0.006999	0	35	61		
CYP2B6	1555	broad.mit.edu	37	19	41522600	41522600	+	Silent	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:41522600C>A	ENST00000324071.4	+	9	1351	c.1344C>A	c.(1342-1344)ctC>ctA	p.L448L	CYP2B6_ENST00000593831.1_Silent_p.L212L|CYP2B6_ENST00000330446.5_Silent_p.L248L	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	448					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	AATTGTTCCTCTTCTTCACCA	0.572																																						uc002opr.1		NaN																	0				ovary(1)|skin(1)	2						c.(1342-1344)CTC>CTA		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						118.0	85.0	96.0					19																	41522600		2203	4300	6503	SO:0001819	synonymous_variant	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41522600C>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.1344C>A	19.37:g.41522600C>A						CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Silent_p.L248L	p.L448L	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		9	1351	+			448					B4DWP3|Q2V565|Q9UK46	Silent	SNP	ENST00000324071.4	37	c.1344C>A	CCDS12570.1																																																																																				0.572	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1		NM_000767		11	15	1	0	4.68919e-08	0.008291	8.46595e-08	11	15		
CEACAM8	1088	broad.mit.edu	37	19	43097693	43097693	+	Splice_Site	SNP	G	G	A	rs146875157		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:43097693G>A	ENST00000244336.5	-	2	525	c.424C>T	c.(424-426)Ccg>Tcg	p.P142S	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	142	Ig-like V-type.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P142T(1)|p.P142S(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				AATCACTCACGATGTACGCTG	0.498																																						uc002oud.2		NaN																	2	Substitution - Missense(2)		skin(1)|pancreas(1)	ovary(1)	1						c.(424-426)CCG>TCG		carcinoembryonic antigen-related cell adhesion							149.0	129.0	136.0					19																	43097693		2203	4300	6503	SO:0001630	splice_region_variant	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43097693G>A	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.424+1C>T	19.37:g.43097693G>A						uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	p.P142S	NM_001816	NP_001807	P31997	CEAM8_HUMAN			2	526	-		Prostate(69;0.00899)	142			Ig-like V-type.		O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.424C>T	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	g	5.248	0.231201	0.09969	.	.	ENSG00000124469	ENST00000244336	T	0.19532	2.14	1.87	-0.363	0.12556	.	.	.	.	.	T	0.13072	0.0317	L	0.37850	1.14	0.09310	N	1	B	0.16802	0.019	B	0.12837	0.008	T	0.33033	-0.9884	8	.	.	.	.	4.0838	0.09939	0.4027:0.0:0.5973:0.0	.	142	P31997	CEAM8_HUMAN	S	142	ENSP00000244336:P142S	.	P	-	1	0	CEACAM8	47789533	0.003000	0.15002	0.003000	0.11579	0.148000	0.21650	-1.001000	0.03690	-0.038000	0.13624	0.313000	0.20887	CCG		0.498	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			Missense_Mutation	33	64	0	0	0	0.002096	0	33	64		
RTN2	6253	broad.mit.edu	37	19	45998201	45998201	+	Nonsense_Mutation	SNP	C	C	A	rs375715266		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:45998201C>A	ENST00000245923.4	-	3	377	c.142G>T	c.(142-144)Gag>Tag	p.E48*	PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Nonsense_Mutation_p.E48*|PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000430715.2_5'Flank|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	48					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GTCTCCTCCTCGTCCTCCTCT	0.617																																						uc002pcb.2		NaN																	0				ovary(3)	3						c.(142-144)GAG>TAG		reticulon 2 isoform A							43.0	43.0	43.0					19																	45998201		2203	4300	6503	SO:0001587	stop_gained	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45998201C>A	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.142G>T	19.37:g.45998201C>A	ENSP00000245923:p.Glu48*					RTN2_uc002pcc.2_Nonsense_Mutation_p.E48*|RTN2_uc002pcd.2_RNA	p.E48*	NM_005619	NP_005610	O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	3	370	-		Ovarian(192;0.051)|all_neural(266;0.112)	48					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Nonsense_Mutation	SNP	ENST00000245923.4	37	c.142G>T	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646054	0.87958	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	.	.	.	4.86	4.86	0.63082	.	0.120476	0.37437	N	0.002090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-16.8216	13.4756	0.61306	0.0:1.0:0.0:0.0	.	.	.	.	X	48	.	ENSP00000245923:E48X	E	-	1	0	RTN2	50690041	0.999000	0.42202	0.984000	0.44739	0.106000	0.19336	5.260000	0.65490	2.258000	0.74832	0.462000	0.41574	GAG		0.617	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1		NM_005619		25	31	1	0	4.72057e-08	0.003954	8.50167e-08	25	31		
GPR4	2828	broad.mit.edu	37	19	46094676	46094676	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:46094676G>C	ENST00000323040.4	-	2	1393	c.449C>G	c.(448-450)tCg>tGg	p.S150W	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	150					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)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CAGGGGCGCCGAGTTGGCGCC	0.667																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	uc002pcm.2		NaN																	0				ovary(2)	2						c.(448-450)TCG>TGG		G protein-coupled receptor 4							44.0	49.0	47.0					19																	46094676		2203	4300	6503	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094676G>C	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.449C>G	19.37:g.46094676G>C	ENSP00000319744:p.Ser150Trp					OPA3_uc010xxk.1_Intron	p.S150W	NM_005282	NP_005273	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1394	-			150			Helical; Name=4; (Potential).		A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.449C>G	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675307	0.47781	.	.	ENSG00000177464	ENST00000323040	T	0.72505	-0.66	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.73697	0.3620	M	0.76328	2.33	0.58432	D	0.999999	B	0.28998	0.23	B	0.34722	0.188	T	0.72268	-0.4343	10	0.38643	T	0.18	.	16.5114	0.84286	0.0:0.0:1.0:0.0	.	150	P46093	GPR4_HUMAN	W	150	ENSP00000319744:S150W	ENSP00000319744:S150W	S	-	2	0	GPR4	50786516	0.845000	0.29573	1.000000	0.80357	0.997000	0.91878	1.370000	0.34238	2.501000	0.84356	0.455000	0.32223	TCG		0.667	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1		NM_005282		23	65	0	0	0	0.00333	0	23	65		
IRF2BP1	26145	broad.mit.edu	37	19	46388452	46388452	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:46388452G>C	ENST00000302165.3	-	1	924	c.581C>G	c.(580-582)tCc>tGc	p.S194C		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CTCGAAATCGGAGCCGAAGAG	0.647																																						uc002pds.1		NaN																	0					0						c.(580-582)TCC>TGC		interferon regulatory factor 2 binding protein							58.0	69.0	65.0					19																	46388452		2202	4295	6497	SO:0001583	missense	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46388452G>C	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.581C>G	19.37:g.46388452G>C	ENSP00000307265:p.Ser194Cys						p.S194C	NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	925	-		all_neural(266;0.113)|Ovarian(192;0.127)	194					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	ENST00000302165.3	37	c.581C>G	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631326	0.46944	.	.	ENSG00000170604	ENST00000302165	T	0.47528	0.84	4.52	4.52	0.55395	.	0.346719	0.23159	U	0.051274	T	0.37652	0.1011	L	0.29908	0.895	0.27302	N	0.957563	P	0.39964	0.697	B	0.37550	0.253	T	0.43163	-0.9408	10	0.72032	D	0.01	.	14.7878	0.69816	0.0:0.0:1.0:0.0	.	194	Q8IU81	I2BP1_HUMAN	C	194	ENSP00000307265:S194C	ENSP00000307265:S194C	S	-	2	0	IRF2BP1	51080292	0.432000	0.25554	0.987000	0.45799	0.969000	0.65631	2.327000	0.43858	2.333000	0.79357	0.407000	0.27541	TCC		0.647	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1		NM_015649		29	85	0	0	0	0.002096	0	29	85		
PRRG2	5639	broad.mit.edu	37	19	50086939	50086939	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:50086939G>A	ENST00000246794.5	+	3	395	c.226G>A	c.(226-228)Gag>Aag	p.E76K	PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	76	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		TTCCTGGGAAGAGGCCAGGGA	0.577																																						uc002pon.3		NaN																	0				skin(1)	1						c.(226-228)GAG>AAG		proline rich Gla (G-carboxyglutamic acid) 2							90.0	93.0	92.0					19																	50086939		2203	4300	6503	SO:0001583	missense	5639					extracellular region|integral to plasma membrane	calcium ion binding	g.chr19:50086939G>A		CCDS12773.1	19q13.33	2008-02-05	2004-05-27						9470	protein-coding gene	gene with protein product		604429	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 2"""			9256434	Standard	NM_000951		Approved	PRGP2	uc002pon.3	O14669		ENST00000246794.5:c.226G>A	19.37:g.50086939G>A	ENSP00000246794:p.Glu76Lys					PRRG2_uc010yaz.1_Missense_Mutation_p.E53K	p.E76K	NM_000951	NP_000942	O14669	TMG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)	3	391	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	76			Gla.|Extracellular (Potential).		Q6IBF8	Missense_Mutation	SNP	ENST00000246794.5	37	c.226G>A	CCDS12773.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512160	0.96402	.	.	ENSG00000126460	ENST00000246794;ENST00000543867	D	0.99863	-7.27	5.87	5.87	0.94306	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.000000	0.85682	D	0.000000	D	0.99896	0.9950	H	0.94264	3.515	0.46725	D	0.999175	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	D	0.96537	0.9397	10	0.87932	D	0	-21.7347	15.7767	0.78228	0.0:0.0:1.0:0.0	.	53;76	F5GZ13;O14669	.;TMG2_HUMAN	K	76;53	ENSP00000246794:E76K	ENSP00000246794:E76K	E	+	1	0	PRRG2	54778751	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.377000	0.79668	2.808000	0.96608	0.650000	0.86243	GAG		0.577	PRRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465257.1		NM_000951		26	60	0	0	0	0.005443	0	26	60		
GPR32	2854	broad.mit.edu	37	19	51274256	51274256	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:51274256C>G	ENST00000270590.4	+	1	536	c.399C>G	c.(397-399)gtC>gtG	p.V133V		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	133					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GCCTCCTTGTCTTCATCTCTG	0.577																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(397-399)GTC>GTG		G protein-coupled receptor 32							191.0	183.0	185.0					19																	51274256		2203	4300	6503	SO:0001819	synonymous_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274256C>G	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.399C>G	19.37:g.51274256C>G							p.V133V	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	399	+		all_neural(266;0.131)	133			Helical; Name=3; (Potential).		Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	37	c.399C>G	CCDS12801.1																																																																																				0.577	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1				42	106	0	0	0	0.003214	0	42	106		
KLK6	5653	broad.mit.edu	37	19	51470546	51470546	+	Missense_Mutation	SNP	C	C	T	rs200733164		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:51470546C>T	ENST00000376851.3	-	3	515	c.76G>A	c.(76-78)Gga>Aga	p.G26R	KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000594641.1_Missense_Mutation_p.G26R|KLK6_ENST00000424910.2_Intron|KLK6_ENST00000310157.2_Missense_Mutation_p.G26R|KLK6_ENST00000376853.4_Missense_Mutation_p.G26R|CTB-147C22.9_ENST00000594512.1_RNA	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	26	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TCGCAGGGTCCGCCATGCACC	0.572																																						uc002pui.2		NaN																	0					0						c.(76-78)GGA>AGA		kallikrein-related peptidase 6 isoform A							132.0	116.0	121.0					19																	51470546		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51470546C>T	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.76G>A	19.37:g.51470546C>T	ENSP00000366047:p.Gly26Arg					KLK6_uc010eoj.2_Missense_Mutation_p.G26R|KLK6_uc002puh.2_Missense_Mutation_p.G35R|KLK6_uc002puj.2_5'UTR|KLK6_uc010ycn.1_Intron|KLK6_uc002pul.2_Missense_Mutation_p.G26R|KLK6_uc002pum.2_Intron	p.G26R	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	4	336	-		all_neural(266;0.026)	26			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.76G>A	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394626	0.25205	.	.	ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000376853	D;D;D	0.87491	-2.26;-2.26;-2.26	4.31	0.694	0.18062	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.260160	0.21076	N	0.080566	T	0.72732	0.3497	N	0.01800	-0.715	0.09310	N	1	D;B	0.61697	0.99;0.154	P;B	0.52386	0.697;0.029	T	0.66590	-0.5885	10	0.56958	D	0.05	.	5.3701	0.16134	0.4974:0.3997:0.0:0.1029	.	26;26	E7ETY0;Q92876	.;KLK6_HUMAN	R	26	ENSP00000309148:G26R;ENSP00000366047:G26R;ENSP00000366049:G26R	ENSP00000309148:G26R	G	-	1	0	KLK6	56162358	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.084000	0.14891	0.529000	0.28599	0.555000	0.69702	GGA		0.572	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1		NM_002774		34	16	0	0	0	0.003271	0	34	16		
SIGLEC6	946	broad.mit.edu	37	19	52023405	52023405	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:52023405G>T	ENST00000425629.3	-	8	1447	c.1293C>A	c.(1291-1293)ttC>ttA	p.F431L	SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000391797.3_3'UTR|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.F415L|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.F379L|SIGLEC6_ENST00000343300.4_3'UTR	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	431					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GCACCTTGTGGAAGTGTAGGA	0.502																																						uc002pwy.2		NaN																	0				ovary(1)	1						c.(1291-1293)TTC>TTA		sialic acid binding Ig-like lectin 6 isoform 1							208.0	200.0	203.0					19																	52023405		1996	4184	6180	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52023405G>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1293C>A	19.37:g.52023405G>T	ENSP00000401502:p.Phe431Leu					SIGLEC6_uc002pwz.2_Missense_Mutation_p.F415L|SIGLEC6_uc002pxa.2_3'UTR|SIGLEC6_uc010ydb.1_Missense_Mutation_p.F368L|SIGLEC6_uc010ydc.1_3'UTR|SIGLEC6_uc010eoz.1_3'UTR	p.F431L	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	8	1455	-		all_neural(266;0.0199)	431			Cytoplasmic (Potential).		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.1293C>A	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	.	11.08	1.534659	0.27475	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000436458	T;T	0.05258	3.47;3.47	2.57	-2.81	0.05805	.	.	.	.	.	T	0.16896	0.0406	M	0.77616	2.38	0.09310	N	1	D;D;P	0.71674	0.998;0.975;0.89	P;P;B	0.62089	0.898;0.664;0.354	T	0.04621	-1.0938	9	0.42905	T	0.14	.	7.2776	0.26294	0.3357:0.0:0.6643:0.0	.	379;415;431	C9JBE5;O43699-3;O43699	.;.;SIGL6_HUMAN	L	404;415;431;379	ENSP00000401502:F431L;ENSP00000410679:F379L	ENSP00000344064:F404L	F	-	3	2	SIGLEC6	56715217	0.006000	0.16342	0.000000	0.03702	0.011000	0.07611	-0.989000	0.03736	-0.644000	0.05465	0.609000	0.83330	TTC		0.502	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3		NM_001245		42	141	1	0	9.84934e-19	0.002522	1.86071e-18	42	141		
ZNF175	7728	broad.mit.edu	37	19	52090205	52090205	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:52090205G>A	ENST00000262259.2	+	5	979	c.621G>A	c.(619-621)ctG>ctA	p.L207L	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	207					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTTGAAGCTGAACCTAGAAG	0.443																																						uc002pxb.2		NaN																	0					0						c.(619-621)CTG>CTA		zinc finger protein 175							84.0	79.0	81.0					19																	52090205		2203	4299	6502	SO:0001819	synonymous_variant	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090205G>A	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.621G>A	19.37:g.52090205G>A							p.L207L	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	999	+		all_neural(266;0.0299)	207					A8K9H2	Silent	SNP	ENST00000262259.2	37	c.621G>A	CCDS12837.1																																																																																				0.443	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1		NM_007147		18	61	0	0	0	0.008871	0	18	61		
LILRA2	11027	broad.mit.edu	37	19	55086014	55086014	+	Nonsense_Mutation	SNP	C	C	G	rs199926951		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:55086014C>G	ENST00000251377.3	+	4	450	c.317C>G	c.(316-318)tCa>tGa	p.S106*	LILRA2_ENST00000391738.3_Nonsense_Mutation_p.S106*|LILRA2_ENST00000391737.1_Nonsense_Mutation_p.S94*|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Nonsense_Mutation_p.S106*			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	106	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		AATCACTCATCAGAGTACAGT	0.592																																						uc002qgg.3		NaN																	0				ovary(1)	1						c.(316-318)TCA>TGA		leukocyte immunoglobulin-like receptor,							80.0	71.0	74.0					19																	55086014		2203	4300	6503	SO:0001587	stop_gained	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55086014C>G	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.317C>G	19.37:g.55086014C>G	ENSP00000251377:p.Ser106*					LILRA2_uc010ern.2_Nonsense_Mutation_p.S106*|LILRA2_uc002qgf.2_Nonsense_Mutation_p.S106*|LILRA2_uc010yfe.1_Nonsense_Mutation_p.S106*|LILRA2_uc010yff.1_Nonsense_Mutation_p.S94*|LILRA2_uc010ero.2_Nonsense_Mutation_p.S94*|LILRA2_uc010yfg.1_Nonsense_Mutation_p.S106*	p.S106*	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	3	406	+			106			Extracellular (Potential).|Ig-like C2-type 1.		O75020	Nonsense_Mutation	SNP	ENST00000251377.3	37	c.317C>G	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075794	0.55646	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	.	.	.	2.93	2.93	0.34026	.	.	.	.	.	.	.	.	.	.	.	0.34683	D	0.724945	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.5397	0.39244	0.0:1.0:0.0:0.0	.	.	.	.	X	106;106;106;106;94	.	ENSP00000251376:S106X	S	+	2	0	LILRA2	59777826	0.147000	0.22687	0.039000	0.18376	0.010000	0.07245	2.700000	0.47085	1.643000	0.50594	0.508000	0.49915	TCA		0.592	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2				15	30	0	0	0	0.00245	0	15	30		
PPP1R12C	54776	broad.mit.edu	37	19	55607503	55607503	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:55607503G>A	ENST00000263433.3	-	8	1084	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*	PPP1R12C_ENST00000376393.2_Nonsense_Mutation_p.Q357*|PPP1R12C_ENST00000435544.2_Nonsense_Mutation_p.Q283*	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GACAAGTCCTGGAGGGAAATC	0.672																																						uc002qix.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1069-1071)CAG>TAG		protein phosphatase 1, regulatory subunit 12C							48.0	57.0	54.0					19																	55607503		2203	4300	6503	SO:0001587	stop_gained	54776					cytoplasm		g.chr19:55607503G>A	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1069C>T	19.37:g.55607503G>A	ENSP00000263433:p.Gln357*					PPP1R12C_uc010yfs.1_Nonsense_Mutation_p.Q283*|PPP1R12C_uc002qiy.2_Nonsense_Mutation_p.Q357*	p.Q357*	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	8	1085	-			357						Nonsense_Mutation	SNP	ENST00000263433.3	37	c.1069C>T	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	G	37	6.448267	0.97577	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	.	.	.	4.59	4.59	0.56863	.	0.074197	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	15.2754	0.73737	0.0:0.0:1.0:0.0	.	.	.	.	X	357;357;283	.	ENSP00000263433:Q357X	Q	-	1	0	PPP1R12C	60299315	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.321000	0.72881	2.261000	0.74972	0.655000	0.94253	CAG		0.672	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2		NM_017607		19	40	0	0	0	0.008871	0	19	40		
ADAM17	6868	broad.mit.edu	37	2	9642368	9642368	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:9642368C>T	ENST00000310823.3	-	13	1764	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	528	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TGGGCAGTCTCAAACTGACAG	0.468																																						uc002qzu.2		NaN																	0				lung(1)|kidney(1)	2						c.(1582-1584)GAG>AAG		a disintegrin and metalloprotease domain 17							201.0	190.0	194.0					2																	9642368		2203	4300	6503	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9642368C>T	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1582G>A	2.37:g.9642368C>T	ENSP00000309968:p.Glu528Lys					ADAM17_uc010ewy.2_Missense_Mutation_p.E528K|ADAM17_uc010ewz.2_Intron	p.E528K	NM_003183	NP_003174	P78536	ADA17_HUMAN		Epithelial(75;0.225)	13	1765	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		528			Disintegrin.|Extracellular (Potential).		O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.1582G>A	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249237	0.39797	.	.	ENSG00000151694	ENST00000310823	T	0.10099	2.91	5.16	5.16	0.70880	Blood coagulation inhibitor, Disintegrin (5);	0.091143	0.85682	D	0.000000	T	0.06508	0.0167	N	0.10645	0.015	0.80722	D	1	B;B	0.24186	0.099;0.099	B;B	0.25405	0.06;0.06	T	0.23368	-1.0190	10	0.07175	T	0.84	.	18.6464	0.91411	0.0:1.0:0.0:0.0	.	528;528	B2RNB2;P78536	.;ADA17_HUMAN	K	528	ENSP00000309968:E528K	ENSP00000309968:E528K	E	-	1	0	ADAM17	9559819	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.958000	0.49145	2.382000	0.81193	0.462000	0.41574	GAG		0.468	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1				57	123	0	0	0	0.00361	0	57	123		
NOL10	79954	broad.mit.edu	37	2	10712233	10712233	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:10712233C>T	ENST00000381685.5	-	21	2136	c.2031G>A	c.(2029-2031)ctG>ctA	p.L677L	NOL10_ENST00000345985.3_Silent_p.L627L|NOL10_ENST00000538384.1_Silent_p.L651L|NOL10_ENST00000542668.1_Silent_p.L627L	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	677						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GTCTTGACTTCAGGTGTCCGG	0.478																																						uc002raq.2		NaN																	0					0						c.(2029-2031)CTG>CTA		nucleolar protein 10							280.0	246.0	258.0					2																	10712233		2203	4300	6503	SO:0001819	synonymous_variant	79954					nucleolus		g.chr2:10712233C>T	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.2031G>A	2.37:g.10712233C>T						NOL10_uc010yje.1_Silent_p.L651L|NOL10_uc010yjf.1_Silent_p.L627L|NOL10_uc002rap.2_Silent_p.L627L	p.L677L	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)	21	2156	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		677					A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Silent	SNP	ENST00000381685.5	37	c.2031G>A	CCDS1673.2																																																																																				0.478	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1		NM_024894		88	203	0	0	0	0.00361	0	88	203		
APOB	338	broad.mit.edu	37	2	21228217	21228217	+	Silent	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:21228217A>G	ENST00000233242.1	-	26	11650	c.11523T>C	c.(11521-11523)aaT>aaC	p.N3841N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3841					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCTACTGCATTTAGATCCA	0.458																																						uc002red.2		NaN																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(11521-11523)AAT>AAC		apolipoprotein B precursor	Atorvastatin(DB01076)						150.0	135.0	140.0					2																	21228217		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228217A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11523T>C	2.37:g.21228217A>G							p.N3841N	NM_000384	NP_000375	P04114	APOB_HUMAN			26	11651	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3841					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.11523T>C	CCDS1703.1																																																																																				0.458	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1				32	71	0	0	0	0.003271	0	32	71		
CIB4	130106	broad.mit.edu	37	2	26806690	26806690	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:26806690C>A	ENST00000288861.4	-	5	458	c.405G>T	c.(403-405)atG>atT	p.M135I	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	135							calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCTCAGACATGTCATCAC	0.567																																						uc002rhm.2		NaN																	0				ovary(1)	1						c.(403-405)ATG>ATT		calcium and integrin binding family member 4							133.0	117.0	122.0					2																	26806690		2203	4300	6503	SO:0001583	missense	130106						calcium ion binding	g.chr2:26806690C>A		CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"""EF-hand domain containing"""	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.405G>T	2.37:g.26806690C>A	ENSP00000288861:p.Met135Ile						p.M135I	NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN			5	434	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		135					B2RU18	Missense_Mutation	SNP	ENST00000288861.4	37	c.405G>T	CCDS33160.1	.	.	.	.	.	.	.	.	.	.	C	9.465	1.094123	0.20471	.	.	ENSG00000157884	ENST00000288861;ENST00000403670;ENST00000405346	T	0.70986	-0.53	5.53	4.66	0.58398	EF-hand-like domain (1);	0.844648	0.10316	N	0.689346	T	0.52933	0.1765	N	0.10874	0.06	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44605	-0.9317	10	0.46703	T	0.11	.	10.3059	0.43680	0.0:0.9094:0.0:0.0906	.	135	A0PJX0	CIB4_HUMAN	I	135;90;137	ENSP00000288861:M135I	ENSP00000288861:M135I	M	-	3	0	CIB4	26660194	0.008000	0.16893	0.366000	0.25914	0.217000	0.24651	0.607000	0.24209	1.358000	0.45922	-0.136000	0.14681	ATG		0.567	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324709.1				22	69	1	0	7.41945e-09	0.005443	1.34283e-08	22	69		
DPYSL5	56896	broad.mit.edu	37	2	27162914	27162914	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:27162914C>T	ENST00000288699.6	+	9	1121	c.963C>T	c.(961-963)atC>atT	p.I321I	DPYSL5_ENST00000401478.1_Silent_p.I321I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	321					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTGAACATCGTGGCATCAG	0.527																																						uc002rhu.3		NaN																	0				ovary(2)	2						c.(961-963)ATC>ATT		dihydropyrimidinase-like 5							143.0	136.0	138.0					2																	27162914		2203	4300	6503	SO:0001819	synonymous_variant	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27162914C>T	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.963C>T	2.37:g.27162914C>T						DPYSL5_uc002rhv.3_Silent_p.I321I	p.I321I	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN			9	1121	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		321					Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	ENST00000288699.6	37	c.963C>T	CCDS1730.1																																																																																				0.527	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2		NM_020134		36	87	0	0	0	0.007835	0	36	87		
SLC30A6	55676	broad.mit.edu	37	2	32419022	32419022	+	Missense_Mutation	SNP	C	C	G	rs148435831		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:32419022C>G	ENST00000282587.5	+	8	503	c.466C>G	c.(466-468)Cgg>Ggg	p.R156G	SLC30A6_ENST00000538303.1_Missense_Mutation_p.R127G|SLC30A6_ENST00000379343.2_Missense_Mutation_p.R196G|SLC30A6_ENST00000435660.1_Missense_Mutation_p.R156G|SLC30A6_ENST00000406369.1_Missense_Mutation_p.R82G|SLC30A6_ENST00000357055.3_5'UTR	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	156					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTTTCTATTCGGAATAAACC	0.303																																						uc002roe.1		NaN																	0					0						c.(466-468)CGG>GGG		solute carrier family 30 (zinc transporter),							238.0	219.0	225.0					2																	32419022		2202	4300	6502	SO:0001583	missense	55676					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	g.chr2:32419022C>G	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.466C>G	2.37:g.32419022C>G	ENSP00000282587:p.Arg156Gly					SLC30A6_uc002rof.1_Missense_Mutation_p.R196G|SLC30A6_uc010ymw.1_Missense_Mutation_p.R127G|SLC30A6_uc010ezr.1_Missense_Mutation_p.R156G|SLC30A6_uc002rog.1_5'UTR|SLC30A6_uc010ezs.1_Missense_Mutation_p.R82G|SLC30A6_uc002roh.1_5'UTR	p.R156G	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN			8	503	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		156			Cytoplasmic (Potential).		A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	ENST00000282587.5	37	c.466C>G	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836707	0.32421	.	.	ENSG00000152683	ENST00000379343;ENST00000440718;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000406369	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.74	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.19935	0.001;0.004;0.04;0.001	B;B;B;B	0.19666	0.026;0.012;0.025;0.006	T	0.39563	-0.9608	10	0.22109	T	0.4	-16.1661	13.126	0.59356	0.2498:0.7502:0.0:0.0	.	127;156;196;156	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	G	196;127;156;156;127;82	ENSP00000368648:R196G;ENSP00000393946:R127G;ENSP00000282587:R156G;ENSP00000399005:R156G;ENSP00000440678:R127G;ENSP00000384041:R82G	ENSP00000282587:R156G	R	+	1	2	SLC30A6	32272526	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.531000	0.45650	2.715000	0.92844	0.655000	0.94253	CGG		0.303	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2				29	87	0	0	0	0.002836	0	29	87		
CEBPZ	10153	broad.mit.edu	37	2	37441016	37441016	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:37441016C>G	ENST00000234170.5	-	10	2681	c.2536G>C	c.(2536-2538)Gag>Cag	p.E846Q	AC007390.5_ENST00000438935.2_Intron|RP11-423P10.2_ENST00000606229.1_RNA	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	846					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CCAATCAGCTCTTCAAATTCT	0.318																																						uc002rpz.2		NaN																	0				pancreas(1)	1						c.(2536-2538)GAG>CAG		CCAAT/enhancer binding protein zeta							212.0	205.0	207.0					2																	37441016		2202	4300	6502	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37441016C>G	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.2536G>C	2.37:g.37441016C>G	ENSP00000234170:p.Glu846Gln						p.E846Q	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN			10	2566	-		all_hematologic(82;0.21)	846					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.2536G>C	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	C	9.949	1.219493	0.22373	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.15952	2.38	5.41	1.78	0.24846	Armadillo-type fold (1);	0.383751	0.30791	N	0.008864	T	0.09069	0.0224	N	0.14661	0.345	0.19775	N	0.999957	B	0.22983	0.078	B	0.18263	0.021	T	0.25813	-1.0121	10	0.41790	T	0.15	.	8.6864	0.34240	0.0:0.2177:0.0:0.7823	.	846	Q03701	CEBPZ_HUMAN	Q	846	ENSP00000234170:E846Q	ENSP00000234170:E846Q	E	-	1	0	CEBPZ	37294520	0.997000	0.39634	0.802000	0.32245	0.351000	0.29236	2.706000	0.47135	0.074000	0.16767	-0.238000	0.12139	GAG		0.318	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2		NM_005760		12	16	0	0	0	0.000978	0	12	16		
EPAS1	2034	broad.mit.edu	37	2	46583348	46583348	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:46583348G>A	ENST00000263734.3	+	3	786	c.276G>A	c.(274-276)ctG>ctA	p.L92L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	92	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACTTGTACCTGAAAGCCTTGG	0.517																																						uc002ruv.2		NaN																	0				ovary(1)|skin(1)	2						c.(274-276)CTG>CTA		endothelial PAS domain protein 1							116.0	102.0	107.0					2																	46583348		2203	4300	6503	SO:0001819	synonymous_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46583348G>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.276G>A	2.37:g.46583348G>A							p.L92L	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		3	764	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	92			PAS 1.		Q86VA2|Q99630	Silent	SNP	ENST00000263734.3	37	c.276G>A	CCDS1825.1																																																																																				0.517	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2		NM_001430		22	57	0	0	0	0.00278	0	22	57		
EPAS1	2034	broad.mit.edu	37	2	46583934	46583934	+	Silent	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:46583934G>C	ENST00000263734.3	+	4	951	c.441G>C	c.(439-441)ctG>ctC	p.L147L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	147	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTGAGAACCTGAGTCTCAAAA	0.458																																						uc002ruv.2		NaN																	0				ovary(1)|skin(1)	2						c.(439-441)CTG>CTC		endothelial PAS domain protein 1							139.0	133.0	135.0					2																	46583934		2203	4300	6503	SO:0001819	synonymous_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46583934G>C	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.441G>C	2.37:g.46583934G>C							p.L147L	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		4	929	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	147			PAS 1.		Q86VA2|Q99630	Silent	SNP	ENST00000263734.3	37	c.441G>C	CCDS1825.1																																																																																				0.458	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2		NM_001430		16	33	0	0	0	0.00499	0	16	33		
GPR75	10936	broad.mit.edu	37	2	54080793	54080793	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:54080793G>A	ENST00000394705.2	-	2	1371	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	367					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATCCTGACTTGAAAAATATAA	0.428																																						uc002rxo.3		NaN																	0				ovary(1)|skin(1)	2						c.(1099-1101)TTC>TTT		G protein-coupled receptor 75							47.0	52.0	50.0					2																	54080793		2203	4300	6503	SO:0001819	synonymous_variant	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54080793G>A	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.1101C>T	2.37:g.54080793G>A						ASB3_uc002rxi.3_Intron	p.F367F	NM_006794	NP_006785	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1372	-			367			Helical; Name=7; (Potential).		B2RC02|Q6NWR2	Silent	SNP	ENST00000394705.2	37	c.1101C>T	CCDS1849.1																																																																																				0.428	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2				14	57	0	0	0	0.001855	0	14	57		
EHBP1	23301	broad.mit.edu	37	2	63175857	63175857	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:63175857G>A	ENST00000263991.5	+	14	2463	c.1981G>A	c.(1981-1983)Gga>Aga	p.G661R	EHBP1_ENST00000405015.3_Missense_Mutation_p.G626R|EHBP1_ENST00000405289.1_Missense_Mutation_p.G626R|EHBP1_ENST00000354487.3_Missense_Mutation_p.G626R|EHBP1_ENST00000431489.1_Missense_Mutation_p.G626R	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	661						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GCAGAGCTCTGGAAGGACTTC	0.468																																						uc002sby.2		NaN																	0				ovary(1)|breast(1)	2						c.(1981-1983)GGA>AGA		EH domain binding protein 1 isoform 1							53.0	54.0	54.0					2																	63175857		2203	4300	6503	SO:0001583	missense	23301	Hereditary_Prostate_Cancer				cytoplasm|membrane		g.chr2:63175857G>A	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1981G>A	2.37:g.63175857G>A	ENSP00000263991:p.Gly661Arg					EHBP1_uc010fcp.2_Missense_Mutation_p.G626R|EHBP1_uc002sbz.2_Missense_Mutation_p.G626R|EHBP1_uc002scb.2_Missense_Mutation_p.G626R	p.G661R	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		14	2463	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		661					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.1981G>A	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509696	0.64522	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T	0.75050	-0.9;-0.9;-0.87;-0.88;-0.88	6.03	6.03	0.97812	.	0.277500	0.36740	N	0.002425	T	0.79257	0.4415	L	0.55481	1.735	0.29788	N	0.833417	P;B;P	0.46277	0.71;0.01;0.875	P;B;P	0.55055	0.767;0.025;0.682	T	0.72988	-0.4124	10	0.19147	T	0.46	.	15.973	0.80034	0.0:0.1339:0.8661:0.0	.	626;626;661	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	R	626;626;661;626;626	ENSP00000384143:G626R;ENSP00000403783:G626R;ENSP00000263991:G661R;ENSP00000346482:G626R;ENSP00000385524:G626R	ENSP00000263991:G661R	G	+	1	0	EHBP1	63029361	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.130000	0.50508	2.861000	0.98227	0.655000	0.94253	GGA		0.468	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1		NM_015252		17	24	0	0	0	0.004007	0	17	24		
SFTPB	6439	broad.mit.edu	37	2	85890579	85890579	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:85890579C>T	ENST00000519937.2	-	8	911	c.892G>A	c.(892-894)Gag>Aag	p.E298K	SFTPB_ENST00000409383.1_Missense_Mutation_p.E310K|SFTPB_ENST00000342375.3_Missense_Mutation_p.E298K|SFTPB_ENST00000393822.3_Missense_Mutation_p.E310K			P07988	PSPB_HUMAN	surfactant protein B	298	Saposin B-type 3. {ECO:0000255|PROSITE- ProRule:PRU00415}.				organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						AGGTGGCACTCAGAGTCTCGC	0.612																																						uc002sqh.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(892-894)GAG>AAG		surfactant, pulmonary-associated protein B							37.0	36.0	36.0					2																	85890579		2203	4300	6503	SO:0001583	missense	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85890579C>T	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.892G>A	2.37:g.85890579C>T	ENSP00000428719:p.Glu298Lys					SFTPB_uc002sqi.2_Missense_Mutation_p.E306K|SFTPB_uc002sqj.2_Missense_Mutation_p.E298K|SFTPB_uc010ysw.1_5'Flank	p.E298K	NM_198843	NP_942140	P07988	PSPB_HUMAN			8	898	-			298			Saposin B-type 3.		Q96R04	Missense_Mutation	SNP	ENST00000519937.2	37	c.892G>A		.	.	.	.	.	.	.	.	.	.	C	6.694	0.496642	0.12762	.	.	ENSG00000168878	ENST00000519937;ENST00000393822;ENST00000342375;ENST00000409383;ENST00000441838	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.15	1.8	0.24995	Saposin-like (2);Saposin B (2);	0.793838	0.11118	N	0.597778	T	0.69717	0.3142	N	0.22421	0.69	0.22552	N	0.998992	B;B	0.15473	0.013;0.003	B;B	0.12156	0.007;0.007	T	0.51553	-0.8691	10	0.06757	T	0.87	-7.3738	5.6094	0.17396	0.0:0.6862:0.1562:0.1576	.	310;298	D6W5L6;P07988	.;PSPB_HUMAN	K	300;310;298;310;266	ENSP00000428719:E300K;ENSP00000377409:E310K;ENSP00000345161:E298K;ENSP00000386346:E310K	ENSP00000345161:E298K	E	-	1	0	SFTPB	85744090	0.000000	0.05858	0.120000	0.21714	0.053000	0.15095	-1.025000	0.03600	-0.004000	0.14419	0.561000	0.74099	GAG		0.612	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3		NM_198843		14	28	0	0	0	0.004007	0	14	28		
AFF3	3899	broad.mit.edu	37	2	100170988	100170988	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:100170988C>T	ENST00000409236.2	-	22	3456	c.3344G>A	c.(3343-3345)gGa>gAa	p.G1115E	AFF3_ENST00000356421.2_Missense_Mutation_p.G1140E|AFF3_ENST00000317233.4_Missense_Mutation_p.G1115E|AFF3_ENST00000409579.1_Missense_Mutation_p.G1140E			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1115					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGATGGGGTTCCAGTGCTCCT	0.652																																						uc002tag.2		NaN																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(3343-3345)GGA>GAA		AF4/FMR2 family, member 3 isoform 1							27.0	27.0	27.0					2																	100170988		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100170988C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3344G>A	2.37:g.100170988C>T	ENSP00000387207:p.Gly1115Glu					AFF3_uc002taf.2_Missense_Mutation_p.G1140E	p.G1115E	NM_002285	NP_002276	P51826	AFF3_HUMAN			23	3580	-			1115					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.3344G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468092	0.84533	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.79	5.79	0.91817	.	0.477226	0.21636	N	0.071411	D	0.84014	0.5379	M	0.66439	2.03	0.80722	D	1	B;D	0.89917	0.41;1.0	P;D	0.77557	0.573;0.99	D	0.83937	0.0309	10	0.62326	D	0.03	.	20.0222	0.97508	0.0:1.0:0.0:0.0	.	1115;1140	P51826;P51826-2	AFF3_HUMAN;.	E	1115;1140;1140;1115	ENSP00000317421:G1115E;ENSP00000348793:G1140E;ENSP00000386834:G1140E;ENSP00000387207:G1115E	ENSP00000317421:G1115E	G	-	2	0	AFF3	99537420	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.964000	0.56780	2.726000	0.93360	0.655000	0.94253	GGA		0.652	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285		4	7	0	0	0	0.000248	0	4	7		
CCDC138	165055	broad.mit.edu	37	2	109411023	109411023	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:109411023C>G	ENST00000295124.4	+	5	482	c.422C>G	c.(421-423)tCg>tGg	p.S141W	CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_Missense_Mutation_p.S141W	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	141										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						ACGACCTCATCGAGACCTCGG	0.383																																						uc002ten.1		NaN																	0					0						c.(421-423)TCG>TGG		coiled-coil domain containing 138							86.0	85.0	85.0					2																	109411023		2203	4300	6503	SO:0001583	missense	165055							g.chr2:109411023C>G	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.422C>G	2.37:g.109411023C>G	ENSP00000295124:p.Ser141Trp					CCDC138_uc002teo.1_Missense_Mutation_p.S141W|CCDC138_uc002tep.1_Translation_Start_Site|CCDC138_uc010fjm.1_Translation_Start_Site	p.S141W	NM_144978	NP_659415	Q96M89	CC138_HUMAN			5	482	+			141					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	c.422C>G	CCDS2080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.96|11.96	1.795693|1.795693	0.31777|0.31777	.|.	.|.	ENSG00000163006|ENSG00000163006	ENST00000456512|ENST00000412964;ENST00000295124	.|D;D	.|0.90788	.|-2.73;-2.73	5.46|5.46	3.59|3.59	0.41128|0.41128	.|.	.|1.306420	.|0.05262	.|N	.|0.515925	D|D	0.92880|0.92880	0.7735|0.7735	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	.|D;D	.|0.65815	.|0.995;0.995	.|P;P	.|0.57960	.|0.83;0.747	T|T	0.80398|0.80398	-0.1399|-0.1399	5|10	.|0.87932	.|D	.|0	-14.081|-14.081	10.3264|10.3264	0.43796|0.43796	0.0:0.8282:0.0:0.1718|0.0:0.8282:0.0:0.1718	.|.	.|141;141	.|Q96M89-2;Q96M89	.|.;CC138_HUMAN	G|W	39|141	.|ENSP00000411800:S141W;ENSP00000295124:S141W	.|ENSP00000295124:S141W	R|S	+|+	1|2	2|0	CCDC138|CCDC138	108777455|108777455	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.035000|0.035000	0.12851|0.12851	0.039000|0.039000	0.13884|0.13884	0.723000|0.723000	0.32274|0.32274	0.561000|0.561000	0.74099|0.74099	CGA|TCG		0.383	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1		NM_144978		32	58	0	0	0	0.004289	0	32	58		
MERTK	10461	broad.mit.edu	37	2	112705072	112705072	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:112705072A>G	ENST00000295408.4	+	4	942	c.685A>G	c.(685-687)Att>Gtt	p.I229V	MERTK_ENST00000421804.2_Missense_Mutation_p.I229V|MERTK_ENST00000409780.1_Missense_Mutation_p.I53V			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	229	Ig-like C2-type 2.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCCCGTCAACATTTTCTGGGT	0.507																																						uc002thk.1		NaN																	0				lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(685-687)ATT>GTT		MER receptor tyrosine kinase precursor							65.0	67.0	67.0					2																	112705072		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112705072A>G	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.685A>G	2.37:g.112705072A>G	ENSP00000295408:p.Ile229Val					MERTK_uc002thl.1_Missense_Mutation_p.I53V	p.I229V	NM_006343	NP_006334	Q12866	MERTK_HUMAN			4	807	+			229			Extracellular (Potential).|Ig-like C2-type 2.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.685A>G	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.918064	0.52546	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.10477	2.87;2.87;2.87	5.24	5.24	0.73138	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33834	U	0.004502	T	0.24890	0.0604	L	0.43152	1.355	0.49798	D	0.999822	D	0.69078	0.997	D	0.85130	0.997	T	0.00978	-1.1493	10	0.31617	T	0.26	-21.8733	15.0811	0.72117	1.0:0.0:0.0:0.0	.	229	Q12866	MERTK_HUMAN	V	229;229;53	ENSP00000295408:I229V;ENSP00000389152:I229V;ENSP00000387277:I53V	ENSP00000295408:I229V	I	+	1	0	MERTK	112421543	1.000000	0.71417	0.996000	0.52242	0.518000	0.34316	3.860000	0.55995	2.107000	0.64212	0.533000	0.62120	ATT		0.507	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2				19	56	0	0	0	0.007413	0	19	56		
IWS1	55677	broad.mit.edu	37	2	128255777	128255777	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:128255777C>A	ENST00000295321.4	-	6	1763	c.1504G>T	c.(1504-1506)Gaa>Taa	p.E502*	IWS1_ENST00000455721.2_Intron|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	502	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ACCTGTGTTTCACCTTTTTCT	0.299																																						uc002ton.2		NaN																	0				ovary(1)	1						c.(1504-1506)GAA>TAA		IWS1 homolog							173.0	177.0	176.0					2																	128255777		2203	4299	6502	SO:0001587	stop_gained	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128255777C>A	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1504G>T	2.37:g.128255777C>A	ENSP00000295321:p.Glu502*					IWS1_uc010yzl.1_Intron	p.E502*	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	6	1807	-	Colorectal(110;0.1)		502			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Nonsense_Mutation	SNP	ENST00000295321.4	37	c.1504G>T	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	40	7.986751	0.98596	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	.	.	.	5.69	5.69	0.88448	.	0.232569	0.44285	D	0.000472	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-19.2001	17.9972	0.89187	0.0:1.0:0.0:0.0	.	.	.	.	X	502;455	.	ENSP00000295321:E502X	E	-	1	0	IWS1	127972247	0.992000	0.36948	1.000000	0.80357	0.972000	0.66771	2.586000	0.46119	2.685000	0.91497	0.557000	0.71058	GAA		0.299	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2		NM_017969		23	61	1	0	2.39556e-15	0.00278	4.50243e-15	23	61		
SCN9A	6335	broad.mit.edu	37	2	167168028	167168028	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:167168028G>A	ENST00000409435.1	-	1	238	c.239C>T	c.(238-240)cCc>cTc	p.P80L	SCN9A_ENST00000409672.1_Missense_Mutation_p.P80L|SCN9A_ENST00000303354.6_Missense_Mutation_p.P80L|SCN9A_ENST00000375387.4_Missense_Mutation_p.P80L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	80					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCATAGTAGGGGTCCAAGTC	0.448																																						uc010fpl.2		NaN																	0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(238-240)CCC>CTC		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						64.0	71.0	69.0					2																	167168028		2124	4284	6408	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167168028G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.239C>T	2.37:g.167168028G>A	ENSP00000386330:p.Pro80Leu						p.P80L	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			2	580	-			80					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.239C>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	g	25.2	4.615948	0.87359	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97209	-4.27;-4.29;-4.29;-4.29	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000011	D	0.99074	0.9682	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.99278	1.0895	10	0.87932	D	0	.	18.8071	0.92041	0.0:0.0:1.0:0.0	.	80	E7EUN6	.	L	80	ENSP00000386306:P80L;ENSP00000364536:P80L;ENSP00000304748:P80L;ENSP00000386330:P80L	ENSP00000304748:P80L	P	-	2	0	SCN9A	166876274	1.000000	0.71417	0.993000	0.49108	0.945000	0.59286	9.835000	0.99442	2.536000	0.85505	0.650000	0.86243	CCC		0.448	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1		NM_002977		38	28	0	0	0	0.005524	0	38	28		
TTN	7273	broad.mit.edu	37	2	179431057	179431057	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:179431057C>A	ENST00000591111.1	-	276	75103	c.74879G>T	c.(74878-74880)gGa>gTa	p.G24960V	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G26601V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G17661V|TTN_ENST00000460472.2_Missense_Mutation_p.G17536V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G17728V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G24033V			Q8WZ42	TITIN_HUMAN	titin	24960	Ig-like 123.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACAACAATTCCTTTTCTTAA	0.438																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(72097-72099)GGA>GTA		titin isoform N2-A							151.0	153.0	152.0					2																	179431057		2012	4192	6204	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431057C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74879G>T	2.37:g.179431057C>A	ENSP00000465570:p.Gly24960Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G17728V|TTN_uc010zfi.1_Missense_Mutation_p.G17661V|TTN_uc010zfj.1_Missense_Mutation_p.G17536V	p.G24033V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	72322	-			24960					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.72098G>T		.	.	.	.	.	.	.	.	.	.	C	12.55	1.972510	0.34848	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.91	5.03	0.67393	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.51618	0.1685	N	0.25380	0.74	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.71414	0.973;0.973;0.973;0.961	T	0.57165	-0.7858	9	0.87932	D	0	.	15.4647	0.75390	0.0:0.9329:0.0:0.0671	.	17536;17661;17728;24960	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	24033;17536;17728;17661;17534	ENSP00000343764:G24033V;ENSP00000434586:G17536V;ENSP00000340554:G17728V;ENSP00000352154:G17661V	ENSP00000340554:G17728V	G	-	2	0	TTN	179139303	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.770000	0.85390	1.485000	0.48380	0.555000	0.69702	GGA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		55	127	1	0	2.73381e-35	0.00361	5.25953e-35	55	127		
TTN	7273	broad.mit.edu	37	2	179622543	179622543	+	Intron	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:179622543G>T	ENST00000591111.1	-	44	10528				TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000589042.1_Silent_p.I3468I|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Silent_p.I3422I|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGAGGCTGGATGAAGCTGG	0.458																																						uc010zfi.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10264-10266)ATC>ATA		titin isoform novex-1							110.0	110.0	110.0					2																	179622543		1868	4108	5976	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179622543G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10303+1167C>A	2.37:g.179622543G>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	p.I3422I	NM_133432	NP_597676	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		44	10490	-			3506					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.10266C>A																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		86	62	1	0	1.21457e-23	0.00361	2.30643e-23	86	62		
DNAH7	56171	broad.mit.edu	37	2	196698996	196698996	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:196698996C>A	ENST00000312428.6	-	48	9134	c.9034G>T	c.(9034-9036)Gtg>Ttg	p.V3012L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3012	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGTTTAATCACATAAAGACTA	0.383																																						uc002utj.3		NaN																	0				skin(10)|ovary(2)	12						c.(9034-9036)GTG>TTG		dynein, axonemal, heavy chain 7							127.0	117.0	120.0					2																	196698996		1869	4095	5964	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196698996C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9034G>T	2.37:g.196698996C>A	ENSP00000311273:p.Val3012Leu						p.V3012L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			48	9135	-			3012			AAA 5 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.9034G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	8.712	0.912383	0.17907	.	.	ENSG00000118997	ENST00000312428	T	0.26223	1.75	5.24	-3.91	0.04168	.	0.494559	0.20039	N	0.100560	T	0.32675	0.0837	M	0.88031	2.925	0.48236	D	0.999615	B	0.10296	0.003	B	0.17722	0.019	T	0.35847	-0.9772	10	0.51188	T	0.08	.	13.795	0.63166	0.0642:0.7085:0.1143:0.1129	.	3012	Q8WXX0	DYH7_HUMAN	L	3012	ENSP00000311273:V3012L	ENSP00000311273:V3012L	V	-	1	0	DNAH7	196407241	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-0.197000	0.09518	-0.650000	0.05423	-0.181000	0.13052	GTG		0.383	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		NM_018897		35	14	1	0	3.11337e-16	0.002836	5.86659e-16	35	14		
ABCA12	26154	broad.mit.edu	37	2	215875186	215875186	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:215875186A>G	ENST00000272895.7	-	18	2560	c.2341T>C	c.(2341-2343)Tgc>Cgc	p.C781R	ABCA12_ENST00000389661.4_Missense_Mutation_p.C463R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	781					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGGGAGAAGCAAAATGGTGCT	0.368																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2		NaN																	0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(2341-2343)TGC>CGC		ATP-binding cassette, sub-family A, member 12							69.0	68.0	68.0					2																	215875186		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215875186A>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2341T>C	2.37:g.215875186A>G	ENSP00000272895:p.Cys781Arg					ABCA12_uc002vev.2_Missense_Mutation_p.C463R|ABCA12_uc010zjn.1_5'UTR	p.C781R	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	18	2561	-		Renal(323;0.127)	781					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2341T>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	19.12	3.766750	0.69878	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.83914	-1.78;-1.78	5.38	5.38	0.77491	.	0.209198	0.36374	N	0.002631	D	0.90642	0.7065	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91818	0.5465	10	0.87932	D	0	.	15.6671	0.77238	1.0:0.0:0.0:0.0	.	781;463	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	R	781;463	ENSP00000272895:C781R;ENSP00000374312:C463R	ENSP00000272895:C781R	C	-	1	0	ABCA12	215583431	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.552000	0.82192	2.154000	0.67381	0.482000	0.46254	TGC		0.368	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1		NM_173076		14	11	0	0	0	0.00245	0	14	11		
HDLBP	3069	broad.mit.edu	37	2	242186257	242186257	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:242186257C>G	ENST00000391975.1	-	16	2087	c.1860G>C	c.(1858-1860)gaG>gaC	p.E620D	HDLBP_ENST00000391976.2_Missense_Mutation_p.E620D|HDLBP_ENST00000310931.4_Missense_Mutation_p.E620D|HDLBP_ENST00000427183.2_Missense_Mutation_p.E587D|HDLBP_ENST00000476807.1_5'Flank|AC104841.1_ENST00000578965.1_RNA	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	620	KH 7. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AATTGCTATTCTCTGCTGGAA	0.488																																						uc002waz.2		NaN																	0				breast(3)|skin(1)	4						c.(1858-1860)GAG>GAC		high density lipoprotein binding protein							184.0	180.0	181.0					2																	242186257		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242186257C>G		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1860G>C	2.37:g.242186257C>G	ENSP00000375836:p.Glu620Asp					HDLBP_uc002wba.2_Missense_Mutation_p.E620D|HDLBP_uc002wbb.2_Missense_Mutation_p.E572D	p.E620D	NM_203346	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	16	2088	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	620			KH 7.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.1860G>C	CCDS2547.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.28|11.28|11.28	1.591717|1.591717|1.591717	0.28357|0.28357|0.28357	.|.|.	.|.|.	ENSG00000115677|ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931|ENST00000373292|ENST00000427487	T;T;T;T;T|T|.	0.28895|0.33654|.	1.59;1.59;1.59;1.59;1.59|1.4|.	6.16|6.16|6.16	-1.98|-1.98|-1.98	0.07480|0.07480|0.07480	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.|.	0.045597|0.045597|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|T|T	0.46698|0.46698|0.46698	0.1406|0.1406|0.1406	L|L|L	0.33137|0.33137|0.33137	0.985|0.985|0.985	0.53005|0.53005|0.53005	D|D|D	0.999969|0.999969|0.999969	P;B|.|.	0.44309|.|.	0.832;0.438|.|.	P;P|.|.	0.53518|.|.	0.728;0.633|.|.	T|T|T	0.30794|0.30794|0.30794	-0.9966|-0.9966|-0.9966	10|8|5	0.54805|0.29301|.	T|T|.	0.06|0.29|.	-29.3364|-29.3364|-29.3364	8.6565|8.6565|8.6565	0.34066|0.34066|0.34066	0.0:0.5028:0.097:0.4002|0.0:0.5028:0.097:0.4002|0.0:0.5028:0.097:0.4002	.|.|.	587;620|.|.	E7EM71;Q00341|.|.	.;VIGLN_HUMAN|.|.	D|Q|T	620;620;620;587;129|429|8	ENSP00000375836:E620D;ENSP00000375837:E620D;ENSP00000312042:E620D;ENSP00000399139:E587D;ENSP00000388876:E129D|ENSP00000362389:E429Q|.	ENSP00000312042:E620D|ENSP00000362389:E429Q|.	E|E|R	-|-|-	3|1|2	2|0|0	HDLBP|HDLBP|HDLBP	241834930|241834930|241834930	0.973000|0.973000|0.973000	0.33851|0.33851|0.33851	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.016000|0.016000|0.016000	0.09150|0.09150|0.09150	0.214000|0.214000|0.214000	0.17541|0.17541|0.17541	-0.237000|-0.237000|-0.237000	0.09739|0.09739|0.09739	-0.157000|-0.157000|-0.157000	0.13467|0.13467|0.13467	GAG|GAA|AGA		0.488	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5		NM_203346		61	144	0	0	0	0.00361	0	61	144		
TGM6	343641	broad.mit.edu	37	20	2377244	2377244	+	Nonsense_Mutation	SNP	C	C	T	rs543298933		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:2377244C>T	ENST00000202625.2	+	4	578	c.517C>T	c.(517-519)Cga>Tga	p.R173*	TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Nonsense_Mutation_p.R173*	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	173					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GAAGCACATACGAGCCCAGGG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		19405	0.0		0.0	False		,,,				2504	0.001					uc002wfy.1		NaN																	0				ovary(3)|skin(1)	4						c.(517-519)CGA>TGA		transglutaminase 6	L-Glutamine(DB00130)						81.0	74.0	76.0					20																	2377244		2203	4300	6503	SO:0001587	stop_gained	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2377244C>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.517C>T	20.37:g.2377244C>T	ENSP00000202625:p.Arg173*					TGM6_uc010gal.1_Nonsense_Mutation_p.R173*	p.R173*	NM_198994	NP_945345	O95932	TGM3L_HUMAN			4	578	+			173					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Nonsense_Mutation	SNP	ENST00000202625.2	37	c.517C>T	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	37	6.122557	0.97300	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	.	.	.	5.08	4.13	0.48395	.	0.459999	0.22492	N	0.059348	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-9.7187	7.3845	0.26874	0.0:0.743:0.1675:0.0895	.	.	.	.	X	173	.	ENSP00000202625:R173X	R	+	1	2	TGM6	2325244	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.742000	0.04850	1.368000	0.46115	0.655000	0.94253	CGA		0.612	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2		NM_198994		7	39	0	0	0	0.001984	0	7	39		
CDS2	8760	broad.mit.edu	37	20	5170443	5170443	+	Silent	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:5170443G>C	ENST00000460006.1	+	12	1471	c.1164G>C	c.(1162-1164)ctG>ctC	p.L388L	CDS2_ENST00000535100.1_Silent_p.L158L|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Silent_p.L268L	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	388					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GCCAGTATCTGATGGCCACCT	0.468																																						uc002wls.2		NaN																	0					0						c.(1162-1164)CTG>CTC		phosphatidate cytidylyltransferase 2							215.0	189.0	198.0					20																	5170443		2203	4300	6503	SO:0001819	synonymous_variant	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5170443G>C	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.1164G>C	20.37:g.5170443G>C						CDS2_uc010zqt.1_RNA|CDS2_uc002wlu.2_Nonstop_Mutation_p.*340S|CDS2_uc010zqu.1_Silent_p.L268L|CDS2_uc002wlv.2_Silent_p.L290L|CDS2_uc010zqv.1_Silent_p.L158L	p.L388L	NM_003818	NP_003809	O95674	CDS2_HUMAN			12	1421	+			388					B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Silent	SNP	ENST00000460006.1	37	c.1164G>C	CCDS13088.1																																																																																				0.468	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2				45	157	0	0	0	0.003214	0	45	157		
HAO1	54363	broad.mit.edu	37	20	7866353	7866353	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:7866353C>G	ENST00000378789.3	-	6	1023	c.972G>C	c.(970-972)caG>caC	p.Q324H		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	324	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTCCAGTTACCTGGAAAGCTA	0.428																																						uc002wmw.1		NaN																	0				ovary(3)	3						c.(970-972)CAG>CAC		hydroxyacid oxidase 1							89.0	91.0	90.0					20																	7866353		2203	4300	6503	SO:0001630	splice_region_variant	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7866353C>G	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.972+1G>C	20.37:g.7866353C>G						HAO1_uc010gbu.2_Missense_Mutation_p.Q324H	p.Q324H	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			6	996	-			324			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.972G>C	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482723	0.63962	.	.	ENSG00000101323	ENST00000378789	T	0.30182	1.54	5.84	5.84	0.93424	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.098662	0.64402	D	0.000001	T	0.32823	0.0842	L	0.41573	1.285	0.80722	D	1	B;B	0.30605	0.287;0.287	B;B	0.40636	0.335;0.335	T	0.05954	-1.0854	9	.	.	.	-10.0292	13.7745	0.63046	0.0:0.921:0.0:0.079	.	324;324	A8K058;Q9UJM8	.;HAOX1_HUMAN	H	324	ENSP00000368066:Q324H	.	Q	-	3	2	HAO1	7814353	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.775000	0.55349	2.774000	0.95407	0.484000	0.47621	CAG		0.428	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			Missense_Mutation	77	98	0	0	0	0.00361	0	77	98		
PAK7	57144	broad.mit.edu	37	20	9561234	9561234	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:9561234G>C	ENST00000378429.3	-	5	1094	c.548C>G	c.(547-549)tCt>tGt	p.S183C	RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000353224.5_Missense_Mutation_p.S183C|PAK7_ENST00000378423.1_Missense_Mutation_p.S183C	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	183	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTTCACCTCAGAATAGTAGGC	0.458																																						uc002wnl.2		NaN																	0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(547-549)TCT>TGT		p21-activated kinase 7							130.0	126.0	127.0					20																	9561234		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561234G>C	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.548C>G	20.37:g.9561234G>C	ENSP00000367686:p.Ser183Cys					PAK7_uc002wnk.2_Missense_Mutation_p.S183C|PAK7_uc002wnj.2_Missense_Mutation_p.S183C|PAK7_uc010gby.1_Missense_Mutation_p.S183C	p.S183C	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1093	-			183			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.548C>G	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.543577	0.45280	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.45668	0.89;0.89;0.89	5.55	5.55	0.83447	.	0.270585	0.44285	D	0.000475	T	0.27832	0.0685	N	0.22421	0.69	0.30388	N	0.781319	B;P	0.34699	0.07;0.464	B;B	0.30105	0.111;0.087	T	0.19614	-1.0300	9	.	.	.	.	13.7685	0.63010	0.0731:0.0:0.9269:0.0	.	183;183	B0AZM9;Q9P286	.;PAK7_HUMAN	C	183;183;183;131	ENSP00000367686:S183C;ENSP00000322957:S183C;ENSP00000367679:S183C	.	S	-	2	0	PAK7	9509234	1.000000	0.71417	0.985000	0.45067	0.660000	0.38997	5.974000	0.70465	2.631000	0.89168	0.544000	0.68410	TCT		0.458	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1				70	102	0	0	0	0.00361	0	70	102		
FLRT3	23767	broad.mit.edu	37	20	14307438	14307438	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:14307438C>T	ENST00000378053.3	-	2	971	c.715G>A	c.(715-717)Gct>Act	p.A239T	FLRT3_ENST00000341420.4_Missense_Mutation_p.A239T|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	239					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ACTGGTGCAGCAGTCAGGGAA	0.438																																						uc002wov.1		NaN																	0				kidney(1)	1						c.(715-717)GCT>ACT		fibronectin leucine rich transmembrane protein 3							50.0	50.0	50.0					20																	14307438		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307438C>T	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.715G>A	20.37:g.14307438C>T	ENSP00000367292:p.Ala239Thr					MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.A239T	p.A239T	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	1182	-		Colorectal(1;0.0464)	239			Extracellular (Potential).|LRR 8.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.715G>A	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	C	4.411	0.075968	0.08485	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.02301	4.35;4.35	6.01	6.01	0.97437	.	0.139877	0.48286	D	0.000182	T	0.01523	0.0049	N	0.03999	-0.3	0.41537	D	0.988495	B	0.18310	0.027	B	0.14578	0.011	T	0.63808	-0.6553	10	0.15066	T	0.55	-12.2115	15.2612	0.73625	0.1402:0.8598:0.0:0.0	.	239	Q9NZU0	FLRT3_HUMAN	T	239	ENSP00000367292:A239T;ENSP00000339912:A239T	ENSP00000339912:A239T	A	-	1	0	FLRT3	14255438	0.948000	0.32251	1.000000	0.80357	0.992000	0.81027	1.927000	0.40094	2.861000	0.98227	0.650000	0.86243	GCT		0.438	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1		NM_013281		18	36	0	0	0	0.007413	0	18	36		
PLAGL2	5326	broad.mit.edu	37	20	30784504	30784504	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:30784504G>T	ENST00000246229.4	-	3	1506	c.1242C>A	c.(1240-1242)ttC>ttA	p.F414L		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	414					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTAGGTGGGAGAAGTCCACAT	0.642																																					Colon(163;15 1893 11280 16306 47518)	uc002wxn.2		NaN																	0				ovary(1)|skin(1)	2						c.(1240-1242)TTC>TTA		pleiomorphic adenoma gene-like 2							28.0	29.0	29.0					20																	30784504		2202	4300	6502	SO:0001583	missense	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30784504G>T		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1242C>A	20.37:g.30784504G>T	ENSP00000246229:p.Phe414Leu						p.F414L	NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	1459	-			414					A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	c.1242C>A	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	G	8.716	0.913166	0.17907	.	.	ENSG00000126003	ENST00000246229	T	0.06068	3.35	4.99	1.75	0.24633	.	0.000000	0.85682	D	0.000000	T	0.03390	0.0098	N	0.20845	0.615	0.49582	D	0.999805	B	0.20780	0.048	B	0.19666	0.026	T	0.41484	-0.9506	10	0.08837	T	0.75	.	7.389	0.26899	0.4178:0.0:0.5822:0.0	.	414	Q9UPG8	PLAL2_HUMAN	L	414	ENSP00000246229:F414L	ENSP00000246229:F414L	F	-	3	2	PLAGL2	30248165	0.955000	0.32602	1.000000	0.80357	0.996000	0.88848	0.088000	0.14979	0.677000	0.31305	0.650000	0.86243	TTC		0.642	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2		NM_002657		14	16	1	0	0.000151284	0.001855	0.0002634	14	16		
NCOA6	23054	broad.mit.edu	37	20	33345756	33345756	+	Silent	SNP	T	T	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:33345756T>C	ENST00000374796.2	-	8	3365	c.795A>G	c.(793-795)caA>caG	p.Q265Q	NCOA6_ENST00000359003.2_Silent_p.Q265Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	265	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q265Q(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gttgttgttgttgctgctgct	0.537																																						uc002xav.2		NaN																	1	Substitution - coding silent(1)		central_nervous_system(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(793-795)CAA>CAG		nuclear receptor coactivator 6							62.0	52.0	55.0					20																	33345756		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345756T>C	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.795A>G	20.37:g.33345756T>C						NCOA6_uc002xaw.2_Silent_p.Q265Q|NCOA6_uc010gew.1_Silent_p.Q222Q	p.Q265Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			8	3366	-			265			TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.795A>G	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2		NM_014071		4	63	0	0	0	0.000602	0	4	63		
KCNQ2	3785	broad.mit.edu	37	20	62065242	62065242	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:62065242G>C	ENST00000359125.2	-	8	1212	c.1038C>G	c.(1036-1038)ttC>ttG	p.F346L	KCNQ2_ENST00000344425.5_Missense_Mutation_p.F346L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.F346L|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000370224.1_Missense_Mutation_p.F346L|KCNQ2_ENST00000357249.2_Missense_Mutation_p.F346L|KCNQ2_ENST00000354587.3_Missense_Mutation_p.F346L|KCNQ2_ENST00000344462.4_Missense_Mutation_p.F346L|KCNQ2_ENST00000359689.1_Missense_Mutation_p.F346L	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	346					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGGTGGCGTAGAATCTCCAGG	0.692																																						uc002yey.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1036-1038)TTC>TTG		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						109.0	88.0	95.0					20																	62065242		2203	4300	6503	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62065242G>C	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1038C>G	20.37:g.62065242G>C	ENSP00000352035:p.Phe346Leu					KCNQ2_uc002yez.1_Missense_Mutation_p.F346L|KCNQ2_uc002yfa.1_Missense_Mutation_p.F346L|KCNQ2_uc002yfb.1_Missense_Mutation_p.F346L|KCNQ2_uc011aax.1_Missense_Mutation_p.F346L|KCNQ2_uc002yfc.1_Missense_Mutation_p.F346L	p.F346L	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		8	1215	-	all_cancers(38;1.24e-11)		346			Cytoplasmic (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.1038C>G	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045863	0.36085	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.99032	-5.04;-5.22;-5.22;-4.99;-5.23;-5.06;-5.05;-5.2;-4.99;-5.07;-5.35;-4.98	4.93	4.93	0.64822	.	0.078555	0.52532	D	0.000068	D	0.95790	0.8630	N	0.16743	0.435	0.44194	D	0.99701	B;B;P;P;P;P	0.46327	0.382;0.0;0.876;0.798;0.51;0.696	B;B;B;B;B;B	0.43123	0.091;0.001;0.409;0.409;0.21;0.232	D	0.93988	0.7264	10	0.22706	T	0.39	-20.1599	8.558	0.33494	0.2194:0.0:0.7806:0.0	.	346;346;346;346;346;346	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	L	346	ENSP00000349789:F346L;ENSP00000352035:F346L;ENSP00000359246:F346L;ENSP00000346601:F346L;ENSP00000352718:F346L;ENSP00000399612:F346L;ENSP00000353668:F346L;ENSP00000339611:F346L;ENSP00000359244:F346L;ENSP00000359242:F346L;ENSP00000359241:F346L;ENSP00000345523:F346L	ENSP00000345523:F346L	F	-	3	2	KCNQ2	61535686	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.612000	0.36889	2.305000	0.77605	0.655000	0.94253	TTC		0.692	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1		NM_172109		10	51	0	0	0	0.006214	0	10	51		
IFNAR1	3454	broad.mit.edu	37	21	34721714	34721714	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr21:34721714C>G	ENST00000270139.3	+	8	1160	c.1008C>G	c.(1006-1008)gtC>gtG	p.V336V	IFNAR1_ENST00000442357.2_Silent_p.V336V|IFNAR1_ENST00000416947.2_Silent_p.V267V	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	336	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	TTCCTCCAGTCTTTAACATTA	0.343																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	uc002yrn.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1006-1008)GTC>GTG		interferon-alpha receptor 1 precursor	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						51.0	51.0	51.0					21																	34721714		2203	4300	6503	SO:0001819	synonymous_variant	3454				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity	g.chr21:34721714C>G		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1008C>G	21.37:g.34721714C>G						IFNAR1_uc011adv.1_Silent_p.V267V	p.V336V	NM_000629	NP_000620	P17181	INAR1_HUMAN			8	1155	+			336			Fibronectin type-III 3.|Extracellular (Potential).		B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Silent	SNP	ENST00000270139.3	37	c.1008C>G	CCDS13624.1																																																																																				0.343	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4				12	20	0	0	0	0.000978	0	12	20		
ITSN1	6453	broad.mit.edu	37	21	35144562	35144562	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr21:35144562G>C	ENST00000381318.3	+	12	1528	c.1240G>C	c.(1240-1242)Gaa>Caa	p.E414Q	ITSN1_ENST00000381291.4_Missense_Mutation_p.E414Q|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.E414Q|ITSN1_ENST00000399349.1_Missense_Mutation_p.E414Q|ITSN1_ENST00000437442.2_Missense_Mutation_p.E414Q|ITSN1_ENST00000379960.5_Missense_Mutation_p.E414Q|ITSN1_ENST00000399355.2_Missense_Mutation_p.E414Q|ITSN1_ENST00000381285.4_Missense_Mutation_p.E414Q|ITSN1_ENST00000399326.3_Missense_Mutation_p.E414Q|ITSN1_ENST00000399353.1_Missense_Mutation_p.E377Q|ITSN1_ENST00000399352.1_Missense_Mutation_p.E414Q|ITSN1_ENST00000399338.4_Missense_Mutation_p.E414Q|ITSN1_ENST00000488166.1_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	414	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						gaagcaactggaaaagcagcg	0.602																																						uc002yta.1		NaN																	0				ovary(3)|skin(1)	4						c.(1240-1242)GAA>CAA		intersectin 1 isoform ITSN-l							58.0	62.0	61.0					21																	35144562		2202	4299	6501	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35144562G>C	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1240G>C	21.37:g.35144562G>C	ENSP00000370719:p.Glu414Gln					DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.E414Q|ITSN1_uc010gmg.2_Missense_Mutation_p.E377Q|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.E414Q|ITSN1_uc010gmi.2_Missense_Mutation_p.E377Q|ITSN1_uc010gmj.2_Missense_Mutation_p.E298Q|ITSN1_uc002ysy.2_Missense_Mutation_p.E414Q|ITSN1_uc002ysx.2_Missense_Mutation_p.E377Q|ITSN1_uc002ytb.1_Missense_Mutation_p.E414Q|ITSN1_uc002ytc.1_Missense_Mutation_p.E414Q|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.E377Q|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.E414Q|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.E348Q	p.E414Q	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			12	1508	+			414			Potential.|KLERQ.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.1240G>C	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430039	0.62844	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T;T	0.50277	1.56;0.75;0.81;0.75;1.56;1.56;0.79;1.56;1.42;1.56;1.56;1.56;1.56	4.99	4.99	0.66335	.	0.107759	0.64402	D	0.000013	T	0.60287	0.2257	L	0.35723	1.085	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.76494	0.993;0.993;0.993;0.993;0.996;0.999;0.993;0.993;0.996;0.993	D;D;D;D;D;D;D;D;D;D	0.80764	0.979;0.979;0.979;0.979;0.991;0.994;0.979;0.979;0.991;0.979	T	0.58526	-0.7621	10	0.39692	T	0.17	.	18.6389	0.91387	0.0:0.0:1.0:0.0	.	377;377;377;414;414;414;414;414;414;377	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	Q	377;414;414;414;414;414;414;414;414;414;354;414;414;414;414	ENSP00000382290:E377Q;ENSP00000370719:E414Q;ENSP00000370691:E414Q;ENSP00000370685:E414Q;ENSP00000382301:E414Q;ENSP00000382289:E414Q;ENSP00000382292:E414Q;ENSP00000382286:E414Q;ENSP00000370683:E354Q;ENSP00000382275:E414Q;ENSP00000387377:E414Q;ENSP00000382265:E414Q;ENSP00000369294:E414Q	ENSP00000369294:E414Q	E	+	1	0	ITSN1	34066432	1.000000	0.71417	0.938000	0.37757	0.881000	0.50899	9.568000	0.98166	2.466000	0.83321	0.455000	0.32223	GAA		0.602	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4		NM_003024		6	1	0	0	0	0.001168	0	6	1		
PFKL	5211	broad.mit.edu	37	21	45726580	45726580	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr21:45726580C>G	ENST00000349048.4	+	2	157	c.102C>G	c.(100-102)gtC>gtG	p.V34V	PFKL_ENST00000403390.1_Silent_p.V81V|PFKL_ENST00000496824.1_3'UTR	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	34	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		ACGCTGCTGTCCGGGCTGTGA	0.602																																						uc002zel.2		NaN																	0					0						c.(100-102)GTC>GTG		liver phosphofructokinase							133.0	90.0	105.0					21																	45726580		2201	4297	6498	SO:0001819	synonymous_variant	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45726580C>G		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.102C>G	21.37:g.45726580C>G						PFKL_uc002zek.2_Silent_p.V81V|PFKL_uc011afd.1_Silent_p.V81V	p.V34V	NM_002626	NP_002617	P17858	K6PL_HUMAN		Colorectal(79;0.0811)	2	161	+			34					Q96A64|Q96IH4|Q9BR91	Silent	SNP	ENST00000349048.4	37	c.102C>G	CCDS33582.1																																																																																				0.602	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1				7	8	0	0	0	0.00308	0	7	8		
GNB1L	54584	broad.mit.edu	37	22	19799811	19799811	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:19799811G>A	ENST00000329517.6	-	5	650	c.414C>T	c.(412-414)gaC>gaT	p.D138D	GNB1L_ENST00000405009.1_Silent_p.D138D|GNB1L_ENST00000403325.1_Silent_p.D138D|GNB1L_ENST00000460402.1_5'UTR	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	138					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CTCTCACCTCGTCGCTGCCCC	0.647																																						uc002zqe.1		NaN																	0				breast(1)	1						c.(412-414)GAC>GAT		guanine nucleotide binding protein							29.0	27.0	28.0					22																	19799811		2203	4299	6502	SO:0001819	synonymous_variant	54584				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19799811G>A	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.414C>T	22.37:g.19799811G>A						GNB1L_uc002zqd.1_Translation_Start_Site|GNB1L_uc002zqf.1_Silent_p.D138D	p.D138D	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN			4	808	-	Colorectal(54;0.0993)		138					Q9H2S2|Q9H4M4	Silent	SNP	ENST00000329517.6	37	c.414C>T	CCDS13768.1																																																																																				0.647	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1				10	15	0	0	0	0.001368	0	10	15		
PPM1F	9647	broad.mit.edu	37	22	22280017	22280017	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:22280017C>T	ENST00000263212.5	-	7	1015	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	PPM1F_ENST00000407142.1_Missense_Mutation_p.E136K|PPM1F_ENST00000397495.4_Missense_Mutation_p.E304K|PPM1F_ENST00000538191.1_Missense_Mutation_p.E200K	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	304					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CCCAATGCTTCAATGCGCGCC	0.622																																						uc002zvp.1		NaN																	0				ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5						c.(910-912)GAA>AAA		protein phosphatase 1F							64.0	51.0	55.0					22																	22280017		2203	4300	6503	SO:0001583	missense	9647				apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr22:22280017C>T	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.910G>A	22.37:g.22280017C>T	ENSP00000263212:p.Glu304Lys					PPM1F_uc011aik.1_Missense_Mutation_p.E200K|PPM1F_uc002zvq.2_Missense_Mutation_p.E304K	p.E304K	NM_014634	NP_055449	P49593	PPM1F_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	7	1024	-	Colorectal(54;0.105)		304					A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	c.910G>A	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470489	0.84533	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191;ENST00000397495	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.11	4.07	0.47477	Protein phosphatase 2C-like (5);	0.051660	0.85682	D	0.000000	T	0.34861	0.0912	L	0.60455	1.87	0.80722	D	1	P;P;D	0.55385	0.553;0.935;0.971	P;P;P	0.53518	0.522;0.728;0.728	T	0.19943	-1.0290	10	0.59425	D	0.04	-17.5888	15.5177	0.75837	0.0:0.8613:0.1387:0.0	.	200;304;304	B7Z2C3;A8MX49;P49593	.;.;PPM1F_HUMAN	K	304;136;136;200;304	ENSP00000263212:E304K;ENSP00000384930:E136K;ENSP00000439915:E200K;ENSP00000380632:E304K	ENSP00000263212:E304K	E	-	1	0	PPM1F	20610017	1.000000	0.71417	0.586000	0.28679	0.365000	0.29674	5.662000	0.68032	1.351000	0.45789	0.655000	0.94253	GAA		0.622	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2		NM_014634		14	22	0	0	0	0.00499	0	14	22		
RASL10A	10633	broad.mit.edu	37	22	29708459	29708459	+	IGR	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:29708459G>A	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000406549.3_Silent_p.P446P|GAS2L1_ENST00000407647.2_3'UTR|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						CAGTCACCCCGAGGGCTGAGC	0.637																																						uc003afa.1		NaN																	0					0						c.(2017-2019)CCG>CCA		growth arrest-specific 2 like 1 isoform a							16.0	19.0	18.0					22																	29708459		1993	4160	6153	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29708459G>A	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29708459G>A						GAS2L1_uc010gvm.1_Silent_p.P446P|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Silent_p.P673P|GAS2L1_uc003afd.1_3'UTR|GAS2L1_uc003afe.1_3'UTR	p.P673P	NM_152236	NP_689422	Q99501	GA2L1_HUMAN			7	2218	+			673					Q49AU5|Q6PI03	Silent	SNP	ENST00000216101.6	37	c.2019G>A	CCDS13854.1																																																																																				0.637	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1				5	18	0	0	0	0.000602	0	5	18		
EIF4ENIF1	56478	broad.mit.edu	37	22	31838041	31838041	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:31838041G>T	ENST00000397525.1	-	17	2493	c.2270C>A	c.(2269-2271)tCc>tAc	p.S757Y	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.S733Y|EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.S757Y|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.S412Y|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.S583Y	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	757						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGACAGTTTGGAATTTGTAGT	0.468																																						uc003akz.1		NaN																	0				ovary(1)	1						c.(2269-2271)TCC>TAC		eukaryotic translation initiation factor 4E							177.0	179.0	179.0					22																	31838041		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31838041G>T	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2270C>A	22.37:g.31838041G>T	ENSP00000380659:p.Ser757Tyr					EIF4ENIF1_uc003akx.1_Missense_Mutation_p.S412Y|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.S437Y|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.S757Y|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.S583Y|EIF4ENIF1_uc003akw.1_Missense_Mutation_p.S247Y	p.S757Y	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN			17	2434	-			757					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.2270C>A	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	9.595	1.127133	0.20959	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	6.17	5.16	0.70880	.	0.467900	0.26180	N	0.025869	T	0.22781	0.0550	N	0.14661	0.345	0.19300	N	0.999973	B;B;P;B	0.36660	0.371;0.371;0.564;0.042	B;B;B;B	0.36885	0.235;0.119;0.21;0.037	T	0.16689	-1.0394	9	0.72032	D	0.01	-0.6335	9.4473	0.38706	0.0709:0.0:0.7866:0.1425	.	583;757;582;733	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	Y	583;757;757;733;412	.	ENSP00000328103:S757Y	S	-	2	0	EIF4ENIF1	30168041	1.000000	0.71417	0.640000	0.29408	0.012000	0.07955	4.719000	0.61937	1.627000	0.50400	0.655000	0.94253	TCC		0.468	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1		NM_019843		42	113	1	0	5.48756e-27	0.002852	1.05298e-26	42	113		
FOXRED2	80020	broad.mit.edu	37	22	36892254	36892254	+	Splice_Site	SNP	T	T	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:36892254T>G	ENST00000397224.4	-	7	1477	c.1384A>C	c.(1384-1386)Aat>Cat	p.N462H	FOXRED2_ENST00000366463.3_Splice_Site_p.N14H|FOXRED2_ENST00000216187.6_Splice_Site_p.N462H|FOXRED2_ENST00000397223.4_Splice_Site_p.N462H	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	462					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCCGTGGAATTCCTGGGAGAA	0.617																																						uc003apn.3		NaN																	0				lung(1)|kidney(1)	2						c.(1384-1386)AAT>CAT		FAD-dependent oxidoreductase domain containing 2							49.0	48.0	48.0					22																	36892254		2203	4300	6503	SO:0001630	splice_region_variant	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36892254T>G	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1383-1A>C	22.37:g.36892254T>G						FOXRED2_uc003apm.3_Missense_Mutation_p.N14H|FOXRED2_uc003apo.3_Missense_Mutation_p.N462H|FOXRED2_uc003app.3_Missense_Mutation_p.N462H	p.N462H	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN			6	1492	-			462					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	c.1384A>C	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.752696	0.49362	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000366463;ENST00000397223	T;T;T;T	0.49139	2.38;2.38;0.79;2.38	5.37	4.34	0.51931	.	0.511318	0.21031	N	0.081356	T	0.56140	0.1965	M	0.71581	2.175	0.37309	D	0.909057	D	0.55385	0.971	P	0.52856	0.711	T	0.63274	-0.6674	10	0.66056	D	0.02	-13.8146	8.4755	0.33009	0.0:0.1499:0.0:0.8501	.	462	Q8IWF2	FXRD2_HUMAN	H	462;462;14;462	ENSP00000380401:N462H;ENSP00000216187:N462H;ENSP00000382543:N14H;ENSP00000380400:N462H	ENSP00000216187:N462H	N	-	1	0	FOXRED2	35222200	1.000000	0.71417	0.988000	0.46212	0.385000	0.30292	2.918000	0.48829	0.893000	0.36288	0.529000	0.55759	AAT		0.617	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2		NM_024955	Missense_Mutation	14	49	0	0	0	0.00245	0	14	49		
EP300	2033	broad.mit.edu	37	22	41545045	41545045	+	Missense_Mutation	SNP	A	A	G	rs370478867		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:41545045A>G	ENST00000263253.7	+	13	3464	c.2245A>G	c.(2245-2247)Atg>Gtg	p.M749V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	749					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTTTCAGCCTATGGGCTATGG	0.393			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(2245-2247)ATG>GTG		E1A binding protein p300		A	VAL/MET	1,4405	2.1+/-5.4	0,1,2202	94.0	85.0	88.0		2245	4.6	1.0	22		88	0,8600		0,0,4300	no	missense	EP300	NM_001429.3	21	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	749/2415	41545045	1,13005	2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41545045A>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2245A>G	22.37:g.41545045A>G	ENSP00000263253:p.Met749Val						p.M749V	NM_001429	NP_001420	Q09472	EP300_HUMAN			13	2640	+			749					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.2245A>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.655600	0.47467	2.27E-4	0.0	ENSG00000100393	ENST00000263253	D	0.83335	-1.71	5.72	4.62	0.57501	.	0.000000	0.56097	D	0.000038	T	0.77980	0.4212	L	0.34521	1.04	0.35187	D	0.773031	B	0.24823	0.112	B	0.33690	0.168	T	0.80754	-0.1241	10	0.41790	T	0.15	-9.7194	14.1731	0.65522	0.8673:0.1327:0.0:0.0	.	749	Q09472	EP300_HUMAN	V	749	ENSP00000263253:M749V	ENSP00000263253:M749V	M	+	1	0	EP300	39874991	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.330000	0.52068	2.194000	0.70268	0.533000	0.62120	ATG		0.393	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		15	34	0	0	0	0.003163	0	15	34		
CCDC134	79879	broad.mit.edu	37	22	42209302	42209302	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:42209302C>T	ENST00000255784.5	+	5	449	c.345C>T	c.(343-345)ttC>ttT	p.F115F	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	115						extracellular region (GO:0005576)|membrane (GO:0016020)				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						CGGCCTTCTTCGGCGATGTGG	0.592																																						uc003bbh.1		NaN																	0				ovary(2)	2						c.(343-345)TTC>TTT		coiled-coil domain containing 134 precursor							125.0	109.0	114.0					22																	42209302		2203	4300	6503	SO:0001819	synonymous_variant	79879					extracellular region		g.chr22:42209302C>T	AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.345C>T	22.37:g.42209302C>T						WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|CCDC134_uc011apg.1_Intron	p.F115F	NM_024821	NP_079097	Q9H6E4	CC134_HUMAN			5	454	+			115						Silent	SNP	ENST00000255784.5	37	c.345C>T	CCDS33654.1																																																																																				0.592	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321964.1		NM_024821		28	83	0	0	0	0.002445	0	28	83		
CCR3	1232	broad.mit.edu	37	3	46306696	46306696	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:46306696A>G	ENST00000357422.2	+	4	590	c.47A>G	c.(46-48)tAc>tGc	p.Y16C	CCR3_ENST00000395940.2_Missense_Mutation_p.Y16C|CCR3_ENST00000545097.1_Missense_Mutation_p.Y37C|CCR3_ENST00000541018.1_Missense_Mutation_p.Y16C|CCR3_ENST00000395942.2_Missense_Mutation_p.Y16C			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	16					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		ACCACATCCTACTATGATGAC	0.478																																						uc003cpg.1		NaN																	0				ovary(3)|lung(3)|breast(1)|kidney(1)	8						c.(46-48)TAC>TGC		CC chemokine receptor 3 isoform 1							107.0	102.0	104.0					3																	46306696		2203	4300	6503	SO:0001583	missense	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46306696A>G	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.47A>G	3.37:g.46306696A>G	ENSP00000350003:p.Tyr16Cys					CCR3_uc003cpi.1_Missense_Mutation_p.Y16C|CCR3_uc003cpj.1_Missense_Mutation_p.Y16C|CCR3_uc003cpk.1_Missense_Mutation_p.Y37C|CCR3_uc010hjb.1_Missense_Mutation_p.Y34C|CCR3_uc003cpl.1_Missense_Mutation_p.Y49C	p.Y16C	NM_178329	NP_847899	P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	590	+			16			Extracellular (Potential).		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	c.47A>G	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.711225	0.48517	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000452454;ENST00000457243;ENST00000395942	T;T;T;T;T;T;T	0.76448	1.18;1.18;1.18;1.18;1.18;-1.02;1.18	5.65	-5.13	0.02884	.	1.072270	0.07353	N	0.882772	T	0.79488	0.4454	L	0.39898	1.24	0.09310	N	1	D;D;D;D	0.71674	0.996;0.989;0.998;0.996	D;P;P;P	0.64687	0.928;0.701;0.893;0.711	T	0.73649	-0.3916	10	0.66056	D	0.02	.	10.8329	0.46671	0.2587:0.079:0.0:0.6622	.	16;16;37;16	Q8TDP5;Q8TDP6;F5GWL6;P51677	.;.;.;CCR3_HUMAN	C	16;37;16;16;16;16;16	ENSP00000350003:Y16C;ENSP00000441600:Y37C;ENSP00000440097:Y16C;ENSP00000379271:Y16C;ENSP00000389336:Y16C;ENSP00000401822:Y16C;ENSP00000379273:Y16C	ENSP00000350003:Y16C	Y	+	2	0	CCR3	46281700	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.230000	0.17852	-0.552000	0.06167	-1.405000	0.01134	TAC		0.478	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2				19	21	0	0	0	0.002299	0	19	21		
CCR5	1234	broad.mit.edu	37	3	46414985	46414985	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:46414985A>G	ENST00000292303.4	+	2	738	c.592A>G	c.(592-594)Ata>Gta	p.I198V	RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000343801.4_Missense_Mutation_p.I198V|CCR5_ENST00000445772.1_Missense_Mutation_p.I198V	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	198					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GACATTAAAGATAGTCATCTT	0.438																																						uc003cpo.3		NaN																	0				lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(592-594)ATA>GTA		chemokine (C-C motif) receptor 5	Maraviroc(DB04835)						131.0	143.0	139.0					3																	46414985		2203	4295	6498	SO:0001583	missense	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46414985A>G		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.592A>G	3.37:g.46414985A>G	ENSP00000292303:p.Ile198Val					CCR5_uc010hjd.2_Missense_Mutation_p.I198V	p.I198V	NM_001100168	NP_001093638	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	3	714	+			198			Extracellular (Potential).		O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Missense_Mutation	SNP	ENST00000292303.4	37	c.592A>G	CCDS2739.1	.	.	.	.	.	.	.	.	.	.	A	6.841	0.524454	0.13066	.	.	ENSG00000160791	ENST00000343801;ENST00000400886;ENST00000292303;ENST00000445772	T;T;T	0.71698	-0.59;-0.59;-0.59	5.69	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.180426	0.36200	U	0.002729	T	0.60170	0.2248	L	0.33293	1	0.09310	N	1	B	0.14012	0.009	B	0.22601	0.04	T	0.53078	-0.8489	10	0.45353	T	0.12	.	11.4543	0.50171	0.9296:0.0:0.0704:0.0	.	198	P51681	CCR5_HUMAN	V	198;178;198;198	ENSP00000343985:I198V;ENSP00000292303:I198V;ENSP00000404881:I198V	ENSP00000292303:I198V	I	+	1	0	CCR5	46389989	0.070000	0.21116	0.117000	0.21633	0.044000	0.14063	3.622000	0.54217	0.976000	0.38417	0.459000	0.35465	ATA		0.438	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2		NM_000579		110	127	0	0	0	0.00361	0	110	127		
FLNB	2317	broad.mit.edu	37	3	58120443	58120443	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:58120443G>T	ENST00000295956.4	+	27	4780	c.4615G>T	c.(4615-4617)Gac>Tac	p.D1539Y	FLNB_ENST00000348383.5_Missense_Mutation_p.D1539Y|FLNB_ENST00000357272.4_Missense_Mutation_p.D1539Y|FLNB_ENST00000493452.1_Missense_Mutation_p.D1370Y|FLNB_ENST00000429972.2_Missense_Mutation_p.D1539Y|FLNB_ENST00000358537.3_Missense_Mutation_p.D1539Y|FLNB_ENST00000419752.2_Missense_Mutation_p.D1370Y|FLNB_ENST00000490882.1_Missense_Mutation_p.D1570Y	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1539					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCTACCTGTGGACTTTGCAAT	0.507																																						uc003djj.2		NaN																	0				breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(4615-4617)GAC>TAC		filamin B isoform 2							171.0	164.0	167.0					3																	58120443		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58120443G>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4615G>T	3.37:g.58120443G>T	ENSP00000295956:p.Asp1539Tyr					FLNB_uc010hne.2_Missense_Mutation_p.D1570Y|FLNB_uc003djk.2_Missense_Mutation_p.D1539Y|FLNB_uc010hnf.2_Missense_Mutation_p.D1539Y|FLNB_uc003djl.2_Missense_Mutation_p.D1370Y|FLNB_uc003djm.2_Missense_Mutation_p.D1370Y	p.D1539Y	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	27	4780	+			1539			Filamin 14.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.4615G>T	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617034	0.87359	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.68	5.68	0.88126	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.192011	0.56097	D	0.000036	D	0.84293	0.5440	N	0.14661	0.345	0.43069	D	0.994702	B;P;P;B;P;P	0.44986	0.348;0.847;0.816;0.0;0.821;0.821	B;P;P;B;P;P	0.59761	0.317;0.863;0.782;0.002;0.732;0.732	D	0.86392	0.1736	10	0.87932	D	0	.	13.052	0.58960	0.0734:0.0:0.9266:0.0	.	1539;1570;1370;1370;1539;1539	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	Y	1539;1570;1539;1539;1539;1539;1370;1370	ENSP00000295956:D1539Y;ENSP00000420213:D1570Y;ENSP00000351339:D1539Y;ENSP00000415599:D1539Y;ENSP00000232447:D1539Y;ENSP00000349819:D1539Y;ENSP00000418510:D1370Y;ENSP00000414532:D1370Y	ENSP00000295956:D1539Y	D	+	1	0	FLNB	58095483	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.662000	0.74426	2.669000	0.90835	0.563000	0.77884	GAC		0.507	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1		NM_001457		52	70	1	0	4.17463e-26	0.00361	7.98956e-26	52	70		
IQCB1	9657	broad.mit.edu	37	3	121507259	121507259	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:121507259G>A	ENST00000310864.6	-	12	1364	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	IQCB1_ENST00000349820.6_Missense_Mutation_p.R251W	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	384					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)	p.R384W(1)		NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCCATTTCCCGATAGTGTTTC	0.388																																						uc010hre.1		NaN																	1	Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(1)		0						c.(1150-1152)CGG>TGG		IQ motif containing B1 isoform a							228.0	220.0	223.0					3																	121507259		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121507259G>A	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1150C>T	3.37:g.121507259G>A	ENSP00000311505:p.Arg384Trp					IQCB1_uc003eek.2_Missense_Mutation_p.R251W|IQCB1_uc010hrf.1_RNA	p.R384W	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	12	1365	-			384					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.1150C>T	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188917	0.57909	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.72051	-0.62;-0.62	5.76	4.82	0.62117	.	0.520199	0.22469	N	0.059654	T	0.78291	0.4260	L	0.43152	1.355	0.36057	D	0.841201	D;D	0.89917	1.0;0.999	D;P	0.76575	0.988;0.804	T	0.82853	-0.0252	10	0.54805	T	0.06	-0.1691	13.2835	0.60230	0.0:0.0:0.7918:0.2082	.	384;251	Q15051;Q15051-2	IQCB1_HUMAN;.	W	384;251	ENSP00000311505:R384W;ENSP00000323756:R251W	ENSP00000311505:R384W	R	-	1	2	IQCB1	122989949	1.000000	0.71417	0.981000	0.43875	0.540000	0.34992	3.158000	0.50723	1.353000	0.45828	0.650000	0.86243	CGG		0.388	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1		NM_014642		50	211	0	0	0	0.00361	0	50	211		
SEMA5B	54437	broad.mit.edu	37	3	122646791	122646791	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:122646791G>C	ENST00000357599.3	-	8	1082	c.696C>G	c.(694-696)gaC>gaG	p.D232E	SEMA5B_ENST00000451055.2_Missense_Mutation_p.D286E|SEMA5B_ENST00000195173.4_Missense_Mutation_p.D232E|AC078794.1_ENST00000408284.1_RNA	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	232	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGTGGCGTGGGTCATAGGGGC	0.612																																						uc003efz.1		NaN																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(694-696)GAC>GAG		semaphorin 5B isoform 1							98.0	93.0	94.0					3																	122646791		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122646791G>C	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.696C>G	3.37:g.122646791G>C	ENSP00000350215:p.Asp232Glu					SEMA5B_uc011bju.1_Missense_Mutation_p.D174E|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.D232E|SEMA5B_uc010hro.1_Missense_Mutation_p.D174E|SEMA5B_uc010hrp.1_RNA	p.D232E	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	8	1000	-			232			Extracellular (Potential).|Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.696C>G	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	g	24.0	4.480036	0.84747	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.64	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.37376	0.1001	M	0.66297	2.02	0.47698	D	0.999499	D;D;D	0.63880	0.982;0.993;0.993	P;D;D	0.69307	0.889;0.963;0.963	T	0.13495	-1.0507	10	0.59425	D	0.04	.	11.8721	0.52527	0.0789:0.0:0.9211:0.0	.	174;232;232	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	E	232;232;174;286;232	ENSP00000350215:D232E;ENSP00000195173:D232E;ENSP00000389588:D286E;ENSP00000377208:D232E	ENSP00000195173:D232E	D	-	3	2	SEMA5B	124129481	1.000000	0.71417	0.999000	0.59377	0.771000	0.43674	2.592000	0.46171	1.628000	0.50416	0.651000	0.88453	GAC		0.612	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1		NM_001031702		13	87	0	0	0	0.001855	0	13	87		
DNAJC13	23317	broad.mit.edu	37	3	132185188	132185188	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:132185188G>C	ENST00000260818.6	+	19	2262	c.2014G>C	c.(2014-2016)Gag>Cag	p.E672Q	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	672					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCTCGTACCTGAGAAGGATGC	0.393																																						uc003eor.2		NaN																	0				ovary(1)|breast(1)	2						c.(2014-2016)GAG>CAG		DnaJ (Hsp40) homolog, subfamily C, member 13							107.0	104.0	105.0					3																	132185188		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132185188G>C	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2014G>C	3.37:g.132185188G>C	ENSP00000260818:p.Glu672Gln					DNAJC13_uc010htq.1_Missense_Mutation_p.E672Q	p.E672Q	NM_015268	NP_056083	O75165	DJC13_HUMAN			19	2079	+			672					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.2014G>C	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373367	0.61624	.	.	ENSG00000138246	ENST00000260818	T	0.33438	1.41	5.76	5.76	0.90799	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	N	0.16368	0.405	0.80722	D	1	B;B	0.30709	0.291;0.147	B;B	0.27076	0.076;0.021	T	0.03524	-1.1028	10	0.31617	T	0.26	.	18.7344	0.91749	0.0:0.0:1.0:0.0	.	672;672	A7E2Y5;O75165	.;DJC13_HUMAN	Q	672	ENSP00000260818:E672Q	ENSP00000260818:E672Q	E	+	1	0	DNAJC13	133667878	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	9.455000	0.97625	2.716000	0.92895	0.557000	0.71058	GAG		0.393	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2		NM_015268		17	63	0	0	0	0.007413	0	17	63		
XRN1	54464	broad.mit.edu	37	3	142151723	142151723	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:142151723C>G	ENST00000264951.4	-	2	205	c.88G>C	c.(88-90)Gac>Cac	p.D30H	XRN1_ENST00000463916.1_Missense_Mutation_p.D30H|XRN1_ENST00000465074.1_5'Flank|XRN1_ENST00000392981.2_Missense_Mutation_p.D30H|XRN1_ENST00000544157.1_5'UTR	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	30					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TACAAGTTGTCAAATTCAGGA	0.308																																						uc003eus.2		NaN																	0				ovary(3)	3						c.(88-90)GAC>CAC		5'-3' exoribonuclease 1 isoform a							48.0	48.0	48.0					3																	142151723		2203	4299	6502	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142151723C>G	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.88G>C	3.37:g.142151723C>G	ENSP00000264951:p.Asp30His					XRN1_uc003eut.2_Missense_Mutation_p.D30H|XRN1_uc003euu.2_Missense_Mutation_p.D30H|XRN1_uc003euw.2_Missense_Mutation_p.D30H|XRN1_uc011bnh.1_5'UTR	p.D30H	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			2	155	-			30					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.88G>C	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692584	0.88735	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916	T;T	0.69926	-0.44;-0.43	6.04	6.04	0.98038	Putative 5-3 exonuclease (1);	0.000000	0.85682	D	0.000000	D	0.86377	0.5918	M	0.89658	3.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87698	0.2558	10	0.87932	D	0	-16.7576	20.5792	0.99380	0.0:1.0:0.0:0.0	.	30;30;30	Q8IZH2-3;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	H	30	ENSP00000264951:D30H;ENSP00000376707:D30H	ENSP00000264951:D30H	D	-	1	0	XRN1	143634413	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.712000	0.84684	2.873000	0.98535	0.561000	0.74099	GAC		0.308	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2		NM_019001		10	45	0	0	0	0.006214	0	10	45		
GFM1	85476	broad.mit.edu	37	3	158363446	158363446	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:158363446C>T	ENST00000486715.1	+	2	467	c.110C>T	c.(109-111)tCa>tTa	p.S37L	GFM1_ENST00000264263.5_Missense_Mutation_p.S37L|GFM1_ENST00000478576.1_Missense_Mutation_p.S37L	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CGATGGTCTTCATCAGGGGTG	0.368																																						uc003fce.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(109-111)TCA>TTA		G elongation factor, mitochondrial 1 precursor							87.0	88.0	88.0					3																	158363446		2203	4300	6503	SO:0001583	missense	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158363446C>T	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.110C>T	3.37:g.158363446C>T	ENSP00000419038:p.Ser37Leu					GFM1_uc003fcd.2_Missense_Mutation_p.S37L|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_5'Flank	p.S37L	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		2	217	+			37						Missense_Mutation	SNP	ENST00000486715.1	37	c.110C>T	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591121	0.86851	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.72835	-0.1;-0.69;-0.09	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	N	0.08118	0	0.80722	D	1	P;P	0.41546	0.754;0.754	B;B	0.34489	0.184;0.114	T	0.64529	-0.6386	10	0.87932	D	0	0.3158	18.5405	0.91025	0.0:1.0:0.0:0.0	.	37;37	Q96RP9;C9IZ01	EFGM_HUMAN;.	L	37	ENSP00000419038:S37L;ENSP00000418755:S37L;ENSP00000264263:S37L	ENSP00000264263:S37L	S	+	2	0	GFM1	159846140	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.980000	0.76160	2.527000	0.85204	0.655000	0.94253	TCA		0.368	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1		NM_024996		22	65	0	0	0	0.002299	0	22	65		
SLC7A14	57709	broad.mit.edu	37	3	170216488	170216488	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:170216488C>T	ENST00000231706.5	-	4	1042	c.727G>A	c.(727-729)Gag>Aag	p.E243K	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	243					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.E243*(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AACTGGCCCTCCGCCCAGTAT	0.517																																						uc003fgz.2		NaN																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(727-729)GAG>AAG		solute carrier family 7 (cationic amino acid							71.0	68.0	69.0					3																	170216488		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170216488C>T	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.727G>A	3.37:g.170216488C>T	ENSP00000231706:p.Glu243Lys					CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.E243K	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		4	1043	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		243					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.727G>A	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929180	0.52759	.	.	ENSG00000013293	ENST00000231706	D	0.89415	-2.51	5.99	5.99	0.97316	Amino acid permease domain (1);	0.171146	0.50627	D	0.000102	D	0.87939	0.6304	L	0.49256	1.55	0.58432	D	0.999999	B	0.33413	0.411	B	0.37731	0.257	D	0.83674	0.0168	10	0.16420	T	0.52	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	243	Q8TBB6	S7A14_HUMAN	K	243	ENSP00000231706:E243K	ENSP00000231706:E243K	E	-	1	0	SLC7A14	171699182	0.999000	0.42202	0.933000	0.37362	0.857000	0.48899	4.787000	0.62432	2.840000	0.97914	0.655000	0.94253	GAG		0.517	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2		NM_020949		15	44	0	0	0	0.003163	0	15	44		
PIK3CA	5290	broad.mit.edu	37	3	178928074	178928074	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:178928074G>T	ENST00000263967.3	+	8	1509	c.1352G>T	c.(1351-1353)gGa>gTa	p.G451V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	451	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTACCTCATGGATTAGAAGAT	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		3	Complex - frameshift(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.G451_L456>V(1)|p.P449_L455del(1)	endometrium(2)|breast(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1351-1353)GGA>GTA		phosphoinositide-3-kinase, catalytic, alpha							138.0	131.0	133.0					3																	178928074		1830	4090	5920	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928074G>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1352G>T	3.37:g.178928074G>T	ENSP00000263967:p.Gly451Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G451V	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1509	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		451			C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1352G>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446067	0.84101	.	.	ENSG00000121879	ENST00000263967	T	0.70869	-0.52	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.80248	0.4588	L	0.57536	1.79	0.80722	D	1	D	0.54964	0.969	P	0.59487	0.858	T	0.76605	-0.2898	10	0.32370	T	0.25	-18.27	19.6973	0.96031	0.0:0.0:1.0:0.0	.	451	P42336	PK3CA_HUMAN	V	451	ENSP00000263967:G451V	ENSP00000263967:G451V	G	+	2	0	PIK3CA	180410768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.448000	0.97600	2.674000	0.91012	0.655000	0.94253	GGA		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				30	102	1	0	9.65021e-13	0.002096	1.78626e-12	30	102		
ECE2	9718	broad.mit.edu	37	3	184001650	184001650	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:184001650G>C	ENST00000402825.3	+	8	1248	c.1248G>C	c.(1246-1248)caG>caC	p.Q416H	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.Q298H|ECE2_ENST00000357474.5_Missense_Mutation_p.Q344H|ECE2_ENST00000359140.4_Missense_Mutation_p.Q269H	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	416	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGAGGGAGCAGATGCAGCAGG	0.597																																						uc003fni.3		NaN																	0				ovary(2)|skin(2)	4						c.(1246-1248)CAG>CAC		endothelin converting enzyme 2 isoform A							68.0	61.0	63.0					3																	184001650		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184001650G>C	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1248G>C	3.37:g.184001650G>C	ENSP00000384223:p.Gln416His					ECE2_uc011brh.1_Missense_Mutation_p.Q269H|ECE2_uc003fnl.3_Missense_Mutation_p.Q344H|ECE2_uc003fnm.3_Missense_Mutation_p.Q298H|ECE2_uc003fnk.3_Missense_Mutation_p.Q269H|ECE2_uc011bri.1_Missense_Mutation_p.Q331H|ECE2_uc010hxv.2_Missense_Mutation_p.Q60H	p.Q416H	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	1286	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		416			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.1248G>C	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467670	0.84533	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	4.5	4.5	0.54988	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	L	0.59436	1.845	0.80722	D	1	D;D;D;B;D;D;D	0.89917	0.999;1.0;1.0;0.416;1.0;1.0;0.999	D;D;D;B;D;D;D	0.78314	0.975;0.991;0.991;0.16;0.984;0.971;0.986	D	0.85252	0.1045	10	0.66056	D	0.02	-20.4014	15.9251	0.79609	0.0:0.0:1.0:0.0	.	18;269;287;298;344;269;416	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	H	416;269;298;344;290	ENSP00000384223:Q416H;ENSP00000352052:Q269H;ENSP00000385846:Q298H;ENSP00000350066:Q344H;ENSP00000398444:Q290H	ENSP00000350066:Q344H	Q	+	3	2	ECE2	185484344	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.291000	0.59025	2.330000	0.79161	0.650000	0.86243	CAG		0.597	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3		NM_014693		7	27	0	0	0	0.001984	0	7	27		
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311							protein complex binding (GO:0032403)	p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557																																						uc011bsp.1		NaN																	2	Substitution - Missense(2)		lung(2)		0						c.(931-933)CAG>GAG		hypothetical protein LOC151963							34.0	35.0	34.0					3																	192516720		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192516720G>C	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.931C>G	3.37:g.192516720G>C	ENSP00000376246:p.Gln311Glu						p.Q311E	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	2	1252	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		311					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.931C>G	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453077	0.43531	.	.	ENSG00000180611	ENST00000392452	T	0.07800	3.16	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.10252	0.0251	L	0.51422	1.61	0.80722	D	1	P	0.46784	0.884	B	0.42959	0.403	T	0.07102	-1.0790	10	0.05351	T	0.99	.	18.2403	0.89966	0.0:0.0:1.0:0.0	.	311	Q8IYB1	M21D2_HUMAN	E	311	ENSP00000376246:Q311E	ENSP00000376246:Q311E	Q	-	1	0	MB21D2	193999414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.542000	0.85734	0.655000	0.94253	CAG		0.557	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1		NM_178496		11	44	0	0	0	0.000978	0	11	44		
SMR3B	10879	broad.mit.edu	37	4	71255498	71255498	+	Missense_Mutation	SNP	G	G	C	rs267600235		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:71255498G>C	ENST00000304915.3	+	3	322	c.173G>C	c.(172-174)aGa>aCa	p.R58T	SMR3B_ENST00000504825.1_Missense_Mutation_p.R58T	NM_006685.3	NP_006676.1	P02814	SMR3B_HUMAN	submaxillary gland androgen regulated protein 3B	58	Pro-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R58K(1)		large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				GGTCCAGGGAGAATCCCACCT	0.602																																						uc011cas.1		NaN																	1	Substitution - Missense(1)	p.R58K(1)	skin(1)	skin(1)	1						c.(172-174)AGA>ACA		submaxillary gland androgen regulated protein 3							118.0	110.0	113.0					4																	71255498		2203	4300	6503	SO:0001583	missense	10879					extracellular space		g.chr4:71255498G>C	D29833	CCDS3540.1	4q13.3	2008-02-27	2008-02-27	2005-02-07	ENSG00000171201	ENSG00000171201			17326	protein-coding gene	gene with protein product		611593	"""proline rich 3"", ""submaxillary gland androgen regulated protein 3 homolog B (mouse)"""	PROL3		7982889, 479131	Standard	NM_006685		Approved	P-B, PRL3		P02814	OTTHUMG00000129396	ENST00000304915.3:c.173G>C	4.37:g.71255498G>C	ENSP00000302400:p.Arg58Thr					SMR3B_uc003hfh.2_Missense_Mutation_p.R58T	p.R58T	NM_006685	NP_006676	P02814	SMR3B_HUMAN			3	254	+		all_hematologic(202;0.196)	58			Pro-rich.		B7ZMG7|Q9UBN0|Q9UCT0	Missense_Mutation	SNP	ENST00000304915.3	37	c.173G>C	CCDS3540.1	.	.	.	.	.	.	.	.	.	.	G	2.869	-0.234314	0.05983	.	.	ENSG00000171201	ENST00000504825;ENST00000304915;ENST00000381030	T;T	0.29917	1.55;1.55	1.14	1.14	0.20703	.	.	.	.	.	T	0.43964	0.1271	.	.	.	0.09310	N	1	D	0.54772	0.968	P	0.61874	0.895	T	0.16988	-1.0384	8	0.87932	D	0	.	5.6367	0.17540	0.0:0.0:1.0:0.0	.	58	P02814	SMR3B_HUMAN	T	58	ENSP00000423138:R58T;ENSP00000302400:R58T	ENSP00000302400:R58T	R	+	2	0	SMR3B	71290087	0.000000	0.05858	0.004000	0.12327	0.080000	0.17528	-0.247000	0.08866	0.926000	0.37118	0.205000	0.17691	AGA		0.602	SMR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251552.2		NM_006685		33	47	0	0	0	0.003755	0	33	47		
PDLIM5	10611	broad.mit.edu	37	4	95561504	95561504	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:95561504A>C	ENST00000317968.4	+	9	1322	c.1186A>C	c.(1186-1188)Acc>Ccc	p.T396P	PDLIM5_ENST00000542407.1_Missense_Mutation_p.T274P|PDLIM5_ENST00000437932.1_Missense_Mutation_p.T287P|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000514743.1_Missense_Mutation_p.T425P	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	396					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TTTGGGACAAACCCAGCCAAG	0.493																																						uc003hti.2		NaN																	0				ovary(1)|skin(1)	2						c.(1186-1188)ACC>CCC		PDZ and LIM domain 5 isoform a							104.0	95.0	98.0					4																	95561504		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95561504A>C	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.1186A>C	4.37:g.95561504A>C	ENSP00000321746:p.Thr396Pro					PDLIM5_uc011cdx.1_Missense_Mutation_p.T293P|PDLIM5_uc003hth.2_Missense_Mutation_p.T287P|PDLIM5_uc003htj.2_Missense_Mutation_p.T71P|PDLIM5_uc003htk.2_Missense_Mutation_p.T425P|PDLIM5_uc011cdy.1_Missense_Mutation_p.T274P|PDLIM5_uc003htl.2_Missense_Mutation_p.T71P	p.T396P	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	9	1337	+		Hepatocellular(203;0.114)	396					A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.1186A>C	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.111168	0.00353	.	.	ENSG00000163110	ENST00000437932;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000514743	T;T;T;T;T	0.58506	0.51;0.72;0.49;0.33;0.56	5.67	2.05	0.26809	.	0.301431	0.37136	N	0.002228	T	0.13798	0.0334	N	0.00159	-1.955	0.22675	N	0.998863	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.40079	-0.9582	10	0.02654	T	1	.	6.4821	0.22069	0.2612:0.6001:0.0:0.1386	.	293;425;396;287	E9PBF5;D6RB78;Q96HC4;Q96HC4-4	.;.;PDLI5_HUMAN;.	P	287;396;293;274;425	ENSP00000398469:T287P;ENSP00000321746:T396P;ENSP00000424297:T293P;ENSP00000442187:T274P;ENSP00000424360:T425P	ENSP00000321746:T396P	T	+	1	0	PDLIM5	95780527	0.859000	0.29813	0.321000	0.25320	0.010000	0.07245	1.506000	0.35747	0.071000	0.16664	-1.924000	0.00514	ACC		0.493	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1				33	42	0	0	0	0.002445	0	33	42		
CENPE	1062	broad.mit.edu	37	4	104082504	104082504	+	Silent	SNP	C	C	G	rs367660720		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:104082504C>G	ENST00000265148.3	-	19	2042	c.1953G>C	c.(1951-1953)ctG>ctC	p.L651L	CENPE_ENST00000380026.3_Silent_p.L626L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	651					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTTCTCCTTCAGCTCCAGAT	0.333																																						uc003hxb.1		NaN																	0				ovary(5)|breast(4)	9						c.(1951-1953)CTG>CTC		centromere protein E							85.0	88.0	87.0					4																	104082504		2202	4299	6501	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104082504C>G	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1953G>C	4.37:g.104082504C>G						CENPE_uc003hxc.1_Silent_p.L626L	p.L651L	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	19	2043	-			651			Potential.		A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.1953G>C	CCDS34042.1																																																																																				0.333	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					4	43	0	0	0	0.000248	0	4	43		
TET2	54790	broad.mit.edu	37	4	106157172	106157172	+	Silent	SNP	T	T	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:106157172T>G	ENST00000540549.1	+	3	2933	c.2073T>G	c.(2071-2073)acT>acG	p.T691T	TET2_ENST00000394764.1_Silent_p.T691T|TET2_ENST00000545826.1_Silent_p.T691T|TET2_ENST00000380013.4_Silent_p.T691T|TET2_ENST00000513237.1_Silent_p.T712T|TET2_ENST00000413648.2_Silent_p.T691T|TET2_ENST00000305737.2_Silent_p.T691T			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	691	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.F683fs*17(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATTCCCAAACTGAAAAACTTA	0.418			"""Mis N, F"""		MDS																																	uc003hxk.2		NaN		Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		1	Deletion - Frameshift(1)		haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(2071-2073)ACT>ACG		tet oncogene family member 2 isoform a							88.0	91.0	90.0					4																	106157172		2203	4300	6503	SO:0001819	synonymous_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106157172T>G	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2073T>G	4.37:g.106157172T>G						TET2_uc011cez.1_Silent_p.T712T|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.T691T|TET2_uc003hxi.1_Silent_p.T691T	p.T691T	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2459	+		Myeloproliferative disorder(5;0.0393)	691			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	c.2073T>G	CCDS47120.1																																																																																				0.418	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2		NM_017628		13	69	0	0	0	0.00245	0	13	69		
CAMK2D	817	broad.mit.edu	37	4	114434999	114434999	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:114434999C>G	ENST00000342666.5	-	11	889	c.890G>C	c.(889-891)aGa>aCa	p.R297T	CAMK2D_ENST00000511664.1_Missense_Mutation_p.R297T|CAMK2D_ENST00000515496.1_Missense_Mutation_p.R297T|CAMK2D_ENST00000429180.1_Missense_Mutation_p.R297T|CAMK2D_ENST00000418639.2_Missense_Mutation_p.R297T|CAMK2D_ENST00000394524.3_Missense_Mutation_p.R297T|CAMK2D_ENST00000296402.5_Missense_Mutation_p.R297T|CAMK2D_ENST00000394522.3_Missense_Mutation_p.R297T|CAMK2D_ENST00000514328.1_Missense_Mutation_p.R297T|CAMK2D_ENST00000505990.1_Missense_Mutation_p.R297T|CAMK2D_ENST00000379773.2_Missense_Mutation_p.R297T|CAMK2D_ENST00000394526.2_Missense_Mutation_p.R297T|CAMK2D_ENST00000454265.2_Missense_Mutation_p.R297T|CAMK2D_ENST00000508738.1_Missense_Mutation_p.R297T			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	297	Calmodulin-binding. {ECO:0000250}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TAGTTTTCTTCTAGCATTAAA	0.353																																						uc003ibi.2		NaN																	0				ovary(1)	1						c.(889-891)AGA>ACA		calcium/calmodulin-dependent protein kinase II							45.0	44.0	45.0					4																	114434999		2203	4298	6501	SO:0001583	missense	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114434999C>G	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.890G>C	4.37:g.114434999C>G	ENSP00000339740:p.Arg297Thr					CAMK2D_uc003ibj.2_Missense_Mutation_p.R297T|CAMK2D_uc003ibk.2_Missense_Mutation_p.R297T|CAMK2D_uc003ibo.3_Missense_Mutation_p.R297T|CAMK2D_uc003ibm.2_Missense_Mutation_p.R297T|CAMK2D_uc003ibn.2_Missense_Mutation_p.R297T|CAMK2D_uc003ibl.2_Missense_Mutation_p.R297T	p.R297T	NM_001221	NP_001212	Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	11	1749	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	297			Calmodulin-binding (By similarity).		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	c.890G>C	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407111	0.62399	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738;ENST00000509594	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69435	-0.38;-0.36;-0.36;-0.32;-0.3;-0.38;-0.4;-0.39;-0.3;-0.39;-0.39;-0.38;-0.38;-0.38;1.5	5.11	5.11	0.69529	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.80560	0.4646	H	0.94345	3.525	0.80722	D	1	P;P;B;B;P	0.48089	0.905;0.885;0.093;0.053;0.817	P;P;B;B;B	0.46026	0.459;0.501;0.017;0.018;0.179	D	0.86683	0.1918	10	0.59425	D	0.04	.	18.5125	0.90921	0.0:1.0:0.0:0.0	.	297;297;297;297;297	E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557	.;.;.;.;KCC2D_HUMAN	T	297;297;297;297;297;297;297;297;297;297;297;297;297;297;92	ENSP00000378032:R297T;ENSP00000415248:R297T;ENSP00000415707:R297T;ENSP00000406131:R297T;ENSP00000378034:R297T;ENSP00000296402:R297T;ENSP00000425824:R297T;ENSP00000339740:R297T;ENSP00000423482:R297T;ENSP00000423677:R297T;ENSP00000378030:R297T;ENSP00000424245:R297T;ENSP00000369098:R297T;ENSP00000422566:R297T;ENSP00000423753:R92T	ENSP00000296402:R297T	R	-	2	0	CAMK2D	114654448	1.000000	0.71417	0.937000	0.37676	0.967000	0.64934	7.766000	0.85320	2.352000	0.79861	0.462000	0.41574	AGA		0.353	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2				4	33	0	0	0	0.000248	0	4	33		
INPP4B	8821	broad.mit.edu	37	4	142949964	142949964	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:142949964C>G	ENST00000513000.1	-	27	3179	c.2746G>C	c.(2746-2748)Gag>Cag	p.E916Q	INPP4B_ENST00000508116.1_Missense_Mutation_p.E916Q|INPP4B_ENST00000308502.4_Missense_Mutation_p.E916Q|INPP4B_ENST00000262992.4_Missense_Mutation_p.E916Q	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	916					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TAAGTCCCCTCTGGAGGTCTG	0.393																																						uc003iix.3		NaN																	0				ovary(1)|lung(1)	2						c.(2746-2748)GAG>CAG		inositol polyphosphate-4-phosphatase, type II,							159.0	145.0	150.0					4																	142949964		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:142949964C>G	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2746G>C	4.37:g.142949964C>G	ENSP00000425487:p.Glu916Gln					INPP4B_uc003iiw.3_Missense_Mutation_p.E916Q|INPP4B_uc011chm.1_RNA	p.E916Q	NM_003866	NP_003857	O15327	INP4B_HUMAN			27	3341	-	all_hematologic(180;0.158)		916					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.2746G>C	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937260	0.73557	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.58	5.58	0.84498	.	0.607843	0.16067	N	0.231207	T	0.47097	0.1427	L	0.58810	1.83	0.54753	D	0.999983	D	0.67145	0.996	P	0.62298	0.9	T	0.11891	-1.0569	10	0.30854	T	0.27	.	19.5654	0.95390	0.0:1.0:0.0:0.0	.	916	O15327	INP4B_HUMAN	Q	916	ENSP00000425487:E916Q;ENSP00000262992:E916Q;ENSP00000308441:E916Q;ENSP00000423954:E916Q	ENSP00000262992:E916Q	E	-	1	0	INPP4B	143169414	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.773000	0.85462	2.641000	0.89580	0.585000	0.79938	GAG		0.393	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1		NM_003866		40	17	0	0	0	0.002522	0	40	17		
DCLK2	166614	broad.mit.edu	37	4	151153948	151153948	+	Missense_Mutation	SNP	G	G	A	rs200547939		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:151153948G>A	ENST00000296550.7	+	10	2288	c.1534G>A	c.(1534-1536)Gtg>Atg	p.V512M	DCLK2_ENST00000302176.8_Missense_Mutation_p.V529M|DCLK2_ENST00000506325.1_Missense_Mutation_p.V511M	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	512	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CCTCAGCATCGTGCACAGAGA	0.458																																					GBM(195;186 2215 13375 16801 37459)	uc003ilm.3		NaN																	0				ovary(3)	3						c.(1534-1536)GTG>ATG		doublecortin-like kinase 2 isoform a							252.0	217.0	229.0					4																	151153948		2203	4300	6503	SO:0001583	missense	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151153948G>A	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1534G>A	4.37:g.151153948G>A	ENSP00000296550:p.Val512Met					DCLK2_uc003iln.3_Missense_Mutation_p.V511M|DCLK2_uc003ilo.3_Missense_Mutation_p.V529M|DCLK2_uc003ilp.3_RNA	p.V512M	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN			10	1634	+	all_hematologic(180;0.151)		512			Protein kinase.		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	c.1534G>A	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589844	0.86851	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.49720	0.77;0.77;0.77	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69251	0.3090	M	0.64567	1.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.983;0.998	T	0.68868	-0.5295	10	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	529;511;512	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	M	512;511;529	ENSP00000296550:V512M;ENSP00000427235:V511M;ENSP00000303887:V529M	ENSP00000296550:V512M	V	+	1	0	DCLK2	151373398	1.000000	0.71417	0.984000	0.44739	0.954000	0.61252	7.965000	0.87945	2.865000	0.98341	0.655000	0.94253	GTG		0.458	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1		NM_001040260		93	67	0	0	0	0.00361	0	93	67		
DCHS2	54798	broad.mit.edu	37	4	155226351	155226351	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:155226351G>A	ENST00000357232.4	-	16	3927	c.3928C>T	c.(3928-3930)Cca>Tca	p.P1310S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1310	Cadherin 11. {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)	p.P1310S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAGCACCTGGCATGATTTCA	0.343																																						uc003inw.2		NaN																	1	Substitution - Missense(1)		prostate(1)	ovary(3)|pancreas(1)	4						c.(3928-3930)CCA>TCA		dachsous 2 isoform 1							41.0	42.0	42.0					4																	155226351		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155226351G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3928C>T	4.37:g.155226351G>A	ENSP00000349768:p.Pro1310Ser						p.P1310S	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	16	3928	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1310			Cadherin 11.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3928C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141617	0.57044	.	.	ENSG00000197410	ENST00000357232	T	0.47528	0.84	6.02	5.18	0.71444	Cadherin (4);Cadherin-like (1);	0.084183	0.49916	N	0.000131	T	0.32675	0.0837	N	0.02736	-0.51	0.80722	D	1	D	0.56746	0.977	P	0.51701	0.677	T	0.23404	-1.0189	10	0.12766	T	0.61	.	15.0843	0.72138	0.0674:0.0:0.9326:0.0	.	1310	Q6V1P9	PCD23_HUMAN	S	1310	ENSP00000349768:P1310S	ENSP00000349768:P1310S	P	-	1	0	DCHS2	155445801	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.547000	0.53663	1.553000	0.49476	0.650000	0.86243	CCA		0.343	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2		NM_001142552		17	15	0	0	0	0.006122	0	17	15		
C4orf27	54969	broad.mit.edu	37	4	170674911	170674911	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:170674911C>T	ENST00000393381.2	-	2	199	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	42						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		TAATGATTTTCTACTTCTTTT	0.368																																						uc003isl.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(124-126)GAA>AAA		hypothetical protein LOC54969							68.0	65.0	66.0					4																	170674911		2203	4300	6503	SO:0001583	missense	54969					nucleus		g.chr4:170674911C>T	BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.124G>A	4.37:g.170674911C>T	ENSP00000406598:p.Glu42Lys						p.E42K	NM_017867	NP_060337	Q9NWY4	CD027_HUMAN		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)	2	189	-		Prostate(90;0.00601)|Renal(120;0.0183)	42						Missense_Mutation	SNP	ENST00000393381.2	37	c.124G>A	CCDS3813.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403438	0.42613	.	.	ENSG00000056050	ENST00000393381	T	0.29917	1.55	4.81	4.81	0.61882	.	0.174411	0.48286	D	0.000193	T	0.31827	0.0809	L	0.53249	1.67	0.51767	D	0.999936	B	0.22909	0.077	B	0.23574	0.047	T	0.09378	-1.0677	10	0.20519	T	0.43	-5.7798	17.8717	0.88813	0.0:1.0:0.0:0.0	.	42	Q9NWY4	CD027_HUMAN	K	42	ENSP00000406598:E42K	ENSP00000406598:E42K	E	-	1	0	C4orf27	170911486	0.998000	0.40836	0.975000	0.42487	0.945000	0.59286	3.960000	0.56752	2.225000	0.72522	0.462000	0.41574	GAA		0.368	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1		NM_017867		21	12	0	0	0	0.008871	0	21	12		
FAT1	2195	broad.mit.edu	37	4	187525001	187525001	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:187525001G>C	ENST00000441802.2	-	19	10888	c.10679C>G	c.(10678-10680)tCa>tGa	p.S3560*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3560	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GACGCCACCTGAGTATTCTTC	0.473										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(10678-10680)TCA>TGA		FAT tumor suppressor 1 precursor							86.0	87.0	87.0					4																	187525001		1962	4139	6101	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187525001G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10679C>G	4.37:g.187525001G>C	ENSP00000406229:p.Ser3560*	HNSCC(5;0.00058)					p.S3560*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			19	10867	-			3560			Extracellular (Potential).|Cadherin 33.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.10679C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	53	20.266983	0.99929	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.06	5.06	0.68205	.	0.208574	0.42964	D	0.000624	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	18.6333	0.91369	0.0:0.0:1.0:0.0	.	.	.	.	X	3560;3562	.	ENSP00000260147:S3562X	S	-	2	0	FAT1	187761995	1.000000	0.71417	0.849000	0.33467	0.740000	0.42216	7.814000	0.86154	2.636000	0.89361	0.563000	0.77884	TCA		0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		29	19	0	0	0	0.008361	0	29	19		
ADAMTS16	170690	broad.mit.edu	37	5	5182156	5182156	+	Splice_Site	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:5182156G>T	ENST00000274181.7	+	4	639		c.e4-1		ADAMTS16_ENST00000511368.1_Splice_Site	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16						branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATTTTTTCCAGTCAGGCATGA	0.448																																						uc003jdl.2		NaN																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.e4-1		ADAM metallopeptidase with thrombospondin type 1							69.0	67.0	68.0					5																	5182156		1850	4098	5948	SO:0001630	splice_region_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5182156G>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.502-1G>T	5.37:g.5182156G>T						ADAMTS16_uc003jdk.1_Splice_Site_p.S168_splice|ADAMTS16_uc003jdj.1_Splice_Site_p.S168_splice	p.S168_splice	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			4	640	+								C6G490|Q8IVE2	Splice_Site	SNP	ENST00000274181.7	37	c.502_splice	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538814	0.85917	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9034	0.88911	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAMTS16	5235156	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.541000	0.90644	2.510000	0.84645	0.650000	0.86243	.		0.448	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1		NM_139056	Intron	19	69	1	0	1.01871e-10	0.008871	1.87147e-10	19	69		
DNAH5	1767	broad.mit.edu	37	5	13916475	13916475	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:13916475G>C	ENST00000265104.4	-	9	1283	c.1179C>G	c.(1177-1179)atC>atG	p.I393M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	393	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAGAGATGTGATCTTCTCAG	0.303									Kartagener syndrome																													uc003jfd.2		NaN																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(1177-1179)ATC>ATG		dynein, axonemal, heavy chain 5							84.0	85.0	84.0					5																	13916475		2201	4291	6492	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13916475G>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1179C>G	5.37:g.13916475G>C	ENSP00000265104:p.Ile393Met					DNAH5_uc003jfe.1_RNA	p.I393M	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			9	1221	-	Lung NSC(4;0.00476)		393			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.1179C>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	0.076	-1.192122	0.01607	.	.	ENSG00000039139	ENST00000265104	T	0.54866	0.55	5.04	0.516	0.17019	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.15478	0.0373	N	0.01417	-0.88	0.46222	D	0.998932	B	0.09022	0.002	B	0.17098	0.017	T	0.29912	-0.9996	10	0.02654	T	1	.	4.1899	0.10416	0.1628:0.0853:0.5423:0.2095	.	393	Q8TE73	DYH5_HUMAN	M	393	ENSP00000265104:I393M	ENSP00000265104:I393M	I	-	3	3	DNAH5	13969475	0.924000	0.31332	0.950000	0.38849	0.997000	0.91878	-0.036000	0.12185	-0.074000	0.12820	0.650000	0.86243	ATC		0.303	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		7	36	0	0	0	0.00308	0	7	36		
ANKH	56172	broad.mit.edu	37	5	14746024	14746024	+	Silent	SNP	G	G	A	rs111688928		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:14746024G>A	ENST00000284268.6	-	7	1200	c.870C>T	c.(868-870)taC>taT	p.Y290Y	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Silent_p.Y92Y	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	290					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCAACCAGCCGTATGGCATGT	0.522																																						uc003jfm.3		NaN																	0				upper_aerodigestive_tract(1)	1						c.(868-870)TAC>TAT		progressive ankylosis protein							118.0	104.0	109.0					5																	14746024		2203	4300	6503	SO:0001819	synonymous_variant	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14746024G>A	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.870C>T	5.37:g.14746024G>A						ANKH_uc003jfl.3_Silent_p.Y3Y	p.Y290Y	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN			7	1201	-			290			Cytoplasmic (Potential).		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	ENST00000284268.6	37	c.870C>T	CCDS3885.1																																																																																				0.522	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1		NM_054027		18	31	0	0	0	0.008871	0	18	31		
C5orf22	55322	broad.mit.edu	37	5	31535946	31535946	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:31535946G>C	ENST00000325366.9	+	3	450	c.323G>C	c.(322-324)aGa>aCa	p.R108T	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	108										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CAGCAGATCAGAGAGGGCAGA	0.383																																						uc003jhj.3		NaN																	0				ovary(2)	2						c.(322-324)AGA>ACA		hypothetical protein LOC55322							138.0	124.0	129.0					5																	31535946		2203	4300	6503	SO:0001583	missense	55322							g.chr5:31535946G>C	AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.323G>C	5.37:g.31535946G>C	ENSP00000326879:p.Arg108Thr					C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_5'UTR	p.R108T	NM_018356	NP_060826	Q49AR2	CE022_HUMAN			3	450	+			108					Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	ENST00000325366.9	37	c.323G>C	CCDS3895.1	.	.	.	.	.	.	.	.	.	.	G	7.689	0.690553	0.15039	.	.	ENSG00000082213	ENST00000325366;ENST00000507818	T;T	0.38077	1.57;1.16	6.03	-1.25	0.09405	.	0.502120	0.24527	N	0.037745	T	0.19127	0.0459	L	0.33485	1.01	0.41585	D	0.988762	B	0.26935	0.164	B	0.21917	0.037	T	0.11665	-1.0578	10	0.12766	T	0.61	-1.1158	6.788	0.23683	0.4111:0.3394:0.2495:0.0	.	108	Q49AR2	CE022_HUMAN	T	108;139	ENSP00000326879:R108T;ENSP00000430860:R139T	ENSP00000326879:R108T	R	+	2	0	C5orf22	31571703	0.880000	0.30214	0.951000	0.38953	0.879000	0.50718	0.687000	0.25407	-0.133000	0.11537	-0.136000	0.14681	AGA		0.383	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2		NM_018356		13	37	0	0	0	0.001855	0	13	37		
UGT3A1	133688	broad.mit.edu	37	5	35954391	35954391	+	Silent	SNP	G	G	A	rs377507437		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:35954391G>A	ENST00000274278.3	-	7	1842	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	495						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCCCAGAGTGAGCCCCAGCA	0.587																																						uc003jjv.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1483-1485)CTC>CTT		UDP glycosyltransferase 3 family, polypeptide A1		G		0,4406		0,0,2203	104.0	77.0	86.0		1485	3.9	0.2	5		86	1,8599		0,1,4299	no	coding-synonymous	UGT3A1	NM_152404.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		495/524	35954391	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35954391G>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1485C>T	5.37:g.35954391G>A						UGT3A1_uc003jjw.1_RNA	p.L495L	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1642	-	all_lung(31;0.000197)		495			Helical; (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Silent	SNP	ENST00000274278.3	37	c.1485C>T	CCDS3913.1																																																																																				0.587	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2		NM_152404		5	27	0	0	0	0.001168	0	5	27		
SLC1A3	6507	broad.mit.edu	37	5	36671303	36671303	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:36671303G>A	ENST00000265113.4	+	4	968	c.492G>A	c.(490-492)gtG>gtA	p.V164V	SLC1A3_ENST00000381918.3_Silent_p.V164V|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	164					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGTACGAGTGACAGCTGCAG	0.473																																						uc003jkj.3		NaN																	0					0						c.(490-492)GTG>GTA		solute carrier family 1 (glial high affinity	L-Glutamic Acid(DB00142)						137.0	115.0	123.0					5																	36671303		2203	4300	6503	SO:0001819	synonymous_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36671303G>A		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.492G>A	5.37:g.36671303G>A						SLC1A3_uc011cox.1_Silent_p.V57V|SLC1A3_uc010iuy.2_Silent_p.V164V	p.V164V	NM_004172	NP_004163	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	968	+	all_lung(31;0.000245)		164			Extracellular (Potential).		B2R5T3|Q4JCQ8	Silent	SNP	ENST00000265113.4	37	c.492G>A	CCDS3919.1																																																																																				0.473	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2		NM_004172		9	23	0	0	0	0.006214	0	9	23		
C9	735	broad.mit.edu	37	5	39306727	39306727	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:39306727T>C	ENST00000263408.4	-	9	1503	c.1408A>G	c.(1408-1410)Agt>Ggt	p.S470G		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	470	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ACTTTTTGACTAATGAGAACA	0.363																																						uc003jlv.3		NaN																	0					0						c.(1408-1410)AGT>GGT		complement component 9 precursor							110.0	98.0	102.0					5																	39306727		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39306727T>C		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1408A>G	5.37:g.39306727T>C	ENSP00000263408:p.Ser470Gly						p.S470G	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		9	1497	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	470			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.1408A>G	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.654295	0.29425	.	.	ENSG00000113600	ENST00000263408	D	0.84442	-1.85	4.98	2.59	0.31030	Membrane attack complex component/perforin (MACPF) domain (3);	0.912271	0.09448	N	0.800851	T	0.80768	0.4686	M	0.62723	1.935	0.09310	N	1	P	0.34462	0.454	B	0.34931	0.192	T	0.66217	-0.5979	10	0.31617	T	0.26	-6.917	4.3809	0.11293	0.1473:0.1676:0.0:0.6851	.	470	P02748	CO9_HUMAN	G	470	ENSP00000263408:S470G	ENSP00000263408:S470G	S	-	1	0	C9	39342484	0.162000	0.22906	0.007000	0.13788	0.984000	0.73092	1.127000	0.31357	0.383000	0.24910	0.460000	0.39030	AGT		0.363	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3				15	41	0	0	0	0.007413	0	15	41		
SSBP2	23635	broad.mit.edu	37	5	80911377	80911377	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:80911377C>G	ENST00000320672.4	-	4	408		c.e4-1		SSBP2_ENST00000515395.1_Splice_Site|SSBP2_ENST00000514493.1_Splice_Site|SSBP2_ENST00000509053.1_Splice_Site|SSBP2_ENST00000505980.1_Splice_Site	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2						regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CCAAAATACACTAAAAAAGTA	0.328																																						uc003kho.2		NaN																SSBP2/JAK2(4)	0				haematopoietic_and_lymphoid_tissue(4)|skin(1)	5						c.e4-1		single-stranded DNA binding protein 2							54.0	52.0	53.0					5																	80911377		2203	4300	6503	SO:0001630	splice_region_variant	23635				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding	g.chr5:80911377C>G	AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.198-1G>C	5.37:g.80911377C>G						SSBP2_uc003khn.2_Splice_Site|SSBP2_uc003khp.2_Splice_Site_p.C66_splice|SSBP2_uc011ctp.1_Splice_Site_p.C66_splice|SSBP2_uc011ctq.1_Splice_Site_p.C66_splice|SSBP2_uc011ctr.1_Splice_Site_p.C66_splice	p.C66_splice	NM_012446	NP_036578	P81877	SSBP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)	4	409	-		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)						B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Splice_Site	SNP	ENST00000320672.4	37	c.198_splice	CCDS4056.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210019	0.79240	.	.	ENSG00000145687	ENST00000320672;ENST00000509053;ENST00000514493;ENST00000380182;ENST00000505980;ENST00000515395;ENST00000509013	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0507	0.93043	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SSBP2	80947133	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.410000	0.80065	2.607000	0.88179	0.484000	0.47621	.		0.328	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1		NM_012446	Intron	23	25	0	0	0	0.001882	0	23	25		
GPR98	84059	broad.mit.edu	37	5	90049511	90049511	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:90049511G>C	ENST00000405460.2	+	54	11338	c.11242G>C	c.(11242-11244)Gag>Cag	p.E3748Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3748					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAGGGGTTGAGGACTCATA	0.448																																						uc003kju.2		NaN																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(11242-11244)GAG>CAG		G protein-coupled receptor 98 precursor							102.0	99.0	100.0					5																	90049511		1927	4133	6060	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90049511G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11242G>C	5.37:g.90049511G>C	ENSP00000384582:p.Glu3748Gln					GPR98_uc003kjt.2_Missense_Mutation_p.E1454Q|GPR98_uc003kjv.2_Missense_Mutation_p.E1348Q	p.E3748Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	54	11338	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3748			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.11242G>C	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.791|0.791	-0.758776|-0.758776	0.03019|0.03019	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.25912|.	1.77|.	5.66|5.66	2.77|2.77	0.32553|0.32553	.|.	0.649919|.	0.16791|.	N|.	0.199378|.	T|T	0.19005|0.19005	0.0456|0.0456	N|N	0.12471|0.12471	0.22|0.22	0.18873|0.18873	N|N	0.999984|0.999984	B;B|.	0.13145|.	0.007;0.002|.	B;B|.	0.12156|.	0.007;0.001|.	T|T	0.17471|0.17471	-1.0368|-1.0368	10|5	0.25106|.	T|.	0.35|.	.|.	5.6109|5.6109	0.17404|0.17404	0.192:0.2509:0.5572:0.0|0.192:0.2509:0.5572:0.0	.|.	3748;3748|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	Q|F	3748|1313	ENSP00000384582:E3748Q|.	ENSP00000296619:E3748Q|.	E|L	+|+	1|3	0|2	GPR98|GPR98	90085267|90085267	0.003000|0.003000	0.15002|0.15002	0.442000|0.442000	0.26870|0.26870	0.002000|0.002000	0.02628|0.02628	0.153000|0.153000	0.16323|0.16323	1.391000|1.391000	0.46566|0.46566	0.650000|0.650000	0.86243|0.86243	GAG|TTG		0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		7	32	0	0	0	0.001984	0	7	32		
SLCO4C1	353189	broad.mit.edu	37	5	101596009	101596009	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:101596009G>C	ENST00000310954.6	-	6	1322	c.1036C>G	c.(1036-1038)Caa>Gaa	p.Q346E		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTTCCAGCTTGAATTTCTGCT	0.219																																						uc003knm.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(1036-1038)CAA>GAA		solute carrier organic anion transporter family,							36.0	35.0	35.0					5																	101596009		2199	4295	6494	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101596009G>C	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1036C>G	5.37:g.101596009G>C	ENSP00000309741:p.Gln346Glu						p.Q346E	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	6	1323	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	346			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000310954.6	37	c.1036C>G	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	8.762	0.923860	0.18056	.	.	ENSG00000173930	ENST00000310954	T	0.78003	-1.14	5.57	5.57	0.84162	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.494897	0.19810	N	0.105547	T	0.67627	0.2913	N	0.20845	0.615	0.40245	D	0.978009	B	0.12630	0.006	B	0.20384	0.029	T	0.61446	-0.7061	10	0.19147	T	0.46	.	19.5645	0.95388	0.0:0.0:1.0:0.0	.	346	Q6ZQN7	SO4C1_HUMAN	E	346	ENSP00000309741:Q346E	ENSP00000309741:Q346E	Q	-	1	0	SLCO4C1	101623908	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.205000	0.77881	2.599000	0.87857	0.650000	0.86243	CAA		0.219	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1		NM_180991		8	6	0	0	0	0.00308	0	8	6		
FBXL17	64839	broad.mit.edu	37	5	107216802	107216802	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:107216802C>T	ENST00000542267.1	-	8	2307	c.1901G>A	c.(1900-1902)gGa>gAa	p.G634E	FBXL17_ENST00000359660.5_Missense_Mutation_p.G236E|FBXL17_ENST00000496714.1_Missense_Mutation_p.G236E	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	634										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		CAGGGTGGCTCCTTGGTCTGT	0.453																																						uc011cvc.1		NaN																	0					0						c.(1900-1902)GGA>GAA		F-box and leucine-rich repeat protein 17							202.0	179.0	187.0					5																	107216802		2202	4300	6502	SO:0001583	missense	64839							g.chr5:107216802C>T	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1901G>A	5.37:g.107216802C>T	ENSP00000437464:p.Gly634Glu					FBXL17_uc003kon.3_Missense_Mutation_p.G236E	p.G634E	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	8	2308	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	634					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1901G>A	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069203	0.93950	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.05258	3.47;3.47;3.47	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000002	T	0.33556	0.0867	M	0.86864	2.845	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.06481	-1.0824	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	634;236	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	E	236;634;236	ENSP00000352683:G236E;ENSP00000437464:G634E;ENSP00000418111:G236E	ENSP00000352683:G236E	G	-	2	0	FBXL17	107244701	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.459000	0.80802	2.824000	0.97209	0.655000	0.94253	GGA		0.453	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					30	103	0	0	0	0.001786	0	30	103		
FER	2241	broad.mit.edu	37	5	108516519	108516519	+	Missense_Mutation	SNP	G	G	A	rs151332661		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:108516519G>A	ENST00000281092.4	+	18	2504	c.2120G>A	c.(2119-2121)cGt>cAt	p.R707H	FER_ENST00000438717.2_Missense_Mutation_p.R532H	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	707	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GGAATGTCTCGTCAAGAGGAT	0.423																																					Colon(146;1051 1799 9836 27344 47401)	uc003kop.1		NaN																	0				lung(2)|stomach(1)|ovary(1)|kidney(1)	5						c.(2119-2121)CGT>CAT		fer (fps/fes related) tyrosine kinase							128.0	119.0	122.0					5																	108516519		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108516519G>A	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2120G>A	5.37:g.108516519G>A	ENSP00000281092:p.Arg707His					FER_uc011cvg.1_Missense_Mutation_p.R532H	p.R707H	NM_005246	NP_005237	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	18	2504	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	707			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.2120G>A	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231764	0.95207	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	D;D	0.85258	-1.96;-1.96	5.35	5.35	0.76521	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93609	0.7959	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94432	0.7650	10	0.87932	D	0	-7.4676	19.1002	0.93270	0.0:0.0:1.0:0.0	.	707	P16591	FER_HUMAN	H	707;532	ENSP00000281092:R707H;ENSP00000394297:R532H	ENSP00000281092:R707H	R	+	2	0	FER	108544418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.500000	0.84329	0.650000	0.86243	CGT		0.423	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1		NM_005246		23	62	0	0	0	0.002299	0	23	62		
IRF1	3659	broad.mit.edu	37	5	131819667	131819667	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:131819667G>C	ENST00000245414.4	-	10	1212	c.954C>G	c.(952-954)atC>atG	p.I318M	IRF1_ENST00000463784.1_5'Flank|IRF1_ENST00000405885.2_Missense_Mutation_p.I318M	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	318					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GAATGGCCTGGATGGAGGGCA	0.587																																						uc003kxa.2		NaN																	0					0						c.(952-954)ATC>ATG		interferon regulatory factor 1							76.0	74.0	75.0					5																	131819667		2203	4300	6503	SO:0001583	missense	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131819667G>C		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.954C>G	5.37:g.131819667G>C	ENSP00000245414:p.Ile318Met					C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.I318M	p.I318M	NM_002198	NP_002189	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	10	1188	-		all_cancers(142;0.026)|Breast(839;0.198)	318					Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.954C>G	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.943112	0.34283	.	.	ENSG00000125347	ENST00000245414;ENST00000405885	D;D	0.99136	-5.47;-5.47	5.7	2.92	0.33932	.	2.114970	0.01874	N	0.037430	D	0.97297	0.9116	L	0.27053	0.805	0.31802	N	0.628252	P	0.38195	0.622	B	0.43658	0.426	D	0.94802	0.7971	10	0.29301	T	0.29	-17.4267	4.9807	0.14164	0.1777:0.0:0.6553:0.167	.	318	P10914	IRF1_HUMAN	M	318	ENSP00000245414:I318M;ENSP00000384406:I318M	ENSP00000245414:I318M	I	-	3	3	IRF1	131847566	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	1.479000	0.35453	0.321000	0.23259	-0.137000	0.14449	ATC		0.587	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1		NM_002198		10	25	0	0	0	0.008291	0	10	25		
PCDHGA6	56109	broad.mit.edu	37	5	140755384	140755384	+	Silent	SNP	G	G	C	rs376557886		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:140755384G>C	ENST00000517434.1	+	1	1734	c.1734G>C	c.(1732-1734)gcG>gcC	p.A578A	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	578	Cadherin 6. {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)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGCCCCGCTCCG	0.657																																						uc003ljy.1		NaN																	0				breast(1)	1						c.(1732-1734)GCG>GCC		protocadherin gamma subfamily A, 6 isoform 1							81.0	98.0	92.0					5																	140755384		2201	4296	6497	SO:0001819	synonymous_variant	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140755384G>C	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1734G>C	5.37:g.140755384G>C						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.A578A	p.A578A	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1734	+			578			Extracellular (Potential).|Cadherin 6.		A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.1734G>C	CCDS54926.1																																																																																				0.657	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1		NM_018919		46	108	0	0	0	0.00361	0	46	108		
PCDHGA12	26025	broad.mit.edu	37	5	140890566	140890566	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:140890566G>C	ENST00000252085.3	+	4	2767	c.2625G>C	c.(2623-2625)ttG>ttC	p.L875F	PCDHGA8_ENST00000398604.2_Missense_Mutation_p.L875F|PCDHGA4_ENST00000571252.1_Missense_Mutation_p.L874F|PCDHGA3_ENST00000253812.6_Missense_Mutation_p.L875F|PCDHGC4_ENST00000306593.1_Missense_Mutation_p.L881F|PCDHGA5_ENST00000518069.1_Missense_Mutation_p.L874F|PCDHGB4_ENST00000519479.1_Missense_Mutation_p.L866F|PCDHGB3_ENST00000576222.1_Missense_Mutation_p.L872F|PCDHGA6_ENST00000517434.1_Missense_Mutation_p.L875F|PCDHGC3_ENST00000308177.3_Missense_Mutation_p.L877F|PCDHGA7_ENST00000518325.1_Missense_Mutation_p.L875F|PCDHGC5_ENST00000252087.1_Missense_Mutation_p.L887F|PCDHGA2_ENST00000394576.2_Missense_Mutation_p.L875F|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.L693F|PCDHGB1_ENST00000523390.1_Missense_Mutation_p.L870F|PCDHGB7_ENST00000398594.2_Missense_Mutation_p.L872F|PCDHGB2_ENST00000522605.1_Missense_Mutation_p.L874F|PCDHGA10_ENST00000398610.2_Missense_Mutation_p.L879F|PCDHGA9_ENST00000573521.1_Missense_Mutation_p.L875F|PCDHGB6_ENST00000520790.1_Missense_Mutation_p.L873F|PCDHGA1_ENST00000517417.1_Missense_Mutation_p.L874F|PCDHGA11_ENST00000398587.2_Missense_Mutation_p.L878F	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	875					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGGGATTGAGCGCCCGCT	0.612																																						uc003lla.1		NaN																	0				ovary(3)	3						c.(2659-2661)TTG>TTC		protocadherin gamma subfamily C, 5 isoform 1							94.0	100.0	98.0					5																	140890566		2203	4300	6503	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140890566G>C	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2625G>C	5.37:g.140890566G>C	ENSP00000252085:p.Leu875Phe					PCDHGA1_uc003lji.1_Missense_Mutation_p.L874F|PCDHGA2_uc003ljk.1_Missense_Mutation_p.L875F|PCDHGA3_uc003ljm.1_Missense_Mutation_p.L875F|PCDHGA3_uc010jfx.1_Missense_Mutation_p.L635F|PCDHGB1_uc003ljo.1_Missense_Mutation_p.L870F|PCDHGA4_uc003ljq.1_Missense_Mutation_p.L874F|PCDHGB2_uc003ljs.1_Missense_Mutation_p.L874F|PCDHGA5_uc003lju.1_Missense_Mutation_p.L874F|PCDHGB3_uc003ljw.1_Missense_Mutation_p.L872F|PCDHGA6_uc003ljy.1_Missense_Mutation_p.L875F|PCDHGA7_uc003lka.1_Missense_Mutation_p.L875F|PCDHGB4_uc003lkc.1_Missense_Mutation_p.L866F|PCDHGA8_uc003lkd.1_Missense_Mutation_p.L875F|PCDHGB5_uc003lkf.1_Missense_Mutation_p.L866F|PCDHGA9_uc003lkh.1_Missense_Mutation_p.L875F|PCDHGB6_uc003lkj.1_Missense_Mutation_p.L873F|PCDHGA10_uc003lkl.1_Missense_Mutation_p.L879F|PCDHGB7_uc003lkn.1_Missense_Mutation_p.L872F|PCDHGA11_uc003lkp.1_Missense_Mutation_p.L693F|PCDHGA11_uc003lkq.1_Missense_Mutation_p.L878F|PCDHGA12_uc003lkt.1_Missense_Mutation_p.L875F|PCDHGC3_uc003lkv.1_Missense_Mutation_p.L877F|PCDHGC3_uc003lkw.1_Missense_Mutation_p.L77F|PCDHGC4_uc003lky.1_Missense_Mutation_p.L881F	p.L887F	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	2661	+			887			Cytoplasmic (Potential).		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.2661G>C	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.918445	0.52546	.	.	ENSG00000204956;ENSG00000081853;ENSG00000254245;ENSG00000254221;ENSG00000253910;ENSG00000253485;ENSG00000253731;ENSG00000253537;ENSG00000253953;ENSG00000253767;ENSG00000253305;ENSG00000253846;ENSG00000254122;ENSG00000253873;ENSG00000253873;ENSG00000253159;ENSG00000240184;ENSG00000242419;ENSG00000240764	ENST00000517417;ENST00000394576;ENST00000253812;ENST00000523390;ENST00000522605;ENST00000518069;ENST00000517434;ENST00000518325;ENST00000519479;ENST00000398604;ENST00000520790;ENST00000398610;ENST00000398594;ENST00000398587;ENST00000518882;ENST00000252085;ENST00000308177;ENST00000306593;ENST00000252087	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97232	-4.3;-4.3;-4.3;-4.3;-4.3;-4.3;-4.3;-4.3;-4.3;-4.3;-4.3;-4.3;-4.3;-4.3;-4.3;-4.3;-4.3;-4.3;-4.3	4.9	3.14	0.36123	.	0.000000	0.37437	N	0.002098	D	0.97222	0.9092	L	0.57536	1.79	0.36069	D	0.841989	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.995;1.0;0.989;0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.986;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;P;D;P;D;D;D;D;D;D;D;D;P;D;D;D	0.97110	0.998;0.984;0.999;0.997;0.987;0.992;0.999;0.997;0.993;0.757;1.0;0.635;0.973;0.997;0.989;0.989;0.999;0.989;0.997;0.989;0.593;0.989;0.992;0.994	D	0.97292	0.9925	10	0.87932	D	0	.	6.5903	0.22644	0.1502:0.0:0.7065:0.1433	.	887;881;77;877;875;878;693;872;879;873;875;866;875;866;875;875;872;874;874;874;870;875;875;874	Q9Y5F6;Q9Y5F7;Q9BR81;Q9UN70;O60330;Q9Y5H2;Q9Y5H2-3;Q9Y5F8;Q9Y5H3;Q9Y5F9;Q9Y5G4;Q9Y5G0;Q9Y5G5;Q9UN71;Q9Y5G6;Q9Y5G7;Q9Y5G1;Q9Y5G8;Q9Y5G2;Q9Y5G9;Q9Y5G3;Q9Y5H0;Q9Y5H1;Q9Y5H4	PCDGM_HUMAN;PCDGL_HUMAN;.;PCDGK_HUMAN;PCDGC_HUMAN;PCDGB_HUMAN;.;PCDGJ_HUMAN;PCDGA_HUMAN;PCDGI_HUMAN;PCDG9_HUMAN;PCDGH_HUMAN;PCDG8_HUMAN;PCDGG_HUMAN;PCDG7_HUMAN;PCDG6_HUMAN;PCDGF_HUMAN;PCDG5_HUMAN;PCDGE_HUMAN;PCDG4_HUMAN;PCDGD_HUMAN;PCDG3_HUMAN;PCDG2_HUMAN;PCDG1_HUMAN	F	874;875;875;870;874;874;875;875;866;875;873;879;872;878;693;875;877;881;887	ENSP00000431083:L874F;ENSP00000378077:L875F;ENSP00000253812:L875F;ENSP00000429273:L870F;ENSP00000429018:L874F;ENSP00000429834:L874F;ENSP00000429601:L875F;ENSP00000430024:L875F;ENSP00000428288:L866F;ENSP00000381605:L875F;ENSP00000428603:L873F;ENSP00000381611:L879F;ENSP00000381594:L872F;ENSP00000381589:L878F;ENSP00000428333:L693F;ENSP00000252085:L875F;ENSP00000312070:L877F;ENSP00000306918:L881F;ENSP00000252087:L887F	ENSP00000381611:L879F	L	+	3	2	PCDHGA12;PCDHGA10;PCDHGA11;PCDHGB7;PCDHGA8;PCDHGC5;PCDHGA7;PCDHGB6;PCDHGC4;PCDHGA6;PCDHGC3;PCDHGA5;PCDHGA3;PCDHGB2;PCDHGA2;PCDHGA1;PCDHGB4;PCDHGB1	140870750	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	1.035000	0.30216	0.672000	0.31204	-0.294000	0.09567	TTG		0.612	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2		NM_003735		37	129	0	0	0	0.00623	0	37	129		
AFAP1L1	134265	broad.mit.edu	37	5	148709287	148709287	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:148709287G>T	ENST00000296721.4	+	16	1967	c.1869G>T	c.(1867-1869)ttG>ttT	p.L623F	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.L623F	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	623						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGTACTTGGTAGAAAAAG	0.512																																						uc003lqh.2		NaN																	0				breast(1)|pancreas(1)	2						c.(1867-1869)TTG>TTT		actin filament associated protein 1-like 1							57.0	61.0	60.0					5																	148709287		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148709287G>T	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1869G>T	5.37:g.148709287G>T	ENSP00000296721:p.Leu623Phe					AFAP1L1_uc010jgy.2_Missense_Mutation_p.L623F|AFAP1L1_uc003lqi.1_Missense_Mutation_p.L238F	p.L623F	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	2000	+			623			Potential.		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.1869G>T	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875824	0.72180	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.19938	2.11;2.11	5.93	3.23	0.37069	.	0.000000	0.64402	D	0.000002	T	0.35740	0.0942	L	0.59436	1.845	0.43841	D	0.996426	D;D	0.69078	0.997;0.995	D;P	0.72982	0.979;0.82	T	0.04115	-1.0976	10	0.51188	T	0.08	-14.3387	6.141	0.20259	0.2051:0.0:0.6639:0.1309	.	623;623	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	F	623	ENSP00000296721:L623F;ENSP00000424427:L623F	ENSP00000296721:L623F	L	+	3	2	AFAP1L1	148689480	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.408000	0.34668	0.433000	0.26313	0.655000	0.94253	TTG		0.512	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1		NM_152406		10	23	1	0	7.03913e-09	0.001368	1.27715e-08	10	23		
JARID2	3720	broad.mit.edu	37	6	15496706	15496706	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:15496706C>T	ENST00000341776.2	+	7	1494	c.1250C>T	c.(1249-1251)tCa>tTa	p.S417L	JARID2_ENST00000397311.3_Missense_Mutation_p.S245L|JARID2_ENST00000541660.1_Missense_Mutation_p.S379L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	417					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AACCCAAAGTCATGCACTAAG	0.652																																						uc003nbj.2		NaN																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(1249-1251)TCA>TTA		jumonji, AT rich interactive domain 2 protein							31.0	38.0	36.0					6																	15496706		2203	4298	6501	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15496706C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1250C>T	6.37:g.15496706C>T	ENSP00000341280:p.Ser417Leu					JARID2_uc011diu.1_Missense_Mutation_p.S281L|JARID2_uc011div.1_Missense_Mutation_p.S245L|JARID2_uc011diw.1_Missense_Mutation_p.S379L	p.S417L	NM_004973	NP_004964	Q92833	JARD2_HUMAN			7	1494	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	417					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.1250C>T	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511649	0.64522	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.88509	-1.75;-1.76;-2.39	5.04	5.04	0.67666	.	0.557353	0.18453	N	0.140766	T	0.75087	0.3802	N	0.19112	0.55	0.37237	D	0.905923	B;P;B	0.36222	0.228;0.544;0.02	B;B;B	0.30855	0.121;0.113;0.016	T	0.78625	-0.2131	10	0.46703	T	0.11	-4.6007	18.564	0.91111	0.0:1.0:0.0:0.0	.	379;281;417	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	L	281;417;245;379	ENSP00000341280:S417L;ENSP00000380478:S245L;ENSP00000444623:S379L	ENSP00000341280:S417L	S	+	2	0	JARID2	15604685	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.127000	0.77210	2.618000	0.88619	0.655000	0.94253	TCA		0.652	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1		NM_004973		16	47	0	0	0	0.00499	0	16	47		
LY6G6D	58530	broad.mit.edu	37	6	31685471	31685471	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:31685471C>G	ENST00000375825.3	+	3	292	c.292C>G	c.(292-294)Ctg>Gtg	p.L98V	MEGT1_ENST00000503322.1_Missense_Mutation_p.L347V|LY6G6F_ENST00000556581.1_Missense_Mutation_p.L347V	NM_021246.2	NP_067069.2	O95868	LY66D_HUMAN	lymphocyte antigen 6 complex, locus G6D	98	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|plasma membrane (GO:0005886)				central_nervous_system(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						GGACTGCTACCTGGGAGACCT	0.597																																						uc003nwb.1		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(1039-1041)CTG>GTG		G6f protein precursor							134.0	138.0	137.0					6																	31685471		2203	4300	6503	SO:0001583	missense	259215					integral to membrane|plasma membrane		g.chr6:31685471C>G		CCDS34404.1	6p21.3	2008-08-29	2002-07-29	2002-08-01	ENSG00000244355	ENSG00000244355			13935	protein-coding gene	gene with protein product		606038	"""chromosome 6 open reading frame 23"""	C6orf23		12079290	Standard	NM_021246		Approved	MEGT1, Ly6-D, G6D, LY6-D, NG25		O95868	OTTHUMG00000137370	ENST00000375825.3:c.292C>G	6.37:g.31685471C>G	ENSP00000364985:p.Leu98Val					LY6G6D_uc003nwf.1_Missense_Mutation_p.L98V|LY6G6D_uc003nwg.1_Missense_Mutation_p.L77V	p.L347V	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN			6	1039	+			Error:Variant_position_missing_in_Q5SQ64_after_alignment					A2BEY8|B0UXC1|B0V019|B0V1Y6|Q4VX50	Missense_Mutation	SNP	ENST00000375825.3	37	c.1039C>G	CCDS34404.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.008|0.008	-1.903910|-1.903910	0.00512|0.00512	.|.	.|.	ENSG00000204424;ENSG00000250641;ENSG00000244355|ENSG00000244355	ENST00000556581;ENST00000503322;ENST00000375825|ENST00000375824	T;T;T|T	0.69175|0.38560	2.35;2.35;-0.38|1.13	5.54|5.54	-4.95|-4.95	0.03048|0.03048	.|.	2.924420|.	0.01173|.	N|.	0.006909|.	T|T	0.02571|0.02571	0.0078|0.0078	N|N	0.00483|0.00483	-1.445|-1.445	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.36065|0.36065	-0.9763|-0.9763	10|7	0.17369|0.44086	T|T	0.5|0.13	.|.	1.317|1.317	0.02109|0.02109	0.1963:0.1195:0.2586:0.4256|0.1963:0.1195:0.2586:0.4256	.|.	98;347|.	O95868;Q9NZJ1|.	LY66D_HUMAN;.|.	V|R	347;347;98|138	ENSP00000452432:L347V;ENSP00000421232:L347V;ENSP00000364985:L98V|ENSP00000364984:P138R	ENSP00000364985:L98V|ENSP00000364984:P138R	L|P	+|+	1|2	2|0	LY6G6D;XXbac-BPG32J3.19;LY6G6F|LY6G6D	31793450|31793450	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.113000|0.113000	0.19764|0.19764	-1.393000|-1.393000	0.02521|0.02521	-1.165000|-1.165000	0.02786|0.02786	-0.147000|-0.147000	0.13772|0.13772	CTG|CCT		0.597	LY6G6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144875.2				39	109	0	0	0	0.005524	0	39	109		
RPS18	6222	broad.mit.edu	37	6	33243622	33243622	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:33243622G>A	ENST00000439602.2	+	3	261	c.151G>A	c.(151-153)Gac>Aac	p.D51N	RPS18_ENST00000474973.1_5'UTR|B3GALT4_ENST00000451237.1_5'Flank|RPS18_ENST00000476222.1_3'UTR			P62269	RS18_HUMAN	ribosomal protein S18	51					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						AGCAGACATTGACCTCACCAA	0.512																																						uc003odp.1		NaN																	0					0						c.(151-153)GAC>AAC		ribosomal protein S18							122.0	125.0	124.0					6																	33243622		2203	4300	6503	SO:0001583	missense	6222				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr6:33243622G>A	X69150	CCDS4771.1	6p21.3	2011-04-05			ENSG00000231500	ENSG00000231500		"""S ribosomal proteins"""	10401	protein-coding gene	gene with protein product		180473		D6S218E		8441687, 9582194	Standard	NM_022551		Approved	KE3, KE-3, HKE3, S18	uc003odp.1	P62269	OTTHUMG00000031053	ENST00000439602.2:c.151G>A	6.37:g.33243622G>A	ENSP00000393241:p.Asp51Asn					RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA|B3GALT4_uc003odr.2_5'Flank	p.D51N	NM_022551	NP_072045	P62269	RS18_HUMAN			3	196	+			51					P25232|Q5SUJ3|Q6IPF8	Missense_Mutation	SNP	ENST00000439602.2	37	c.151G>A	CCDS4771.1	.	.	.	.	.	.	.	.	.	.	G	32	5.134778	0.94517	.	.	ENSG00000231500	ENST00000439602	.	.	.	4.89	4.89	0.63831	Ribosomal protein S13-like, H2TH (1);	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	M	0.72624	2.21	0.80722	D	1	B	0.28208	0.203	B	0.39119	0.291	T	0.68996	-0.5262	9	0.62326	D	0.03	.	15.653	0.77112	0.0:0.0:1.0:0.0	.	51	P62269	RS18_HUMAN	N	51	.	ENSP00000393241:D51N	D	+	1	0	RPS18	33351600	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.353000	0.90077	2.559000	0.86315	0.573000	0.79308	GAC		0.512	RPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076059.2				36	82	0	0	0	0.006999	0	36	82		
CMTR1	23070	broad.mit.edu	37	6	37414099	37414099	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:37414099G>T	ENST00000373451.4	+	4	482	c.318G>T	c.(316-318)ttG>ttT	p.L106F		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	106	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										GTGAAGGATTGGGTAAATACA	0.493																																						uc003ons.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(316-318)TTG>TTT		FtsJ methyltransferase domain containing 2							169.0	165.0	166.0					6																	37414099		2203	4300	6503	SO:0001583	missense	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37414099G>T	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.318G>T	6.37:g.37414099G>T	ENSP00000362550:p.Leu106Phe					FTSJD2_uc010jwu.2_Missense_Mutation_p.L106F	p.L106F	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN			4	571	+			106			G-patch.		A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	c.318G>T	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466072	0.84425	.	.	ENSG00000137200	ENST00000373451;ENST00000455891;ENST00000373427	T;T	0.74421	-0.84;-0.84	5.44	4.48	0.54585	D111/G-patch (3);	0.000000	0.64402	D	0.000001	D	0.88683	0.6503	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91449	0.5180	10	0.87932	D	0	-13.6469	11.2398	0.48962	0.0916:0.0:0.9084:0.0	.	106;106	Q5T7F5;Q8N1G2	.;MTR1_HUMAN	F	106	ENSP00000362550:L106F;ENSP00000414233:L106F	ENSP00000362526:L106F	L	+	3	2	FTSJD2	37522077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.442000	0.52900	1.134000	0.42165	0.655000	0.94253	TTG		0.493	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1		NM_015050		10	161	1	0	0.000673444	0.008291	0.00116149	10	161		
UBE2J1	51465	broad.mit.edu	37	6	90039588	90039588	+	Missense_Mutation	SNP	C	C	T	rs202016441	byFrequency	TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:90039588C>T	ENST00000435041.2	-	8	1045	c.767G>A	c.(766-768)cGg>cAg	p.R256Q		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	256					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		CTGCTGGGCCCGGCGCTGTCG	0.517													C|||	2	0.000399361	0.0	0.0014	5008	,	,		16827	0.0		0.001	False		,,,				2504	0.0					uc010kcb.2		NaN																	0					0						c.(766-768)CGG>CAG		ubiquitin-conjugating enzyme E2, J1		C	GLN/ARG	0,4406		0,0,2203	108.0	98.0	101.0		767	5.0	1.0	6		101	1,8599	1.2+/-3.3	0,1,4299	yes	missense	UBE2J1	NM_016021.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	256/319	90039588	1,13005	2203	4300	6503	SO:0001583	missense	51465					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr6:90039588C>T	AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"""Ubiquitin-conjugating enzymes E2"""	17598	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"""			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.767G>A	6.37:g.90039588C>T	ENSP00000451261:p.Arg256Gln					UBE2J1_uc003pnc.2_Missense_Mutation_p.R256Q	p.R256Q	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0139)	9	940	-		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)	256			Cytoplasmic (Potential).		A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Missense_Mutation	SNP	ENST00000435041.2	37	c.767G>A	CCDS5021.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	23.9	4.475474	0.84640	0.0	1.16E-4	ENSG00000198833	ENST00000435041;ENST00000536477	T	0.65732	-0.17	5.87	5.01	0.66863	.	0.216956	0.45606	N	0.000346	T	0.38719	0.1051	L	0.59436	1.845	0.51767	D	0.999934	P	0.42161	0.772	B	0.33392	0.163	T	0.39742	-0.9599	10	0.17832	T	0.49	-3.3526	15.4469	0.75238	0.0:0.9334:0.0:0.0666	.	256	Q9Y385	UB2J1_HUMAN	Q	256;241	ENSP00000451261:R256Q	ENSP00000354684:R256Q	R	-	2	0	UBE2J1	90096307	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.282000	0.72639	1.630000	0.50440	0.655000	0.94253	CGG		0.517	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2		NM_016021		15	40	0	0	0	0.003163	0	15	40		
MDN1	23195	broad.mit.edu	37	6	90394614	90394614	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:90394614G>A	ENST00000369393.3	-	71	11925	c.11810C>T	c.(11809-11811)cCc>cTc	p.P3937L	MDN1_ENST00000428876.1_Missense_Mutation_p.P3937L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3937					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTTTCTAGGGGGGAACGAAG	0.388																																						uc003pnn.1		NaN																	0				ovary(8)|skin(2)	10						c.(11809-11811)CCC>CTC		MDN1, midasin homolog							52.0	54.0	53.0					6																	90394614		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90394614G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11810C>T	6.37:g.90394614G>A	ENSP00000358400:p.Pro3937Leu						p.P3937L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	71	11926	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3937					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.11810C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.784348	0.70222	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.39787	1.06;1.06	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70579	-0.4833	10	0.87932	D	0	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	3937	Q9NU22	MDN1_HUMAN	L	3937	ENSP00000358400:P3937L;ENSP00000413970:P3937L	ENSP00000358400:P3937L	P	-	2	0	MDN1	90451335	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	8.651000	0.91078	2.783000	0.95769	0.655000	0.94253	CCC		0.388	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2				13	30	0	0	0	0.00245	0	13	30		
MMS22L	253714	broad.mit.edu	37	6	97634396	97634396	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:97634396G>A	ENST00000275053.4	-	15	2475	c.2210C>T	c.(2209-2211)tCa>tTa	p.S737L	MMS22L_ENST00000369251.2_Missense_Mutation_p.S697L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	737					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CGCAAGTTGTGAGAAAGGCAC	0.403																																						uc003ppb.2		NaN																	0					0						c.(2209-2211)TCA>TTA		hypothetical protein LOC253714							56.0	54.0	55.0					6																	97634396		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97634396G>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2210C>T	6.37:g.97634396G>A	ENSP00000275053:p.Ser737Leu					C6orf167_uc011eaf.1_Missense_Mutation_p.S697L	p.S737L	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	15	2476	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	737					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.2210C>T	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622053	0.28889	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.23552	2.22;1.9	4.99	4.12	0.48240	.	0.155976	0.43579	D	0.000556	T	0.11410	0.0278	L	0.44542	1.39	0.31597	N	0.65321	B;B	0.24043	0.096;0.019	B;B	0.23852	0.049;0.033	T	0.08207	-1.0733	10	0.38643	T	0.18	-3.1628	15.1253	0.72478	0.0:0.0:0.8572:0.1427	.	697;737	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	L	737;697	ENSP00000275053:S737L;ENSP00000358254:S697L	ENSP00000275053:S737L	S	-	2	0	MMS22L	97741117	1.000000	0.71417	0.987000	0.45799	0.411000	0.31082	5.499000	0.66937	1.231000	0.43661	-0.238000	0.12139	TCA		0.403	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3		NM_198468		9	21	0	0	0	0.006214	0	9	21		
FYN	2534	broad.mit.edu	37	6	112035566	112035566	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:112035566G>C	ENST00000354650.3	-	5	934	c.328C>G	c.(328-330)Caa>Gaa	p.Q110E	FYN_ENST00000356013.2_Missense_Mutation_p.Q110E|FYN_ENST00000229471.4_Missense_Mutation_p.Q110E|FYN_ENST00000229470.5_Intron|FYN_ENST00000368667.2_Missense_Mutation_p.Q110E|FYN_ENST00000368682.3_Missense_Mutation_p.Q110E|FYN_ENST00000538466.1_Missense_Mutation_p.Q110E|FYN_ENST00000368678.4_Missense_Mutation_p.Q110E	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	110	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTCAATATTTGAAATTTTTCT	0.438																																						uc003pvj.2		NaN																	0				lung(5)|central_nervous_system(1)|skin(1)	7						c.(328-330)CAA>GAA		protein-tyrosine kinase fyn isoform a	Dasatinib(DB01254)						91.0	86.0	88.0					6																	112035566		2203	4300	6503	SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:112035566G>C	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.328C>G	6.37:g.112035566G>C	ENSP00000346671:p.Gln110Glu					FYN_uc003pvi.2_Missense_Mutation_p.Q110E|FYN_uc003pvk.2_Missense_Mutation_p.Q110E|FYN_uc003pvh.2_Missense_Mutation_p.Q110E	p.Q110E	NM_002037	NP_002028	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	4	668	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	110			SH3.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.328C>G	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415878	0.62511	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000356013;ENST00000538466;ENST00000462856;ENST00000520518;ENST00000517419;ENST00000518295;ENST00000523238;ENST00000524310;ENST00000523574;ENST00000462598;ENST00000518630;ENST00000523570	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.77	5.77	0.91146	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.18467	0.0443	N	0.02345	-0.59	0.80722	D	1	B;B;P	0.44090	0.016;0.016;0.826	B;B;B	0.43990	0.007;0.008;0.438	T	0.13548	-1.0505	10	0.21014	T	0.42	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	110;110;110	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	E	110	ENSP00000357671:Q110E;ENSP00000346671:Q110E;ENSP00000229471:Q110E;ENSP00000357656:Q110E;ENSP00000357667:Q110E;ENSP00000348295:Q110E;ENSP00000440646:Q110E;ENSP00000427993:Q110E;ENSP00000429294:Q110E;ENSP00000429866:Q110E;ENSP00000428695:Q110E;ENSP00000430364:Q110E;ENSP00000428493:Q110E;ENSP00000429992:Q110E;ENSP00000429590:Q110E;ENSP00000429813:Q110E;ENSP00000428045:Q110E	ENSP00000229471:Q110E	Q	-	1	0	FYN	112142259	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	CAA		0.438	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1				6	33	0	0	0	0.004482	0	6	33		
ROS1	6098	broad.mit.edu	37	6	117662723	117662723	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:117662723G>C	ENST00000368508.3	-	29	4940	c.4742C>G	c.(4741-4743)tCt>tGt	p.S1581C	ROS1_ENST00000368507.3_Missense_Mutation_p.S1575C|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1581	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGGCTTGTGAGATTCTCTCCA	0.423			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NaN		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(4741-4743)TCT>TGT		proto-oncogene c-ros-1 protein precursor							157.0	140.0	146.0					6																	117662723		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117662723G>C	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4742C>G	6.37:g.117662723G>C	ENSP00000357494:p.Ser1581Cys					ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron	p.S1581C	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	29	4941	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1581			Fibronectin type-III 7.|Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.4742C>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354534	0.61293	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.54479	0.57;0.57	4.95	4.95	0.65309	.	0.304596	0.28742	N	0.014288	T	0.48077	0.1480	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	P	0.61328	0.887	T	0.55101	-0.8193	10	0.87932	D	0	.	14.0487	0.64722	0.0:0.0:1.0:0.0	.	1581	P08922	ROS1_HUMAN	C	1581;1575	ENSP00000357494:S1581C;ENSP00000357493:S1575C	ENSP00000357493:S1575C	S	-	2	0	ROS1	117769416	1.000000	0.71417	0.971000	0.41717	0.823000	0.46562	6.245000	0.72398	2.473000	0.83533	0.655000	0.94253	TCT		0.423	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1				8	31	0	0	0	0.00308	0	8	31		
GRM1	2911	broad.mit.edu	37	6	146708053	146708053	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:146708053T>A	ENST00000282753.1	+	6	1865	c.1630T>A	c.(1630-1632)Tgc>Agc	p.C544S	GRM1_ENST00000492807.2_Missense_Mutation_p.C544S|GRM1_ENST00000355289.4_Missense_Mutation_p.C544S|GRM1_ENST00000507907.1_Missense_Mutation_p.C544S|GRM1_ENST00000361719.2_Missense_Mutation_p.C544S|GRM1_ENST00000392299.2_Missense_Mutation_p.C544S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	544					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AGTGAGCTGCTGCTGGATTTG	0.408																																						uc010khw.1		NaN																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(1630-1632)TGC>AGC		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						118.0	113.0	115.0					6																	146708053		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146708053T>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1630T>A	6.37:g.146708053T>A	ENSP00000282753:p.Cys544Ser					GRM1_uc010khv.1_Missense_Mutation_p.C544S|GRM1_uc003qll.2_Missense_Mutation_p.C544S|GRM1_uc011edz.1_Missense_Mutation_p.C544S|GRM1_uc011eea.1_Missense_Mutation_p.C544S	p.C544S	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	7	2100	+		Ovarian(120;0.0387)	544			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1630T>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601242	0.87055	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.99494	-6.01;-6.01;-6.01;-6.01;-6.01;-6.01	5.45	5.45	0.79879	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	D	0.97510	1.0066	10	0.87932	D	0	.	15.1701	0.72865	0.0:0.0:0.0:1.0	.	544;544;544	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	S	544	ENSP00000354896:C544S;ENSP00000376119:C544S;ENSP00000424095:C544S;ENSP00000282753:C544S;ENSP00000347437:C544S;ENSP00000425599:C544S	ENSP00000282753:C544S	C	+	1	0	GRM1	146749746	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.426000	0.80270	2.049000	0.60858	0.477000	0.44152	TGC		0.408	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1		NM_000838		6	21	0	0	0	0.001984	0	6	21		
MTHFD1L	25902	broad.mit.edu	37	6	151203955	151203955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:151203955C>T	ENST00000367321.3	+	5	749	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	MTHFD1L_ENST00000367307.4_Nonsense_Mutation_p.Q159*	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	159	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CCTTGCCCTTCAGATCTCTGA	0.308																																						uc003qob.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(475-477)CAG>TAG		methylenetetrahydrofolate dehydrogenase (NADP+							55.0	55.0	55.0					6																	151203955		2203	4300	6503	SO:0001587	stop_gained	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151203955C>T	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.475C>T	6.37:g.151203955C>T	ENSP00000356290:p.Gln159*					MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Nonsense_Mutation_p.Q159*|MTHFD1L_uc003qoc.2_Nonsense_Mutation_p.Q106*|MTHFD1L_uc003qoa.1_Nonsense_Mutation_p.Q159*|MTHFD1L_uc010kil.1_RNA	p.Q159*	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	5	743	+		Ovarian(120;0.128)	159			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Nonsense_Mutation	SNP	ENST00000367321.3	37	c.475C>T	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	C	37	6.315862	0.97467	.	.	ENSG00000120254	ENST00000367321;ENST00000367307;ENST00000423867;ENST00000443074;ENST00000425276	.	.	.	5.61	5.61	0.85477	.	0.179749	0.48767	D	0.000161	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.55	0.84470	0.0:1.0:0.0:0.0	.	.	.	.	X	159;159;49;4;3	.	ENSP00000356276:Q159X	Q	+	1	0	MTHFD1L	151245648	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	4.437000	0.59955	2.642000	0.89623	0.650000	0.86243	CAG		0.308	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1		NM_015440		11	36	0	0	0	0.000978	0	11	36		
ZBTB2	57621	broad.mit.edu	37	6	151687786	151687786	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:151687786C>T	ENST00000325144.4	-	3	555	c.415G>A	c.(415-417)Gat>Aat	p.D139N		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	139					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)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AACTGATGATCTGCAATCTGA	0.547																																						uc003qoh.2		NaN																	0				skin(1)	1						c.(415-417)GAT>AAT		zinc finger and BTB domain containing 2							102.0	95.0	98.0					6																	151687786		2203	4300	6503	SO:0001583	missense	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151687786C>T	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.415G>A	6.37:g.151687786C>T	ENSP00000323183:p.Asp139Asn						p.D139N	NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	550	-			139					A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	ENST00000325144.4	37	c.415G>A	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088254	0.55968	.	.	ENSG00000181472	ENST00000325144	T	0.04917	3.53	5.76	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.09335	0.0230	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.19418	-1.0306	10	0.42905	T	0.14	-33.6666	16.1534	0.81640	0.1346:0.8654:0.0:0.0	.	139	Q8N680	ZBTB2_HUMAN	N	139	ENSP00000323183:D139N	ENSP00000323183:D139N	D	-	1	0	ZBTB2	151729479	1.000000	0.71417	0.151000	0.22473	0.873000	0.50193	7.480000	0.81109	1.412000	0.46977	-0.181000	0.13052	GAT		0.547	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1		NM_020861		32	67	0	0	0	0.008361	0	32	67		
ZDHHC14	79683	broad.mit.edu	37	6	158074650	158074650	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:158074650G>A	ENST00000359775.5	+	8	1948	c.1059G>A	c.(1057-1059)caG>caA	p.Q353Q	ZDHHC14_ENST00000414563.2_Silent_p.Q353Q|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	353					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGCAGTCACAGAGTGACATGG	0.607																																						uc003qqt.2		NaN																	0				ovary(1)|skin(1)	2						c.(1057-1059)CAG>CAA		zinc finger, DHHC-type containing 14 isoform 1							64.0	54.0	57.0					6																	158074650		2203	4300	6503	SO:0001819	synonymous_variant	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:158074650G>A	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.1059G>A	6.37:g.158074650G>A						ZDHHC14_uc003qqs.2_Silent_p.Q353Q|ZDHHC14_uc010kjn.2_Silent_p.Q8Q	p.Q353Q	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	8	1556	+		Breast(66;0.00586)|Ovarian(120;0.123)	353					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Silent	SNP	ENST00000359775.5	37	c.1059G>A	CCDS5252.1																																																																																				0.607	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2		NM_153746		12	30	0	0	0	0.001368	0	12	30		
SYTL3	94120	broad.mit.edu	37	6	159166530	159166530	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:159166530G>C	ENST00000297239.9	+	11	1068	c.874G>C	c.(874-876)Gac>Cac	p.D292H	SYTL3_ENST00000360448.3_Missense_Mutation_p.D224H|SYTL3_ENST00000367081.3_Missense_Mutation_p.D18H			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	292					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		AATTAGCATTGACAGCACCTG	0.323																																						uc003qrp.2		NaN																	0					0						c.(874-876)GAC>CAC		synaptotagmin-like 3							64.0	62.0	63.0					6																	159166530		2203	4300	6503	SO:0001583	missense	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159166530G>C	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.874G>C	6.37:g.159166530G>C	ENSP00000297239:p.Asp292His					SYTL3_uc011efp.1_Missense_Mutation_p.D292H|SYTL3_uc003qro.2_Missense_Mutation_p.D224H|SYTL3_uc003qrq.2_Missense_Mutation_p.D224H|SYTL3_uc003qrr.2_Missense_Mutation_p.D292H|SYTL3_uc003qrs.2_Missense_Mutation_p.D224H|SYTL3_uc011efq.1_Missense_Mutation_p.D18H	p.D292H	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	11	1118	+		Breast(66;0.000776)|Ovarian(120;0.0303)	292					Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	c.874G>C	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	8.475	0.858477	0.17178	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.19532	2.15;2.14;2.74	5.51	4.28	0.50868	.	0.387279	0.28828	N	0.014010	T	0.03651	0.0104	N	0.08118	0	0.24527	N	0.994131	B;B;B	0.28419	0.211;0.083;0.135	B;B;B	0.33799	0.168;0.082;0.17	T	0.43893	-0.9363	10	0.14252	T	0.57	.	11.2256	0.48882	0.9277:0.0:0.0723:0.0	.	18;292;224	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	H	224;292;292;18	ENSP00000353631:D224H;ENSP00000297239:D292H;ENSP00000356048:D18H	ENSP00000297239:D292H	D	+	1	0	SYTL3	159086518	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	5.277000	0.65586	0.926000	0.37118	-0.290000	0.09829	GAC		0.323	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1				7	21	0	0	0	0.00308	0	7	21		
SYTL3	94120	broad.mit.edu	37	6	159166673	159166673	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:159166673G>C	ENST00000297239.9	+	11	1211	c.1017G>C	c.(1015-1017)aaG>aaC	p.K339N	SYTL3_ENST00000360448.3_Missense_Mutation_p.K271N|SYTL3_ENST00000367081.3_Missense_Mutation_p.K65N			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	339	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GAGAAGAAAAGAAGAAAAAGT	0.313																																						uc003qrp.2		NaN																	0					0						c.(1015-1017)AAG>AAC		synaptotagmin-like 3							62.0	60.0	61.0					6																	159166673		2203	4300	6503	SO:0001583	missense	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159166673G>C	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1017G>C	6.37:g.159166673G>C	ENSP00000297239:p.Lys339Asn					SYTL3_uc011efp.1_Missense_Mutation_p.K339N|SYTL3_uc003qro.2_Missense_Mutation_p.K271N|SYTL3_uc003qrq.2_Missense_Mutation_p.K271N|SYTL3_uc003qrr.2_Missense_Mutation_p.K339N|SYTL3_uc003qrs.2_Missense_Mutation_p.K271N|SYTL3_uc011efq.1_Missense_Mutation_p.K65N	p.K339N	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	11	1261	+		Breast(66;0.000776)|Ovarian(120;0.0303)	339			C2 1.		Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	c.1017G>C	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280333	0.23392	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.71341	-0.56;-0.56;-0.56	5.51	1.71	0.24356	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.783770	0.12013	N	0.507706	T	0.41719	0.1171	L	0.37507	1.11	0.41275	D	0.986874	B;B;B	0.32467	0.372;0.31;0.254	B;B;B	0.35312	0.077;0.2;0.068	T	0.22906	-1.0203	10	0.36615	T	0.2	.	6.9163	0.24361	0.1906:0.2329:0.5765:0.0	.	65;339;271	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	N	271;339;339;65	ENSP00000353631:K271N;ENSP00000297239:K339N;ENSP00000356048:K65N	ENSP00000297239:K339N	K	+	3	2	SYTL3	159086661	1.000000	0.71417	0.904000	0.35570	0.708000	0.40852	3.022000	0.49659	0.032000	0.15435	-0.794000	0.03295	AAG		0.313	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1				7	31	0	0	0	0.004482	0	7	31		
WTAP	9589	broad.mit.edu	37	6	160169273	160169273	+	Silent	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:160169273G>C	ENST00000358372.4	+	6	2081	c.324G>C	c.(322-324)ctG>ctC	p.L108L	WTAP_ENST00000337387.4_Silent_p.L108L|SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	108					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TTGCCCAACTGAGATCAACAA	0.418																																						uc003qsl.2		NaN																	0					0						c.(322-324)CTG>CTC		Wilms' tumour 1-associating protein isoform 1							59.0	59.0	59.0					6																	160169273		2203	4297	6500	SO:0001819	synonymous_variant	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160169273G>C	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.324G>C	6.37:g.160169273G>C						WTAP_uc010kjx.2_Silent_p.L108L|WTAP_uc003qsk.2_Silent_p.L108L|WTAP_uc003qsm.1_RNA|WTAP_uc003qsn.2_Silent_p.L108L	p.L108L	NM_004906	NP_004897	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	6	546	+		Breast(66;0.000776)|Ovarian(120;0.0303)	108					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Silent	SNP	ENST00000358372.4	37	c.324G>C	CCDS5266.1																																																																																				0.418	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1		NM_152857		12	39	0	0	0	0.00245	0	12	39		
MACC1	346389	broad.mit.edu	37	7	20199869	20199869	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:20199869C>T	ENST00000400331.5	-	5	424		c.e5-1		MACC1_ENST00000589011.1_Splice_Site|MACC1_ENST00000332878.4_Splice_Site	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1						positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TCCTGGCATTCTTGTTATTTA	0.388																																						uc003sus.3		NaN																	0				ovary(2)|skin(1)	3						c.e5-1		putative binding protein 7a5							68.0	70.0	69.0					7																	20199869		2199	4294	6493	SO:0001630	splice_region_variant	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20199869C>T		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.116-1G>A	7.37:g.20199869C>T						MACC1_uc010kug.2_Splice_Site_p.E39_splice	p.E39_splice	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			5	425	-								A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Splice_Site	SNP	ENST00000400331.5	37	c.116_splice	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	4.193	0.034470	0.08101	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	.	.	.	5.49	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.23346	N	0.997865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4927	0.33110	0.2519:0.6726:0.0:0.0755	.	.	.	.	.	-1	.	.	.	-	.	.	MACC1	20166394	0.149000	0.22717	0.021000	0.16686	0.039000	0.13416	0.739000	0.26173	1.313000	0.45069	0.585000	0.79938	.		0.388	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5		NM_182762	Intron	13	29	0	0	0	0.001368	0	13	29		
TRA2A	29896	broad.mit.edu	37	7	23571441	23571441	+	Start_Codon_SNP	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:23571441C>T	ENST00000297071.4	-	1	219	c.3G>A	c.(1-3)atG>atA	p.M1I	TRA2A_ENST00000474586.1_5'Flank|TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	1					mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CCACATCACTCATGTCGACGA	0.582																																					Pancreas(121;2137 2973 46590)	uc003swi.2		NaN																	0				ovary(1)	1						c.(1-3)ATG>ATA		transformer-2 alpha							63.0	59.0	61.0					7																	23571441		2203	4300	6503	SO:0001582	initiator_codon_variant	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23571441C>T	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.3G>A	7.37:g.23571441C>T	ENSP00000297071:p.Met1Ile					TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_5'UTR|TRA2A_uc011jzd.1_5'UTR|TRA2A_uc010kuo.1_RNA	p.M1I	NM_013293	NP_037425	Q13595	TRA2A_HUMAN			1	217	-			1					B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.3G>A	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731186	0.48939	.	.	ENSG00000164548	ENST00000297071	T	0.23950	1.88	5.06	5.06	0.68205	.	0.122142	0.64402	D	0.000001	T	0.26231	0.0640	.	.	.	0.80722	D	1	B	0.12630	0.006	B	0.17722	0.019	T	0.03898	-1.0994	9	0.62326	D	0.03	-0.638	16.4432	0.83908	0.0:1.0:0.0:0.0	.	1	Q13595	TRA2A_HUMAN	I	1	ENSP00000297071:M1I	ENSP00000297071:M1I	M	-	3	0	TRA2A	23537966	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.502000	0.60400	2.644000	0.89710	0.585000	0.79938	ATG		0.582	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1		NM_013293	Missense_Mutation	19	40	0	0	0	0.001882	0	19	40		
NEUROD6	63974	broad.mit.edu	37	7	31378699	31378699	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:31378699C>T	ENST00000297142.3	-	2	506	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	62	Poly-Glu.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						ctgtcttcctcctcttcttct	0.448																																						uc003tch.2		NaN																	0				ovary(2)	2						c.(184-186)GAG>AAG		neurogenic differentiation 6							212.0	206.0	208.0					7																	31378699		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378699C>T	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.184G>A	7.37:g.31378699C>T	ENSP00000297142:p.Glu62Lys						p.E62K	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	537	-			62			Poly-Glu.		Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.184G>A	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885912	0.51908	.	.	ENSG00000164600	ENST00000297142	D	0.96073	-3.9	5.56	5.56	0.83823	.	0.222353	0.39759	N	0.001261	D	0.92724	0.7687	L	0.49778	1.585	0.53688	D	0.999978	B	0.26635	0.155	B	0.21360	0.034	D	0.90142	0.4214	10	0.08599	T	0.76	-19.253	19.1479	0.93476	0.0:1.0:0.0:0.0	.	62	Q96NK8	NDF6_HUMAN	K	62	ENSP00000297142:E62K	ENSP00000297142:E62K	E	-	1	0	NEUROD6	31345224	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.711000	0.68400	2.626000	0.88956	0.650000	0.86243	GAG		0.448	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1		NM_022728		54	83	0	0	0	0.00361	0	54	83		
NEUROD6	63974	broad.mit.edu	37	7	31378712	31378712	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:31378712C>T	ENST00000297142.3	-	2	493	c.171G>A	c.(169-171)gaG>gaA	p.E57E		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	57	Poly-Glu.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						cttcttctttctcggtttctt	0.448																																						uc003tch.2		NaN																	0				ovary(2)	2						c.(169-171)GAG>GAA		neurogenic differentiation 6							186.0	183.0	184.0					7																	31378712		2203	4300	6503	SO:0001819	synonymous_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378712C>T	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.171G>A	7.37:g.31378712C>T							p.E57E	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	524	-			57			Poly-Glu.		Q548T9|Q9H3H6	Silent	SNP	ENST00000297142.3	37	c.171G>A	CCDS5434.1																																																																																				0.448	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1		NM_022728		58	80	0	0	0	0.00361	0	58	80		
AMPH	273	broad.mit.edu	37	7	38431490	38431490	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:38431490G>A	ENST00000356264.2	-	19	1952	c.1737C>T	c.(1735-1737)agC>agT	p.S579S	AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000325590.5_Silent_p.S537S|AMPH_ENST00000428293.2_Silent_p.S537S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	579					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CCGGTGTCTCGCTGGTGGGGC	0.612																																						uc003tgu.2		NaN																	0				ovary(3)|liver(1)|skin(1)	5						c.(1735-1737)AGC>AGT		amphiphysin isoform 1							55.0	51.0	52.0					7																	38431490		2203	4300	6503	SO:0001819	synonymous_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38431490G>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1737C>T	7.37:g.38431490G>A						AMPH_uc003tgv.2_Silent_p.S537S|AMPH_uc003tgt.2_Silent_p.S464S|AMPH_uc003tgw.1_Silent_p.S602S|AMPH_uc010kxl.1_RNA	p.S579S	NM_001635	NP_001626	P49418	AMPH_HUMAN			19	1806	-			579					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	c.1737C>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	5.449	0.267860	0.10349	.	.	ENSG00000078053	ENST00000441628	.	.	.	5.24	-8.86	0.00795	.	.	.	.	.	.	.	.	.	.	.	0.27686	N	0.946278	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.0755	13.6465	0.62286	0.6683:0.0783:0.2534:0.0	.	.	.	.	X	462	.	.	R	-	1	2	AMPH	38398015	0.014000	0.17966	0.000000	0.03702	0.003000	0.03518	-0.457000	0.06745	-2.510000	0.00504	-1.936000	0.00505	CGA		0.612	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2		NM_001635		13	25	0	0	0	0.001855	0	13	25		
ZNF479	90827	broad.mit.edu	37	7	57193755	57193755	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:57193755T>A	ENST00000331162.4	-	4	502	c.232A>T	c.(232-234)Aag>Tag	p.K78*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	78	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCATTTCTCTTTATATTCTGG	0.408																																						uc010kzo.2		NaN																	0				ovary(3)|skin(1)	4						c.(232-234)AAG>TAG		zinc finger protein 479							63.0	69.0	67.0					7																	57193755		1997	4050	6047	SO:0001587	stop_gained	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57193755T>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.232A>T	7.37:g.57193755T>A	ENSP00000333776:p.Lys78*						p.K78*	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		4	503	-			78			KRAB.			Nonsense_Mutation	SNP	ENST00000331162.4	37	c.232A>T	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	18.43	3.622370	0.66787	.	.	ENSG00000185177	ENST00000331162	.	.	.	1.25	1.25	0.21368	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.59	0.12302	0.0:0.0:0.0:1.0	.	.	.	.	X	78	.	ENSP00000333776:K78X	K	-	1	0	ZNF479	57197697	0.000000	0.05858	0.014000	0.15608	0.007000	0.05969	-0.392000	0.07314	0.558000	0.29135	0.324000	0.21423	AAG		0.408	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1		XM_291202		29	90	0	0	0	0.003755	0	29	90		
HIP1	3092	broad.mit.edu	37	7	75190635	75190635	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:75190635C>G	ENST00000336926.6	-	13	1215	c.1189G>C	c.(1189-1191)Gag>Cag	p.E397Q	HIP1_ENST00000434438.2_Missense_Mutation_p.E397Q	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	397					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGTTATACCTCAGTCTTCATG	0.453			T	PDGFRB	CMML																																	uc003uds.1		NaN		Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(1189-1191)GAG>CAG		huntingtin interacting protein 1							327.0	283.0	298.0					7																	75190635		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75190635C>G	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1189G>C	7.37:g.75190635C>G	ENSP00000336747:p.Glu397Gln					HIP1_uc011kfz.1_Missense_Mutation_p.E274Q	p.E397Q	NM_005338	NP_005329	O00291	HIP1_HUMAN			13	1230	-			397			Potential.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.1189G>C	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082473	0.36758	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.15017	2.73;2.46	5.64	5.64	0.86602	.	0.089030	0.85682	D	0.000000	T	0.37919	0.1021	M	0.67953	2.075	0.58432	D	0.999996	D;D	0.71674	0.982;0.998	P;D	0.69307	0.601;0.963	T	0.02053	-1.1222	10	0.33940	T	0.23	-34.6558	14.3138	0.66434	0.0:0.8519:0.1481:0.0	.	397;397	E7ES17;O00291	.;HIP1_HUMAN	Q	397	ENSP00000336747:E397Q;ENSP00000410300:E397Q	ENSP00000336747:E397Q	E	-	1	0	HIP1	75028571	1.000000	0.71417	0.960000	0.40013	0.050000	0.14768	4.885000	0.63142	2.662000	0.90505	0.655000	0.94253	GAG		0.453	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2		NM_005338		39	125	0	0	0	0.006999	0	39	125		
GSAP	54103	broad.mit.edu	37	7	76982908	76982908	+	Silent	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:76982908G>T	ENST00000257626.7	-	17	1467	c.1389C>A	c.(1387-1389)ctC>ctA	p.L463L		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	463					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										ATTCCTGAATGAGGTCAAATG	0.373																																						uc003ugf.2		NaN																	0				central_nervous_system(1)	1						c.(1387-1389)CTC>CTA		pigeon homolog							95.0	89.0	91.0					7																	76982908		2203	4300	6503	SO:0001819	synonymous_variant	54103				beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding	g.chr7:76982908G>T		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1389C>A	7.37:g.76982908G>T						PION_uc003ugg.1_Silent_p.L248L	p.L463L	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN			17	1468	-			463					A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	ENST00000257626.7	37	c.1389C>A	CCDS34672.2																																																																																				0.373	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2		NM_017439		15	41	1	0	6.72482e-11	0.003163	1.23852e-10	15	41		
PCLO	27445	broad.mit.edu	37	7	82390090	82390090	+	Silent	SNP	C	C	G	rs368623048		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:82390090C>G	ENST00000333891.9	-	24	15490	c.15153G>C	c.(15151-15153)gtG>gtC	p.V5051V		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						CATATATTTTCACATATAAAT	0.284																																						uc003uhx.2		NaN																	0				ovary(7)	7						c.(15151-15153)GTG>GTC		piccolo isoform 1							50.0	46.0	48.0					7																	82390090		1782	4060	5842	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82390090C>G	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.15153G>C	7.37:g.82390090C>G							p.V5051V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			24	15442	-			4974			C2 2.			Silent	SNP	ENST00000333891.9	37	c.15153G>C	CCDS47630.1																																																																																				0.284	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510		4	9	0	0	0	0.000248	0	4	9		
KIAA1324L	222223	broad.mit.edu	37	7	86548627	86548627	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:86548627C>T	ENST00000450689.2	-	11	1585		c.e11-1		KIAA1324L_ENST00000444627.1_Splice_Site|KIAA1324L_ENST00000490995.1_Splice_Site|KIAA1324L_ENST00000416314.1_Splice_Site|KIAA1324L_ENST00000297222.6_Splice_Site	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like							integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ACCTCCCAACCTAGAAGTAAT	0.333																																						uc011kha.1		NaN																	0				ovary(6)|skin(1)	7						c.e11-1		hypothetical protein LOC222223 isoform 1							50.0	50.0	50.0					7																	86548627		2203	4300	6503	SO:0001630	splice_region_variant	222223					integral to membrane		g.chr7:86548627C>T	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1400-1G>A	7.37:g.86548627C>T						KIAA1324L_uc003uif.1_Splice_Site_p.G227_splice|KIAA1324L_uc011kgz.1_Splice_Site_p.G353_splice|KIAA1324L_uc003uie.2_Splice_Site_p.G300_splice	p.G467_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			11	1585	-	Esophageal squamous(14;0.0058)							A4D1C9|B4DJV3|Q17RI6|Q96DP2	Splice_Site	SNP	ENST00000450689.2	37	c.1400_splice	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448900	0.84101	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314;ENST00000423294	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3401	0.94337	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1324L	86386563	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.764000	0.85297	2.803000	0.96430	0.655000	0.94253	.		0.333	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3		NM_152748	Intron	11	15	0	0	0	0.000978	0	11	15		
CFAP69	79846	broad.mit.edu	37	7	89887468	89887468	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:89887468G>A	ENST00000389297.4	+	3	488	c.237G>A	c.(235-237)caG>caA	p.Q79Q	C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000316089.8_Silent_p.Q79Q|C7orf63_ENST00000497910.1_Silent_p.Q79Q	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		79										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AGTGTTATCAGAATGGACTTG	0.289																																						uc010lep.2		NaN																	0				ovary(1)	1						c.(235-237)CAG>CAA		hypothetical protein LOC79846 isoform 1							76.0	76.0	76.0					7																	89887468		1809	4045	5854	SO:0001819	synonymous_variant	79846						binding	g.chr7:89887468G>A																												ENST00000389297.4:c.237G>A	7.37:g.89887468G>A						C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.1_Silent_p.Q79Q|C7orf63_uc010leo.2_Silent_p.Q79Q	p.Q79Q	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN			3	488	+			79					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	ENST00000389297.4	37	c.237G>A	CCDS43613.2																																																																																				0.289	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4				11	25	0	0	0	0.008291	0	11	25		
CASD1	64921	broad.mit.edu	37	7	94175012	94175012	+	Splice_Site	SNP	C	C	T	rs376448411		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:94175012C>T	ENST00000297273.4	+	12	1919	c.1632C>T	c.(1630-1632)aaC>aaT	p.N544N		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	544						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAAAGCAAACGGTAAATATA	0.284																																						uc003uni.3		NaN																	0				ovary(2)	2						c.(1630-1632)AAC>AAT		CAS1 domain containing 1 precursor		C		0,4402		0,0,2201	81.0	72.0	75.0		1632	-3.9	1.0	7		75	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous-near-splice	CASD1	NM_022900.4		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		544/798	94175012	1,12997	2201	4298	6499	SO:0001630	splice_region_variant	64921					integral to membrane		g.chr7:94175012C>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1633+1C>T	7.37:g.94175012C>T						CASD1_uc003unj.3_Silent_p.N544N	p.N544N	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		12	1859	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		544					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Silent	SNP	ENST00000297273.4	37	c.1632C>T	CCDS5636.1																																																																																				0.284	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1		NM_022900	Silent	10	16	0	0	0	0.006214	0	10	16		
LMTK2	22853	broad.mit.edu	37	7	97821646	97821646	+	Silent	SNP	C	C	T	rs141759251	byFrequency	TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:97821646C>T	ENST00000297293.5	+	11	2162	c.1869C>T	c.(1867-1869)caC>caT	p.H623H		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	623					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GGGACTTACACGTGACCAGTG	0.468																																						uc003upd.1		NaN																	0				lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16						c.(1867-1869)CAC>CAT		lemur tyrosine kinase 2 precursor		C		0,4406		0,0,2203	49.0	48.0	48.0		1869	-10.1	0.0	7	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LMTK2	NM_014916.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		623/1504	97821646	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821646C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1869C>T	7.37:g.97821646C>T							p.H623H	NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN			11	2162	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		623					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.1869C>T	CCDS5654.1																																																																																				0.468	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1		NM_014916		17	48	0	0	0	0.00499	0	17	48		
ZNF655	79027	broad.mit.edu	37	7	99158255	99158255	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:99158255G>C	ENST00000394163.2	+	2	256	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	GS1-259H13.10_ENST00000486324.1_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.E25Q|ZNF655_ENST00000449244.1_Missense_Mutation_p.E25Q|ZNF655_ENST00000320583.5_Missense_Mutation_p.E25Q|ZNF655_ENST00000357864.2_Missense_Mutation_p.E25Q|ZNF655_ENST00000424881.1_Missense_Mutation_p.E25Q|ZNF655_ENST00000252713.4_Missense_Mutation_p.E25Q|ZNF655_ENST00000440391.1_Missense_Mutation_p.E25Q|GS1-259H13.10_ENST00000455905.1_Missense_Mutation_p.E25Q|ZNF655_ENST00000454654.1_Missense_Mutation_p.E25Q|ZNF655_ENST00000425063.1_Missense_Mutation_p.E25Q	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	25					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GACCCAGTCTGAGTGTCTGTC	0.562																																						uc003urh.2		NaN																	0				ovary(1)	1						c.(73-75)GAG>CAG		zinc finger protein 655 isoform a							118.0	113.0	115.0					7																	99158255		2203	4300	6503	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99158255G>C	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.73G>C	7.37:g.99158255G>C	ENSP00000377718:p.Glu25Gln					FAM200A_uc003urb.2_5'Flank|ZNF655_uc003urf.2_RNA|ZNF655_uc003urc.2_Missense_Mutation_p.E25Q|ZNF655_uc010lfz.2_Missense_Mutation_p.E25Q|ZNF655_uc003ure.2_RNA|ZNF655_uc010lga.2_Missense_Mutation_p.E25Q|ZNF655_uc010lgb.2_Missense_Mutation_p.E25Q|ZNF655_uc003uri.2_Missense_Mutation_p.E25Q|ZNF655_uc010lgc.2_Missense_Mutation_p.E25Q|ZNF655_uc003urj.2_Missense_Mutation_p.E25Q	p.E25Q	NM_138494	NP_612503	Q8N720	ZN655_HUMAN			2	466	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		25					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.73G>C	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388699	0.82902	.	.	ENSG00000197343	ENST00000320583;ENST00000357864;ENST00000452314;ENST00000252713;ENST00000454654;ENST00000449244;ENST00000425063;ENST00000493277;ENST00000422164;ENST00000422647;ENST00000427931;ENST00000424881;ENST00000440391;ENST00000394163	T;T;T;T;T;T;T;T	0.43294	4.94;3.07;3.0;1.06;0.95;1.16;3.0;3.07	4.39	4.39	0.52855	.	0.152828	0.30714	N	0.009025	T	0.47303	0.1438	L	0.32530	0.975	0.27350	N	0.956278	D;P;D;P	0.76494	0.999;0.941;0.998;0.93	D;P;P;P	0.65443	0.935;0.677;0.863;0.558	T	0.26608	-1.0098	10	0.18710	T	0.47	-10.2828	12.7828	0.57487	0.0:0.0:1.0:0.0	.	25;25;25;25	Q8N720-3;A6NGD3;Q8N720;Q8N720-2	.;.;ZN655_HUMAN;.	Q	25	ENSP00000322363:E25Q;ENSP00000252713:E25Q;ENSP00000419135:E25Q;ENSP00000389260:E25Q;ENSP00000393750:E25Q;ENSP00000392244:E25Q;ENSP00000393876:E25Q;ENSP00000377718:E25Q	ENSP00000252713:E25Q	E	+	1	0	ZNF655	98996191	0.995000	0.38212	0.975000	0.42487	0.990000	0.78478	2.624000	0.46444	2.724000	0.93272	0.563000	0.77884	GAG		0.562	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1		NM_138494		22	49	0	0	0	0.00333	0	22	49		
CTTNBP2	83992	broad.mit.edu	37	7	117431626	117431626	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:117431626G>A	ENST00000160373.3	-	4	1715	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	542	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ATAGGAGGAGGATTTCCTCTG	0.547																																						uc003vjf.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(1624-1626)CCT>TCT		cortactin binding protein 2							108.0	114.0	112.0					7																	117431626		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117431626G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1624C>T	7.37:g.117431626G>A	ENSP00000160373:p.Pro542Ser						p.P542S	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1716	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		542			Pro-rich.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.1624C>T	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.59|17.59	3.426920|3.426920	0.62733|0.62733	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.79554|.	-1.28|.	5.6|5.6	4.72|4.72	0.59763|0.59763	.|.	0.047495|.	0.85682|.	N|.	0.000000|.	T|T	0.77336|0.77336	0.4115|0.4115	M|M	0.83852|0.83852	2.665|2.665	0.52501|0.52501	D|D	0.999955|0.999955	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.79952|0.79952	-0.1586|-0.1586	10|5	0.72032|.	D|.	0.01|.	0.538|0.538	14.9719|14.9719	0.71241|0.71241	0.0689:0.0:0.9311:0.0|0.0689:0.0:0.9311:0.0	.|.	542|.	Q8WZ74|.	CTTB2_HUMAN|.	S|F	542|70	ENSP00000160373:P542S|.	ENSP00000160373:P542S|.	P|S	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117218862|117218862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.420000|9.420000	0.97426|0.97426	1.499000|1.499000	0.48617|0.48617	0.563000|0.563000	0.77884|0.77884	CCT|TCC		0.547	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4		NM_033427		38	104	0	0	0	0.005524	0	38	104		
CTTNBP2	83992	broad.mit.edu	37	7	117450981	117450981	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:117450981G>C	ENST00000160373.3	-	3	343	c.252C>G	c.(250-252)ttC>ttG	p.F84L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	84					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGAGTGCCAGGAACGGGTCAT	0.458																																						uc003vjf.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(250-252)TTC>TTG		cortactin binding protein 2							109.0	103.0	105.0					7																	117450981		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117450981G>C		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.252C>G	7.37:g.117450981G>C	ENSP00000160373:p.Phe84Leu						p.F84L	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	3	344	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		84					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.252C>G	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131872	0.56828	.	.	ENSG00000077063	ENST00000160373;ENST00000434890;ENST00000454375;ENST00000412853	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.77	4.9	0.64082	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	N	0.20530	0.585	0.53688	D	0.999979	P	0.41366	0.747	P	0.59761	0.863	T	0.30475	-0.9977	10	0.39692	T	0.17	-1.9876	11.5248	0.50573	0.1878:0.0:0.8122:0.0	.	84	Q8WZ74	CTTB2_HUMAN	L	84;42;42;42	ENSP00000160373:F84L;ENSP00000396014:F42L;ENSP00000405831:F42L;ENSP00000393373:F42L	ENSP00000160373:F84L	F	-	3	2	CTTNBP2	117238217	1.000000	0.71417	0.992000	0.48379	0.934000	0.57294	1.913000	0.39956	1.583000	0.49898	-0.140000	0.14226	TTC		0.458	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4		NM_033427		19	57	0	0	0	0.007413	0	19	57		
FLNC	2318	broad.mit.edu	37	7	128489029	128489029	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:128489029C>T	ENST00000325888.8	+	28	5181	c.4920C>T	c.(4918-4920)ctC>ctT	p.L1640L	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.L1640L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1640				L -> T (in Ref. 9; CAA49689). {ECO:0000305}.	cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCAAGTGCCTCGTCACAGGTG	0.657																																						uc003vnz.3		NaN																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(4918-4920)CTC>CTT		gamma filamin isoform a							78.0	88.0	85.0					7																	128489029		2139	4240	6379	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128489029C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4920C>T	7.37:g.128489029C>T						FLNC_uc003voa.3_Silent_p.L1640L	p.L1640L	NM_001458	NP_001449	Q14315	FLNC_HUMAN			28	5129	+			1640	L -> T (in Ref. 9; CAA49689).		Filamin 15.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.4920C>T	CCDS43644.1																																																																																				0.657	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3				28	54	0	0	0	0.002096	0	28	54		
TNPO3	23534	broad.mit.edu	37	7	128614995	128614995	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:128614995G>C	ENST00000265388.5	-	18	2343	c.2200C>G	c.(2200-2202)Cag>Gag	p.Q734E	TNPO3_ENST00000471166.1_Missense_Mutation_p.Q768E|TNPO3_ENST00000393245.1_Missense_Mutation_p.Q768E|TNPO3_ENST00000482320.1_Missense_Mutation_p.Q668E|TNPO3_ENST00000471234.1_Missense_Mutation_p.Q670E			Q9Y5L0	TNPO3_HUMAN	transportin 3	734					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TCTAGGAGCTGAAAGGTGGGG	0.428																																					Pancreas(147;583 2585 39696 52331)	uc003vol.1		NaN																	0				ovary(2)|skin(2)|lung(1)	5						c.(2200-2202)CAG>GAG		transportin 3							118.0	103.0	108.0					7																	128614995		2203	4300	6503	SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128614995G>C	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2200C>G	7.37:g.128614995G>C	ENSP00000265388:p.Gln734Glu					TNPO3_uc010llx.1_Missense_Mutation_p.Q145E|TNPO3_uc003vom.1_Missense_Mutation_p.Q668E|TNPO3_uc010lly.1_Missense_Mutation_p.Q768E|TNPO3_uc010llz.1_Missense_Mutation_p.Q670E	p.Q734E	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN			18	2574	-			734					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	c.2200C>G	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306304	0.40795	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T	0.65178	-0.14	5.96	5.96	0.96718	Armadillo-type fold (1);	0.181723	0.51477	D	0.000092	T	0.43678	0.1258	N	0.14661	0.345	0.58432	D	0.999995	B;B;B;B	0.15473	0.007;0.013;0.002;0.002	B;B;B;B	0.15052	0.01;0.008;0.012;0.005	T	0.41197	-0.9522	10	0.02654	T	1	.	17.9158	0.88950	0.0:0.0:1.0:0.0	.	670;768;734;734	C9IZM0;C9J7E5;Q9Y5L0-3;Q9Y5L0	.;.;.;TNPO3_HUMAN	E	768;734;668;670;768	ENSP00000418646:Q670E	ENSP00000265388:Q734E	Q	-	1	0	TNPO3	128402231	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.752000	0.85141	2.832000	0.97577	0.655000	0.94253	CAG		0.428	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1		NM_012470		21	50	0	0	0	0.002299	0	21	50		
CEP41	95681	broad.mit.edu	37	7	130038848	130038848	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:130038848C>G	ENST00000223208.5	-	11	1276	c.1006G>C	c.(1006-1008)Gag>Cag	p.E336Q	CEP41_ENST00000343969.5_Missense_Mutation_p.E264Q|CEP41_ENST00000541543.1_Missense_Mutation_p.E248Q	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	336					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)		p.E336*(1)									ACCTTGGACTCTCTTCCGGAG	0.587																																						uc003vpz.2		NaN																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1006-1008)GAG>CAG		testis specific, 14							103.0	118.0	113.0					7																	130038848		2203	4300	6503	SO:0001583	missense	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130038848C>G	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.1006G>C	7.37:g.130038848C>G	ENSP00000223208:p.Glu336Gln					TSGA14_uc003vpy.2_Missense_Mutation_p.E98Q|TSGA14_uc010lmf.2_Missense_Mutation_p.E133Q|TSGA14_uc003vqa.2_Missense_Mutation_p.E264Q|TSGA14_uc011kpg.1_Missense_Mutation_p.E248Q	p.E336Q	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN			11	1053	-	Melanoma(18;0.0435)		336					A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	c.1006G>C	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842997	0.32606	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969	D;D;D	0.88664	-2.39;-2.08;-2.41	5.63	5.63	0.86233	.	0.357947	0.32970	N	0.005436	T	0.78792	0.4339	N	0.08118	0	0.21527	N	0.99966	B;B;B	0.24368	0.054;0.001;0.102	B;B;B	0.19148	0.004;0.001;0.024	T	0.68194	-0.5473	10	0.40728	T	0.16	-15.4785	15.5403	0.76039	0.0:1.0:0.0:0.0	.	248;264;336	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	Q	336;248;264	ENSP00000223208:E336Q;ENSP00000445888:E248Q;ENSP00000342738:E264Q	ENSP00000223208:E336Q	E	-	1	0	TSGA14	129826084	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	2.662000	0.46766	2.798000	0.96311	0.655000	0.94253	GAG		0.587	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2		NM_018718		53	128	0	0	0	0.00361	0	53	128		
KMT2C	58508	broad.mit.edu	37	7	151846037	151846037	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:151846037C>T	ENST00000262189.6	-	52	13193	c.12975G>A	c.(12973-12975)ctG>ctA	p.L4325L	KMT2C_ENST00000355193.2_Silent_p.L4382L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4325					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L4382L(1)|p.L4325L(1)									CTGTCACCTTCAGCTCATCTG	0.542																																						uc003wla.2		NaN								N							medulloblastoma		2	Substitution - coding silent(2)		kidney(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(12973-12975)CTG>CTA		myeloid/lymphoid or mixed-lineage leukemia 3							57.0	51.0	53.0					7																	151846037		2203	4300	6503	SO:0001819	synonymous_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151846037C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12975G>A	7.37:g.151846037C>T						MLL3_uc003wkz.2_Silent_p.L3443L|MLL3_uc003wkx.2_Silent_p.L483L|MLL3_uc003wky.2_Silent_p.L1889L	p.L4325L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	52	13194	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	4325					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.12975G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	5.838	0.338848	0.11069	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.67	-11.3	0.00108	.	.	.	.	.	T	0.55146	0.1902	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69083	-0.5239	4	.	.	.	.	13.1089	0.59263	0.2636:0.4532:0.2831:0.0	.	.	.	.	K	1886	.	.	E	-	1	0	MLL3	151476970	0.000000	0.05858	0.285000	0.24819	0.982000	0.71751	-3.018000	0.00644	-2.725000	0.00387	-0.275000	0.10095	GAA		0.542	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				5	25	0	0	0	0.000602	0	5	25		
ST18	9705	broad.mit.edu	37	8	53084872	53084872	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:53084872C>T	ENST00000276480.7	-	10	1232	c.549G>A	c.(547-549)caG>caA	p.Q183Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	183					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGAAGGGTGGCTGAGAATCAT	0.448																																						uc003xqz.2		NaN																	0				ovary(4)|skin(1)	5						c.(547-549)CAG>CAA		suppression of tumorigenicity 18							111.0	101.0	104.0					8																	53084872		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084872C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.549G>A	8.37:g.53084872C>T						ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.Q148Q|ST18_uc011lds.1_Silent_p.Q88Q|ST18_uc003xra.2_Silent_p.Q183Q|ST18_uc003xrb.2_Silent_p.Q183Q	p.Q183Q	NM_014682	NP_055497	O60284	ST18_HUMAN			5	705	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	183					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.549G>A	CCDS6149.1																																																																																				0.448	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1				31	74	0	0	0	0.007291	0	31	74		
ARFGEF1	10565	broad.mit.edu	37	8	68112663	68112663	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:68112663G>A	ENST00000262215.3	-	38	5742	c.5353C>T	c.(5353-5355)Cta>Tta	p.L1785L	ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000518230.1_Silent_p.L623L|ARFGEF1_ENST00000520381.1_Silent_p.L1239L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1785					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACTTTAGTTAGAAACAAAAGC	0.433																																						uc003xxo.1		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(5353-5355)CTA>TTA		brefeldin A-inhibited guanine							117.0	116.0	117.0					8																	68112663		2203	4300	6503	SO:0001819	synonymous_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68112663G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.5353C>T	8.37:g.68112663G>A						ARFGEF1_uc003xxl.1_Silent_p.L1239L|ARFGEF1_uc003xxm.1_Silent_p.L188L|ARFGEF1_uc003xxn.1_Silent_p.L730L|ARFGEF1_uc003xxp.1_Silent_p.L47L	p.L1785L	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		38	5743	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1785					Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	37	c.5353C>T	CCDS6199.1																																																																																				0.433	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4		NM_006421		15	47	0	0	0	0.003163	0	15	47		
PREX2	80243	broad.mit.edu	37	8	69030845	69030845	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:69030845C>T	ENST00000288368.4	+	27	3664	c.3387C>T	c.(3385-3387)tgC>tgT	p.C1129C		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1129					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCAGCCAGTGCAGCTCGTATT	0.448																																						uc003xxv.1		NaN																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(3385-3387)TGC>TGT		DEP domain containing 2 isoform a							145.0	130.0	135.0					8																	69030845		2203	4300	6503	SO:0001819	synonymous_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69030845C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3387C>T	8.37:g.69030845C>T							p.C1129C	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			27	3414	+			1129					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.3387C>T	CCDS6201.1																																																																																				0.448	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1		NM_025170		31	71	0	0	0	0.002445	0	31	71		
LRRCC1	85444	broad.mit.edu	37	8	86041588	86041588	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:86041588C>A	ENST00000360375.3	+	10	1749	c.1600C>A	c.(1600-1602)Caa>Aaa	p.Q534K	LRRCC1_ENST00000414626.2_Missense_Mutation_p.Q514K	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	534					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AATGGAGAGACAAAAAAGGCA	0.328																																						uc003ycw.2		NaN																	0					0						c.(1600-1602)CAA>AAA		sodium channel associated protein 2 isoform a							86.0	90.0	89.0					8																	86041588		1848	4098	5946	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86041588C>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1600C>A	8.37:g.86041588C>A	ENSP00000353538:p.Gln534Lys					LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Missense_Mutation_p.Q235K|LRRCC1_uc003ycx.2_Missense_Mutation_p.Q441K|LRRCC1_uc003ycy.2_Missense_Mutation_p.Q514K	p.Q534K	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			10	1754	+			534			Potential.		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.1600C>A	CCDS43750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.32|18.32	3.597802|3.597802	0.66332|0.66332	.|.	.|.	ENSG00000133739|ENSG00000133739	ENST00000360375;ENST00000414626|ENST00000426019	T;T|.	0.30981|.	1.51;1.51|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.37393|.	N|.	0.002103|.	T|T	0.75384|0.75384	0.3842|0.3842	M|M	0.65975|0.65975	2.015|2.015	0.44439|0.44439	D|D	0.997361|0.997361	P;D;P;D|.	0.71674|.	0.925;0.998;0.925;0.964|.	B;D;B;P|.	0.78314|.	0.443;0.991;0.443;0.632|.	T|T	0.72350|0.72350	-0.4320|-0.4320	10|5	0.39692|.	T|.	0.17|.	-19.3563|-19.3563	19.9695|19.9695	0.97278|0.97278	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	441;514;441;534|.	B4DV06;Q9C099-2;E9PE41;Q9C099|.	.;.;.;LRCC1_HUMAN|.	K|K	534;514|253	ENSP00000353538:Q534K;ENSP00000394695:Q514K|.	ENSP00000353538:Q534K|.	Q|T	+|+	1|2	0|0	LRRCC1|LRRCC1	86228840|86228840	1.000000|1.000000	0.71417|0.71417	0.899000|0.899000	0.35326|0.35326	0.903000|0.903000	0.53119|0.53119	5.281000|5.281000	0.65609|0.65609	2.799000|2.799000	0.96334|0.96334	0.650000|0.650000	0.86243|0.86243	CAA|ACA		0.328	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1		NM_033402		28	84	1	0	3.69857e-22	0.008361	7.00529e-22	28	84		
KCNQ3	3786	broad.mit.edu	37	8	133153445	133153445	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:133153445A>C	ENST00000388996.4	-	10	1816	c.1396T>G	c.(1396-1398)Tta>Gta	p.L466V	KCNQ3_ENST00000519445.1_Missense_Mutation_p.L466V|KCNQ3_ENST00000521134.1_Missense_Mutation_p.L346V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	466					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TTATTGTTTAAGCCAACAGGC	0.443																																						uc003ytj.2		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1396-1398)TTA>GTA		potassium voltage-gated channel KQT-like protein							136.0	140.0	139.0					8																	133153445		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133153445A>C	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1396T>G	8.37:g.133153445A>C	ENSP00000373648:p.Leu466Val					KCNQ3_uc010mdt.2_Missense_Mutation_p.L466V	p.L466V	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		10	1621	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		466					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1396T>G	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.412664	0.62511	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99594	-6.25;-6.25;-6.25	5.63	5.63	0.86233	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.135223	0.51477	D	0.000098	D	0.98046	0.9356	N	0.22421	0.69	0.46901	D	0.999247	B;B	0.26975	0.052;0.165	B;B	0.24701	0.055;0.055	D	0.97394	0.9991	10	0.66056	D	0.02	-4.3207	15.0511	0.71872	1.0:0.0:0.0:0.0	.	466;466	E7ET42;O43525	.;KCNQ3_HUMAN	V	466;346;466;455;345	ENSP00000373648:L466V;ENSP00000429799:L346V;ENSP00000428790:L466V	ENSP00000373648:L466V	L	-	1	2	KCNQ3	133222627	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.196000	0.77805	2.145000	0.66743	0.533000	0.62120	TTA		0.443	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2		NM_004519		30	78	0	0	0	0.002836	0	30	78		
PTP4A3	11156	broad.mit.edu	37	8	142437047	142437047	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:142437047G>A	ENST00000521578.1	+	4	1152	c.207G>A	c.(205-207)ccG>ccA	p.P69P	PTP4A3_ENST00000524028.1_Intron|PTP4A3_ENST00000349124.1_Silent_p.P69P|PTP4A3_ENST00000329397.1_Silent_p.P69P|PTP4A3_ENST00000520105.1_Silent_p.P69P			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	69					peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			AGGACTGGCCGTTTGACGATG	0.672																																						uc003ywg.1		NaN																	0					0						c.(205-207)CCG>CCA		protein tyrosine phosphatase type IVA, member 3							96.0	114.0	108.0					8																	142437047		2203	4299	6502	SO:0001819	synonymous_variant	11156					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:142437047G>A	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.207G>A	8.37:g.142437047G>A						PTP4A3_uc003ywh.1_Silent_p.P69P|PTP4A3_uc010met.1_Intron	p.P69P	NM_032611	NP_116000	O75365	TP4A3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0474)		3	541	+	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		69					Q8IVN5|Q99849|Q9BTW5	Silent	SNP	ENST00000521578.1	37	c.207G>A	CCDS6383.1																																																																																				0.672	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1		NM_032611		61	100	0	0	0	0.00361	0	61	100		
FAM83H	286077	broad.mit.edu	37	8	144808670	144808670	+	Silent	SNP	G	G	A	rs191891370	byFrequency	TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:144808670G>A	ENST00000388913.3	-	5	3086	c.2961C>T	c.(2959-2961)ttC>ttT	p.F987F		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	987					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGGCACTGGGAAGCCACCCT	0.697													g|||	2	0.000399361	0.0015	0.0	5008	,	,		14052	0.0		0.0	False		,,,				2504	0.0					uc003yzk.2		NaN																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(2959-2961)TTC>TTT		FAM83H							12.0	14.0	14.0					8																	144808670		1969	4114	6083	SO:0001819	synonymous_variant	286077				biomineral tissue development			g.chr8:144808670G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.2961C>T	8.37:g.144808670G>A						FAM83H_uc010mfk.1_RNA	p.F987F	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3030	-	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)		987					A0JLS2|Q8N4W0	Silent	SNP	ENST00000388913.3	37	c.2961C>T	CCDS6410.2																																																																																				0.697	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2		NM_198488		4	20	0	0	0	0.000602	0	4	20		
PLEC	5339	broad.mit.edu	37	8	144991585	144991585	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:144991585G>T	ENST00000322810.4	-	32	12984	c.12815C>A	c.(12814-12816)tCc>tAc	p.S4272Y	PLEC_ENST00000354589.3_Missense_Mutation_p.S4135Y|PLEC_ENST00000354958.2_Missense_Mutation_p.S4113Y|PLEC_ENST00000527096.1_Missense_Mutation_p.S4158Y|PLEC_ENST00000357649.2_Missense_Mutation_p.S4139Y|PLEC_ENST00000436759.2_Missense_Mutation_p.S4162Y|PLEC_ENST00000356346.3_Missense_Mutation_p.S4121Y|PLEC_ENST00000398774.2_Missense_Mutation_p.S4103Y|PLEC_ENST00000345136.3_Missense_Mutation_p.S4135Y	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4272	Binding to intermediate filaments. {ECO:0000250}.|Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTTGCGCACGGAGGACTTGGA	0.617																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(12814-12816)TCC>TAC		plectin isoform 1							62.0	68.0	66.0					8																	144991585		2103	4218	6321	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144991585G>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12815C>A	8.37:g.144991585G>T	ENSP00000323856:p.Ser4272Tyr					PLEC_uc003zab.1_Missense_Mutation_p.S4135Y|PLEC_uc003zac.1_Missense_Mutation_p.S4139Y|PLEC_uc003zad.2_Missense_Mutation_p.S4135Y|PLEC_uc003zae.1_Missense_Mutation_p.S4103Y|PLEC_uc003zag.1_Missense_Mutation_p.S4113Y|PLEC_uc003zah.2_Missense_Mutation_p.S4121Y|PLEC_uc003zaj.2_Missense_Mutation_p.S4162Y	p.S4272Y	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	12985	-			4272			Binding to intermediate filaments (By similarity).|Globular 2.|Plectin 27.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.12815C>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986261	0.35036	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78126	-1.12;-1.12;-1.15;-1.15;-1.13;-1.12;-1.12;-1.12;-1.12	5.08	5.08	0.68730	.	0.000000	0.53938	U	0.000053	D	0.84723	0.5535	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.997;0.999;0.999;0.999;0.999	D	0.86094	0.1552	10	0.87932	D	0	.	18.2584	0.90025	0.0:0.0:1.0:0.0	.	4162;4121;4113;4272;4103;4135;4139;4135	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Y	4135;4139;4135;4103;4272;4113;4121;4162;4158	ENSP00000344848:S4135Y;ENSP00000350277:S4139Y;ENSP00000346602:S4135Y;ENSP00000381756:S4103Y;ENSP00000323856:S4272Y;ENSP00000347044:S4113Y;ENSP00000348702:S4121Y;ENSP00000388180:S4162Y;ENSP00000434583:S4158Y	ENSP00000323856:S4272Y	S	-	2	0	PLEC	145063573	1.000000	0.71417	0.993000	0.49108	0.810000	0.45777	9.578000	0.98200	2.644000	0.89710	0.498000	0.49722	TCC		0.617	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		16	34	1	0	1.15088e-07	0.004007	2.06763e-07	16	34		
PLEC	5339	broad.mit.edu	37	8	145002057	145002057	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:145002057G>C	ENST00000322810.4	-	26	3944	c.3775C>G	c.(3775-3777)Ctc>Gtc	p.L1259V	PLEC_ENST00000354589.3_Missense_Mutation_p.L1122V|PLEC_ENST00000354958.2_Missense_Mutation_p.L1100V|PLEC_ENST00000527096.1_Missense_Mutation_p.L1145V|PLEC_ENST00000357649.2_Missense_Mutation_p.L1126V|PLEC_ENST00000436759.2_Missense_Mutation_p.L1149V|PLEC_ENST00000356346.3_Missense_Mutation_p.L1108V|PLEC_ENST00000398774.2_Missense_Mutation_p.L1090V|PLEC_ENST00000345136.3_Missense_Mutation_p.L1122V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1259	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCTCCGGGAGGGTGGCCGGC	0.692																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(3775-3777)CTC>GTC		plectin isoform 1							12.0	17.0	16.0					8																	145002057		1896	4101	5997	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145002057G>C	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3775C>G	8.37:g.145002057G>C	ENSP00000323856:p.Leu1259Val					PLEC_uc003zab.1_Missense_Mutation_p.L1122V|PLEC_uc003zac.1_Missense_Mutation_p.L1126V|PLEC_uc003zad.2_Missense_Mutation_p.L1122V|PLEC_uc003zae.1_Missense_Mutation_p.L1090V|PLEC_uc003zag.1_Missense_Mutation_p.L1100V|PLEC_uc003zah.2_Missense_Mutation_p.L1108V|PLEC_uc003zaj.2_Missense_Mutation_p.L1149V	p.L1259V	NM_201380	NP_958782	Q15149	PLEC_HUMAN			26	3945	-			1259			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.3775C>G	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	2.193	-0.384852	0.04966	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.44	4.56	0.56223	.	1.202660	0.06341	U	0.707989	T	0.41926	0.1180	L	0.41824	1.3	0.09310	N	1	B;B;B;B;B;B;B;B	0.15473	0.005;0.005;0.005;0.013;0.005;0.005;0.005;0.005	B;B;B;B;B;B;B;B	0.12156	0.007;0.007;0.007;0.003;0.007;0.007;0.007;0.007	T	0.41142	-0.9525	10	0.48119	T	0.1	.	15.1261	0.72483	0.0:0.268:0.7319:0.0	.	1149;1108;1100;1259;1090;1122;1126;1122	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	1122;1126;1122;1090;1259;1100;1108;1149;1145	ENSP00000344848:L1122V;ENSP00000350277:L1126V;ENSP00000346602:L1122V;ENSP00000381756:L1090V;ENSP00000323856:L1259V;ENSP00000347044:L1100V;ENSP00000348702:L1108V;ENSP00000388180:L1149V;ENSP00000434583:L1145V	ENSP00000323856:L1259V	L	-	1	0	PLEC	145074045	0.990000	0.36364	0.661000	0.29709	0.027000	0.11550	2.316000	0.43761	1.268000	0.44264	-0.185000	0.12909	CTC		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		4	5	0	0	0	0.000602	0	4	5		
DOCK8	81704	broad.mit.edu	37	9	328082	328082	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:328082C>T	ENST00000453981.1	+	9	1067	c.955C>T	c.(955-957)Cac>Tac	p.H319Y	DOCK8_ENST00000469391.1_Missense_Mutation_p.H251Y|DOCK8_ENST00000432829.2_Missense_Mutation_p.H251Y			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	319					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCTGCGAGCTCACACGCCTTC	0.458																																						uc003zgf.2		NaN																	0				ovary(3)|central_nervous_system(3)	6						c.(955-957)CAC>TAC		dedicator of cytokinesis 8							115.0	104.0	108.0					9																	328082		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:328082C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.955C>T	9.37:g.328082C>T	ENSP00000408464:p.His319Tyr					DOCK8_uc011lls.1_Missense_Mutation_p.H319Y|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.H251Y|DOCK8_uc003zgg.2_Missense_Mutation_p.H251Y|DOCK8_uc003zgh.2_RNA	p.H319Y	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	9	1067	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	319					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.955C>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896492	0.72639	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391	T;T;T	0.39056	1.1;1.1;1.1	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.51176	0.1659	M	0.76574	2.34	0.80722	D	1	P;P	0.39847	0.571;0.691	B;B	0.43274	0.272;0.414	T	0.42531	-0.9446	10	0.17832	T	0.49	.	19.8738	0.96861	0.0:1.0:0.0:0.0	.	251;319	E9PH09;Q8NF50	.;DOCK8_HUMAN	Y	319;319;251;251	ENSP00000408464:H319Y;ENSP00000394888:H251Y;ENSP00000419438:H251Y	ENSP00000287364:H319Y	H	+	1	0	DOCK8	318082	1.000000	0.71417	0.995000	0.50966	0.610000	0.37248	5.700000	0.68318	2.798000	0.96311	0.650000	0.86243	CAC		0.458	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5		XM_036307		12	71	0	0	0	0.000978	0	12	71		
HAUS6	54801	broad.mit.edu	37	9	19050318	19050318	+	IGR	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:19050318G>C	ENST00000380502.3	-	0	6536				RRAGA_ENST00000380527.1_Missense_Mutation_p.E221Q	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCAGTGCAAAGAGCAGCGCGA	0.478																																						uc003znj.2		NaN																	0					0						c.(661-663)GAG>CAG		Ras-related GTP binding A							135.0	123.0	127.0					9																	19050318		2203	4300	6503	SO:0001628	intergenic_variant	10670				apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity	g.chr9:19050318G>C	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622		9.37:g.19050318G>C							p.E221Q	NM_006570	NP_006561	Q7L523	RRAGA_HUMAN			1	947	+			221					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.661G>C	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223310	0.39300	.	.	ENSG00000155876	ENST00000380527	T	0.66099	-0.19	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.44561	0.1299	N	0.16016	0.355	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.29027	-1.0025	10	0.25106	T	0.35	-2.808	15.2625	0.73634	0.0:0.0:1.0:0.0	.	221	Q7L523	RRAGA_HUMAN	Q	221	ENSP00000369899:E221Q	ENSP00000369899:E221Q	E	+	1	0	RRAGA	19040318	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.929000	0.92859	2.735000	0.93741	0.655000	0.94253	GAG		0.478	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1		NM_017645		36	117	0	0	0	0.006999	0	36	117		
RUSC2	9853	broad.mit.edu	37	9	35561306	35561306	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:35561306C>T	ENST00000455600.1	+	12	5047	c.4478C>T	c.(4477-4479)tCt>tTt	p.S1493F	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1493	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCCGACTCTGGCCTGGTG	0.647																																						uc003zww.2		NaN																	0				ovary(1)	1						c.(4477-4479)TCT>TTT		RUN and SH3 domain containing 2							49.0	61.0	57.0					9																	35561306		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35561306C>T	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.4478C>T	9.37:g.35561306C>T	ENSP00000393922:p.Ser1493Phe					RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.S1493F	p.S1493F	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		12	4733	+			1493			SH3.		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.4478C>T	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886221	0.33348	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.07800	3.16;3.16	5.39	3.43	0.39272	Src homology-3 domain (3);Variant SH3 (1);	0.491076	0.22819	N	0.055247	T	0.07818	0.0196	L	0.48935	1.535	0.22961	N	0.9985	B	0.24768	0.111	B	0.27262	0.078	T	0.24835	-1.0149	10	0.62326	D	0.03	-4.5504	3.7963	0.08740	0.2521:0.5348:0.1286:0.0845	.	1493	Q8N2Y8	RUSC2_HUMAN	F	1493	ENSP00000355177:S1493F;ENSP00000393922:S1493F	ENSP00000355177:S1493F	S	+	2	0	RUSC2	35551306	0.148000	0.22702	0.985000	0.45067	0.997000	0.91878	0.531000	0.23052	1.413000	0.46997	0.650000	0.86243	TCT		0.647	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1		XM_048462		25	87	0	0	0	0.007291	0	25	87		
RECK	8434	broad.mit.edu	37	9	36110040	36110040	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:36110040G>A	ENST00000377966.3	+	15	2418	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	618					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TTGCCTCAGTGAGCACAGTTC	0.478																																						uc003zyv.2		NaN																	0				skin(2)|ovary(1)	3						c.(1852-1854)GAG>AAG		RECK protein precursor							241.0	187.0	205.0					9																	36110040		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36110040G>A	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1852G>A	9.37:g.36110040G>A	ENSP00000367202:p.Glu618Lys					RECK_uc003zyw.2_Missense_Mutation_p.E490K|RECK_uc003zyx.2_RNA	p.E618K	NM_021111	NP_066934	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		15	1938	+			618					B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.1852G>A	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835106	0.50951	.	.	ENSG00000122707	ENST00000377966	T	0.43294	0.95	5.42	5.42	0.78866	.	0.279927	0.36444	N	0.002600	T	0.30230	0.0758	L	0.36672	1.1	0.36258	D	0.854371	P;P	0.35328	0.495;0.495	B;B	0.30716	0.119;0.119	T	0.23797	-1.0178	10	0.10377	T	0.69	-12.8665	15.0799	0.72106	0.0:0.0:1.0:0.0	.	618;618	A8K9D8;O95980	.;RECK_HUMAN	K	618	ENSP00000367202:E618K	ENSP00000367202:E618K	E	+	1	0	RECK	36100040	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.201000	0.51059	2.711000	0.92665	0.655000	0.94253	GAG		0.478	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1				34	122	0	0	0	0.002096	0	34	122		
CEP78	84131	broad.mit.edu	37	9	80881596	80881596	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:80881596C>G	ENST00000424347.2	+	15	2325	c.2036C>G	c.(2035-2037)tCt>tGt	p.S679C	CEP78_ENST00000376598.2_Missense_Mutation_p.S695C|CEP78_ENST00000415759.2_Missense_Mutation_p.S680C|CEP78_ENST00000277082.5_Missense_Mutation_p.S679C|CEP78_ENST00000376597.4_Missense_Mutation_p.S696C			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	679					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AGCAGATCTTCTTCAGAGAAA	0.418																																						uc004akx.2		NaN																	0				ovary(1)	1						c.(2035-2037)TCT>TGT		centrosomal protein 78kDa isoform b							56.0	50.0	52.0					9																	80881596		1858	4118	5976	SO:0001583	missense	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80881596C>G	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.2036C>G	9.37:g.80881596C>G	ENSP00000411284:p.Ser679Cys					CEP78_uc004aky.3_Missense_Mutation_p.S696C|CEP78_uc010mpp.2_Missense_Mutation_p.S680C|CEP78_uc004akz.1_Missense_Mutation_p.S167C	p.S679C	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN			15	2312	+			679					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	ENST00000424347.2	37	c.2036C>G		.	.	.	.	.	.	.	.	.	.	C	12.33	1.904834	0.33628	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.39787	1.09;1.3;1.08;1.12;1.06	6.17	5.28	0.74379	.	0.409870	0.23799	N	0.044448	T	0.47985	0.1475	M	0.64997	1.995	0.09310	N	1	P;D;P	0.53885	0.938;0.963;0.938	B;P;B	0.50378	0.436;0.639;0.436	T	0.49031	-0.8981	10	0.56958	D	0.05	-2.0119	8.8463	0.35172	0.0:0.8276:0.0:0.1724	.	680;696;679	E9PHX5;Q5JTW2-2;Q5JTW2	.;.;CEP78_HUMAN	C	679;695;680;696;679;695	ENSP00000411284:S679C;ENSP00000399286:S680C;ENSP00000365782:S696C;ENSP00000277082:S679C;ENSP00000365783:S695C	ENSP00000277082:S679C	S	+	2	0	CEP78	80071416	0.077000	0.21312	0.097000	0.21041	0.907000	0.53573	1.104000	0.31074	1.620000	0.50308	0.655000	0.94253	TCT		0.418	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2		XM_095991		5	19	0	0	0	0.001984	0	5	19		
TLE4	7091	broad.mit.edu	37	9	82335206	82335206	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:82335206G>A	ENST00000376552.2	+	16	2854	c.1836G>A	c.(1834-1836)gtG>gtA	p.V612V	TLE4_ENST00000376544.3_Silent_p.V543V|TLE4_ENST00000376534.4_Silent_p.V249V|TLE4_ENST00000376537.4_Silent_p.V644V|TLE4_ENST00000376520.4_Silent_p.V644V|TLE4_ENST00000265284.6_Silent_p.V587V	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	612					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGACCTTGGTGAGGTAGGTTA	0.522																																						uc004ald.2		NaN																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1909-1911)GTG>GTA		transducin-like enhancer protein 4							49.0	51.0	50.0					9																	82335206		2203	4300	6503	SO:0001819	synonymous_variant	7091							g.chr9:82335206G>A	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1836G>A	9.37:g.82335206G>A						TLE4_uc004alc.2_Silent_p.V612V|TLE4_uc010mpr.2_Silent_p.V491V|TLE4_uc004ale.2_Silent_p.V249V|TLE4_uc011lsq.1_Silent_p.V580V|TLE4_uc010mps.2_Silent_p.V536V|TLE4_uc004alf.2_Silent_p.V551V	p.V637V	NM_007005	NP_008936	O60756	BCE1_HUMAN			17	2760	+			Error:Variant_position_missing_in_O60756_after_alignment					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	c.1911G>A	CCDS43837.1																																																																																				0.522	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4		XM_212237		12	40	0	0	0	0.000978	0	12	40		
BICD2	23299	broad.mit.edu	37	9	95482616	95482616	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:95482616G>C	ENST00000375512.3	-	4	1095	c.1028C>G	c.(1027-1029)tCt>tGt	p.S343C	BICD2_ENST00000356884.6_Missense_Mutation_p.S343C	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	343					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGGATCTCAGAGATGTTGAG	0.632																																						uc004aso.1		NaN																	0				skin(1)	1						c.(1027-1029)TCT>TGT		bicaudal D homolog 2 isoform 2							55.0	56.0	56.0					9																	95482616		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95482616G>C	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1028C>G	9.37:g.95482616G>C	ENSP00000364662:p.Ser343Cys					BICD2_uc004asp.1_Missense_Mutation_p.S343C	p.S343C	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN			4	1085	-			343			Potential.		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1028C>G	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060971	0.55432	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.52526	0.66;0.66	4.89	4.89	0.63831	.	0.060491	0.64402	D	0.000002	T	0.44265	0.1285	L	0.46157	1.445	0.80722	D	1	B;B	0.23650	0.073;0.089	B;B	0.22152	0.038;0.03	T	0.44065	-0.9352	10	0.66056	D	0.02	-10.8349	15.9404	0.79750	0.0:0.0:1.0:0.0	.	343;343	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	C	343	ENSP00000349351:S343C;ENSP00000364662:S343C	ENSP00000349351:S343C	S	-	2	0	BICD2	94522437	1.000000	0.71417	0.948000	0.38648	0.839000	0.47603	9.734000	0.98822	2.428000	0.82296	0.557000	0.71058	TCT		0.632	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1		NM_015250		29	38	0	0	0	0.007291	0	29	38		
BICD2	23299	broad.mit.edu	37	9	95482948	95482948	+	Silent	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:95482948G>T	ENST00000375512.3	-	4	763	c.696C>A	c.(694-696)ctC>ctA	p.L232L	BICD2_ENST00000356884.6_Silent_p.L232L	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	232					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGATCTCCTTGAGGCGGATGG	0.587																																						uc004aso.1		NaN																	0				skin(1)	1						c.(694-696)CTC>CTA		bicaudal D homolog 2 isoform 2							77.0	80.0	79.0					9																	95482948		2203	4300	6503	SO:0001819	synonymous_variant	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95482948G>T	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.696C>A	9.37:g.95482948G>T						BICD2_uc004asp.1_Silent_p.L232L	p.L232L	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN			4	753	-			232			Potential.		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Silent	SNP	ENST00000375512.3	37	c.696C>A	CCDS6700.1																																																																																				0.587	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1		NM_015250		44	63	1	0	1.06522e-23	0.003214	2.02807e-23	44	63		
GABBR2	9568	broad.mit.edu	37	9	101125057	101125057	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:101125057G>C	ENST00000259455.2	-	13	2292	c.1833C>G	c.(1831-1833)atC>atG	p.I611M		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	611					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGCAGATCAGGATACACAGGT	0.592																																						uc004ays.2		NaN																	0				ovary(2)|skin(2)	4						c.(1831-1833)ATC>ATG		G protein-coupled receptor 51 precursor	Baclofen(DB00181)						91.0	71.0	78.0					9																	101125057		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101125057G>C	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1833C>G	9.37:g.101125057G>C	ENSP00000259455:p.Ile611Met						p.I611M	NM_005458	NP_005449	O75899	GABR2_HUMAN			13	1989	-		Acute lymphoblastic leukemia(62;0.0527)	611			Helical; Name=4; (Potential).		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.1833C>G	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204850	0.58234	.	.	ENSG00000136928	ENST00000259455	D	0.90261	-2.64	5.64	1.5	0.22942	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94578	0.8253	M	0.90870	3.155	0.58432	D	0.999997	D	0.76494	0.999	D	0.87578	0.998	D	0.92087	0.5677	10	0.87932	D	0	.	3.7756	0.08659	0.2329:0.0:0.4694:0.2976	.	611	O75899	GABR2_HUMAN	M	611	ENSP00000259455:I611M	ENSP00000259455:I611M	I	-	3	3	GABBR2	100164878	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.646000	0.37249	0.760000	0.33108	-0.739000	0.03532	ATC		0.592	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1				8	34	0	0	0	0.00308	0	8	34		
TEX10	54881	broad.mit.edu	37	9	103092428	103092428	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:103092428G>C	ENST00000374902.4	-	6	1450	c.1274C>G	c.(1273-1275)tCc>tGc	p.S425C	TEX10_ENST00000537512.1_Missense_Mutation_p.S360C|TEX10_ENST00000535814.1_Missense_Mutation_p.S428C	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	425						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TATGTTATTGGAGAGAACTGT	0.373																																						uc004bas.2		NaN																	0				ovary(1)|skin(1)	2						c.(1273-1275)TCC>TGC		testis expressed 10 isoform 1							129.0	124.0	126.0					9																	103092428		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103092428G>C	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1274C>G	9.37:g.103092428G>C	ENSP00000364037:p.Ser425Cys					TEX10_uc011lvf.1_Missense_Mutation_p.S264C|TEX10_uc011lvg.1_Missense_Mutation_p.S428C|TEX10_uc011lvh.1_Missense_Mutation_p.S360C	p.S425C	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	6	1489	-		Acute lymphoblastic leukemia(62;0.0527)	425					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.1274C>G	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341852	0.41498	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000429235;ENST00000537512	T;T;T	0.64991	-0.13;-0.13;-0.13	5.18	3.31	0.37934	Armadillo-type fold (1);	0.276698	0.37761	N	0.001958	T	0.60287	0.2257	L	0.44542	1.39	0.24214	N	0.995468	D;P;D;P	0.67145	0.973;0.89;0.996;0.89	B;B;P;B	0.53360	0.43;0.215;0.724;0.215	T	0.52961	-0.8505	10	0.62326	D	0.03	0.1537	7.2493	0.26140	0.1483:0.0:0.7134:0.1382	.	360;428;293;425	B7Z9D5;B4DYV2;E7ERG2;Q9NXF1	.;.;.;TEX10_HUMAN	C	428;425;293;70;360	ENSP00000444555:S428C;ENSP00000364037:S425C;ENSP00000438120:S360C	ENSP00000364037:S425C	S	-	2	0	TEX10	102132249	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	2.563000	0.45922	1.316000	0.45131	0.655000	0.94253	TCC		0.373	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1		NM_017746		38	95	0	0	0	0.002522	0	38	95		
OR13C3	138803	broad.mit.edu	37	9	107298443	107298443	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:107298443C>A	ENST00000374781.2	-	1	694	c.652G>T	c.(652-654)Gcc>Tcc	p.A218S		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TCAGCACAGGCCAGCTTGAGG	0.383																																					GBM(86;1248 1274 14222 15028 46219)	uc004bcb.1		NaN																	0				pancreas(1)	1						c.(652-654)GCC>TCC		olfactory receptor, family 13, subfamily C,							108.0	107.0	107.0					9																	107298443		2203	4300	6503	SO:0001583	missense	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298443C>A		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.652G>T	9.37:g.107298443C>A	ENSP00000363913:p.Ala218Ser						p.A218S	NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN			1	652	-			218			Extracellular (Potential).		Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	c.652G>T	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183041	0.57800	.	.	ENSG00000204246	ENST00000374781	T	0.00021	9.02	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.170756	0.27567	U	0.018782	T	0.00144	0.0004	N	0.17248	0.465	0.20873	N	0.999832	D	0.57257	0.979	P	0.55999	0.789	T	0.66567	-0.5891	10	0.34782	T	0.22	.	9.5854	0.39512	0.209:0.7909:0.0:0.0	.	218	Q8NGS6	O13C3_HUMAN	S	218	ENSP00000363913:A218S	ENSP00000363913:A218S	A	-	1	0	OR13C3	106338264	0.145000	0.22656	0.993000	0.49108	0.984000	0.73092	0.791000	0.26915	2.319000	0.78375	0.591000	0.81541	GCC		0.383	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2				26	76	1	0	2.44723e-14	0.004656	4.56443e-14	26	76		
SNX30	401548	broad.mit.edu	37	9	115567234	115567234	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:115567234G>C	ENST00000374232.3	+	2	499	c.335G>C	c.(334-336)aGg>aCg	p.R112T		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	112	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ATCACCTATAGGATCACCACC	0.458																																						uc004bgj.3		NaN																	0					0						c.(334-336)AGG>ACG		sorting nexin family member 30							179.0	160.0	166.0					9																	115567234		1937	4151	6088	SO:0001583	missense	401548				cell communication|protein transport	cytoplasm	phosphatidylinositol binding	g.chr9:115567234G>C	AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"""Sorting nexins"""	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.335G>C	9.37:g.115567234G>C	ENSP00000363349:p.Arg112Thr						p.R112T	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN			2	483	+			112			PX.			Missense_Mutation	SNP	ENST00000374232.3	37	c.335G>C	CCDS43865.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481359	0.84747	.	.	ENSG00000148158	ENST00000374232	T	0.39056	1.1	5.33	5.33	0.75918	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	N	0.25485	0.75	0.80722	D	1	P	0.44816	0.844	P	0.45712	0.491	T	0.27226	-1.0080	10	0.48119	T	0.1	.	19.0292	0.92948	0.0:0.0:1.0:0.0	.	112	Q5VWJ9	SNX30_HUMAN	T	112	ENSP00000363349:R112T	ENSP00000363349:R112T	R	+	2	0	SNX30	114607055	1.000000	0.71417	0.995000	0.50966	0.941000	0.58515	9.314000	0.96306	2.492000	0.84095	0.563000	0.77884	AGG		0.458	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1				31	84	0	0	0	0.004878	0	31	84		
SLC46A2	57864	broad.mit.edu	37	9	115652749	115652749	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:115652749C>G	ENST00000374228.4	-	1	444	c.213G>C	c.(211-213)caG>caC	p.Q71H		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	71					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						AGATGGCTCTCTGCTGTTGGT	0.632																																						uc004bgk.2		NaN																	0				central_nervous_system(1)	1						c.(211-213)CAG>CAC		solute carrier family 46, member 2							108.0	111.0	110.0					9																	115652749		2203	4300	6503	SO:0001583	missense	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115652749C>G	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.213G>C	9.37:g.115652749C>G	ENSP00000363345:p.Gln71His						p.Q71H	NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN			1	445	-			71			Extracellular (Potential).		B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	ENST00000374228.4	37	c.213G>C	CCDS6786.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646489	0.67358	.	.	ENSG00000119457	ENST00000374228	T	0.59638	0.25	5.11	4.21	0.49690	.	0.055638	0.64402	D	0.000001	T	0.71239	0.3316	M	0.61703	1.905	0.58432	D	0.999994	D	0.89917	1.0	D	0.69479	0.964	T	0.73757	-0.3882	10	0.62326	D	0.03	-14.1396	13.5684	0.61832	0.0:0.9227:0.0:0.0773	.	71	Q9BY10	TSCOT_HUMAN	H	71	ENSP00000363345:Q71H	ENSP00000363345:Q71H	Q	-	3	2	SLC46A2	114692570	1.000000	0.71417	0.933000	0.37362	0.994000	0.84299	2.695000	0.47043	1.139000	0.42245	0.650000	0.86243	CAG		0.632	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1		NM_033051		79	99	0	0	0	0.00361	0	79	99		
AKNA	80709	broad.mit.edu	37	9	117122258	117122258	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:117122258C>G	ENST00000307564.4	-	10	2370	c.2209G>C	c.(2209-2211)Gag>Cag	p.E737Q	AKNA_ENST00000374088.3_Missense_Mutation_p.E737Q|AKNA_ENST00000374075.5_Missense_Mutation_p.E656Q|AKNA_ENST00000312033.3_Missense_Mutation_p.E737Q|AKNA_ENST00000223791.3_Missense_Mutation_p.E197Q	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	737					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGCCTGTCCTCCACCTCACTG	0.622																																						uc004biq.3		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(2209-2211)GAG>CAG		AT-hook transcription factor							97.0	78.0	85.0					9																	117122258		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117122258C>G	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2209G>C	9.37:g.117122258C>G	ENSP00000303769:p.Glu737Gln					AKNA_uc004bin.3_5'UTR|AKNA_uc004bio.3_Missense_Mutation_p.E197Q|AKNA_uc004bip.3_Missense_Mutation_p.E656Q|AKNA_uc004bir.3_Missense_Mutation_p.E737Q|AKNA_uc004bis.3_Missense_Mutation_p.E737Q|AKNA_uc010mve.2_Missense_Mutation_p.E618Q|AKNA_uc004biu.1_Missense_Mutation_p.E478Q|AKNA_uc004biv.1_Missense_Mutation_p.E737Q	p.E737Q	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN			9	2344	-			737					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.2209G>C	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	c	14.73	2.623082	0.46840	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000223791;ENST00000374075;ENST00000312033	T;T;T;T;T	0.46451	2.11;2.11;1.85;2.11;0.87	4.4	3.5	0.40072	.	0.530450	0.17228	N	0.182053	T	0.44393	0.1291	L	0.32530	0.975	0.20074	N	0.999938	D;D	0.69078	0.994;0.997	P;P	0.58266	0.69;0.836	T	0.17048	-1.0382	10	0.51188	T	0.08	-5.6677	8.1878	0.31350	0.0:0.8914:0.0:0.1086	.	737;656	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	Q	737;578;737;197;656;737	ENSP00000303769:E737Q;ENSP00000363201:E737Q;ENSP00000223791:E197Q;ENSP00000363188:E656Q;ENSP00000309222:E737Q	ENSP00000223791:E197Q	E	-	1	0	AKNA	116162079	0.036000	0.19791	0.010000	0.14722	0.464000	0.32679	3.575000	0.53870	1.213000	0.43380	0.450000	0.29827	GAG		0.622	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2		NM_030767		12	53	0	0	0	0.000978	0	12	53		
MEGF9	1955	broad.mit.edu	37	9	123476225	123476225	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:123476225G>C	ENST00000373930.3	-	1	523	c.412C>G	c.(412-414)Cag>Gag	p.Q138E	MEGF9_ENST00000426959.1_Missense_Mutation_p.Q130E	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	138	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						GTCGGCGCCTGAGAGGTGGTC	0.721																																						uc004bkj.1		NaN																	0					0						c.(388-390)CAG>GAG		multiple EGF-like-domains 9							20.0	27.0	25.0					9																	123476225		1878	4074	5952	SO:0001583	missense	1955					integral to membrane	calcium ion binding	g.chr9:123476225G>C	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.412C>G	9.37:g.123476225G>C	ENSP00000363040:p.Gln138Glu					MEGF9_uc011lyb.1_Missense_Mutation_p.Q130E|MEGF9_uc004bkk.3_Missense_Mutation_p.Q130E	p.Q130E	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN			1	388	-			138			Extracellular (Potential).|Pro-rich.		B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	c.388C>G	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682659	0.29872	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.17528	2.31;2.27	3.76	1.83	0.25207	.	1.559350	0.04162	N	0.323160	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	B;B	0.22276	0.067;0.01	B;B	0.12156	0.007;0.005	T	0.25813	-1.0121	10	0.02654	T	1	1.3062	6.2363	0.20764	0.3327:0.0:0.6673:0.0	.	138;130	Q9H1U4;C9J1K8	MEGF9_HUMAN;.	E	138;130	ENSP00000363040:Q138E;ENSP00000392666:Q130E	ENSP00000363040:Q138E	Q	-	1	0	MEGF9	122516046	0.001000	0.12720	0.000000	0.03702	0.031000	0.12232	0.303000	0.19210	0.354000	0.24105	0.585000	0.79938	CAG		0.721	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1		NM_001080497		18	30	0	0	0	0.008871	0	18	30		
CRB2	286204	broad.mit.edu	37	9	126128232	126128232	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:126128232C>T	ENST00000373631.3	+	3	456	c.455C>T	c.(454-456)tCa>tTa	p.S152L	CRB2_ENST00000359999.3_Missense_Mutation_p.S152L|CRB2_ENST00000373629.2_5'Flank	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	152	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GAGTGCGCCTCAGCGCCCTGC	0.706																																						uc004bnx.1		NaN																	0				ovary(1)	1						c.(454-456)TCA>TTA		crumbs homolog 2 precursor							31.0	25.0	27.0					9																	126128232		2193	4284	6477	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126128232C>T	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.455C>T	9.37:g.126128232C>T	ENSP00000362734:p.Ser152Leu					CRB2_uc004bnw.1_Missense_Mutation_p.S152L	p.S152L	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			3	547	+			152			Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.455C>T	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695619	0.68386	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.87650	-2.28;-2.28	4.79	4.79	0.61399	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.39687	N	0.001297	D	0.93311	0.7868	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.92236	0.5796	10	0.25106	T	0.35	.	15.3266	0.74168	0.0:1.0:0.0:0.0	.	152;152	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	L	152	ENSP00000353092:S152L;ENSP00000362734:S152L	ENSP00000353092:S152L	S	+	2	0	CRB2	125168053	0.897000	0.30589	0.829000	0.32907	0.158000	0.22134	3.829000	0.55760	2.186000	0.69663	0.448000	0.29417	TCA		0.706	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3		NM_173689		11	22	0	0	0	0.004007	0	11	22		
DNM1	1759	broad.mit.edu	37	9	130984548	130984548	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:130984548G>C	ENST00000372923.3	+	7	1014	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	DNM1_ENST00000341179.7_Missense_Mutation_p.E308Q|DNM1_ENST00000393594.3_Missense_Mutation_p.E308Q|DNM1_ENST00000486160.1_Missense_Mutation_p.E308Q|DNM1_ENST00000475805.1_Missense_Mutation_p.E308Q	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	308					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						ACTGTCCATTGAGAAGGAGGT	0.582																																					GBM(113;146 1575 2722 28670 29921)	uc011mau.1		NaN																	0				ovary(2)	2						c.(922-924)GAG>CAG		dynamin 1 isoform 1							93.0	87.0	89.0					9																	130984548		2203	4300	6503	SO:0001583	missense	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130984548G>C	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.922G>C	9.37:g.130984548G>C	ENSP00000362014:p.Glu308Gln					DNM1_uc010mxr.2_Missense_Mutation_p.E308Q|DNM1_uc011mat.1_Missense_Mutation_p.E308Q	p.E308Q	NM_004408	NP_004399	Q05193	DYN1_HUMAN			7	1009	+			308					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	c.922G>C	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770957	0.90108	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75	5.93	5.93	0.95920	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	T	0.82171	0.4979	L	0.42744	1.35	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.71870	0.975;0.969;0.972	T	0.77474	-0.2574	10	0.28530	T	0.3	-0.7563	20.3437	0.98782	0.0:0.0:1.0:0.0	.	308;308;308	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	Q	308;308;308;303;308;308	ENSP00000419225:E308Q;ENSP00000345680:E308Q;ENSP00000362014:E308Q;ENSP00000377219:E308Q;ENSP00000420045:E308Q	ENSP00000345680:E308Q	E	+	1	0	DNM1	130024369	1.000000	0.71417	0.975000	0.42487	0.988000	0.76386	9.869000	0.99810	2.821000	0.97095	0.555000	0.69702	GAG		0.582	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1		NM_004408		19	66	0	0	0	0.001523	0	19	66		
SLC27A4	10999	broad.mit.edu	37	9	131115460	131115460	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:131115460G>C	ENST00000300456.4	+	8	1261	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	382					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CCAGGTGGCTGAGTTCTACGG	0.622																																					Pancreas(107;1554 2241 10946 12953)	uc004but.2		NaN																	0					0						c.(1144-1146)GAG>CAG		solute carrier family 27 (fatty acid							47.0	48.0	48.0					9																	131115460		2203	4300	6503	SO:0001583	missense	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131115460G>C	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.1144G>C	9.37:g.131115460G>C	ENSP00000300456:p.Glu382Gln					SLC27A4_uc004buu.2_Intron	p.E382Q	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN			8	1428	+			382					A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	c.1144G>C	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033852	0.93575	.	.	ENSG00000167114	ENST00000300456	T	0.50548	0.74	5.37	5.37	0.77165	AMP-dependent synthetase/ligase (1);	0.047878	0.85682	D	0.000000	T	0.76926	0.4056	M	0.93763	3.455	0.80722	D	1	D	0.63880	0.993	D	0.69142	0.962	T	0.82864	-0.0246	10	0.87932	D	0	-39.5552	18.2906	0.90129	0.0:0.0:1.0:0.0	.	382	Q6P1M0	S27A4_HUMAN	Q	382	ENSP00000300456:E382Q	ENSP00000300456:E382Q	E	+	1	0	SLC27A4	130155281	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	9.263000	0.95617	2.788000	0.95919	0.650000	0.86243	GAG		0.622	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2				15	42	0	0	0	0.003163	0	15	42		
ZER1	10444	broad.mit.edu	37	9	131504959	131504959	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:131504959G>A	ENST00000291900.2	-	9	1831	c.1425C>T	c.(1423-1425)taC>taT	p.Y475Y		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	475					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TGACCCGGCGGTACTGGAATT	0.632																																						uc004bwa.1		NaN																	0				ovary(1)	1						c.(1423-1425)TAC>TAT		zyg-11 homolog B (C. elegans)-like							59.0	49.0	52.0					9																	131504959		2203	4300	6503	SO:0001819	synonymous_variant	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131504959G>A	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1425C>T	9.37:g.131504959G>A							p.Y475Y	NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN			9	1858	-			475					O00156|Q5T272|Q5T273	Silent	SNP	ENST00000291900.2	37	c.1425C>T	CCDS6910.1																																																																																				0.632	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1		NM_006336		12	18	0	0	0	0.001855	0	12	18		
ARSD	414	broad.mit.edu	37	X	2836237	2836237	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:2836237G>A	ENST00000381154.1	-	5	546	c.471C>T	c.(469-471)tcC>tcT	p.S157S	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	157					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GATCCCCGCGGGATGCACAAT	0.557																																						uc004cqy.2		NaN																	0					0						c.(469-471)TCC>TCT		arylsulfatase D isoform a precursor							29.0	17.0	21.0					X																	2836237		2188	4279	6467	SO:0001819	synonymous_variant	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2836237G>A	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.471C>T	X.37:g.2836237G>A						ARSD_uc004cqz.1_Intron|ARSD_uc004cra.1_Silent_p.S157S	p.S157S	NM_001669	NP_001660	P51689	ARSD_HUMAN			5	547	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	157					Q9UHJ8	Silent	SNP	ENST00000381154.1	37	c.471C>T	CCDS35196.1																																																																																				0.557	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1				3	6	0	0	0	0.004672	0	3	6		
APOO	79135	broad.mit.edu	37	X	23898967	23898967	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:23898967C>T	ENST00000379226.4	-	2	343	c.112G>A	c.(112-114)Gat>Aat	p.D38N	APOO_ENST00000379220.3_Missense_Mutation_p.D38N	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	38					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GTTACCTCATCAACCTTCACG	0.413																																						uc004dax.2		NaN																	0					0						c.(112-114)GAT>AAT		apolipoprotein O precursor							82.0	69.0	73.0					X																	23898967		2203	4300	6503	SO:0001583	missense	79135				lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle		g.chrX:23898967C>T	BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"""Apolipoproteins"""	28727	protein-coding gene	gene with protein product		300753	"""family with sequence similarity 121B"""	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.112G>A	X.37:g.23898967C>T	ENSP00000368528:p.Asp38Asn					APOO_uc004daw.2_RNA|APOO_uc004day.3_RNA	p.D38N	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN			2	343	-			38					B2R4K9|Q9H3J9	Missense_Mutation	SNP	ENST00000379226.4	37	c.112G>A	CCDS14208.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484124	0.26598	.	.	ENSG00000184831	ENST00000379226;ENST00000439528;ENST00000379220	T;T;T	0.18810	2.19;2.19;2.19	5.01	3.1	0.35709	.	0.203389	0.50627	N	0.000110	T	0.19886	0.0478	M	0.68593	2.085	0.33889	D	0.63709	B	0.16396	0.017	B	0.23018	0.043	T	0.13045	-1.0524	10	0.34782	T	0.22	-4.0275	4.3951	0.11358	0.0:0.6167:0.0:0.3833	.	38	Q9BUR5	APOO_HUMAN	N	38;18;38	ENSP00000368528:D38N;ENSP00000402557:D18N;ENSP00000368522:D38N	ENSP00000368522:D38N	D	-	1	0	APOO	23808888	1.000000	0.71417	0.987000	0.45799	0.523000	0.34469	1.044000	0.30329	0.502000	0.28037	-0.192000	0.12808	GAT		0.413	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1		NM_024122		10	35	0	0	0	0.006214	0	10	35		
DCAF8L2	347442	broad.mit.edu	37	X	27766328	27766328	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:27766328C>G	ENST00000451261.2	+	5	1715	c.1316C>G	c.(1315-1317)gCc>gGc	p.A439G		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	439								p.A406V(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GAGCTGCTAGCCAGCTACAAT	0.443																																						uc011mjy.1		NaN																	1	Substitution - Missense(1)		skin(1)	central_nervous_system(1)|pancreas(1)	2						c.(1315-1317)GCC>GGC		DDB1 and CUL4 associated factor 8-like 2							156.0	105.0	120.0					X																	27766328		692	1591	2283	SO:0001583	missense	347442							g.chrX:27766328C>G		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1316C>G	X.37:g.27766328C>G	ENSP00000462745:p.Ala439Gly						p.A439G	NM_001136533	NP_001130005					1	1403	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1316C>G	CCDS59162.1																																																																																				0.443	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4		XM_293354		21	37	0	0	0	0.001882	0	21	37		
FAM47A	158724	broad.mit.edu	37	X	34149301	34149301	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:34149301C>T	ENST00000346193.3	-	1	1146	c.1095G>A	c.(1093-1095)gcG>gcA	p.A365A		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	365								p.A365A(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCTTGGGAGGCGCTAGGCGGA	0.632																																						uc004ddg.2		NaN																	1	Substitution - coding silent(1)		endometrium(1)	ovary(4)|central_nervous_system(1)	5						c.(1093-1095)GCG>GCA		hypothetical protein LOC158724							31.0	33.0	32.0					X																	34149301		2199	4297	6496	SO:0001819	synonymous_variant	158724							g.chrX:34149301C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1095G>A	X.37:g.34149301C>T							p.A365A	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1128	-			365					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.1095G>A	CCDS43926.1																																																																																				0.632	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1		NM_203408		15	26	0	0	0	0.00245	0	15	26		
FAM47B	170062	broad.mit.edu	37	X	34962542	34962542	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:34962542C>T	ENST00000329357.5	+	1	1630	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	532								p.R532C(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGACAGGAGACGCCGGGCGGC	0.498																																						uc004ddi.1		NaN																	2	Substitution - Missense(2)		large_intestine(1)|endometrium(1)	ovary(3)|breast(1)	4						c.(1594-1596)CGC>TGC		hypothetical protein LOC170062							94.0	84.0	87.0					X																	34962542		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962542C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1594C>T	X.37:g.34962542C>T	ENSP00000328307:p.Arg532Cys						p.R532C	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	1612	+			532					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1594C>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	5.656	0.305749	0.10733	.	.	ENSG00000189132	ENST00000329357	T	0.41758	0.99	0.602	0.602	0.17535	.	.	.	.	.	T	0.18718	0.0449	N	0.14661	0.345	0.09310	N	1	P	0.36768	0.569	B	0.14023	0.01	T	0.11179	-1.0598	8	0.72032	D	0.01	.	.	.	.	.	532	Q8NA70	FA47B_HUMAN	C	532	ENSP00000328307:R532C	ENSP00000328307:R532C	R	+	1	0	FAM47B	34872463	0.002000	0.14202	0.003000	0.11579	0.002000	0.02628	0.279000	0.18771	0.543000	0.28864	0.292000	0.19580	CGC		0.498	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1		NM_152631		32	74	0	0	0	0.002445	0	32	74		
CXorf22	170063	broad.mit.edu	37	X	35974113	35974113	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:35974113G>A	ENST00000297866.5	+	8	1276	c.1210G>A	c.(1210-1212)Ggc>Agc	p.G404S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	404										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGCACTGACAGGCACAGGACT	0.363																																						uc004ddj.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1210-1212)GGC>AGC		hypothetical protein LOC170063							95.0	89.0	91.0					X																	35974113		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35974113G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1210G>A	X.37:g.35974113G>A	ENSP00000297866:p.Gly404Ser					CXorf22_uc010ngv.2_RNA	p.G404S	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			8	1269	+			404					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1210G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949989	0.53186	.	.	ENSG00000165164	ENST00000297866	T	0.56776	0.44	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.77103	2.36	0.40709	D	0.982551	D	0.89917	1.0	D	0.77557	0.99	T	0.77963	-0.2390	10	0.66056	D	0.02	-10.8601	17.0329	0.86466	0.0:0.0:1.0:0.0	.	404	Q6ZTR5	CX022_HUMAN	S	404	ENSP00000297866:G404S	ENSP00000297866:G404S	G	+	1	0	CXorf22	35884034	1.000000	0.71417	0.971000	0.41717	0.004000	0.04260	6.901000	0.75693	2.318000	0.78349	0.600000	0.82982	GGC		0.363	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2		NM_152632		21	69	0	0	0	0.00333	0	21	69		
SHROOM4	57477	broad.mit.edu	37	X	50339780	50339780	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:50339780C>G	ENST00000289292.7	-	9	4680	c.4397G>C	c.(4396-4398)cGa>cCa	p.R1466P	SHROOM4_ENST00000460112.3_Missense_Mutation_p.R1350P|SHROOM4_ENST00000483955.1_5'Flank|SHROOM4_ENST00000376020.2_Missense_Mutation_p.R1466P			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1466	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTCCAGCTCTCGCTGTTCAAT	0.502																																						uc004dpe.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(4396-4398)CGA>CCA		shroom family member 4							81.0	62.0	68.0					X																	50339780		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50339780C>G	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.4397G>C	X.37:g.50339780C>G	ENSP00000289292:p.Arg1466Pro					SHROOM4_uc004dpd.3_RNA	p.R1466P	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			9	4423	-	Ovarian(276;0.236)		1466			Potential.|ASD2.		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.4397G>C	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.224880	0.58668	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.55052	0.54;0.54;0.54	5.96	5.1	0.69264	Apx/shroom, ASD2 (2);	0.082223	0.47852	D	0.000213	T	0.73032	0.3535	M	0.82132	2.575	0.49389	D	0.999781	D	0.89917	1.0	D	0.97110	1.0	T	0.76906	-0.2786	10	0.87932	D	0	.	13.1635	0.59557	0.0:0.9206:0.0:0.0794	.	1466	Q9ULL8	SHRM4_HUMAN	P	1466;1466;1350	ENSP00000289292:R1466P;ENSP00000365188:R1466P;ENSP00000421450:R1350P	ENSP00000289292:R1466P	R	-	2	0	SHROOM4	50356520	1.000000	0.71417	0.877000	0.34402	0.989000	0.77384	5.668000	0.68074	1.278000	0.44430	0.600000	0.82982	CGA		0.502	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4		NM_020717		26	33	0	0	0	0.005443	0	26	33		
SPANXN5	494197	broad.mit.edu	37	X	52825556	52825556	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:52825556G>C	ENST00000375511.3	-	2	943	c.191C>G	c.(190-192)tCa>tGa	p.S64*		NM_001009616.3	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	64										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					CAGTTGATTTGAATGTATTTT	0.423																																						uc004drc.1		NaN																	0					0						c.(190-192)TCA>TGA		SPANX family, member N5							233.0	190.0	204.0					X																	52825556		2203	4300	6503	SO:0001587	stop_gained	494197							g.chrX:52825556G>C		CCDS35295.1	Xp11.22	2009-03-25				ENSG00000204363			33178	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 10"""	300668				14973187, 17012309	Standard	NM_001009616		Approved	SPANX-N5, CT11.10	uc004drc.1	Q5MJ07		ENST00000375511.3:c.191C>G	X.37:g.52825556G>C	ENSP00000364661:p.Ser64*						p.S64*	NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN			2	191	-	Ovarian(276;0.236)		64						Nonsense_Mutation	SNP	ENST00000375511.3	37	c.191C>G	CCDS35295.1	.	.	.	.	.	.	.	.	.	.	g	36	5.633292	0.96682	.	.	ENSG00000204363	ENST00000375511	.	.	.	0.199	0.199	0.15175	.	.	.	.	.	.	.	.	.	.	.	0.21020	N	0.9998	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	.	.	.	.	.	.	.	X	64	.	ENSP00000364661:S64X	S	-	2	0	SPANXN5	52842281	0.026000	0.19158	0.138000	0.22173	0.137000	0.21094	0.227000	0.17795	0.282000	0.22254	0.287000	0.19450	TCA		0.423	SPANXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056690.2		NM_001009616		37	95	0	0	0	0.00623	0	37	95		
ITIH6	347365	broad.mit.edu	37	X	54777522	54777522	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:54777522C>A	ENST00000218436.6	-	12	3673	c.3644G>T	c.(3643-3645)aGg>aTg	p.R1215M		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1215					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										ACTGGGATGCCTGTAGCGGTG	0.627																																						uc004dtj.2		NaN																	0				lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(3643-3645)AGG>ATG		inter-alpha (globulin) inhibitor H5-like							38.0	30.0	32.0					X																	54777522		2200	4298	6498	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54777522C>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3644G>T	X.37:g.54777522C>A	ENSP00000218436:p.Arg1215Met						p.R1215M	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			12	3674	-			1215					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.3644G>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044389	0.36085	.	.	ENSG00000102313	ENST00000218436	T	0.12465	2.68	3.58	1.63	0.23807	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	1.133610	0.06661	U	0.764531	T	0.12860	0.0312	N	0.14661	0.345	0.23082	N	0.998322	P	0.50710	0.938	P	0.52109	0.69	T	0.19031	-1.0318	10	0.56958	D	0.05	.	3.5422	0.07815	0.1969:0.5627:0.0:0.2404	.	1215	Q6UXX5	ITH5L_HUMAN	M	1215	ENSP00000218436:R1215M	ENSP00000218436:R1215M	R	-	2	0	ITIH5L	54794247	0.392000	0.25229	0.002000	0.10522	0.493000	0.33554	0.277000	0.18734	-0.060000	0.13132	0.287000	0.19450	AGG		0.627	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2		NM_198510		6	12	1	0	3.59834e-05	0.001168	6.32513e-05	6	12		
AMER1	139285	broad.mit.edu	37	X	63412575	63412575	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:63412575C>T	ENST00000330258.3	-	2	864	c.592G>A	c.(592-594)Gag>Aag	p.E198K	AMER1_ENST00000374869.3_Missense_Mutation_p.E198K|AMER1_ENST00000403336.1_Missense_Mutation_p.E198K	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	198					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTGACCCTCTCAGGCCCCTTG	0.577																																						uc004dvo.2		NaN																	67	Whole gene deletion(67)	p.0?(40)	kidney(65)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(592-594)GAG>AAG		family with sequence similarity 123B							49.0	44.0	46.0					X																	63412575		2203	4295	6498	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63412575C>T	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.592G>A	X.37:g.63412575C>T	ENSP00000329117:p.Glu198Lys						p.E198K	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	865	-			198					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.592G>A	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465943	0.26335	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.17854	2.25;2.25;2.25	4.86	4.0	0.46444	.	0.698496	0.14359	N	0.324573	T	0.20373	0.0490	M	0.67953	2.075	0.09310	N	1	B	0.10296	0.003	B	0.14578	0.011	T	0.12656	-1.0539	10	0.32370	T	0.25	-2.1074	11.3278	0.49458	0.0:0.9082:0.0:0.0918	.	198	Q5JTC6	F123B_HUMAN	K	198	ENSP00000364003:E198K;ENSP00000329117:E198K;ENSP00000384722:E198K	ENSP00000329117:E198K	E	-	1	0	FAM123B	63329300	0.025000	0.19082	0.012000	0.15200	0.077000	0.17291	1.679000	0.37597	1.159000	0.42565	0.600000	0.82982	GAG		0.577	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1		NM_152424		18	71	0	0	0	0.006122	0	18	71		
MTMR8	55613	broad.mit.edu	37	X	63488786	63488786	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:63488786C>G	ENST00000374852.3	-	14	1813	c.1746G>C	c.(1744-1746)ctG>ctC	p.L582L	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	582						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CATTCTCCATCAGGGTATTCA	0.483																																						uc004dvs.2		NaN																	2	Whole gene deletion(2)		ovary(1)|large_intestine(1)	ovary(2)|breast(2)	4						c.(1744-1746)CTG>CTC		myotubularin related protein 8							76.0	62.0	67.0					X																	63488786		2203	4300	6503	SO:0001819	synonymous_variant	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63488786C>G	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1746G>C	X.37:g.63488786C>G						MTMR8_uc011mou.1_Intron	p.L582L	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			14	1814	-			582					Q5JT99|Q9NXP6	Silent	SNP	ENST00000374852.3	37	c.1746G>C	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	C	7.099	0.573713	0.13623	.	.	ENSG00000102043	ENST00000442913	.	.	.	2.32	2.32	0.28847	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51903	-0.8646	4	.	.	.	.	7.4861	0.27435	0.0:1.0:0.0:0.0	.	.	.	.	H	386	.	.	D	-	1	0	MTMR8	63405511	1.000000	0.71417	0.965000	0.40720	0.986000	0.74619	1.070000	0.30653	1.462000	0.47948	0.529000	0.55759	GAT		0.483	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2		NM_017677		22	28	0	0	0	0.00278	0	22	28		
ZMYM3	9203	broad.mit.edu	37	X	70471043	70471043	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:70471043C>G	ENST00000353904.2	-	4	950	c.763G>C	c.(763-765)Gat>Cat	p.D255H	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Missense_Mutation_p.D257H|ZMYM3_ENST00000373998.1_Missense_Mutation_p.D255H|ZMYM3_ENST00000373978.1_Missense_Mutation_p.D257H|ZMYM3_ENST00000373988.1_Missense_Mutation_p.D257H|ZMYM3_ENST00000314425.5_Missense_Mutation_p.D255H|ZMYM3_ENST00000373981.1_Missense_Mutation_p.D255H|ZMYM3_ENST00000373984.3_Missense_Mutation_p.D257H	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	255					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCAGTGGAATCTACAACCTCA	0.537																																						uc004dzh.1		NaN																	0				ovary(1)	1						c.(763-765)GAT>CAT		zinc finger protein 261							155.0	129.0	137.0					X																	70471043		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70471043C>G	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.763G>C	X.37:g.70471043C>G	ENSP00000343909:p.Asp255His					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.D255H|ZMYM3_uc004dzj.1_Missense_Mutation_p.D255H|ZMYM3_uc011mpu.1_5'UTR|ZMYM3_uc004dzk.3_Missense_Mutation_p.D255H|ZMYM3_uc004dzl.3_Missense_Mutation_p.D255H|ZMYM3_uc004dzm.3_Missense_Mutation_p.D255H	p.D255H	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			4	850	-	Renal(35;0.156)		255					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.763G>C	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	17.01	3.278462	0.59758	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T	0.51071	1.35;0.76;1.35;1.35;1.35;0.72;0.72	4.6	4.6	0.57074	.	0.300464	0.28521	N	0.015057	T	0.43809	0.1264	N	0.24115	0.695	0.28940	N	0.891034	D;P;P	0.67145	0.996;0.799;0.697	P;B;B	0.56700	0.804;0.386;0.215	T	0.32929	-0.9888	10	0.40728	T	0.16	-9.0408	7.8397	0.29391	0.0:0.8331:0.0:0.1669	.	255;255;255	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	H	255;255;255;257;257;257;255;257	ENSP00000322845:D255H;ENSP00000363110:D255H;ENSP00000343909:D255H;ENSP00000363096:D257H;ENSP00000363100:D257H;ENSP00000363094:D257H;ENSP00000363093:D255H	ENSP00000322845:D255H	D	-	1	0	ZMYM3	70387768	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.064000	0.49986	2.139000	0.66308	0.519000	0.50382	GAT		0.537	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1		NM_201599		14	61	0	0	0	0.006122	0	14	61		
ZMYM3	9203	broad.mit.edu	37	X	70471052	70471052	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:70471052C>T	ENST00000353904.2	-	4	941	c.754G>A	c.(754-756)Gag>Aag	p.E252K	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Missense_Mutation_p.E254K|ZMYM3_ENST00000373998.1_Missense_Mutation_p.E252K|ZMYM3_ENST00000373978.1_Missense_Mutation_p.E254K|ZMYM3_ENST00000373988.1_Missense_Mutation_p.E254K|ZMYM3_ENST00000314425.5_Missense_Mutation_p.E252K|ZMYM3_ENST00000373981.1_Missense_Mutation_p.E252K|ZMYM3_ENST00000373984.3_Missense_Mutation_p.E254K	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	252					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTACAACCTCAGGTTTTGGA	0.532																																						uc004dzh.1		NaN																	0				ovary(1)	1						c.(754-756)GAG>AAG		zinc finger protein 261							150.0	124.0	133.0					X																	70471052		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70471052C>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.754G>A	X.37:g.70471052C>T	ENSP00000343909:p.Glu252Lys					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.E252K|ZMYM3_uc004dzj.1_Missense_Mutation_p.E252K|ZMYM3_uc011mpu.1_5'UTR|ZMYM3_uc004dzk.3_Missense_Mutation_p.E252K|ZMYM3_uc004dzl.3_Missense_Mutation_p.E252K|ZMYM3_uc004dzm.3_Missense_Mutation_p.E252K	p.E252K	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			4	841	-	Renal(35;0.156)		252					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.754G>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	24.4	4.528882	0.85706	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T	0.62498	1.1;0.51;1.1;1.09;1.11;0.02;0.02	4.6	4.6	0.57074	.	0.224041	0.31381	N	0.007754	T	0.66925	0.2839	L	0.29908	0.895	0.39884	D	0.973672	D;D;P	0.69078	0.997;0.974;0.956	D;D;D	0.73380	0.98;0.969;0.931	T	0.62581	-0.6824	10	0.13853	T	0.58	-17.701	16.7966	0.85603	0.0:1.0:0.0:0.0	.	252;252;252	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	K	252;252;252;254;254;254;252;254	ENSP00000322845:E252K;ENSP00000363110:E252K;ENSP00000343909:E252K;ENSP00000363096:E254K;ENSP00000363100:E254K;ENSP00000363094:E254K;ENSP00000363093:E252K	ENSP00000322845:E252K	E	-	1	0	ZMYM3	70387777	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.894000	0.63206	2.139000	0.66308	0.519000	0.50382	GAG		0.532	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1		NM_201599		14	59	0	0	0	0.008871	0	14	59		
OGT	8473	broad.mit.edu	37	X	70787373	70787373	+	Silent	SNP	T	T	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:70787373T>C	ENST00000373719.3	+	20	2830	c.2613T>C	c.(2611-2613)agT>agC	p.S871S	OGT_ENST00000373701.3_Silent_p.S861S	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	871					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTCCCAATAGTGTACTCTGGC	0.398																																						uc004eaa.1		NaN																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(2611-2613)AGT>AGC		O-linked GlcNAc transferase isoform 1							79.0	73.0	75.0					X																	70787373		2203	4300	6503	SO:0001819	synonymous_variant	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70787373T>C	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2613T>C	X.37:g.70787373T>C						BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Silent_p.S861S|OGT_uc004eac.2_Silent_p.S732S|OGT_uc004ead.2_Silent_p.S490S	p.S871S	NM_181672	NP_858058	O15294	OGT1_HUMAN			20	2830	+	Renal(35;0.156)		871					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	ENST00000373719.3	37	c.2613T>C	CCDS14414.1																																																																																				0.398	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3		NM_003605, NM_181672		19	43	0	0	0	0.001523	0	19	43		
P2RY10	27334	broad.mit.edu	37	X	78216602	78216602	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:78216602G>T	ENST00000171757.2	+	4	865	c.585G>T	c.(583-585)ttG>ttT	p.L195F	P2RY10_ENST00000544091.1_Missense_Mutation_p.L195F	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.L195F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CAGTTGCGTTGGTCGGGATGA	0.458																																						uc004ede.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|lung(2)|breast(1)	5						c.(583-585)TTG>TTT		G-protein coupled purinergic receptor P2Y10							162.0	120.0	134.0					X																	78216602		2203	4300	6503	SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216602G>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.585G>T	X.37:g.78216602G>T	ENSP00000171757:p.Leu195Phe					P2RY10_uc004edf.2_Missense_Mutation_p.L195F	p.L195F	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	954	+			195			Helical; Name=5; (Potential).		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.585G>T	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	G	2.833	-0.242124	0.05906	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.37584	1.19;1.19	4.78	1.82	0.25136	GPCR, rhodopsin-like superfamily (1);	1.324970	0.05724	N	0.598223	T	0.31796	0.0808	L	0.31294	0.92	0.09310	N	1	B	0.27765	0.188	B	0.38921	0.285	T	0.40924	-0.9537	10	0.11485	T	0.65	.	8.8858	0.35402	0.3089:0.0:0.6911:0.0	.	195	O00398	P2Y10_HUMAN	F	195	ENSP00000443138:L195F;ENSP00000171757:L195F	ENSP00000171757:L195F	L	+	3	2	P2RY10	78103258	0.000000	0.05858	0.633000	0.29310	0.841000	0.47740	-0.575000	0.05861	0.460000	0.27045	0.417000	0.27973	TTG		0.458	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1				22	61	1	0	1.64113e-05	0.001523	2.89868e-05	22	61		
CPXCR1	53336	broad.mit.edu	37	X	88008581	88008581	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:88008581G>T	ENST00000276127.4	+	3	425	c.166G>T	c.(166-168)Gca>Tca	p.A56S	CPXCR1_ENST00000373111.1_Missense_Mutation_p.A56S	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	56							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GCCAGGCACAGCAACCTCCCA	0.453																																						uc004efd.3		NaN																	0				ovary(3)	3						c.(166-168)GCA>TCA		CPX chromosome region, candidate 1							44.0	43.0	43.0					X																	88008581		2203	4300	6503	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88008581G>T	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.166G>T	X.37:g.88008581G>T	ENSP00000276127:p.Ala56Ser					CPXCR1_uc004efc.3_Missense_Mutation_p.A56S	p.A56S	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			3	425	+			56					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.166G>T	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	G	0.725	-0.781910	0.02929	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.24151	1.87;1.87	3.43	-6.85	0.01681	.	1.947900	0.03132	N	0.165336	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18524	-1.0334	9	.	.	.	.	1.3249	0.02123	0.3704:0.2568:0.2506:0.1222	.	56	Q8N123	CPXCR_HUMAN	S	56	ENSP00000276127:A56S;ENSP00000362203:A56S	.	A	+	1	0	CPXCR1	87895237	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.477000	0.06583	-2.587000	0.00458	-2.812000	0.00111	GCA		0.453	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1		NM_033048		7	28	1	0	8.12818e-05	0.001984	0.000142535	7	28		
PCDH11X	27328	broad.mit.edu	37	X	91873589	91873589	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:91873589C>T	ENST00000373094.1	+	7	4539	c.3694C>T	c.(3694-3696)Cac>Tac	p.H1232Y	PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1195Y|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1222Y|PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1195Y|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1214Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1224Y	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1232					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H1232N(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TACTGCACTTCACCACAGCCC	0.587																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	large_intestine(2)	2						c.(3694-3696)CAC>TAC		protocadherin 11 X-linked isoform c							178.0	149.0	159.0					X																	91873589		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873589C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3694C>T	X.37:g.91873589C>T	ENSP00000362186:p.His1232Tyr					PCDH11X_uc004efl.1_Missense_Mutation_p.H1222Y|PCDH11X_uc004efo.1_Missense_Mutation_p.H1195Y|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.H1224Y|PCDH11X_uc004efn.1_Missense_Mutation_p.H1214Y	p.H1232Y	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4539	+			1232			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3694C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	5.764	0.325274	0.10900	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.52057	0.69;0.7;0.7;0.68;0.7;0.7	3.78	-2.68	0.06041	.	.	.	.	.	T	0.27098	0.0664	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.17268	0.021;0.021;0.021;0.021;0.012	B;B;B;B;B	0.19391	0.013;0.025;0.025;0.025;0.011	T	0.19321	-1.0309	9	0.48119	T	0.1	.	7.3189	0.26515	0.0:0.181:0.1453:0.6737	.	1195;1214;1224;1222;1232	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	Y	1232;1222;1195;1214;1224;1232;1195	ENSP00000362186:H1232Y;ENSP00000362189:H1222Y;ENSP00000362180:H1195Y;ENSP00000355105:H1214Y;ENSP00000384758:H1224Y;ENSP00000298274:H1195Y	ENSP00000298274:H1195Y	H	+	1	0	PCDH11X	91760245	0.000000	0.05858	0.000000	0.03702	0.558000	0.35554	-4.166000	0.00282	-0.726000	0.04895	-0.412000	0.06146	CAC		0.587	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1		NM_032969		39	94	0	0	0	0.00623	0	39	94		
PCDH19	57526	broad.mit.edu	37	X	99663576	99663576	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:99663576G>A	ENST00000373034.4	-	1	1695	c.20C>T	c.(19-21)cCg>cTg	p.P7L	PCDH19_ENST00000255531.7_Missense_Mutation_p.P7L|PCDH19_ENST00000420881.2_Missense_Mutation_p.P7L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	7					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CAGCAGCACCGGCAGCAGGAG	0.682																																						uc010nmz.2		NaN																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(19-21)CCG>CTG		protocadherin 19 isoform b							5.0	5.0	5.0					X																	99663576		1988	4006	5994	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99663576G>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.20C>T	X.37:g.99663576G>A	ENSP00000362125:p.Pro7Leu					PCDH19_uc004efw.3_Missense_Mutation_p.P7L|PCDH19_uc004efx.3_Missense_Mutation_p.P7L	p.P7L	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	1696	-			7					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.20C>T	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411929	0.25465	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.50001	0.76;0.8;0.76	5.7	4.84	0.62591	.	0.204159	0.44688	D	0.000424	T	0.27524	0.0676	N	0.20574	0.59	0.39542	D	0.968832	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.09818	-1.0657	10	0.10377	T	0.69	.	7.761	0.28953	0.0855:0.0:0.7535:0.1611	.	7;7;7	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	L	7	ENSP00000400327:P7L;ENSP00000362125:P7L;ENSP00000255531:P7L	ENSP00000255531:P7L	P	-	2	0	PCDH19	99550232	0.783000	0.28701	1.000000	0.80357	0.996000	0.88848	2.108000	0.41854	1.158000	0.42547	0.544000	0.68410	CCG		0.682	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2		NM_020766		3	5	0	0	0	0.000248	0	3	5		
TCEAL2	140597	broad.mit.edu	37	X	101382355	101382355	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:101382355A>G	ENST00000372780.1	+	3	772	c.553A>G	c.(553-555)Aaa>Gaa	p.K185E	TCEAL2_ENST00000329035.2_Missense_Mutation_p.K185E	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GAGAAAAAGCAAACAGAAATT	0.453																																						uc004eip.2		NaN																	0					0						c.(553-555)AAA>GAA		transcription elongation factor A (SII)-like 2							114.0	121.0	119.0					X																	101382355		2203	4300	6503	SO:0001583	missense	140597				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101382355A>G	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.553A>G	X.37:g.101382355A>G	ENSP00000361866:p.Lys185Glu						p.K185E	NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN			3	772	+			185					B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	c.553A>G	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	-	19.57	3.852309	0.71719	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.12879	2.64;2.64	3.35	2.19	0.27852	.	0.694155	0.13115	N	0.412652	T	0.20861	0.0502	L	0.53249	1.67	0.09310	N	1	D	0.59767	0.986	P	0.56612	0.802	T	0.09357	-1.0678	10	0.40728	T	0.16	.	4.5502	0.12108	0.8465:0.0:0.1535:0.0	.	185	Q9H3H9	TCAL2_HUMAN	E	185	ENSP00000361866:K185E;ENSP00000332359:K185E	ENSP00000332359:K185E	K	+	1	0	TCEAL2	101269011	0.040000	0.19996	0.037000	0.18230	0.997000	0.91878	1.266000	0.33039	0.514000	0.28300	0.481000	0.45027	AAA		0.453	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1		NM_080390		49	143	0	0	0	0.00361	0	49	143		
IRS4	8471	broad.mit.edu	37	X	107975913	107975913	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:107975913C>T	ENST00000372129.2	-	1	3738	c.3662G>A	c.(3661-3663)cGg>cAg	p.R1221Q	RP6-24A23.6_ENST00000563887.1_Missense_Mutation_p.R2Q	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1221					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCTTGGCACCCGGCGACTGCG	0.592																																						uc004eoc.2		NaN																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(3661-3663)CGG>CAG		insulin receptor substrate 4							99.0	101.0	100.0					X																	107975913		2203	4299	6502	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107975913C>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3662G>A	X.37:g.107975913C>T	ENSP00000361202:p.Arg1221Gln						p.R1221Q	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	3695	-			1221						Missense_Mutation	SNP	ENST00000372129.2	37	c.3662G>A	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.385198	0.42308	.	.	ENSG00000133124	ENST00000372129	T	0.35421	1.31	4.39	-3.17	0.05202	.	1.442060	0.04340	N	0.353955	T	0.15003	0.0362	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.07947	-1.0746	10	0.23891	T	0.37	7.5699	0.8023	0.01077	0.361:0.1877:0.2691:0.1822	.	1221	O14654	IRS4_HUMAN	Q	1221	ENSP00000361202:R1221Q	ENSP00000361202:R1221Q	R	-	2	0	IRS4	107862569	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-0.296000	0.08287	-0.979000	0.03529	0.600000	0.82982	CGG		0.592	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1		NM_003604		75	185	0	0	0	0.00361	0	75	185		
NKAP	79576	broad.mit.edu	37	X	119077327	119077327	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:119077327C>G	ENST00000371410.3	-	1	408	c.242G>C	c.(241-243)aGa>aCa	p.R81T		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	81	Ser-rich.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GGGCCGCTCTCTAGAACGCGA	0.662																																						uc004esh.2		NaN																	0				ovary(2)	2						c.(241-243)AGA>ACA		NFKB activating protein							37.0	38.0	38.0					X																	119077327		2202	4300	6502	SO:0001583	missense	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119077327C>G	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.242G>C	X.37:g.119077327C>G	ENSP00000360464:p.Arg81Thr						p.R81T	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN			1	409	-			81			Ser-rich.		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	c.242G>C	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	c	8.581	0.882248	0.17467	.	.	ENSG00000101882	ENST00000371410	T	0.15718	2.4	4.0	3.14	0.36123	.	0.350986	0.28236	N	0.016095	T	0.15955	0.0384	L	0.55990	1.75	0.09310	N	1	P	0.41673	0.759	B	0.37267	0.245	T	0.11446	-1.0587	10	0.62326	D	0.03	-2.5155	10.0564	0.42248	0.2022:0.7978:0.0:0.0	.	81	Q8N5F7	NKAP_HUMAN	T	81	ENSP00000360464:R81T	ENSP00000360464:R81T	R	-	2	0	NKAP	118961355	0.945000	0.32115	0.003000	0.11579	0.001000	0.01503	1.412000	0.34714	1.070000	0.40811	-0.238000	0.12139	AGA		0.662	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1		NM_024528		15	25	0	0	0	0.004007	0	15	25		
GLUD2	2747	broad.mit.edu	37	X	120182792	120182792	+	Silent	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:120182792G>T	ENST00000328078.1	+	1	1331	c.1254G>T	c.(1252-1254)ctG>ctT	p.L418L		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	418					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						AGATCTTCCTGGAGAGAAACA	0.438																																						uc004eto.2		NaN																	0				pancreas(1)	1						c.(1252-1254)CTG>CTT		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						175.0	164.0	168.0					X																	120182792		2203	4300	6503	SO:0001819	synonymous_variant	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182792G>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1254G>T	X.37:g.120182792G>T							p.L418L	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	1331	+			418					B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	37	c.1254G>T	CCDS14603.1																																																																																				0.438	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1		NM_012084		57	187	1	0	7.89702e-26	0.00361	1.50743e-25	57	187		
DCAF12L1	139170	broad.mit.edu	37	X	125685766	125685766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:125685766C>A	ENST00000371126.1	-	1	1068	c.826G>T	c.(826-828)Gaa>Taa	p.E276*		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	276										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCTCCCAGTTCCTGGTTCTTG	0.637																																						uc004eul.2		NaN																	0				skin(3)|ovary(1)	4						c.(826-828)GAA>TAA		DDB1 and CUL4 associated factor 12-like 1							45.0	45.0	45.0					X																	125685766		2203	4300	6503	SO:0001587	stop_gained	139170							g.chrX:125685766C>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.826G>T	X.37:g.125685766C>A	ENSP00000360167:p.Glu276*						p.E276*	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1077	-			276			WD 3.		Q8IYK3	Nonsense_Mutation	SNP	ENST00000371126.1	37	c.826G>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	37	6.478020	0.97598	.	.	ENSG00000198889	ENST00000371126	.	.	.	3.9	3.9	0.45041	.	0.000000	0.36482	N	0.002577	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	10.4451	0.44488	0.0:1.0:0.0:0.0	.	.	.	.	X	276	.	ENSP00000360167:E276X	E	-	1	0	DCAF12L1	125513447	1.000000	0.71417	0.996000	0.52242	0.613000	0.37349	4.402000	0.59722	2.225000	0.72522	0.429000	0.28392	GAA		0.637	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1		NM_178470		11	30	1	0	0.00010058	0.001368	0.000175955	11	30		
BCORL1	63035	broad.mit.edu	37	X	129148662	129148662	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:129148662G>A	ENST00000218147.7	+	4	2111	c.1914G>A	c.(1912-1914)caG>caA	p.Q638Q	BCORL1_ENST00000540052.1_Silent_p.Q638Q|BCORL1_ENST00000359304.2_Silent_p.Q638Q|BCORL1_ENST00000303743.5_Silent_p.Q638Q			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	638	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGCCGAACCAGCGCAAGACAC	0.612																																						uc004evb.1		NaN																	0				ovary(4)|breast(2)|lung(1)	7						c.(1912-1914)CAG>CAA		BCL6 co-repressor-like 1							105.0	85.0	92.0					X																	129148662		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148662G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1914G>A	X.37:g.129148662G>A						BCORL1_uc010nrd.1_Silent_p.Q540Q	p.Q638Q	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	2028	+			638			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.1914G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	3.650	-0.071723	0.07228	.	.	ENSG00000085185	ENST00000441294	.	.	.	5.38	4.47	0.54385	.	.	.	.	.	T	0.58764	0.2145	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55121	-0.8190	4	.	.	.	-11.7083	8.2248	0.31562	0.2767:0.0:0.7233:0.0	.	.	.	.	T	74	.	.	A	+	1	0	BCORL1	128976343	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.761000	0.26489	0.948000	0.37687	0.436000	0.28706	GCG		0.612	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1		NM_021946		28	65	0	0	0	0.00632	0	28	65		
ZNF280C	55609	broad.mit.edu	37	X	129370577	129370577	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:129370577G>C	ENST00000370978.4	-	7	683	c.530C>G	c.(529-531)tCt>tGt	p.S177C		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	177	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTTAGAAGTAGAAGGATGTTT	0.318																																						uc004evm.2		NaN																	0				skin(2)|ovary(1)	3						c.(529-531)TCT>TGT		zinc finger protein 280C							113.0	93.0	100.0					X																	129370577		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129370577G>C	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.530C>G	X.37:g.129370577G>C	ENSP00000360017:p.Ser177Cys					ZNF280C_uc010nrf.1_Missense_Mutation_p.S177C	p.S177C	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN			7	684	-			177			Ser-rich.		A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.530C>G	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250310	0.39797	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.36878	1.23;1.23	4.16	3.27	0.37495	.	.	.	.	.	T	0.42200	0.1192	M	0.72118	2.19	0.09310	N	1	B;B	0.26081	0.141;0.054	B;B	0.34301	0.179;0.16	T	0.43940	-0.9360	9	0.72032	D	0.01	.	10.2077	0.43122	0.0:0.0:0.8:0.2	.	177;177	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	C	177	ENSP00000360017:S177C;ENSP00000408521:S177C	ENSP00000066465:S177C	S	-	2	0	ZNF280C	129198258	0.937000	0.31787	0.001000	0.08648	0.260000	0.26232	3.459000	0.53021	0.863000	0.35553	0.468000	0.43344	TCT		0.318	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1		NM_017666		19	52	0	0	0	0.007413	0	19	52		
BRS3	680	broad.mit.edu	37	X	135572431	135572431	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:135572431C>G	ENST00000370648.3	+	2	802	c.574C>G	c.(574-576)Cga>Gga	p.R192G	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	192					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ATACACTTTTCGAGATCCCAA	0.383																																						uc004ezv.1		NaN																	0				ovary(1)	1						c.(574-576)CGA>GGA		bombesin-like receptor 3							89.0	83.0	85.0					X																	135572431		2203	4300	6503	SO:0001583	missense	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135572431C>G		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.574C>G	X.37:g.135572431C>G	ENSP00000359682:p.Arg192Gly						p.R192G	NM_001727	NP_001718	P32247	BRS3_HUMAN			2	723	+	Acute lymphoblastic leukemia(192;0.000127)		192			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000370648.3	37	c.574C>G	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.609425	0.00842	.	.	ENSG00000102239	ENST00000370648	T	0.38077	1.16	5.14	3.23	0.37069	GPCR, rhodopsin-like superfamily (1);	1.308970	0.05452	N	0.549606	T	0.19366	0.0465	N	0.05554	-0.025	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.12863	-1.0531	10	0.16896	T	0.51	12.2274	7.0431	0.25031	0.3109:0.5935:0.0:0.0956	.	192	P32247	BRS3_HUMAN	G	192	ENSP00000359682:R192G	ENSP00000359682:R192G	R	+	1	2	BRS3	135400097	0.001000	0.12720	0.008000	0.14137	0.023000	0.10783	0.243000	0.18106	2.249000	0.74217	0.594000	0.82650	CGA		0.383	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1		NM_001727		37	54	0	0	0	0.003755	0	37	54		
GPR50	9248	broad.mit.edu	37	X	150349467	150349467	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:150349467C>G	ENST00000218316.3	+	2	1481	c.1412C>G	c.(1411-1413)tCc>tGc	p.S471C	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	471	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCTGCTTCCAGCAACCCC	0.552																																						uc010ntg.1		NaN																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1411-1413)TCC>TGC		G protein-coupled receptor 50							213.0	223.0	220.0					X																	150349467		2115	4222	6337	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349467C>G	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1412C>G	X.37:g.150349467C>G	ENSP00000218316:p.Ser471Cys						p.S471C	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			2	1547	+	Acute lymphoblastic leukemia(192;6.56e-05)		471			Cytoplasmic (Potential).|Pro-rich.		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.1412C>G	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	2.408	-0.335955	0.05278	.	.	ENSG00000102195	ENST00000218316	T	0.75477	-0.94	1.99	1.99	0.26369	.	0.205940	0.24740	N	0.035985	T	0.57975	0.2090	N	0.24115	0.695	0.21020	N	0.999803	B	0.12013	0.005	B	0.06405	0.002	T	0.56968	-0.7891	10	0.87932	D	0	-13.2223	9.4794	0.38891	0.0:1.0:0.0:0.0	.	471	Q13585	MTR1L_HUMAN	C	471	ENSP00000218316:S471C	ENSP00000218316:S471C	S	+	2	0	GPR50	150100125	0.000000	0.05858	0.023000	0.16930	0.242000	0.25591	0.750000	0.26334	1.317000	0.45149	0.529000	0.55759	TCC		0.552	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1		NM_004224		138	288	0	0	0	0.00361	0	138	288		
GPR50	9248	broad.mit.edu	37	X	150349531	150349531	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:150349531C>A	ENST00000218316.3	+	2	1545	c.1476C>A	c.(1474-1476)ttC>ttA	p.F492L	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	492	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCTGCCTTCAGTGCTGCCA	0.572																																						uc010ntg.1		NaN																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1474-1476)TTC>TTA		G protein-coupled receptor 50							114.0	127.0	123.0					X																	150349531		2102	4207	6309	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349531C>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1476C>A	X.37:g.150349531C>A	ENSP00000218316:p.Phe492Leu						p.F492L	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			2	1611	+	Acute lymphoblastic leukemia(192;6.56e-05)		492			Cytoplasmic (Potential).|Pro-rich.		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.1476C>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	7.761	0.705357	0.15172	.	.	ENSG00000102195	ENST00000218316	T	0.72615	-0.67	3.1	2.22	0.28083	.	1.325410	0.05520	N	0.561970	T	0.49457	0.1558	N	0.03608	-0.345	0.19575	N	0.999967	B	0.02656	0.0	B	0.01281	0.0	T	0.38779	-0.9645	10	0.39692	T	0.17	0.0162	9.5059	0.39046	0.0:0.7865:0.2135:0.0	.	492	Q13585	MTR1L_HUMAN	L	492	ENSP00000218316:F492L	ENSP00000218316:F492L	F	+	3	2	GPR50	150100189	0.000000	0.05858	0.019000	0.16419	0.580000	0.36256	-0.632000	0.05489	0.699000	0.31761	0.529000	0.55759	TTC		0.572	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1		NM_004224		87	196	1	0	4.92795e-40	0.00361	9.50575e-40	87	196		
ATP2B3	492	broad.mit.edu	37	X	152818716	152818716	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:152818716G>T	ENST00000349466.2	+	12	2373	c.2047G>T	c.(2047-2049)Gtg>Ttg	p.V683L	ATP2B3_ENST00000263519.4_Missense_Mutation_p.V683L|ATP2B3_ENST00000393842.1_Missense_Mutation_p.V669L|ATP2B3_ENST00000359149.3_Missense_Mutation_p.V683L|ATP2B3_ENST00000370186.1_Missense_Mutation_p.V669L|ATP2B3_ENST00000370181.2_Missense_Mutation_p.V669L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	683					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGACCCTGTGCGGCCCGA	0.632																																						uc004fht.1		NaN																	0				pancreas(1)	1						c.(2047-2049)GTG>TTG		plasma membrane calcium ATPase 3 isoform 3b							95.0	56.0	69.0					X																	152818716		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152818716G>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2047G>T	X.37:g.152818716G>T	ENSP00000343886:p.Val683Leu					ATP2B3_uc004fhs.1_Missense_Mutation_p.V683L	p.V683L	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			11	2173	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		683			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.2047G>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886551	0.91814	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07;-4.07	5.71	5.71	0.89125	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95004	0.8383	L	0.33710	1.025	0.80722	D	1	P;P	0.35807	0.522;0.454	B;B	0.43331	0.254;0.416	D	0.95064	0.8198	10	0.62326	D	0.03	-31.7215	17.4237	0.87521	0.0:0.0:1.0:0.0	.	683;683	Q16720;Q16720-2	AT2B3_HUMAN;.	L	669;683;669;683;683;669	ENSP00000359205:V669L;ENSP00000343886:V683L;ENSP00000377425:V669L;ENSP00000352062:V683L;ENSP00000263519:V683L;ENSP00000359200:V669L	ENSP00000263519:V683L	V	+	1	0	ATP2B3	152471910	1.000000	0.71417	0.977000	0.42913	0.837000	0.47467	8.006000	0.88564	2.384000	0.81235	0.600000	0.82982	GTG		0.632	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1		NM_021949		13	27	1	0	0.000219431	0.00245	0.000381145	13	27		
SRPK3	26576	broad.mit.edu	37	X	153048313	153048313	+	Missense_Mutation	SNP	G	G	A	rs374171969		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:153048313G>A	ENST00000370101.3	+	6	608	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	SRPK3_ENST00000370108.3_Missense_Mutation_p.V188M|SRPK3_ENST00000393786.3_Missense_Mutation_p.V188M|SRPK3_ENST00000489426.1_Missense_Mutation_p.V255M|SRPK3_ENST00000370104.1_Missense_Mutation_p.V188M|SRPK3_ENST00000370100.1_Missense_Mutation_p.V146M	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGCCCTGCGTGAAGAGCAT	0.642																																					Esophageal Squamous(167;766 3400 32156)	uc004fil.2		NaN																	0				pancreas(2)|lung(1)	3						c.(562-564)GTG>ATG		serine arginine rich protein-specific kinase 3		G	MET/VAL,MET/VAL,MET/VAL	0,3832		0,0,0,1631,570	59.0	46.0	51.0		562,562,562	5.8	0.1	X		51	1,6727		0,0,1,2428,1871	no	missense,missense,missense	SRPK3	NM_001170760.1,NM_001170761.1,NM_014370.3	21,21,21	0,0,1,4059,2441	AA,AG,A,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging	188/567,188/534,188/568	153048313	1,10559	2201	4300	6501	SO:0001583	missense	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153048313G>A	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.562G>A	X.37:g.153048313G>A	ENSP00000359119:p.Val188Met					SRPK3_uc004fik.2_Missense_Mutation_p.V254M|SRPK3_uc010nul.2_Missense_Mutation_p.V146M|SRPK3_uc004fin.2_Missense_Mutation_p.V188M|SRPK3_uc004fim.2_Missense_Mutation_p.V188M	p.V188M	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN			6	594	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		188			Protein kinase.		Q13583|Q4F970|Q562F5|Q9UM62	Missense_Mutation	SNP	ENST00000370101.3	37	c.562G>A	CCDS35441.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785545	0.70337	0.0	1.49E-4	ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000370100	T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000258	T	0.77658	0.4163	L	0.42529	1.33	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.998;1.0;0.998	P;D;P;D;P	0.91635	0.902;0.999;0.894;0.997;0.907	T	0.79145	-0.1924	10	0.87932	D	0	-27.6137	17.8023	0.88591	0.0:0.0:1.0:0.0	.	146;188;188;188;255	Q9UPE1-2;Q9UPE1-4;Q9UPE1-3;Q9UPE1;E7ETV6	.;.;.;SRPK3_HUMAN;.	M	255;188;188;188;188;146	ENSP00000420058:V255M;ENSP00000377376:V188M;ENSP00000359122:V188M;ENSP00000359126:V188M;ENSP00000359119:V188M;ENSP00000359118:V146M	ENSP00000359118:V146M	V	+	1	0	SRPK3	152701507	1.000000	0.71417	0.104000	0.21259	0.105000	0.19272	9.576000	0.98192	2.565000	0.86533	0.600000	0.82982	GTG		0.642	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1		NM_014370		14	20	0	0	0	0.00245	0	14	20		
FLNA	2316	broad.mit.edu	37	X	153578566	153578566	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:153578566G>A	ENST00000369850.3	-	45	7402	c.7166C>T	c.(7165-7167)gCt>gTt	p.A2389V	FLNA_ENST00000344736.4_Missense_Mutation_p.A2349V|FLNA_ENST00000422373.1_Missense_Mutation_p.A2381V|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000369856.3_Missense_Mutation_p.A522V|FLNA_ENST00000360319.4_Missense_Mutation_p.A2381V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2389					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAAGCGCACAGCATACTTATC	0.582																																						uc004fkk.2		NaN																	0				breast(6)	6						c.(7165-7167)GCT>GTT		filamin A, alpha isoform 2							97.0	99.0	98.0					X																	153578566		2113	4226	6339	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153578566G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.7166C>T	X.37:g.153578566G>A	ENSP00000358866:p.Ala2389Val					FLNA_uc004fki.2_Missense_Mutation_p.A432V|FLNA_uc011mzn.1_Missense_Mutation_p.A522V|FLNA_uc010nuu.1_Missense_Mutation_p.A2381V	p.A2389V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			45	7415	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2389			Filamin 22.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.7166C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646181	0.67358	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	5.67	5.67	0.87782	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90779	0.7105	L	0.55017	1.72	0.80722	D	1	D;D;P;P	0.71674	0.998;0.993;0.613;0.613	D;P;P;P	0.81914	0.995;0.903;0.456;0.456	D	0.90125	0.4202	10	0.44086	T	0.13	.	18.7977	0.92001	0.0:0.0:1.0:0.0	.	522;2381;2389;2389	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	V	2381;2057;2381;2389;522;2349	ENSP00000353467:A2381V;ENSP00000416926:A2381V;ENSP00000358866:A2389V;ENSP00000358872:A522V;ENSP00000358863:A2349V	ENSP00000358863:A2349V	A	-	2	0	FLNA	153231760	1.000000	0.71417	0.924000	0.36721	0.125000	0.20455	9.817000	0.99352	2.385000	0.81259	0.529000	0.55759	GCT		0.582	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3				23	58	0	0	0	0.003954	0	23	58		
CTAG2	30848	broad.mit.edu	37	X	153880854	153880854	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:153880854C>T	ENST00000247306.4	-	2	384	c.321G>A	c.(319-321)agG>agA	p.R107R	CTAG2_ENST00000369585.3_Silent_p.R107R	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	107						centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGACAGGATCCTGCGGACCA	0.622																																						uc004fmi.1		NaN																	0				pancreas(1)	1						c.(319-321)AGG>AGA		cancer/testis antigen 2 isoform LAGE-1b							43.0	42.0	43.0					X																	153880854		2203	4298	6501	SO:0001819	synonymous_variant	30848					centrosome		g.chrX:153880854C>T	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.321G>A	X.37:g.153880854C>T						CTAG2_uc004fmh.1_Silent_p.R107R	p.R107R	NM_020994	NP_066274	O75638	CTAG2_HUMAN			2	374	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		107					O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	ENST00000247306.4	37	c.321G>A	CCDS14759.1																																																																																				0.622	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1		NM_020994		18	35	0	0	0	0.001523	0	18	35		
CAMSAP2	23271	broad.mit.edu	37	1	200709041	200709062	+	Frame_Shift_Del	DEL	GGGCCAAAATCGCCTGCAATCT	GGGCCAAAATCGCCTGCAATCT	-	rs200848625|rs201513510		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:200709041_200709062delGGGCCAAAATCGCCTGCAATCT	ENST00000236925.4	+	1	135_156	c.86_107delGGGCCAAAATCGCCTGCAATCT	c.(85-108)agggccaaaatcgcctgcaatctgfs	p.RAKIACNL29fs	CAMSAP2_ENST00000358823.2_Frame_Shift_Del_p.RAKIACNL29fs|CAMSAP2_ENST00000413307.2_Frame_Shift_Del_p.RAKIACNL29fs			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	29					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GATTTCTCCAGGGCCAAAATCGCCTGCAATCTGGCCTGGCTG	0.55																																						uc001gvl.2		NaN																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(85-108)AGGGCCAAAATCGCCTGCAATCTGfs		calmodulin regulated spectrin-associated protein																																				SO:0001589	frameshift_variant	23271					cytoplasm|microtubule	protein binding	g.chr1:200709041_200709062delGGGCCAAAATCGCCTGCAATCT	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.86_107delGGGCCAAAATCGCCTGCAATCT	1.37:g.200709041_200709062delGGGCCAAAATCGCCTGCAATCT	ENSP00000236925:p.Arg29fs					CAMSAP1L1_uc001gvk.2_Frame_Shift_Del_p.R29fs|CAMSAP1L1_uc001gvm.2_Frame_Shift_Del_p.R29fs	p.R29fs	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			1	356_377	+			29_36					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Frame_Shift_Del	DEL	ENST00000236925.4	37	c.86_107delGGGCCAAAATCGCCTGCAATCT																																																																																					0.550	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2		NM_203459		8	71	NaN	NaN	NaN	NaN	NaN	8	71	---	---
ANKRD36	375248	broad.mit.edu	37	2	97875579	97875580	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:97875579_97875580insA	ENST00000461153.2	+	56	3581_3582	c.3337_3338insA	c.(3337-3339)gaafs	p.E1113fs	ANKRD36_ENST00000420699.2_Frame_Shift_Ins_p.E1113fs			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1113										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TATAGCCAGAGAAAAAAAGGAT	0.322																																						uc010yva.1		NaN																	0					0						c.(3337-3339)GAAfs		ankyrin repeat domain 36																																				SO:0001589	frameshift_variant	375248							g.chr2:97875579_97875580insA	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.3344dupA	2.37:g.97875586_97875586dupA	ENSP00000419530:p.Glu1113fs						p.E1113fs	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			56	3581_3582	+			1113					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Frame_Shift_Ins	INS	ENST00000461153.2	37	c.3337_3338insA	CCDS54379.1																																																																																				0.322	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5				4	6	NaN	NaN	NaN	NaN	NaN	4	6	---	---
SAMHD1	25939	broad.mit.edu	37	20	35533895	35533896	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:35533895_35533896insA	ENST00000262878.4	-	12	1480_1481	c.1281_1282insT	c.(1279-1284)tttctgfs	p.L428fs		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	428					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AAAATCTCCAGAAAAATGTTAT	0.292																																						uc002xgh.1		NaN																	0					0						c.(1279-1284)TTTCTGfs		SAM domain- and HD domain-containing protein 1																																				SO:0001589	frameshift_variant	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35533895_35533896insA	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1282dupT	20.37:g.35533900_35533900dupA	ENSP00000262878:p.Leu428fs					SAMHD1_uc010gft.1_RNA	p.F427fs	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN			12	1411_1412	-		Myeloproliferative disorder(115;0.00878)	427_428					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Frame_Shift_Ins	INS	ENST00000262878.4	37	c.1281_1282insT	CCDS13288.1																																																																																				0.292	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2		NM_015474		41	63	NaN	NaN	NaN	NaN	NaN	41	63	---	---
CCNL1	57018	broad.mit.edu	37	3	156877198	156877198	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:156877198delA	ENST00000295926.3	-	2	492	c.374delT	c.(373-375)ttcfs	p.F125fs	CCNL1_ENST00000295925.4_Frame_Shift_Del_p.F125fs|CCNL1_ENST00000461804.1_Frame_Shift_Del_p.F125fs	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	125	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GCTTACCTCGAAACTGTGTTT	0.517																																						uc003fbf.2		NaN																	0				lung(3)|breast(1)|skin(1)	5						c.(373-375)TTCfs		cyclin L1							58.0	61.0	60.0					3																	156877198		2203	4300	6503	SO:0001589	frameshift_variant	57018				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr3:156877198delA	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.374delT	3.37:g.156877198delA	ENSP00000295926:p.Phe125fs					CCNL1_uc003fbd.1_Frame_Shift_Del_p.F125fs|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA|CCNL1_uc003fbi.1_5'UTR	p.F125fs	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)		2	973	-			125			Cyclin-like 1.		B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Frame_Shift_Del	DEL	ENST00000295926.3	37	c.374delT	CCDS3178.1																																																																																				0.517	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1		NM_020307		17	50	NaN	NaN	NaN	NaN	NaN	17	50	---	---
ZDHHC19	131540	broad.mit.edu	37	3	195925257	195925257	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:195925257delA	ENST00000296326.3	-	7	918	c.839delT	c.(838-840)ctgfs	p.L280fs		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	280						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		TGGAGGGTGCAGATTCGGCAT	0.652																																						uc003fwc.2		NaN																	0				ovary(3)	3						c.(838-840)CTGfs		zinc finger, DHHC domain containing 19							40.0	46.0	44.0					3																	195925257		2088	4224	6312	SO:0001589	frameshift_variant	131540					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:195925257delA	BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.839delT	3.37:g.195925257delA	ENSP00000296326:p.Leu280fs					ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_RNA|ZDHHC19_uc010iab.2_Intron	p.L280fs	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)	7	953	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		280					A8MSY6|B3KVI1	Frame_Shift_Del	DEL	ENST00000296326.3	37	c.839delT	CCDS43190.1																																																																																				0.652	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1		NM_144637		12	58	NaN	NaN	NaN	NaN	NaN	12	58	---	---
ATP10D	57205	broad.mit.edu	37	4	47538490	47538491	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:47538490_47538491insT	ENST00000273859.3	+	8	1321_1322	c.1052_1053insT	c.(1051-1056)cattttfs	p.HF351fs	ATP10D_ENST00000504445.1_Frame_Shift_Ins_p.HF351fs	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	351					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAAAAGATGCATTTTTTCAATG	0.342																																						uc003gxk.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(1051-1053)CATfs		ATPase, class V, type 10D																																				SO:0001589	frameshift_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47538490_47538491insT	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1058dupT	4.37:g.47538496_47538496dupT	ENSP00000273859:p.His351fs					ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Frame_Shift_Ins_p.H351fs	p.H351fs	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			8	1216_1217	+			351			Extracellular (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Frame_Shift_Ins	INS	ENST00000273859.3	37	c.1052_1053insT	CCDS3476.1																																																																																				0.342	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1		NM_020453		112	80	NaN	NaN	NaN	NaN	NaN	112	80	---	---
EYA4	2070	broad.mit.edu	37	6	133783839	133783839	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:133783839delA	ENST00000367895.5	+	9	1125	c.661delA	c.(661-663)agtfs	p.S221fs	EYA4_ENST00000452339.2_Frame_Shift_Del_p.S167fs|EYA4_ENST00000431403.2_Frame_Shift_Del_p.S221fs|EYA4_ENST00000531901.1_Frame_Shift_Del_p.S221fs|EYA4_ENST00000525849.1_Frame_Shift_Del_p.S198fs|EYA4_ENST00000355167.3_Frame_Shift_Del_p.S221fs|EYA4_ENST00000355286.6_Frame_Shift_Del_p.S198fs|EYA4_ENST00000430974.2_Frame_Shift_Del_p.S167fs	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	221					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TGGCTGCCTCAGTTACAGCCC	0.473																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3		NaN																	0				large_intestine(2)	2						c.(661-663)AGTfs		eyes absent 4 isoform a							80.0	75.0	77.0					6																	133783839		2203	4300	6503	SO:0001589	frameshift_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133783839delA	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.661delA	6.37:g.133783839delA	ENSP00000356870:p.Ser221fs					EYA4_uc011ecq.1_Frame_Shift_Del_p.S167fs|EYA4_uc011ecr.1_Frame_Shift_Del_p.S167fs|EYA4_uc003qed.3_Frame_Shift_Del_p.S221fs|EYA4_uc003qee.3_Frame_Shift_Del_p.S198fs|EYA4_uc011ecs.1_Frame_Shift_Del_p.S221fs|uc003qef.1_Intron	p.S221fs	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	9	1119	+	Colorectal(23;0.221)		221					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Frame_Shift_Del	DEL	ENST00000367895.5	37	c.661delA	CCDS5165.1																																																																																				0.473	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2		NM_004100		23	37	NaN	NaN	NaN	NaN	NaN	23	37	---	---
GLIS3	169792	broad.mit.edu	37	9	4117765	4117766	+	Intron	INS	-	-	A	rs374327218		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:4117765_4117766insA	ENST00000324333.10	-	3	1439				GLIS3_ENST00000381971.3_Intron	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTCGGAAACTCACCGTACACTT	0.559																																						uc003zhw.1		NaN																	0				ovary(1)	1						c.e3+1		GLIS family zinc finger 3 isoform b																																				SO:0001627	intron_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4117765_4117766insA	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1245+1->T	9.37:g.4117766_4117766dupA						GLIS3_uc003zhx.1_Splice_Site_p.T570_splice|GLIS3_uc003zhy.1_Intron|GLIS3_uc003zhz.1_Intron	p.T415_splice	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	1439	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)						B1AL19|Q1PHK5	Splice_Site	INS	ENST00000324333.10	37	c.1245_splice	CCDS6451.1																																																																																				0.559	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1		NM_152629		70	76	NaN	NaN	NaN	NaN	NaN	70	76	---	---
GLUD2	2747	broad.mit.edu	37	X	120182413	120182413	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:120182413delT	ENST00000328078.1	+	1	952	c.875delT	c.(874-876)attfs	p.I292fs		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	292					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						TACATGAGCATTTTAGGAATG	0.438																																						uc004eto.2		NaN																	0				pancreas(1)	1						c.(874-876)ATTfs		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						154.0	135.0	142.0					X																	120182413		2203	4300	6503	SO:0001589	frameshift_variant	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182413delT	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.875delT	X.37:g.120182413delT	ENSP00000327589:p.Ile292fs						p.I292fs	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	952	+			292					B2R8G0|Q9UDQ4	Frame_Shift_Del	DEL	ENST00000328078.1	37	c.875delT	CCDS14603.1																																																																																				0.438	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1		NM_012084		36	108	NaN	NaN	NaN	NaN	NaN	36	108	---	---
